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Sample records for han xiumin jiang

  1. Little Hans: masculinity foretold.

    PubMed

    Corbett, Ken

    2009-07-01

    Joining the centennial reexamination of Freud's "Analysis of a Phobia in a Five-Year-Old Boy" (I909a), the author returns to Little Hans as the Ur psychoanalytic boy. Hans's construction and acts of consciousness continue to endow the psychoanalytic construct of masculinity with meaning. It is suggested that Freud moved in his discussion of the case to regulate the unsettled conditions of masculinity that he articulated through his clinical observations of Hans. The case is viewed as an exemplary illustration of how masculinity is foretold--a normative narrative that has changed little in the last 100 years. The author offers a contemporary view of masculinity as a dilemma of boundary--neither fully interior nor fully exterior, neither fully fantastic nor fully socially constructed.

  2. Eastern Han's Cunning Depiction

    NASA Astrophysics Data System (ADS)

    Chiu, B. C.

    1998-09-01

    It is still only speculation, but an earlier visit to a Han dynasty (202 BC - 220 AD) tomb has started the idea, and a recently found study of another Han tomb has convinced me it is worth pursuing. What it is is that the ancient Chinese Sky Animal which represents North was not the turtle or tortoise until about the time of Han. My own visit was to an Eastern (later period) Han tomb which had been moved to a museum near the ancient capital of Luoyang. The ceiling of the inner chamber was rounded, made of brick. Drawings of a tiger and a red bird were clear to the west and south. A rounded object was at the north. Outside the tomb was a sign which said it was 'cun,' which means village. Chinese characters often have homonyms, but 'cun' has few. I have also visited the neolithic village of Banpo, near the Yellow River in the north. It has noticeably large and deep trenches to keep out wild animals, and one separates the residential area from the business area. This village is dated earlier than 4000 BC. The trenches definitely remind me of later depictions of the turtle with a snake wound about it. The recent findings of a tomb at Puyang with shapes of tiger and dragon have dated it to 3000 BC. Nothing was placed at the south side. Something was at the north, but one might argue about that. Finally, I found this article in Chinese Studies in Archaeology (1979), translated by S. Cahill of UC, Berkeley, called "Analysis of the Western Han Murals in the Luouyang Tomb of Bo Qianqiu" by Sun Zuoyun. Although Western Han is earlier than Eastern, the pictures in the tomb were well preserved. There were tiger, dragon, vermilion bird, and other animals, but no tortoise. Instead, there was a sun with a bird inside, and the moon with a frog. Several hundred miles north of the Yellow River, there is the Amur River. The natives there had robes decorated with snakes, lizards, and frogs, and other animals, but no turtle. Later reasons for having the turtle or tortoise is a separate

  3. Hans Bethe's early life

    NASA Astrophysics Data System (ADS)

    Bernstein, Jeremy

    2012-10-01

    In 1937, two years after he moved to the US to escape Nazi persecution, the physicist Hans Bethe sent a letter to his mother in Germany. In it, he wrote, "I think I am about the leading theoretician in America. [Eugene] Wigner is certainly better and [Robert] Oppenheimer and [Edward] Teller probably just as good. But I do more and talk more and that counts too."

  4. In Memoriam: Hans Bethe

    NASA Astrophysics Data System (ADS)

    Garwin, Richard L.; Von Hippel, Frank

    Hans Bethe, who died on March 6 at the age of 98, was exemplary as a scientist; a citizen-advocate seeking to stem the arms race; and an individual of warmth, generosity, tenacity, and modest habits. Bethe made major contributions to several areas of physics during his academic career. He earned a Nobel Prize in 1967 for his research into how the sun generates its energy by converting hydrogen to helium using carbon as a nuclear catalyst. A few years later, he made central contributions to the secret US World War II nuclear-weapon development programs (the "Manhattan Project").

  5. The Hazard Notification System (HANS)

    NASA Astrophysics Data System (ADS)

    Snedigar, S. F.; Venezky, D. Y.

    2009-12-01

    The Volcano Hazards Program (VHP) has developed a Hazard Notification System (HANS) for distributing volcanic activity information collected by scientists to airlines, emergency services, and the general public. In the past year, data from HANS have been used by airlines to make decisions about diverting or canceling flights during the eruption of Mount Redoubt. HANS was developed to provide a single system that each of the five U.S. volcano observatories could use for communicating and storing volcanic information about the 160+ potentially active U.S. volcanoes. The data that cover ten tables and nearly 100 fields are now stored in similar formats, and the information can be released in styles requested by our agency partners, such as the International Civil Aviation Organization (ICAO). Currently, HANS has about 4500 reports stored; on average, two - three reports are added daily. HANS (at its most basic form) consists of a user interface for entering data into one of many release types (Daily Status Reports, Weekly Updates, Volcano Activity Notifications, etc.); a database holding previous releases as well as observatory information such as email address lists and volcano boilerplates; and a transmission system for formatting releases and sending them out by email or other web related system. The user interface to HANS is completely web based, providing access to our observatory scientists from any online PC. The underlying database stores the observatory information and drives the observatory and program websites' dynamic updates and archived information releases. HANS also runs scripts for generating several different feeds including the program home page Volcano Status Map. Each observatory has the capability of running an instance of HANS. There are currently three instances of HANS and each instance is synchronized to all other instances using a master-slave environment. Information can be entered on any node; slave nodes transmit data to the master node

  6. Helping HAN for hybrid rockets

    NASA Astrophysics Data System (ADS)

    Ramohalli, Kumar; Dowler, Warren

    1995-01-01

    Hydroxyl amine nitrate (HAN) is a powerful oxidizer for hybrid rocket flight motors. Miscible with water up to 95% by mass, it also has high density and has been extensively characterized for materials compatibility, safety, transportation, storage and handling. Before any serious attempt to use the proposed oxidizer in hybrids, though, the usual performance figures must first be obtained. The simplest are time-independent, equilibrium rocket performance numbers that include chamber temperature, temperature at the nozzle throat, and key species in the exhaust. These numbers must be followed by several other important performance evaluation, including burning rates, pressure dependence, susceptibility to instabilities and temperature sensitivity.

  7. Hans Loewald: a radical conservative.

    PubMed

    Whitebook, Joel

    2004-02-01

    Hans Loewald's work was relatively marginalized in its day and it is little known outside the United States. It is, however, assuming increasing importance in American psychoanalysis. Loewald's attractiveness as a theoretician is due, in no small part, to his rigor and synthetic reach. He is able to accomplish the difficult feat of remaining non-sectarian and systematic at the same time. Indeed, Loewald's work contains an integrative vision that is unusual in today's fragmented psychoanalytic world. This author tries to show how Loewald attempts to reconcile many of the rigid oppositions that often become reified in analytic controversies: structural theory versus relational psychoanalysis, traditionalism versus revisionism, oedipal versus pre-oedipal, modernist versus postmodernist and hermeneutical versus scientific. The article examines how Eros, understood in terms of the psyche's synthetic strivings, plays a major role in Loewald's theory. The author also situates Loewald's position within contemporary psychoanalytic discussions of epistemology. These discussions tend to criticize the objectivism of modern science-and analysis in so far as it models itself on science-and stress countertransference and the subjectivity of the analyst. Loewald's argument, however, runs in the opposite direction. Because of his concern with the autonomy and individuality of the patient, he is concerned with the clinical dangers rising from an overemphasis on the subjectivity of the analyst.

  8. General Secretary Jiang Zemin and Premier Li Peng on family planning.

    PubMed

    Jiang, Z; Li, P

    1991-06-01

    Speeches given by General Secretary Jiang Zemin and Premier Li Peng to the forum on Family Planning (FP) Work in April 1991 are summarized. Jiang stated that the highest levels of communist party and governmental officials should be in charge of controlling population growth in China. There is great urgency to do so. The problems to be faced are a hugh population, scarce arable land, a poor economic foundation, and low per capita resources. Human resources are an asset for the socialist construction of China, but a rapid growth rate will retard economic and social development and affect the improvement in living standards and the quality of life. The strategy to place FP within state policy and place strict controls over population growth must be carried out resolutely. The future of socialism and the Chinese nation is at stake. Modernization cannot be accomplished with out controlling population growths. The 8th 5 year Plan and the 10 Year Program requirements will still contribute to 1.3 billion population by 2000 and 1.2 billion by 1995. There is historical responsibility, an urgency to strictly control population growth. Adherence to the 4 cardinal principles of socialism (the people's democratic dictatorship, the Communist Party leadership, and Marxist Leninist and Mao Zedong thought) must coexist with social development and family planning. All must be motivated. The provincial Party Secretary personally must oversee problems. The success or failure of FP should be used to evaluate the achievements of party committees and governments. The education on basic national conditions and the basic state policy on FP needs to be publicized through all organizations. There should be confidence in the masses. People must make FP their own cause voluntarily. Premier Li Peng stressed effective implementation and giving it high priority in order to achieve the 2nd step strategic goal of socialist modernization. Per capita output is low, and grain output will not increase

  9. Nitrification and its oxygen consumption along the turbid Chang Jiang River plume

    NASA Astrophysics Data System (ADS)

    Hsiao, S. S.-Y.; Hsu, T.-C.; Liu, J.-w.; Xie, X.; Zhang, Y.; Lin, J.; Wang, H.; Yang, J.-Y. T.; Hsu, S.-C.; Dai, M.; Kao, S.-J.

    2014-04-01

    Nitrification is a series of processes that oxidizes ammonia to nitrate, which contributes to hypoxia development in coastal oceans, especially in eutrophicated regions. The nitrification rate of bulk water (NRb) and particle free water (NRpf, particle > 3 μm eliminated) were determined along the Chang Jiang River plume in August 2011 by nitrogen isotope tracer technique. Measurements of dissolved oxygen (DO), community respiration rate (CR), nutrients, dissolved organic nitrogen (DON), total suspended matter (TSM), particulate organic carbon/nitrogen (POC / PON), acid-leachable iron and manganese on suspended particles and both archaeal and β-proteobacterial ammonia monooxygenase subunit A gene (amoA) abundance on size-fractioned particles (> 3 μm and 0.22-3 μm) were conducted. The NRb ranged from undetectable up to 4.6 μmol L-1 day-1, peaking at a salinity of ~ 29. NRb values were positively correlated with ammonium concentration, suggesting the importance of substrate in nitrification. In the river mouth and the inner plume, NRb was much higher than NRpf, indicating that the nitrifying microorganism is mainly particle associated, which was supported by its significant correlation with amoA gene abundance and TSM concentration. The estimated oxygen demands of nitrification accounted for 0.32 to 318% of CR, in which 50% samples demanded more oxygen than that predicted by by the Redfield model (23%), indicating that oxygen might not be the sole oxidant though DO was sufficient (> 58 μmol kg-1) throughout the observation period. The excess nitrification-associated oxygen demand (NOD) showed a tendency to occur at lower DO samples accompanied by higher acid-leachable Fe / Mn, which implied reactive Fe3+ / Mn4+ may play a role as oxidant in the nitrification process. Stoichiometric calculation suggested that reactive Fe on particles was 10 times the oxidant demand required to complete ammonia oxidation in the entire plume. The potential involvement of reactive

  10. The Dramatic Methods of Hans van Dam.

    ERIC Educational Resources Information Center

    van de Water, Manon

    1994-01-01

    Interprets for the American reader the untranslated dramatic methods of Hans van Dam, a leading drama theorist in the Netherlands. Discusses the functions of drama as a method, closed dramatic methods, open dramatic methods, and applying van Dam's methods. (SR)

  11. 3. Photocopy of postcard showing watercolor depiction of the Hans ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    3. Photocopy of postcard showing watercolor depiction of the Hans Herr House by C.X. Carlson, as it appeared in the book, Old Lancaster - Hans Herr House, 1851 Hans Herr Drive, West Lampeter Township, Willow Street, Lancaster County, PA

  12. Relationship between summer rainfall anomalies and sub-seasonal oscillation intensity in the ChangJiang Valley in China

    NASA Astrophysics Data System (ADS)

    Li, Chunhui; Li, Tim; Gu, Dejun; Lin, Ailan; Zheng, Bin

    2015-06-01

    Sub-seasonal variability of summer (May-October) rainfall over the ChangJiang Valley exhibits two dominant timescales, one with a quasi-biweekly (QBW) period (10-20 days) and the other with an intraseasonal oscillation (ISO) period (20-60 days). A significant positive correlation (at a 99% confidence level) was found between the summer precipitation anomaly and the intensity of the QBW and ISO modes in the region. By examining the composite structure and evolution characteristics, we note that the QBW mode is characterized by a northwest-southeast oriented wave train pattern, moving southeastward. The perturbations associated with the ISO mode propagate northwestward in strong ISO years but southeastward in weak ISO years. A marked feature is the phase leading of low-level moisture to convection in both the QBW and ISO mode. When the summer rainfall is strong in the ChangJiang Valley, large-scale atmospheric conditions in the strong QBW/ISO activity region are characterized by deeper moist layer, convectively more unstable stratification and greater ascending motion. Such mean conditions favor the growth of the QBW and ISO perturbations. Thus, a significant positive correlation between the summer precipitation and the strength of sub-seasonal variability arises from the large-scale control of the summer mean flow to perturbations.

  13. The “Clever Hans Phenomenon” revisited

    PubMed Central

    Samhita, Laasya; Gross, Hans J

    2013-01-01

    In the first decade of the 20th century, a horse named Hans drew worldwide attention in Berlin as the first and most famous “speaking” and thinking animal. Hans solved calculations by tapping numbers or letters with his hoof in order to answer questions. Later on, it turned out that the horse was able to give the correct answer by reading the microscopic signals in the face of the questioning person. This observation caused a revolution and as a consequence, experimenters avoided strictly any face-to-face contact in studies about cognitive abilities of animals—a fundamental lesson that is still not applied rigorously. PMID:24563716

  14. Hans Eysenck (1916-1997): A Tribute.

    ERIC Educational Resources Information Center

    Sternberg, Robert J.

    1997-01-01

    Hans Eysenck, who died in September 1997, was one of the most well-known psychologists in the world. A believer that intelligence is genetically controlled, Eysenck recognized the need for scientific investigation in the study of intelligence and creativity. He was characterized by extraordinary creativity and commitment to his scientific message.…

  15. HAN-Based Monopropellant Technology Development

    NASA Technical Reports Server (NTRS)

    Reed, Brian

    2002-01-01

    NASA Glenn Research Center is sponsoring efforts to develop technology for high-performance, high-density, low-freezing point, low-hazards monopropellant systems. The program is focused on a family of monopropellant formulations composed of an aqueous solution of hydroxylammonium nitrate (HAN) and a fuel component. HAN-based monopropellants offer significant mass and volume savings to small (less than 100 kg) satellite for orbit raising and on-orbit propulsion applications. The low-hazards characteristics of HAN-based monopropellants make them attractive for applications where ground processing costs are a significant concern. A 1-lbf thruster has been demonstrated to a 20-kg satellite orbit insertion duty cycle, using a formulation compatible with currently available catalysts. To achieve specific impulse levels above those of hydrazine, catalyst materials that can withstand the high-temperature, corrosive combustion environment of HAN-based monopropellants have to be developed. There also needs to be work done to characterize propellant properties, burning behavior, and material compatibility. NASA is coordinating their monopropellant efforts with those of the United States Air Force.

  16. An interview with Mark G. Hans

    PubMed Central

    Bolognese, Ana Maria; Palomo, Juan Martin; Miyashita, Kunihiko; Nojima, Lincoln Issamu; Nojima, Matilde da Cunha Gonçalves

    2014-01-01

    It is a great honor to conduct an interview with Professor Mark G. Hans, after following his outstanding work ahead of the Bolton-Brush Growth Study Center and the Department of Orthodontics at the prestigious Case Western Reserve School of Dental Medicine (CWRU) in Cleveland, Ohio. Born in Berea, Ohio, Professor Mark Hans attended Yale University in New Haven, CT, and earned his Bachelor of Science Degree in Chemistry. Upon graduation, Dr. Hans received his DDS and Masters Degree of Science in Dentistry with specialty certification in Orthodontics at Case Western Reserve University. During his education, Dr. Hans' Master's Thesis won the Harry Sicher Award for Best Research by an Orthodontic Student and being granted a Presidential Teaching Fellowship. As one of the youngest doctors ever certified by the American Board of Orthodontics, Dr. Hans continues to maintain his board certification. He has worked through academics on a variety of research interests, that includes the demographics of orthodontic practice, digital radiographic data, dental and craniofacial genetics, as obstructive sleep apnea syndrome, with selected publications in these fields. One of his noteworthy contributions to the orthodontic literature came along with Dr. Donald Enlow on the pages of "Essentials of Facial Growth", being reference on the study of craniofacial growth and development. Dr. Mark Hans's academic career is linked to CWRU, recognized as the renowned birthplace of research on craniofacial growth and development, where the classic Bolton-Brush Growth Study was historically set. Today, Dr. Hans is the Director of The Bolton-Brush Growth Study Center, performing, with great skill and dedication, the handling of the larger longitudinal sample of bone growth study. He is Associate Dean for Graduate Studies, Professor and Chairman of the Department of Orthodontics, working in clinical and theoretical activities with students of the Undergraduate Course from the School of Dental

  17. Untargeted serum metabolomics reveals Fu-Zhu-Jiang-Tang tablet and its optimal combination improve an impaired glucose and lipid metabolism in type II diabetic rats.

    PubMed

    Tao, Yi; Chen, Xi; Cai, Hao; Li, Weidong; Cai, Baochang; Chai, Chuan; Di, Liuqing; Shi, Liyun; Hu, Lihong

    2017-01-01

    Fu-Zhu-Jiang-Tang tablet, a six-herb preparation, was proved to show beneficial effects on type II diabetes patients in clinical. This study aims to optimize the component proportion of the six-herb preparation and explore the serum metabolic signatures of type II diabetes rats after treatment with Fu-Zhu-Jiang-Tang tablet and its optimal combination. The component proportion of the preparation was optimized using uniform experimental design and machine learning techniques. Untargeted GC-MS metabolomic experiments were carried out with serum samples from model group and treatment groups. Data were normalized, multivariate and univariate statistical analysis performed and metabolites of interest putatively identified. 23 metabolites were significantly changed by Fu-Zhu-Jiang-Tang tablet treatment and the majority of these were decreased, including various carbohydrates (glucose, mannose, fructose, allose and gluconic acid), unsaturated fatty acids (palmitic acid, 9-octadecenoic acid, oleic acid, arachidonic acid), alanine, valine, propanoic acid, 3-hydroxybutyrate, along with pyrimidine and cholesterol. Increased concentrations of oxalic acid, leucine, glycine, serine, threonine, proline, lysine and citrate were observed. In the optimal combination-fed group, 21 metabolites were significantly affected and strikingly, the magnitudes of changes here were generally much greater than that of Fu-Zhu-Jiang-Tang tablet treated rats. 18 metabolites affected in both groups included various carbohydrates (mannose, glucose, allose, fructose and gluconic acid), unsaturated fatty acids (palmitic acid, 9-octadecenoic acid, oleic acid and arachidonic acid), short-chain fatty acids (oxalic acid, 3-hydroxybutyrate), and amino acids (alanine, valine, leucine, glycine, proline and lysine), as well as pyrimidine. Metabolites exclusively affected in optimal combination treated rat included succinic acid, cysteine and phenylalanine, whilst four metabolites (propanoic acid, citrate

  18. Nontoxic Hydroxylammonium Nitrate (HAN) Monopropellant Propulsion

    NASA Technical Reports Server (NTRS)

    McKechnie, Timothy N.

    2015-01-01

    Nontoxic monopropellants have been developed that provide better performance than toxic hydrazine. Formulations based on HAN have superior performance as compared to hydrazine with enhanced specific impulse (Isp), higher density and volumetric impulse, lower melting point, and much lower toxicity. However, HAN-based monopropellants require higher chamber temperatures (2,083 K vs. 883 K) to combust. Current hydrazine-based combustion chamber technology (Inconel® or niobium C103 and silicide coating) and catalyst (Shell 405) are inadequate. In Phase I, state-of-the-art iridium-lined rhenium chambers and innovative new foam catalysts were demonstrated in pulse and 10-second firings. Phase II developed and tested a flight-weight thruster for an environmentally green monopropellant.

  19. An interview with Mark G. Hans.

    PubMed

    Hans, Mark G; Nojima, Matilde da Cunha Gonçalves

    2014-01-01

    It is a great honor to conduct an interview with Professor Mark G. Hans, after following his outstanding work ahead of the Bolton-Brush Growth Study Center and the Department of Orthodontics at the prestigious Case Western Reserve School of Dental Medicine (CWRU) in Cleveland, Ohio. Born in Berea, Ohio, Professor Mark Hans attended Yale University in New Haven, CT, and earned his Bachelor of Science Degree in Chemistry. Upon graduation, Dr. Hans received his DDS and Masters Degree of Science in Dentistry with specialty certification in Orthodontics at Case Western Reserve University. During his education, Dr. Hans’ Master’s Thesis won the Harry Sicher Award for Best Research by an Orthodontic Student and being granted a Presidential Teaching Fellowship. As one of the youngest doctors ever certified by the American Board of Orthodontics, Dr. Hans continues to maintain his board certification. He has worked through academics on a variety of research interests, that includes the demographics of orthodontic practice, digital radiographic data, dental and craniofacial genetics, as obstructive sleep apnea syndrome, with selected publications in these fields. One of his noteworthy contributions to the orthodontic literature came along with Dr. Donald Enlow on the pages of “Essentials of Facial Growth”, being reference on the study of craniofacial growth and development. Dr. Mark Hans’s academic career is linked to CWRU, recognized as the renowned birthplace of research on craniofacial growth and development, where the classic Bolton-Brush Growth Study was historically set. Today, Dr. Hans is the Director of The Bolton-Brush Growth Study Center, performing, with great skill and dedication, the handling of the larger longitudinal sample of bone growth study. He is Associate Dean for Graduate Studies, Professor and Chairman of the Department of Orthodontics, working in clinical and theoretical activities with students of the Undergraduate Course from the School of

  20. Hans Zinsser: a tale of two cultures.

    PubMed Central

    Summers, W. C.

    1999-01-01

    Hans Zinsser, president of the Society of American Bacteriologists in 1926, was known as much for his literary and textbook writing as for his scientific contributions. He was a widely known scientist and person of letters. His early interests in poetry and other forms of literature were maintained and developed during his career as a microbiologist, and his most enduring legacy is based on his writing about microbiology for a general readership as well as his reflective and philosophical autobiography. Images Figure 1 PMID:11049165

  1. HAN-based monopropellant assessment for spacecraft

    NASA Technical Reports Server (NTRS)

    Jankovsky, Robert S.

    1996-01-01

    The growing cost of space missions, the need for increased mission performance, and concerns associated with environmental issues are changing rocket design and propellant selection criteria. Whereas a propellant's performance was once defined solely in terms of specific impulse and density, now environmental safety, operability, and cost are considered key drivers. Present emphasis on these considerations has heightened government and commercial launch sector interest in Hydroxylammonium Nitrate (HAN)-based liquid propellants as options to provide simple, safe, reliable, low cost, and high performance monopropellant systems.

  2. The simulation research of dissolved nitrogen and phosphorus non-point source pollution in Xiao-Jiang watershed of Three Gorges Reservoir area.

    PubMed

    Wu, Lei; Long, Tian-Yu; Li, Chong-Ming

    2010-01-01

    Xiao-jiang, with a basin area of almost 5,276 km(2) and a length of 182.4 km, is located in the center of the Three Gorges Reservoir Area, and is the largest tributary of the central section in Three Gorges Reservoir Area, farmland accounts for a large proportion of Xiao-jiang watershed, and the hilly cropland of purple soil is much of the farmland of the watershed. After the second phase of water storage in the Three Gorges Reservoir, the majority of sub-rivers in the reservoir area experienced eutrophication phenomenon frequently, and non-point source (NPS) pollution has become an important source of pollution in Xiao-jiang Watershed. Because dissolved nitrogen and phosphorus non-point source pollution are related to surface runoff and interflow, using climatic, topographic and land cover data from the internet and research institutes, the Semi-Distributed Land-use Runoff Process (SLURP) hydrological model was introduced to simulate the complete hydrological cycle of the Xiao-jiang Watershed. Based on the SLURP distributed hydrological model, non-point source pollution annual output load models of land use and rural residents were respectively established. Therefore, using GIS technology, considering the losses of dissolved nitrogen and phosphorus in the course of transport, a dissolved non-point source pollution load dynamic model was established by the organic coupling of the SLURP hydrological model and land-use output model. Through the above dynamic model, the annual dissolved non-point source nitrogen and phosphorus pollution output as well as the load in different types were simulated and quantitatively estimated from 2001 to 2008, furthermore, the loads of Xiao-jiang Watershed were calculated and expressed by temporal and spatial distribution in the Three Gorges Reservoir Area. The simulation results show that: the temporal changes of dissolved nitrogen and phosphorus load in the watershed are close to the inter-annual changes of rainfall runoff, and the

  3. Mathematics Ab Ovo: Hans Driesch and Entwicklungsmechanik.

    PubMed

    Priven, Silvia Waisse; Alfonso-Goldfarb, Ana M

    2009-01-01

    One of the factors leading to the creation of embryology as a modern discipline at the end of the 19th century was Wilhelm Roux's formulation of the program of Entwicklungsmechanik (developmental mechanics). A look into the work of Hans Driesch, an equal contributor to developmental mechanics, may shed further light on this process. For Roux, developmental mechanics was an anatomical science, but for Driesch it was associated with a mathematical and physical approach to the natural world. Likewise, Roux used the concept of mechanics as an analogy, but Driesch used it literally. Driesch's generation had been trained in a pedagogic context that emphasized mathematics and physics, which may explain why he went a step further than Roux to state that a true "mechanics" of development required the reduction of morphogenetic problems to the known laws of physics. It is argued here that this difference in background is behind the enthusiastic adoption and further development of Roux's program by Driesch's generation, a generation that conceived Entwicklungsmechanik to be the reduction of embryological processes to "the laws of matter in motion." This same mathematical and physical mindset would underscore Driesch's later construction of entelechy as a regulating factor in embryogenesis, through mathematical analysis grounded on the notion of mathematical functions.

  4. Obituary: Hans Albrecht Bethe, 1906-2005

    NASA Astrophysics Data System (ADS)

    Wijers, Ralph

    2007-12-01

    One of the unquestioned giants of physics and astrophysics, Hans Bethe, died on 6 March 2005, at the venerable age of 98, in his home town of Ithaca, New York. Seven decades of contributing to research and a Nobel Prize for his work on stellar hydrogen burning make a listing of his honors superfluous (besides being impossible in this space). Bethe was born in Strassburg, in then German Alsass Lothringen, on 2 July 1906. His father, Albrecht Julius Bethe (1872-1954), taught physiology at the University, and his mother, Anna Kuhn (1876-1966), was a musician and writer. Both his grandfathers were physicians. He spent his youth in Strassburg, Kiel, and Frankfurt, and some time in sanatoria due to tuberculosis. Hans's first scientific paper, at age 18, was with his father and a colleague, on dialysis. His education and early career in Germany brought him into contact with many top stars in the quantum revolution. Starting in Frankfurt in chemistry, Bethe soon switched to physics, taught there by Walter Gerlach and Karl Meissner, among others. In 1926, he successfully applied to join Arnold Sommerfeld's group in Munich, where he met one of his later long-term collaborators, Rudolf Peierls. Bethe considered his entry into physics to have come at an ideal time, with the new ideas of wave mechanics being developed and discussed right there; it was certainly also at an ideal place. His doctoral thesis was on the theory of electron diffraction by crystals, following the experimental work by Clinton Davisson and Lester Germer and the work on X-ray diffraction by Max von Laue and Paul Ewald. The newly minted doctor went from there briefly to Frankfurt and then to Ewald in Stuttgart, where he felt at home academically and personally. In 1939, Bethe would marry Ewald's daughter Rose. Not much later, though, Sommerfeld recalled him to Munich, where Sommerfeld created a Privatdozent position for him. There he worked out the solution for a linear chain of coupled spins by what we

  5. Hans-Georg Gadamer, Language, and Intercultural Communication.

    ERIC Educational Resources Information Center

    Roy, Abhik; Starosta, William J.

    2001-01-01

    Shows how Hans-Georg Gadamer's critical hermeneutics can be applied to intercultural communication. Suggests that by incorporating the philosophies of Hans-Georg Gadamer, intercultural communication scholars will be able to bring a fresh perspective to guide their theory, research, and practice. (Author/VWL)

  6. Growth of Han migrants at high altitude in central Asia.

    PubMed

    Weitz, Charles A; Garruto, Ralph M

    2004-01-01

    Han Chinese of low-altitude descent have been living in Qinghai Province of Western China for at least two millennia. For most of this time they have lived at elevations under 2,500 m. However, during the last four decades an increasing number of Han have moved into high-altitude towns at elevations over 3,000 m, and some above 4,000 m. There are now sufficient numbers of Han descendants who have been born and raised at high altitude to allow a comparison of their morphological and physiological growth patterns with low-altitude Han to detect the effect of hypoxia. The field study reported here was conducted by collaborating Chinese and American researchers over a 6-year period, and included 1,227 Han living at high altitude in Qinghai and at low altitude near Beijing. This study demonstrates that Han born and raised at high altitude are smaller and lighter than those at low altitude-particularly as children and adolescents. Slower growth at high altitude may be a consequence of hypoxia, but it also corresponds to poorer economic conditions in rural Qinghai Province, and thus may reflect nutritional inadequacies. Differences in altitude and/or nutrition do not seem to affect thorax dimensions, since, relative to stature, chest dimensions are similar at both high and low altitudes. Nevertheless, lung volumes are higher among Han at high altitude, possibly reflecting the influence of hypoxia on alveolar growth. The hematological values of Han growing up at 3,200 m are not different from those at low altitude-an unusual finding relative to other low-altitude groups that may reflect population differences in response to hypoxia. At 3,800 m and 4,300 m, however, Han show elevated hemoglobin relative to Han at low altitude.

  7. 1. Historic American Buildings Survey, Hans Padelt, Photographer Fall 1967 ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    1. Historic American Buildings Survey, Hans Padelt, Photographer Fall 1967 (2 1/4' x 2 3/4' negative), GENERAL VIEW FROM SOUTHEAST. - Stone Warehouse, 1 Mount Hope Street, Rochester, Monroe County, NY

  8. Comustion of HAN-Based Monopropellant Droplets in Reduced Gravity

    NASA Technical Reports Server (NTRS)

    Shaw, B. D.

    2001-01-01

    Hydroxylammonium nitrate (HAN) is a major constituent in a class of liquid monopropellants that have many attractive characteristics and which display phenomena that differ significantly from other liquid monopropellants. They are composed primarily of HAN, H2O and a fuel species, often triethanolammonium nitrate (TEAN). HAN-based propellants have attracted attention as liquid gun propellants, and are attractive for NASA spacecraft propulsion applications. A representative propellant is XM46. This mixture is 60.8% HAN, 19.2% TEAN and 20% H2O by weight. Other HAN-based propellant mixtures are also of interest. For example, methanol and glycine have been investigated as potential fuel species for HAN-based monopropellants for thruster applications. In the present research, experimental and theoretical studies are performed on combustion of HAN-based monopropellant droplets. The fuel species considered are TEAN, methanol and glycine. Droplets initially in the mm size range are studied at pressures up to 30 atm. These pressures are applicable to spacecraft thruster applications. The droplets are placed in environments with various amounts of Ar, N2, O2, NO2 and N2O. Reduced gravity is employed to enable observations of burning rates and flame structures to be made without the complicating effects of buoyant and forced convection. Normal gravity experiments are also performed in this research program. The experiment goals are to provide accurate fundamental data on deflagration rates, gasphase temperature profiles, transient gas-phase flame behaviors, the onset of bubbling in droplets at lower pressures, and the low-pressure deflagration limit. Theoretical studies are performed to provide rational models of deflagration mechanisms of HAN-based liquid propellants. Besides advancing fundamental knowledge, this research should aid in applications (e.g., spacecraft thrusters and liquid propellant guns) of this unique class of monopropellants.

  9. Analysis of mitochondrial DNA polymorphisms in Guangdong Han Chinese.

    PubMed

    Chen, Feng; Wang, Sha-Yan; Zhang, Ruan-Zhang; Hu, Yu-Hua; Gao, Guo-Feng; Liu, Yan-Hui; Kong, Qing-Peng

    2008-03-01

    Previous investigations on Chinese mitochondrial DNA (mtDNA) variation revealed that the matrilineal gene pool of southern Han Chinese is rather complex, with much higher genetic diversity and more basal/ancient lineages than the northern Hans. The extreme case is Guangdong Han populations, among which pronounced (matrilineal) differentiation has been observed, indicative of complex demography of the region. To get more insights into the maternal makeup of southern Han Chinese, mtDNA variation of a total of 106 individuals sampled from Dongguan, Guangdong Province, China, was analyzed in this study. With the aid of the information from control-region hypervariable segments I and II (HVS-I and -II) as well as some necessary coding-region segments, the phylogenetic status of all mtDNAs under examination were determined according to the reconstructed East Asian mtDNA tree. In this way, the mtDNAs have been classified into various haplogroups or sub-haplogroups. The southern-prevalent haplogroups, such as R9 (20.8%), B (17.9%), M7b (14.2%), show relatively high distribution frequencies in Dongguan Hans; whereas the frequencies of Northern-prevalent haplogroups (with the exception of D) are quite low: C (1.9%), G2 (1.9%) and Z (1.9%), indicating the southern-origin of Dongguan Hans.

  10. The psychoanalytic process in the treatment of Little Hans.

    PubMed

    Bierman, Joseph S

    2007-01-01

    This paper studies the psychoanalytic process in the treatment of Little Hans, using Samuel Abrams's 1988 paper in which he defines the psychoanalytic process as the sequence of steps which appears within the mind of the patient as the treatment proceeds. As with the adult, the child can affectively recall or reenact the past in the transference, but the child also tries to promote whatever developmental phase is being clocked in. In January 1908 Max Graf, Hans's father and a member of the Vienna Psychoanalytic Society who was a musicologist, wrote Freud that his son had developed a fear that a horse would bite him in the street. Freud first suggested that the father give his son some enlightenment in the matter of sexual knowledge, such as his mother and other females have no "widdlers." The enlightenments only increased Hans's anxiety, prompting Freud to meet with Hans and his father and interpret the fear of the horse as fear of the father. While Max Graf was able to help Hans understand some dreams and fantasies, he exhibited a punitive attitude toward Hans's masturbation, which was reinforced by Freud's attitude that it was harmful. The father did not promote his son's development when he withheld knowledge of how babies are born, neither did Freud when he withheld any contrary suggestions from the father.

  11. Pollen and phytolith evidence for rice cultivation and vegetation change during the mid-late holocene at the Jiangli site, Suzhou, East China.

    PubMed

    Qiu, Zhenwei; Jiang, Hongen; Ding, Jinlong; Hu, Yaowu; Shang, Xue

    2014-01-01

    Pollen and phytolith analyses were undertaken at the Jiangli site in Suzhou, Jiangsu Province, combined with studies on macrofossils by flotation. The concentration of pollen decreased while the percentage of Poaceae pollen in the profile increased from the late phase of the Majiabang Culture to the Songze Culture suggesting that human impact on the local environment intensified gradually. The discovery of rice paddy implies a relatively advanced rice cultivation in this area during the middle-late Holocene. Other than phytoliths, the high percentage of Oryza-type Poaceae pollen (larger than 40 µm) supplied robust evidence for the existence of rice paddy. Moreover, the fact that the farther from the rice paddy, the lower the concentration and percentage of Poaceae pollen also proves that the dispersal and deposition of pollen is inversely proportional to the distance.

  12. Pollen and Phytolith Evidence for Rice Cultivation and Vegetation Change during the Mid-Late Holocene at the Jiangli Site, Suzhou, East China

    PubMed Central

    Qiu, Zhenwei; Jiang, Hongen; Ding, Jinlong; Hu, Yaowu; Shang, Xue

    2014-01-01

    Pollen and phytolith analyses were undertaken at the Jiangli site in Suzhou, Jiangsu Province, combined with studies on macrofossils by flotation. The concentration of pollen decreased while the percentage of Poaceae pollen in the profile increased from the late phase of the Majiabang Culture to the Songze Culture suggesting that human impact on the local environment intensified gradually. The discovery of rice paddy implies a relatively advanced rice cultivation in this area during the middle-late Holocene. Other than phytoliths, the high percentage of Oryza-type Poaceae pollen (larger than 40 µm) supplied robust evidence for the existence of rice paddy. Moreover, the fact that the farther from the rice paddy, the lower the concentration and percentage of Poaceae pollen also proves that the dispersal and deposition of pollen is inversely proportional to the distance. PMID:24466254

  13. Comment on "Energy storage via polyvinylidene fluoride dielectric on the counter electrode of dye-sensitized solar cells" by Jiang et al.

    NASA Astrophysics Data System (ADS)

    Dao, Van-Duong

    2017-01-01

    A recent paper by Jiang et al. [1] provides a modifying of counter electrode (CE) with a poly (vinylidene fluoride) (PVDF) composite could be generated both energy conversion and storage. As the results, the generation of energy storage is due to the high dielectric constant of PVDF layer. Herein, we pointed out the energy storage can be formed with electrolyte consisted of Li+ ions and without using PVDF layer. This study also discusses the formation of energy storage at the CE. The finding in this work may pay the way for further development of an efficient CE for the large-scale applications of dye-sensitized solar cells (DSCs) in the future, and energy storage of DSCs.

  14. Development of HAN-based Liquid Propellant Thruster

    NASA Astrophysics Data System (ADS)

    Hisatsune, K.; Izumi, J.; Tsutaya, H.; Furukawa, K.

    2004-10-01

    Many of propellants that are applied to the conventional spacecraft propulsion system are toxic propellants. Because of its toxicity, considering the environmental pollution or safety on handling, it will be necessary to apply the "green" propellant to the spacecraft propulsion system. The purpose of this study is to apply HAN based liquid propellant (LP1846) to mono propellant thruster. Compared to the hydrazine that is used in conventional mono propellant thruster, HAN based propellant is not only lower toxic but also can obtain higher specific impulse. Moreover, HAN based propellant can be decomposed by the catalyst. It means there are the possibility of applying to the mono propellant thruster that can leads to the high reliability of the propulsion system.[1],[2] However, there are two technical subjects, to apply HAN based propellant to the mono propellant thruster. One is the high combustion temperature. The catalyst will be damaged under high temperature condition. The other is the low catalytic activity. It is the serious problem on application of HAN based propellant to the mono propellant thruster that is used for attitude control of spacecraft. To improve the catalytic activity of HAN based propellant, it is necessary to screen the best catalyst for HAN based propellant. The adsorption analysis is conducted by Monte Carlo Simulation to screen the catalyst metal for HAN and TEAN. The result of analysis shows the Iridium is the best catalyst metal for HAN and TEAN. Iridium is the catalyst metal that is used at conventional mono propellant thruster catalyst Shell405. Then, to confirm the result of analysis, the reaction test about catalyst is conducted. The result of this test is the same as the result of adsorption analysis. That means the adsorption analysis is effective in screening the catalyst metal. At the evaluating test, the various types of carrier of catalyst are also compared to Shell 405 to improve catalytic activity. The test result shows the

  15. Evaluation of HAN-TEAN Stabilizers using Microcalorimetry

    NASA Technical Reports Server (NTRS)

    Hornung, Steven D.; Davis, Dennis D.; Chang, Craig H.; Baker, David L.

    1997-01-01

    HAN-TEAN (hydroxylammonium nitrate - triethanolammonium nitrate - in water) is being considered for various propellant applications. This propellant has advantages in terms of insensitivity to impact and fire, low vapor pressure and environmentally benign reaction products. One office concerns with HAN-TEAN is its stability and shelf-life, especially when contaminated with trace metals. Stabilizer systems, consisting of anti-oxidants and/or chealating agents were investigated for their ability to control the decomposition of HAN-TEAN. Isothermal microcalorimetry, an ultrasensitive heat measurement technique, was used to monitor the decomposition of HANTEAN at near ambient temperatures. Isothermal microcalorimetry measures the heat flow from a reaction vessel into a surrounding heat sink. Microcalorimetry is approximately 1,000 times more sensitive than accelerating rate calorimetry (ARC) or differential scanning calorimetry (DSC) for measuring heat flow. Samples of HAN-TEAN containing the stabilizers were spiked with 50 ppm iron and the heat evolution monitored for a period of at least 30 days. Ten stabilizer combinations were tested and the rates of HAN-TEAN decomposition were lowered by 74 to 95 percent in the presence of iron.

  16. The participation of Hans Hinselmann in medical experiments at Auschwitz.

    PubMed

    Halioua, Bruno

    2010-01-01

    A medical experiment of precancerous screenings of the cervix with colposcopy involving Jewish inmates was conducted in 1943 at Auschwitz by Eduard Wirths, the chief camp physician (SS-Standortarzt), his brother, Helmut Wirths, gynecologist of Hamburg-Altona with the complicity of the prestigious professor Hans Hinselmann who developed the colposcope. This medical experiment illustrates the relationships between physicians carrying out experiments at Auschwitz and prestigious medical research of the most reputed German universities. Hans Hinselmann should be remembered as complicit with atrocities and should not continue to be honored. Physicians must know what tortures and atrocities were committed for the promotion of the development of colposcopy.

  17. HAN-Based Monopropellant Propulsion System with Applications

    NASA Technical Reports Server (NTRS)

    Jankovsky, Robert S.; Oleson, Steven R.

    1997-01-01

    NASA is developing a new monopropellant propulsion system for small, cost-driven spacecraft with AV requirements in the range of 10-150 m/sec. This system is based on a hydroxylammonium nitrate (HAN)/water/fuel monopropellant blend which is extremely dense, environmentally benign, and promises good performance and simplicity. State-of-art (SOA) small spacecraft typically employ either hydrazine or high pressure stored gas. Herein, a 'typical' small satellite bus is used to illustrate how a HAN-based monopropellant propulsion system fulfills small satellite propulsion requirements by providing mass and/or volume savings of SOA hydrazine monopropellants with the cost benefits of a stored nitrogen gas.

  18. Language, Literacy, and Nationalism: Taiwan's Orthographic Transition from the Perspective of Han Sphere

    ERIC Educational Resources Information Center

    Chiung, Wi-vun Taiffalo

    2007-01-01

    The Han sphere, including Vietnam, Korea, Japan, Taiwan and China, adopted Han characters and classical Han writing as the official written language before the 20th century. However, great changes came with the advent of the 20th century. After World War II, Han characters in Vietnam and Korea were officially replaced by the romanised "Chu…

  19. A Study of the Transformation of Xinjiang Higher Education Institutions from the Minority-Han Dual-Track System to the Minority-Han Unification Model

    ERIC Educational Resources Information Center

    Simayi, Zuliyati

    2015-01-01

    "Minority-Han unified education" has already made some progress in the reform and practice of higher education in Xinjiang and accumulated precious experience. But presently minority-Han unified education in Xinjiang higher education institutions is still stuck in the trial stage in which there are many Han students and few minority…

  20. Hans Kueng's Paradigm Theology and Some Educational Implications.

    ERIC Educational Resources Information Center

    von Dietze, Erich

    1998-01-01

    Identifies some controversies and issues that arise from Hans Kueng's adaptation of Thomas Kuhn's paradigm theory to theology, particularly those associated with the conflict presented between the educational theory advocated by Kuhn and that contained in Kueng's wider thinking. Argues that the dilemma presents ironies that Kueng must somehow…

  1. ["Snow" and "Walpurgisnacht". Hans Castorp's exemplary maturation crises in "Zauberberg"].

    PubMed

    Heinrich, K; Walter, C

    1995-01-01

    On the occasion of a rather incidental visit in the sanatorium "Berghof" at Davos, Hans Castorp, the--as to his primary personality--asthenic and low-profile protagonist of the "Zauberberg" is gradually getting caught up in the maelstrom of the there prevailing timelessness and irresponsibility, this being interrupted solely by two tapering to crisis episodes: his amouressness to Mme. Chauchat as an erotic crisis and by the visionary daydream during a snowstorm about the abilities of men as a cognitive, mental crisis. Both events are triggered by a pathoid irritability, following the maxim of Th. Mann that illness, decay and death as borderline experiences may be the presupposition for cognition and reversal. Both crises end without consequences--the "Zauberberg" is the negation of the novel of education and development in the narrower sense. The unsuccessfulness and undecidedness of Hans Castorp's existence culminate in the open end of the novel, regarding his surviving on the battle field, and is in strict contrast to Adrian Leverkühn's determined autoinfection with Lues with the aim of artistic perfection and the creative break-through of "Doctor Faustus". Hans Castorp's regression and self-fragmentation within the decadent-morbid atmosphere of the sanatorium lead to his storming into the battles of the First World War as a last and existential crisis; it is here where finally the individual and national fate are merging. Hans Castorp becomes the paradigma of the German pre-war bourgeoisie and its crisis-prone development.

  2. Anti-Diabetic Effects of Jiang Tang Xiao Ke Granule via PI3K/Akt Signalling Pathway in Type 2 Diabetes KKAy Mice

    PubMed Central

    Zhao, Dandan; Mu, Qianqian; Zuo, Jiacheng; Ma, Yue; Zhang, Yi; Mo, Fangfang; Zhang, Dongwei; Jiang, Guangjian; Wu, Rui; Gao, Sihua

    2017-01-01

    Jiang Tang Xiao Ke (JTXK) granule, a Chinese herbal formula, has been used clinically to treat type 2 diabetes (T2DM) for decades. Our previous studies showed that JTXK granule exhibited anti-diabetic and anti-oxidative functions in experimental diabetic rats induced by a high fat diet and streptozotocin. However, the underlying mechanisms remain poorly understood. Herein, we aimed to investigate the therapeutic effect of JTXK granule on T2DM KKAy mice and the possible associations with skeletal muscle in the current study. Our results showed that JTXK granule significantly reduced food intake and body weight in T2DM KKAy mice. JTXK granule treatment also decreased the blood glucose and HbA1c levels and increased the insulin sensitivity in a time-dependent manner. Additionally, it ameliorated hyperlipidaemia and induced a lower free fatty acid level, displaying an effect on disorders of lipid metabolism. JTXK granule significantly increased the expression of insulin receptor substrate-1 (IRS-1), phosphoinositide 3-kinase (PI3K), protein kinase B (PKB/Akt) and glucose transporter 4 (Glut4) and decreased the expression of glycogen synthase kinase 3β (GSK3β). We concluded that JTXK granule is an effective drug for T2DM through regulating the PI3K/Akt signalling pathway in skeletal muscle. PMID:28045971

  3. Pharmacokinetic study of six flavones in rat plasma and tissues after oral administration of 'JiangYaBiFeng' using SPE-HPLC-DAD.

    PubMed

    Zeng, Hua-jin; Yang, Ran; Guo, Cheng; Wang, Qing-wen; Qu, Ling-bo; Li, Jian-jun

    2011-12-05

    In this study, a high performance liquid chromatography (HPLC) coupled with diode array detection (DAD) for simultaneous determination of six flavones including baicalein, sophoricoside, rutin, baicalin, quercetin and genistein in rat plasma and tissues after oral administration of JiangYaBifeng (JYBF) tablets was developed. The investigated analytes in plasma and tissues were extracted and purified with liquid-liquid extraction and solid phase extraction (SPE). Chromatographic separation was accomplished on a DIONEX Acclaim C18 column (250mm×4.6mm, 5.0μm particle size) with a simple linear gradient elution. The calibration curves for all the flavones had good linearity in the measured range with R(2) higher than 0.9983. The relative errors (REs) of the intra- and inter-day accuracy at different flavones levels were all less than ±10%. The proposed method enables unambiguous identification and quantification of investigated flavones in vivo. This is the first report on determination of the major flavones in rat plasma and tissues after oral administration of JYBF tablets. The results provided a meaningful basis for evaluating the clinical application of this medicine.

  4. Identification of the effective constituents for anti-inflammatory activity of Ju-Zhi-Jiang-Tang, an ancient traditional Chinese medicine formula.

    PubMed

    Wang, Shufang; Chen, Pinghong; Jiang, Wei; Wu, Leihong; Chen, Lulin; Fan, Xiaohui; Wang, Yi; Cheng, Yiyu

    2014-06-27

    The anti-inflammatory constituents of Ju-Zhi-Jiang-Tang (JZJT), a formula used for thousands of years in China, were identified by LC-MS and pharmacological activity evaluation. In this study, the whole extract of formula was separated into multiple components to facilitate the analytical process. To characterize their contributions to pharmacological activity of formula, activity indexes of constituents were proposed and calculated for the first time, which integrated the chemical and pharmacological information of multiple components. Among the 151 constituents detected in JZJT by LC-Q-TOF-MS and LC-IT-MS, a total number of 108 constituents were identified unambiguously or tentatively, including eighteen potential novel compounds. And, the structures of some constituents were confirmed by NMR. According to their activity indexes, polymethoxy flavones were indicated as the major active constituents responsible for the anti-inflammatory activity of JZJT. To verify the feasibility of activity indexes in predicting the active constituents, nine compounds with positive and negative index values were selected to validate their anti-inflammatory activity in vitro. The results showed that two polymethoxy flavones with higher positive index values, i.e., nobiletin and tangeretin can significantly exert anti-inflammatory effects, while other compounds with negative values did not show any activity. In conclusion, our results indicated the proposed approach might be an efficient and rapid way to identify active constituents of TCM formulae.

  5. Jiang Tang Xiao Ke Granule, a Classic Chinese Herbal Formula, Improves the Effect of Metformin on Lipid and Glucose Metabolism in Diabetic Mice

    PubMed Central

    Zhang, Yi; An, Hong; Pan, Si-Yuan; Zhao, Dan-Dan; Zuo, Jia-Cheng; Li, Xiao-Ke; Gao, Ya; Mu, Qian-Qian; Yu, Na; Ma, Yue; Mo, Fang-Fang; Gao, Si-Hua

    2016-01-01

    In the present study, the hypoglycemic, hypolipidemic, and antioxidative effects of metformin (MET) combined with Jiang Tang Xiao Ke (JTXK) granule derived from the “Di Huang Tang” were evaluated in mice with type 2 diabetes mellitus (DM) induced by high-fat diet/streptozotocin. DM mice were orally treated with MET (0.19 g/kg) either alone or combined with different doses (1.75, 3.5, or 7 g/kg) of JTXK for 4 weeks. Results showed that the serum and hepatic glucose, lipids, and oxidative stress levels were elevated in DM mice, when compared with the normal mice. MET treatment decreased FBG and serum glucagon levels of DM mice. Combination treatment with MET and JTXK 3.5 g/kg increased the hypoglycemia and insulin sensitivity at 4 weeks when compared with the DM mice treated with MET alone. However, neither MET nor MET/JTXK treatment could completely reverse the hyperglycemia in DM mice. JTXK enhanced the serum triglyceride (TG) and hepatic lipid-lowering effect of MET in a dose-dependent manner in DM mice. JTXK 1.75 and 3.5 g/kg improved the hepatoprotective effect of MET in DM mice. Synergistic effect of combination treatment with MET and JTXK on antioxidant stress was also found in DM mice compared with MET alone. PMID:27418937

  6. On the Reliability of Han Dynasty Solar Eclipse Records

    NASA Astrophysics Data System (ADS)

    Pankenier, David W.

    2012-11-01

    The veracity of early Chinese records of astronomical observations has been questioned, principally based on two early studies from the 1950s, which suggested that political motives may have led scholar-officials at court to fabricate astral omens. Here I revisit the Han Dynasty (206 BCE-220 CE) solar eclipse reports to determine whether the charge has merit for those first four centuries of the imperial period. All 127 dated solar eclipses reported in the official sources are checked for accuracy against the "Five Millennium Catalog of Solar Eclipses" produced by Espenak and Meeus (2009). The Han Dynasty records prove remarkably accurate. Copyists' errors do occur, but there are only rare instances of totally erroneous reports, none of which is provably the result of politically-motivated manipulation.

  7. Combustion of Han-Based Monopropellant Droplets in Reduced Gravity

    NASA Technical Reports Server (NTRS)

    Shaw, B. D.

    1999-01-01

    The objective of this research is to study combustion of monopropellant droplets and monopropellant droplet components in reduced-gravity environments so that spherical symmetry is strongly promoted. The experiments will use hydroxylammonium nitrate (HAN, chemical formula NH3OHNO3) based monopropellants. This class of monopropellant is selected for study because of its current relevance and also because it is relatively benign and safe to work with. The experimental studies will allow for accurate determination of fundamental data on deflagration rates, gas-phase temperature profiles, transient gas-phase flame behaviors, the onset of bubbling in droplets at lower pressures, and the low-pressure deflagration limit. The theoretical studies will provide rational models of deflagration mechanisms of HAN-based liquid propellants. Besides advancing fundamental knowledge, the proposed research should aid in applications (e.g., spacecraft thrusters and liquid propellant guns) of this unique class of monopropellants.

  8. A new haplogroup pattern displayed in Fujian Han in China.

    PubMed

    Yu, Min; Zhang, Yongli; Xue, Yali; Chen, Feng; Wang, Qi; Huang, Xiaoyi; Wang, Baiqiu; Yu, Yang; Liu, An; Ma, Linlin; Shi, Rongqian; Lu, Fuqu; Shi, Zhongcheng; Zhang, Yu; Cheng, Wenhong; Ai, Qionghua; Xu, Fang; Huang, Chengbin; Chen, Baibin; Yang, Huanjie; Kang, Xianghua; Sun, Yanyang; Zhang, Guiyin; Li, Pu; Fu, Songbin

    2002-01-01

    Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y chromosome were used to screen Fujian Han by allele-specific polymerase chain reaction. The results indicated that the M9G marker was highly prevalent (96.20%), suggesting a significant genetic drift. In addition, M122C frequency was only 22.78%, and M45A and M103T were default. The distinctive haplogroup frequencies (H1, H5, and H6/7/8) imply that the haplogroup pattern is a relatively ancestral and interim type.

  9. Migraine Susceptibility Genes in Han Chinese of Fujian Province

    PubMed Central

    Lin, Qi-fang; Chen, Zi-chun; Fu, Xian-guo; Yang, Jing; Cao, Luo-yuan; Yao, Long-teng; Xin, Yong-tong

    2017-01-01

    Background and Purpose Five single-nucleotide polymorphisms (SNPs) (rs4379368, rs10504861, rs10915437, rs12134493 and rs13208321) were recently identified in a Western population with migraine. These migraine-associated SNPs have not been evaluated in a Han Chinese population. This study investigated the associations of specific SNPs with migraine in a Han population. Methods This was a case-control study of Han Chinese residing in Fujian Province. Polymerase chain reaction—restriction-fragment-length polymorphism analysis and direct sequencing were used to characterize the relationships of SNPs in a control group of 200 subjects and in a migraine group of 201 patients. Results The frequencies of the five SNPs did not differ between patients with migraine and healthy non migraine controls. However, subgroup analysis indicated certain SNPs were more strongly associated with migraine with aura or migraine without aura than with controls. The CT genotype of rs4379368 was more common in migraine patients with aura (75%) than in migraine patients without aura (47.9%) and controls (48.5%) (p<0.05), and the TT genotype of rs10504861 was more common in migraine patients with aura than in controls (8.3% vs. 0.5%) (p<0.05). Meanwhile, the CC genotype of rs12134493 was less common in migraine patients without aura than in controls (80.6% vs. 88%) (p<0.05). Conclusions Our findings suggest that the rs4379368 and rs10504861 SNPs are markers for susceptibility to migraine with aura and that rs12134493 is a marker for the risk of migraine without aura in this Han population. Future studies should further explore if these associations vary by ethnicity. PMID:28079315

  10. CROSS SECTIONAL STUDY OF NUTRITIONAL STATUS IN OLDER HAN WOMEN.

    PubMed

    Jun, Tao; Yuan, Zhong

    2016-01-01

    Abstract. Malnutrition is one of the most prevalent problems in older people, but there is little information about the nutritional status of the older women in China. Therefore, this study was conducted to investigate the nutritional status and clinically correlated factors for malnutrition in older Han women in China. In total, 2,556 hospital- and community-based Han women aged 60 years or older were recruited between May 2007 and December 2014. All women completed comprehensive geriatric assessment, and the Mini Nutritional Assessment Short Form (MNA-SF) was used to assess the nutritional status. The clinically corre- lated factors for malnutrition were also analyzed, including social factors, health status, and dietary behavior. The average age of these women was 75.9 ± 9.4 years, and 63.8% women lived in urban areas. Of the total respondents, 344 and 716 women were classified as malnutrition and at risk of malnutrition, respectively. Five factors were independently and positively correlated with poor nutrition, including chronic obstructive pulmonary disease (COPD), gastrointestinal disease, depression, cognitive impairment, and comorbidity (≥ 2). Three factors were independently and negatively correlated with poor nutrition, including economic status, meat intake, and fish intake. The older Han women with these five health problems should be given more attention with regards to their nutritional status. Improving economic status, eating more meat and fish were recommended for preventing poor nutrition in older women.

  11. Freud's Little Oedipus: Hans as exception to the oedipal rule.

    PubMed

    Ahbel-Rappe, Karin

    2008-09-01

    Freud's "The Analysis of a Phobia in a Five-Year-Old Boy" is regarded by Freud and by analytic readers and commentators as a prototype of his conception of the oedipus complex. A literary methodology is used to show that the interpretation of the oedipus complex at work in Freud's text in fact differs from Freud's standard view of it. While studying the paper as text, not as case report, may obscure or distort some clinical matters, it is valuable in that it makes legible a sort of theoretical unconscious in the text. In contrast to Freud's typically tragic view of the oedipus complex (in the tradition of ancient Greek tragedy), the Hans study evokes a comic vision (in the tradition of Greek New Comedy). This comic vision allows Hans a happy imaginative ending to the oedipal dilemma, challenges certain epistemic pretensions, and emphasizes the oedipus complex as a set of abiding existential questions. Given the deep link between Freud"s oedipus concept and a tragic view of human life, this departure in the Hans paper is a fascinating anomaly.

  12. Dissolution of Plutonium Metal Using a HAN Process

    SciTech Connect

    CROWDER, MARKL.

    2004-06-30

    Thermal stability tests were conducted with a nitric acid (HNO3)/hydroxylammonium nitrate (HAN)/potassium fluoride (KF) solution. The solution has great potential for use in plutonium dissolution because of the small quantity of hydrogen and other offgases produced. Tests were carried out in a Reactive Systems Screening Tool (RSST). The RSST is a calorimeter equipped with temperature and pressure probes as well as a heater that can heat a liquid sample at a programmed rate. In most cases, the calorimeter was pressurized with nitrogen to reduce evaporation of the liquid sample during heating. For the proposed solution, an autocatalytic reaction occurred between 113 and 131 degrees Celsius with 300 psig or 50 psig nitrogen inside the RSST vapor space. At ambient pressure, the solution boiled at about 110 degrees Celsius. After extensive boiling, the concentrations of HNO3 and HAN increased and the autocatalytic reaction occurred. Tests were also conducted with 1000 ppm Fe present in the solution. The range of the autocatalytic reaction initiation temperature was reduced to 105-120.5 degrees Celsius. With iron at ambient pressure, boiling still occurred above 100 degrees Celsius prior to the autocatalytic reaction, which occurred at 108-109 degrees Celsius. These results demonstrated the stability of the proposed HAN flowsheet, for which the planned dissolving temperature is 50-60 degrees Celsius. Additional tests were carried out with more concentrated solutions to further characterize the autocatalytic reaction initiation temperature. Increasing the nitric acid concentration to 3M decreased the reaction initiation temperature to 102-103 degrees Celsius. Increasing the HAN concentration increased the temperature rise of the reaction from 10-30 degrees Celsius to greater than 40 degrees Celsius. Increasing both reactants-to 3M nitric acid and 0.9M HAN-yielded a reaction initiation temperature of 91 degrees Celsius (with or without iron), the lowest observed in this

  13. 78 FR 15802 - Culturally Significant Objects Imported for Exhibition Determinations: “Hans Richter: Encounters”

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-12

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF STATE Culturally Significant Objects Imported for Exhibition Determinations: ``Hans Richter: Encounters'' SUMMARY... objects to be included in the exhibition ``Hans Richter: Encounters,'' imported from abroad for...

  14. Mg isotopes geochemistry in the Han River basin, Korea

    NASA Astrophysics Data System (ADS)

    Ryu, J.; Lee, S.; Lee, K.; Shin, H.

    2012-12-01

    The Han River basin is the largest river system in South Korea, consisting of two major branches: the North Han River (NHR) and South Han River (SHR). Distinct differences in the lithology between the NHR and SHR (silicates vs. carbonates) allow us to constrain the behavior of Mg isotopes during chemical weathering. We collected water samples as well as rock samples in summer 2011. The lithological difference between the NHR and SHR is reflected in major ions and dissolved Sr isotope compositions; lower major ion concentrations and high 87Sr/86Sr ratios in the NHR but higher major ion concentrations and low 87Sr/86Sr ratios in the SHR. Dissolved Mg in the NHR yielded heavier Mg isotope compositions, ranging from -1.14 to -0.67‰ of δ26MgDSM3 with an average of -0.85‰ (n=6), than that in the SHR, ranging from -1.34 to -0.74‰ of δ26MgDSM3 with an average of -1.15‰ (n=6). The river waters draining only carbonates have much lower δ26MgDSM3 values (-1.34 to -1.27‰, n=3), similar to other rivers draining carbonates. This implies that biological fractionation such as plant uptake would be limited because a geographical environment in the Han River basin is almost same. Mineral saturation indices indicate that the river waters are undersaturated with respect to primary and secondary minerals such as smectite but waters draining the carbonates are oversaturated with respect to calcite and dolomite. Hence, the lower δ26MgDSM3 values in the NHR relative to source rocks could be mainly attributed to the fractionation during silicate mineral dissolution. Contrary to the NHR, δ26MgDSM3 values in the SHR indistinguishable from those of the carbonates imply that carbonates dissolution/precipitation would not fractionate Mg isotopes. This study indicates that Mg isotopes could be used to constrain riverine Mg sources.

  15. Release of ammonia from HAN-type PHA

    SciTech Connect

    Zamecnik, J.R.

    1992-06-10

    A preliminary design basis for ammonia scrubbers in the DWPF has been issued. This design basis is based on a theoretical model of ammonia evolution from the SRAT, SME and RCT. It is desirable to acquire actual process data on ammonia evolution prior to performing detailed design of scrubbers for DWPF. The evolution of ammonia from the SRAT and SME in the Integrated DWPF Melter System (IDMS) was investigated during the HM4 run. In this run, Precipitate Hydrolysis Aqueous (PHA), which was made in the Precipitate Hydrolysis Experimental Facility (PHEF) using the HAN (hydroxylamine nitrate) process was used, thus resulting in PHA with a high concentration of ammonium ion.

  16. The anatomist Hans Elias: A Jewish German in exile.

    PubMed

    Hildebrandt, S

    2012-04-01

    Hans Elias (1907 to 1985) was an anatomist, an educator, a mathematician, a cinematographer, a painter, and a sculptor. Above all, he was a German of Jewish descent, who had to leave his home country because of the policies of the National Socialist (NS) regime. He spent his life in exile, first in Italy and then in the United States. His biography is exemplary for a generation of younger expatriates from National Socialist Germany who had to find a new professional career under difficult circumstances. Elias was a greatly productive morphologist whose artistic talent led to the foundation of the new science of stereology and made him an expert in scientific cinematography. He struggled hard to fulfill his own high expectations of himself in terms of his effectiveness as a scientist, educator, and politically acting man in this world. Throughout his life this strong-willed and outspoken man never lost his great fondness for Germany and many of its people, while reserving some of his sharpest criticism for fellow anatomists who were active in National Socialist Germany, among them his friend Hermann Stieve, Max Clara, and Heinrich von Hayek. Hans Elias' life is well documented in his unpublished diaries and memoirs, and thus allows fresh insights into a time period when some anatomists were among the first victims of NS policies and other anatomists became involved in the execution of such policies.

  17. Combining the Hanning windowed interpolated FFT in both directions

    NASA Astrophysics Data System (ADS)

    Chen, Kui Fu; Li, Yan Feng

    2008-06-01

    The interpolated fast Fourier transform (IFFT) has been proposed as a way to eliminate the picket fence effect (PFE) of the fast Fourier transform. The modulus based IFFT, cited in most relevant references, makes use of only the 1st and 2nd highest spectral lines. An approach using three principal spectral lines is proposed. This new approach combines both directions of the complex spectrum based IFFT with the Hanning window. The optimal weight to minimize the estimation variance is established on the first order Taylor series expansion of noise interference. A numerical simulation is carried out, and the results are compared with the Cramer-Rao bound. It is demonstrated that the proposed approach has a lower estimation variance than the two-spectral-line approach. The improvement depends on the extent of sampling deviating from the coherent condition, and the best is decreasing variance by 2/7. However, it is also shown that the estimation variance of the windowed IFFT with the Hanning is significantly higher than that of without windowing.

  18. Sir Hans Sloane (1660–1735): his life and legacy

    PubMed Central

    Hawkins, Stanley A

    2010-01-01

    Sir Hans Sloane was born in Killyleagh, Co Down, the seventh and last son of Alexander Sloane. His father, who was of Scottish ancestry, had a long association with James Hamilton, Earl of Clanbrassil who had acquired the castle in Killyleagh and extensive estates in east Down. The Hamilton family took an interest in the education of the Sloane children, and much of the early tuition of Hans was conducted within the library of Killyleagh Castle. In 1679 he moved to London to study medicine and botany. In 1683, he continued his studies in Paris and Montpellier, and graduated from the University of Orange. On his return to London, he became a protégé of Thomas Sydenham. In 1687 he was appointed physician to the Duke of Albemarle and surgeon to the West Indies fleet. While in Jamaica he added countless specimens to his collections, continuing a lifetime passion. He also invented milk chocolate there. Following the untimely death of the duke, he returned to London and built up a fashionable medical practice. He married Elizabeth Langley, heiress of a wealthy city alderman, and widow of a sugar planter in Jamaica. They set up house in Great Russell Street. The family home accommodated his burgeoning collections of books, specimens and curiosities. In 1685 he was elected a Fellow of the Royal Society, later becoming the honorary secretary and president. Following his death, his collections were bought for the nation and formed the foundation of the British Museum. PMID:20844729

  19. Ovarian proteomic study reveals the possible molecular mechanism for hyperprolificacy of Small Tail Han sheep

    PubMed Central

    Miao, Xiangyang; Luo, Qingmiao; Zhao, Huijing; Qin, Xiaoyu

    2016-01-01

    Small Tail Han sheep is a widely bred farm animal in China which has attracted lots of attention due to their high prolificacy and year-round estrus. However, the molecular mechanism of its fecundity remains unrevealed. The FecB gene polymorphism has been found to be associated with the ovulation rate and litter size of sheep. In the present study, we constructed an iTRAQ-based quantitative proteomics analysis to compare the ovarian proteomes of FecB+FecB+ genotype Small Tail Han sheep ewes (Han ++), FecBBFecBB Han ewes (Han BB) and Dorset ewes (Dorset). Hundreds of differentially expressed proteins between each two groups were identified; GO and KEGG pathway analysis indicated that the expressions of those proteins involved in ribosome assembly, protein translation and mTOR pathway between Dorset and both Han groups were highly different. Between Han ++ and Han BB groups, higher level of protein expressions were related to mitochondrial oxidation functions such as oxidoreductase activity, cytochrome-c oxidase activity and electron carrier activity. This was identified in Han BB group, which may contribute to the elevated ovulation rate of Han BB ewes. In conclusion, our work provided a prospective understanding of the molecular mechanism for high prolificacy of Small Tail Han sheep. PMID:27271055

  20. Radiolysis gases from nitric acid solutions containing HSA and HAN

    SciTech Connect

    Smith, J.R.

    1994-10-28

    The concentration of hydrogen (H{sub 2}) in the radiolytically produced off-gas from 2.76-4.25M HNO{sub 3}/PU solutions has been found to be greatly reduced in the presence of sulfamic acid (HSA) and hydroxylamine nitrate (HAN). The H{sub 2} concentration ([H{sub 2}]) is reduced from 35 percent to about 4 percent by dilution caused from an increase in the production rates of nitrogen (N{sub 2}), nitrous oxide (N{sub 2}O), and oxygen (O{sub 2}) gases. The generation rate of H{sub 2} was not affected by HSA or HAN giving a measured radiolytic yield, G(H{sub 2}), value of 0.201 molecules/100 eV for 2.765M NO{sub 3}{sup -} solution (a value of 0.213 is predicted from previous data). The G(H{sub 2}) values are dependent on the solution nitrate concentration ([NO{sub 3}{sup -}]). The generation rates of N{sub 2}, N{sub 2}O, and O{sub 2} are not dependent on the [NO{sub 3}{sup -}] in this narrow range, but are dependent on the presence of HSA and the concentration of HAN. The percentage [H{sub 2}] for the 2.5 to 3.0M NO{sub 3}{sup -} range expected in the off- from the FB-Line Pu{sup +3} Hold Tanks is conservatively estimated to be about 3.5 to 4.5 % for Pu + 3 solutions initially containing 0.023M HAN/0.165M HSA. The upper limit [H{sub 2}] may actually be about 4.1 % (4.3 % at 90 % confidence limits) but more {open_quotes}initial{close_quotes} off-gas rate data is needed at about 2.9M [NO{sub 3}{sup -}] in Pu{sup +3} solution for verification. Addition of ascorbic acid had no effect on the off-gas rate of Pu{sup +3} solutions containing HSA and NO{sub 3}{sup -} concentrations higher than those expected in the hold tanks. The maximum {open_quotes}hold time{close_quotes} for 50 grams/liter Pu{sup +3}/0.165M HSA/0.023M HAN/2.5-3.0M HNO{sub 3} solution is 20.3{+-}2.1 days. After this time the HSA initially present will become exhausted and the [H{sub 2}] will increase to 35 %. This hold time may be longer in [NO{sub 3}{sup -}] < 3.0M, but again more study is needed.

  1. [Was Klaus von Mantrei the teacher of Hans von Gersdorff?].

    PubMed

    Vollmuth, R

    1996-01-01

    One of the most popular representatives of surgery at the end of the middle ages and the beginning modern era is the Strassburgian surgeon Hans von Gersdorff. Still we do not know very much about his life and his surgical teachers. Only one meister Nicklaus, called Mulartzt, is mentioned as such by the remarks in Gersdorffs 'Feldbuch der Wundarznei', but till today this surgeon could not be identified in more detail. This article now holds the thesis, that meister Nicklaus is probably identical with Klaus von Matrei (Metry), a well-known surgeon of the late 15th century. That cannot be fully proved yet, but a number of coinciding characteristics between the two and some further indications, that are explained, seem so significant, that the thesis can hardly be doubted.

  2. [Hans Selye, the grandmaster of creativity and originality].

    PubMed

    Somogyi, Árpád

    2015-08-30

    Hans Selye, the father of the stress concept, was a giant of science of the twentieth century. Beyond his best-known work on stress, he also made several discoveries on various other fields of experimental medicine. He described and characterized various pluricausal diseases. In addition, he made pivotal contributions to the broad field of endocrinology, especially to the classification of steroids and to our better understanding of their mode of action. He developed surgical technics and experimental animal models suitable for studying the pathogenesis and prevention of human diseases. Selye was an extremely well educated, highly intelligent and disciplined individual, an original and creative scientist, an outstanding teacher, a philosopher, a prolific author, a fabulous communicator and a gifted organizer successfully establishing, developing and managing a major academic research institution, the word-famous Institute of Experimental Medicine and Surgery of the University of Montreal.

  3. [A 100 year old thesis. Amanuensis Hans Christian Geelmuyden].

    PubMed

    Bremer, J

    1997-12-10

    Hans Christian Geelmuyden (1861-1945) was amanuensis (assistant professor) at the Institute of Physiology, University of Oslo from 1889 to 1931. In 1897 he was awarded the degree "Doctor of Medicine" for his thesis "Om aceton som stofvexelprodukt" (On acetone as a metabolic product). The Nobel laureate Feodor Lynen referred to this thesis, which was also published in German, stating that Geelmuyden was the first to establish that ketone bodies are formed from fatty acids. Geelmuyden also established that acetone is metabolized in rabbits and dogs. Geelmuyden was a prolific writer on fat metabolism and diabetes and wrote a series of extensive reviews on these topics in Ergebnisse der Physiologie. Geelmuyden was active in the treatment of diabetic patients.

  4. Genome-Wide Association of Heroin Dependence in Han Chinese

    PubMed Central

    Coleman, Jonathan R. I.; Ducci, Francesca; Aliev, Fazil; Newhouse, Stephen J.; Liu, Xiehe; Ma, Xiaohong; Wang, Yingcheng; Collier, David A.; Asherson, Philip; Li, Tao; Breen, Gerome

    2016-01-01

    Drug addiction is a costly and recurring healthcare problem, necessitating a need to understand risk factors and mechanisms of addiction, and to identify new biomarkers. To date, genome-wide association studies (GWAS) for heroin addiction have been limited; moreover they have been restricted to examining samples of European and African-American origin due to difficulty of recruiting samples from other populations. This is the first study to test a Han Chinese population; we performed a GWAS on a homogeneous sample of 370 Han Chinese subjects diagnosed with heroin dependence using the DSM-IV criteria and 134 ethnically matched controls. Analysis using the diagnostic criteria of heroin dependence yielded suggestive evidence for association between variants in the genes CCDC42 (coiled coil domain 42; p = 2.8x10-7) and BRSK2 (BR serine/threonine 2; p = 4.110−6). In addition, we found evidence for risk variants within the ARHGEF10 (Rho guanine nucleotide exchange factor 10) gene on chromosome 8 and variants in a region on chromosome 20q13, which is gene-poor but has a concentration of mRNAs and predicted miRNAs. Gene-based association analysis identified genome-wide significant association between variants in CCDC42 and heroin addiction. Additionally, when we investigated shared risk variants between heroin addiction and risk of other addiction-related and psychiatric phenotypes using polygenic risk scores, we found a suggestive relationship with variants predicting tobacco addiction, and a significant relationship with variants predicting schizophrenia. Our genome wide association study of heroin dependence provides data in a novel sample, with functionally plausible results and evidence of genetic data of value to the field. PMID:27936112

  5. Drosophila GPCR Han is a receptor for the circadian clock neuropeptide PDF.

    PubMed

    Hyun, Seogang; Lee, Youngseok; Hong, Sung-Tae; Bang, Sunhoe; Paik, Donggi; Kang, Jongkyun; Shin, Jinwhan; Lee, Jaejung; Jeon, Keunhye; Hwang, Seungyoon; Bae, Eunkyung; Kim, Jaeseob

    2005-10-20

    The pigment-dispersing factor (PDF) is a neuropeptide controlling circadian behavioral rhythms in Drosophila, but its receptor is not yet known. From a large-scale temperature preference behavior screen in Drosophila, we isolated a P insertion mutant that preferred different temperatures during the day and night. This mutation, which we named han, reduced the transcript level of CG13758. We found that Han was expressed specifically in 13 pairs of circadian clock neurons in the adult brain. han null flies showed arrhythmic circadian behavior in constant darkness. The behavioral characteristics of han null mutants were similar to those of pdf null mutants. We also found that PDF binds specifically to S2 cells expressing Han, which results in the elevation of cAMP synthesis. Therefore, we herein propose that Han is a PDF receptor regulating circadian behavioral rhythm through coordination of activities of clock neurons.

  6. Primo-Vascular System as Presented by Bong Han Kim

    PubMed Central

    Vodyanoy, Vitaly; Pustovyy, Oleg; Globa, Ludmila; Sorokulova, Iryna

    2015-01-01

    In the 1960s Bong Han Kim discovered and characterized a new vascular system. He was able to differentiate it clearly from vascular blood and lymph systems by the use of a variety of methods, which were available to him in the mid-20th century. He gave detailed characterization of the system and created comprehensive diagrams and photographs in his publications. He demonstrated that this system is composed of nodes and vessels, and it was responsible for tissue regeneration. However, he did not disclose in detail his methods. Consequently, his results are relatively obscure from the vantage point of contemporary scientists. The stains that Kim used had been perfected and had been in use for more than 100 years. Therefore, the names of the stains were directed to the explicit protocols for the usage with the particular cells or molecules. Traditionally, it was not normally necessary to describe the method used unless it is significantly deviated from the original method. In this present work, we have been able to disclose staining methods used by Kim. PMID:26379743

  7. [Hans von Hattingberg between psychoanalysis and National Socialism].

    PubMed

    Keifenheim, Katharina Eva

    2011-01-01

    Hans von Hattingberg (1879-1944) worked as a neurologist and psychoanalyst in Munich and Berlin from about 1910 to 1944. He was a prolific writer, but met with increasing disapproval from Freud and his circle. An advocate of the union of different psychotherapeutic schools, he was initially a marginal figure in the professional field. With Hitler's rise to power his career prospered: He was offered the position of a lecturer for psychotherapy and became head of the research department at the "Göring Institute". He came to prominence with his writings on the "Neue deutsche Seelenheilkunde" despite the fact that this was never his preferred topic. The main themes of his publications were marriage, love and female emancipation. Those works contain only little of the standard Nazi ideology of the time. Not only was Hattingberg never a member of the NSDAP (the ruling party), but in some respects he could conceivably be considered a member of the resistance. The article outlines the most important stages of Hattingberg's life and focuses on the question of how he positioned himself after 1933, when it became vital for him to reconcile psychoanalysis and National Socialism.

  8. On the Holocene evolution of Hans Tausen Iskappe (Greenland)

    NASA Astrophysics Data System (ADS)

    Zekollari, Harry; Huybrechts, Philippe

    2015-04-01

    Hans Tausen Iskappe (Greenland), situated at 82.5°N, 27.5°W, is world's northernmost ice cap. During several field campaigns in the 70s and 90s, its ice thickness was measured, mass balance and meteorological measurements occurred, and a 345 m deep ice core was drilled. From this ice core it is known that the ice cap (largely) disappeared during the Holocene Thermal Maximum. The present-day ice cap started building up some 3500-4000 years ago in a wetter and warmer climate than at present. Here we present first 3-D thermo-mechanical ice flow modelling results of the ice cap's evolution. We use field measurements and combine these with satellite derived surface velocities and palaeoclimatic reconstructions to understand the Holocene evolution of the ice cap and its present-day state. In our analysis we also investigate the effect of higher-order dynamics (compared to the Shallow Ice Approximation) and pay particular attention to different thresholds in the systems that could lead to a (partial) disappearance of the ice cap in the future.

  9. Risks associated with premature ovarian failure in Han Chinese women.

    PubMed

    Wang, Huidan; Chen, Haitao; Qin, Yingying; Shi, Zhuqing; Zhao, Xiaoming; Xu, Jianfeng; Ma, Bowen; Chen, Zi-Jiang

    2015-04-01

    In this retrospective study, the relationship between demographic characteristics, past medical history, general lifestyle habits and susceptibility of premature ovarian failure (POF) in Han Chinese population was investigated. Five hundred and fifty-three patients with POF and 400 women with normal ovarian function were recruited. A questionnaire was designed to gather information from responders. Logistic regression was carried out to calculate odds ratios (OR), 95% confidence intervals (95% CI) and P-values. History of pelvic surgery, mumps, having relatives with menstrual abnormalities and exposure to chemical agents were significantly associated with increased risk of POF (OR 5.53 [2.15 to 14.23]; 3.26 [2.38 to 4.47]; 28.12 [8.84 to 89.46]; 4.47 [2.09 to 9.58]). Vegetarian diet, tea and mineral water consumption reduced the risk of POF (OR 0.27 [0.19 to 0.37]; 0.04 [0.03 to 0.07]; 0.63 [0.47 to 0.85], respectively). Heredity, pelvic surgery, mumps and exposure to chemical agents were identified as risk factors for POF, whereas vegetarian diet, tea consumption and mineral water drinking were protective. Therefore, genetic consultation could help those women whose relatives manifested an early or premature menopause to avoid the consequences of possible premature ovarian function cessation. Avoidance of exposure to endocrine disrupters and flavonoids intake should be considered.

  10. Primo-Vascular System as Presented by Bong Han Kim.

    PubMed

    Vodyanoy, Vitaly; Pustovyy, Oleg; Globa, Ludmila; Sorokulova, Iryna

    2015-01-01

    In the 1960s Bong Han Kim discovered and characterized a new vascular system. He was able to differentiate it clearly from vascular blood and lymph systems by the use of a variety of methods, which were available to him in the mid-20th century. He gave detailed characterization of the system and created comprehensive diagrams and photographs in his publications. He demonstrated that this system is composed of nodes and vessels, and it was responsible for tissue regeneration. However, he did not disclose in detail his methods. Consequently, his results are relatively obscure from the vantage point of contemporary scientists. The stains that Kim used had been perfected and had been in use for more than 100 years. Therefore, the names of the stains were directed to the explicit protocols for the usage with the particular cells or molecules. Traditionally, it was not normally necessary to describe the method used unless it is significantly deviated from the original method. In this present work, we have been able to disclose staining methods used by Kim.

  11. Type 2 Diabetes in Han Chinese in Hubei

    NASA Astrophysics Data System (ADS)

    Abdo Saif Dehwah, Mustafa; Shuang, Zhang; Yan, Wang; Chan, Peng; Huang, Qing-Yang

    The aim of this study was to investigate the association between Pro12Ala polymorphism in the PPARγ2 gene and type 2 diabetes mellitus in Han Chinese in Hubei. Peroxisome proliferator activated receptorγ2 (PPARγ2) is a nuclear receptor plays a key role in regulation of adipocyte differentiation, lipid metabolism, insulin sensitivity and the development of type 2 diabetes mellitus (T2DM). There are various studies have provided evidence for the association between common Pro12Ala polymorphism in the PPARγ2 gene and type 2 diabetes mellitus, but the results are controversial and depend on ethnicity. So we conducted a case-control association study among 330 T2DM patients and 212 controls with family-based and random case-control designs. The genotypes of the PPARγ2 Pro12Ala polymorphism were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFL) method. The result indicated that the Pro12 allele was associated with type 2 diabetes in this study population.

  12. Actual use scene of Han-Character for proper name and coded character set

    NASA Astrophysics Data System (ADS)

    Kobayashi, Tatsuo

    This article discusses the following two issues. One is overview of standardization of Han-Character in coded character set including Universal coded character set (ISO/IEC 10646), with the relation to Japanese language policy of the government. The other is the difference and particularity of Han-Character usage for proper name and difficulty to implement in ICT systems.

  13. 'Little Hans': from his phobic episode to becoming an opera director.

    PubMed

    Vives, Jean-Michel

    2012-08-01

    'Little Hans' is one of the most highly commented cases in the psychoanalytic literature. His work as an opera director from 1925 in Europe and then in the United States of America is much less well known. This may seem especially surprising given that Freud very soon detects Hans's emerging interest in this subject. Yet Freud does not mention it either in 1909 when he reports the case, or when Hans visits him in 1922, even though Hans had already decided to become an opera director at this point. The author of this article endeavours to show how this artistic choice could be understood as a way of accommodating, in a double transference relationship with Freud and with his father, the unanalysed residue of the 'Krawall' (a term invented by Hans) and 'the black thing', both of which appeared during the phobic period.

  14. Dynamics and climate sensitivity of Hans Tausen Iskappe (Greenland)

    NASA Astrophysics Data System (ADS)

    Zekollari, Harry; Huybrechts, Philippe; Noël, Brice; van de Berg, Willem Jan; van den Broeke, Michiel

    2016-04-01

    Hans Tausen Iskappe (Greenland), situated at 82.5°N, 27.5°W, is the world's northernmost ice cap. During several field campaigns in the 70s and 90s, its ice thickness was measured, mass balance and meteorological measurements were made, and a 345 m deep ice core was drilled. From this ice core it is known that the ice cap (largely) disappeared during the Holocene Thermal Maximum. The present-day ice cap started building up some 3500-4500 years ago in a wetter and slightly warmer climate than at present. Here we present first 3-D thermo-mechanical higher-order ice flow modelling results of the ice cap's fundamental climate sensitivity. The surface mass balance model considers snowfall and meltwater runoff. Net precipitation is based on RACMO2.3 11-km output that is bi-linearly interpolated to 1 km. Runoff is calculated from a positive degree-day model that includes water retention in the snowpack with parameters derived from field measurements. The simulations are validated and calibrated with field observations complemented with satellite derived surface velocities. The ice cap geometry evolves to a state close to the presently observed for average 1961-1990 climate conditions, but the ice cap is found to already lose a large part of its volume and area under 1981-2010 conditions. Sensitivity analyses point out that the ice cap's northern part, situated on a plateau, is fairly stable under changing climatic conditions, whereas the southern part is much more sensitive. In our analysis we also investigate the effect of higher-order dynamics (compared to the Shallow Ice Approximation) and pay particular attention to what thresholds in the system could lead to a (partial) decay of the ice cap in the future.

  15. Hans H. Ussing--scientific work: contemporary significance and perspectives.

    PubMed

    Larsen, Erik Hviid

    2002-11-13

    As a zoologist, Hans H. Ussing began his scientific career by studying the marine plankton fauna in East Greenland. This brought him in contact with August Krogh at the time George de Hevesy, Niels Bohr and Krogh planned the application of artificial radioactive isotopes for studying the dynamic state of the living organism. Following his studies of protein turnover of body tissues with deuterium-labeled amino acids, Ussing initiated a new era of studies of transport across epithelial membranes. Theoretical difficulties in the interpretation of tracer fluxes resulted in novel concepts such as exchange diffusion, unidirectional fluxes, flux-ratio equation, and solvent drag. Combining methods of biophysics with radioactive isotope technology, Ussing introduced and defined the phrases 'short-circuit current', 'active transport pathway' and 'shunt pathway', and with frog skin as experimental model, he unambiguously proved active transport of sodium ions. Conceived in his electric circuit analogue of frog skin, Ussing associated transepithelial ion fluxes with the hitherto puzzling 'bioelectric potentials'. The two-membrane hypothesis of frog skin initiated the study of epithelial transport at the cellular level and raised new questions about cellular mechanisms of actions of hormones and drugs. His theoretical treatment of osmotic water fluxes versus fluxes of deuterium labeled water resulted in the discovery of epithelial water channels. His discovery of paracellular transport in frog skin bridged studies of high and low resistance epithelia and generalized the description of epithelial transport. He devoted the last decade of his scientific life to solute-coupled water transport. He introduced the sodium recirculation theory of isotonic transport, and in an experimental study, he obtained the evidence for recirculation of sodium ions in toad small intestine. In penetrating analyses of essential aspects of epithelial membrane transport, Ussing provided insights of

  16. [Hans Berger (1873-1941)--the history of electroencephalography].

    PubMed

    Tudor, Mario; Tudor, Lorainne; Tudor, Katarina Ivana

    2005-01-01

    The discovery of electroencephalography (EEG) in 1929 by the German psychiatrist Hans Berger was a historical breakthrough providing a new neurologic and psychiatric diagnostic tool at the time, especially considering the lack of all those now available in daily practice (EP, CT, MRI, DSA, etc.) whithout which the making of neurologic diagnosis and planning neurosurgical operative procedures would now be unconceivable. There are no recent reports on the topic in the Croatian medical literature. The methods used in the study included search through previous reports, bibliographic notes, Internet sources, and analysis of continuous scientific attempts made through centuries to discover the real nature and meaning of electrical activity. Galvani's accidental discovery of "biological electricity" led to Volta's discovery of the battery (voltaic pile). Using it, Rolando was the first to stimulate cerebral surface. Thus, enabling Fritsch and Hitzig and Ferrier to develop the idea of cerebral localization (Jackson, Gowers, Gotch and Horsley). It was understandable that brain electrical stimulation produces contralateral motor response, but it was unknown whether there was a spontaneous (intrinsic) brain electrical current that could be recorded. Caton was the first to report on the "current in the brain gray substances onto open brain. Based on Caton's discovery and of those of Beck, Danilevsky, Prawdicz-Neminsky and others, Berger made the first EEG (electrocorticogram) recording on July 6, 1924, during a neurosurgical operation on a 17-year-old boy, performed by the neurosurgeon Nikolai Guleke. He reported on the topic in 1929, using the terms alpha and beta waves. The "spike and waves" (Spitzenwellen) were described shortly thereafter by the American group of EEG pioneers (H. and P. Davies, F. and E. Gibbs, Lenox and Jasper), although Berger had also observed them but considered them artifacts. The discovery of electroencephalography was a milestone for the advancement

  17. From Abrupt Change to the Future (Hans Oeschger Medal Lecture)

    NASA Astrophysics Data System (ADS)

    Stocker, T.

    2009-04-01

    The award of the Oeschger Medal 2009 is a particular honor and pleasure for me as I was given the chance to take over from Hans Oeschger the lead of a wonderful Institute at the University of Bern in 1993. Very apprehensive first, in front of the huge expectations and challenges, I quickly found dear colleagues, close collaborators and extremely supportive staff who all dedicated their time and creativity to work for the common goal of better understanding the Earth System, its variations in the past and its sensitivity to perturbations that man is inflicting on it today. Although met with innate skepticism first by the experimental physicists, our efforts in modelling, particularly the approach of using climate models of reduced complexity, quickly paid off and provided added value to the hard won data and measurements from polar ice cores. It is clear that modelling in such a diverse environment is so much more stimulating and enriching than working on a sophisticated parameterisation in a big modelling centre. Simple models have suggested that the Earth System may have limited stability and that rather fundamental changes could be triggered by the increase of greenhouse gases. However, it is the unique results from polar ice cores, particularly from Greenland that showed that, indeed, the Earth System has limited stability and can react in extremely abrupt ways to changes in forcing. Likewise, the Antarctic ice cores have provided one of the corner stones of our knowledge about climate change: Concentrations of CO2 are today 29% higher than ever during the last 800,000 years. These two fundamental insights from the paleoclimatic archive call for accelerated research into the sensitivity of the climate system and its components to perturbations, as well as the investigation of feedback mechanisms in the biogeochemical cycles that are disturbed by the input of CO2 into the atmosphere by burning fossil fuels and land use change. Our research has only scratched the

  18. A Survey of the Thermodynamics of HAN-Based Liquid Gun Propellants

    DTIC Science & Technology

    1980-12-01

    Pilcher, " Thermochemistry of Organic and Organno- metallic Compounds", Academic Press, London, 1970. 4 (U) E.S. Domaiski, J. Physical Chemical Ref. Data...not be quite so reasonable for LGPs containing water, since heats of hydration are occasionally large. In the present case, the heat of solution of...HAN is -22 J/mol for a 1 M solution 5 . The heat of solution decreases with increasing concentration; since NOS-365 contains 8.8 M HAN, it appeared

  19. Quantitative assessment of TIM-3 polymorphisms and cancer risk in Chinese Han population.

    PubMed

    Gao, Xueren; Yang, Jiaojiao; He, Youji; Zhang, Jianqiong

    2016-06-14

    Previous studies have investigated the associations of TIM-3 polymorphisms (-1516G/T, -574G/T, and +4259T/G) with cancer risk in Chinese Han population, but the results remain conflicting. Therefore, we conducted a meta-analysis to derive a more precise estimation of the associations. The pooled data showed that TIM-3 polymorphisms (-1516G/T, -574G/T, and +4259T/G) were significantly associated with an increased risk of overall cancer in Chinese Han population. Subgroup analyses based on cancer system showed that TIM-3 -1516G/T polymorphism was only associated with an increased risk of digestive system cancer in Chinese Han population. TIM-3 -574G/T polymorphism was associated with an increased risk of digestive system cancer and other cancer in Chinese Han population. TIM-3 +4259T/G polymorphism was only associated with an increased risk of other cancer in Chinese Han population. In summary, our results indicated that TIM-3 polymorphisms (-1516G/T, -574G/T, and +4259T/G) were associated with the increased risk of cancer in Chinese Han population.

  20. Implicit Trust between the Uyghur and the Han in Xinjiang, China

    PubMed Central

    Li, Xueting; Fang, Huizhen; Yang, Shengmin; Liu, Jia

    2013-01-01

    Trust is a vital lubricant that increases the sense of security in social interactions. In this study, we investigated the intergroup trust between the Uyghur and the Han, the two largest ethnic groups in Xinjiang, China, with a Go/No-Go Association Task. Specifically, we instructed Uyghur and Han participants to respond to ethnic faces (Uyghur vs. Han) and trust/distrust words and measured the strength of the automatic associations between the faces and words for both in-group and out-group pairs. As expected, both ethnic groups showed implicit in-group trust and out-group distrust, but the Han group demonstrated stronger in-group trust and out-group distrust toward the Uyghur than the Uyghur group toward the Han. However, the magnitude of distrust of the Han toward the Uyghur was small to medium as compared with that reported by other intergroup relationship research. In addition, participant geographic location was associated with out-group distrust. These findings offer implications for developing effective strategies to encourage trust between conflicting groups. PMID:23977155

  1. Research on the Solar Eclipse Records in the Wuxingzhi of Both {Han} Dynasties

    NASA Astrophysics Data System (ADS)

    Li, Y.

    2015-09-01

    In this paper, we investigate the paper Lianghan Rishi Kao (inspect the solar-eclipse records in Both {Han} dynasties) written by {Zhu Wenxin} when compared the solar-eclipse records with those in the book Zhongguo Gudai Tianxiang Jilu Zong ji (collection of Chinese ancient astronomical records), and find 38 (61) records with the same dates in Western (Eastern) {Han} dynasty, equal to 70% (85%) of total. Our results have 42 (61) with the same dates in Western (Eastern) {Han} dynasty as just 78% (85%) of the total. There are totally 126 solar-eclipse records in the Wuxingzhi of both {Han} Dynasties. We confirm that there are 21 no occurred, 7 invisible in the capital then, 9 occurred before sunrise, 1 after sunset, and the left 88 are seen, occupying 70% as usually occurred in the capital area. With the help of our transformation platform as from Chinese ancient 60-day-cycle style dates to Gregorian calendar dates, we check the date records of solar eclipses in the Wuxingzhi of both {Han} dynasties, and then review the accuracy of the calendar. The standard errors of month and day are respectively 0.31 month (0.17 month) and 0.97 day (0.74 day) in the Western (Eastern) {Han} dynasty. At the same time, the standard errors of solar location of the records are determined, they are 11.08° (6.63°) in Western (Eastern) {Han} dynasty, and after excluding the possible misrecords the accuracy changes to 9.30° (3.59°). If the Juxing (key star of this constellation) was the same in both {Han} dynasties, the average value of observation error of solar location in Eastern {Han} dynasty is 2.8°, far better than 8.2° in Western {Han} dynasty. Otherwise, they most likely appear in some constellations with larger deviation. We try to determine the Δ T (ET-UT) value of solar-eclipse records with the magnitude descriptions, and at the same time, it is concluded that the magnitude of Ji (total eclipse) is 0.969-1.0, Jijin (the sun is covered almost all) is 0.829-0.985, and

  2. Prevalence of Diabetes and Associated Factors in the Uyghur and Han Population in Xinjiang, China

    PubMed Central

    Gong, Haiying; Pa, Lize; Wang, Ke; Mu, Hebuli; Dong, Fen; Ya, Shengjiang; Xu, Guodong; Tao, Ning; Pan, Li; Wang, Bin; Shan, Guangliang

    2015-01-01

    Objective: To estimate the prevalence of diabetes and identify risk factors in the Uyghur and Han population in Xinjiang, China. Methods: A cross-sectional study in urban and rural areas in Xinjiang, including 2863 members of the Uyghur population and 3060 of the Han population aged 20 to 80 years, was conducted from June 2013 to August 2013. Data on fasting plasma glucose (FPG) and personal history of diabetes were used to estimate the prevalence of diabetes. Data on demographic characteristics, lifestyle risk factors, and lipid profiles were collected to identify risks factors using the multivariate logistic regression model. Results: In urban areas, the age- and gender-standardized prevalence of diabetes was 8.21%, and the age- and gender-standardized prevalence of diabetes was higher in the Uyghur population (10.47%) than in the Han population (7.36%). In rural areas, the age- and gender-standardized prevalence of diabetes was 6.08%, and it did not differ significantly between the Uyghur population (5.71%) and the Han population (6.59%). The results of the multivariate logistic regression analysis showed that older age, obesity, high triglycerides (TG), and hypertension were all associated with an increased risk of diabetes in the Uyghur and Han population. Urban residence and low high-density lipoprotein cholesterol (HDL-C) were associated with an increased risk of diabetes in the Uyghur population. Being an ex-drinker was associated with an increased risk of diabetes and heavy physical activity was associated with a decreased risk of diabetes in the Han population. Conclusions: Our study indicates that diabetes is more prevalent in the Uyghur population compared with the Han population in urban areas. Strategies aimed at the prevention of diabetes require ethnic targeting. PMID:26473908

  3. A UPLC-MS/MS approach for simultaneous determination of eight flavonoids in rat plasma, and its application to pharmacokinetic studies of Fu-Zhu-Jiang-Tang tablet in rats.

    PubMed

    Tao, Yi; Chen, Xi; Jiang, Yanhui; Cai, Baochang

    2017-03-01

    The purpose of this study is to establish and validate a UPLC-MS/MS approach to determine eight flavonoids in biological samples and apply the method to pharmacokinetic study of Fu-Zhu-Jiang-Tang tablet. A Waters BEH C18 UPLC column was employed with methanol/0.1% formic acid-water as mobile phases. The mass analysis was carried out in a triple quadrupole mass spectrometer using multiple reaction monitoring with negative scan mode. A one-step protein precipitation by methanol was used to extract the analytes from blood. Eight major flavonoids were selected as markers. Our results showed that calibration curves for 3'-hydroxypuerarin, mirificin, puerarin, 3'-methoxypuerarin, daidzin, rutin, astragalin and daidzein displayed good linear regression (r(2)  > 0.9986). The intra-day and inter-day precisions (RSD) of the eight flavonoids at high, medium and low levels were <8.03% and the bias of the accuracies ranged from -5.20 to 6.75%.The extraction recoveries of the eight flavonoids were from 91.4 to 100.5% and the matrix effects ranged from 89.8 to 103.8%. The validated approach was successfully applied to a pharmacokinetic study in Sprague-Dawley rats after oral administration of FZJT tablet. Double peaks were emerged in curves of mean plasma concentration for 3'-methoxypuerarin, which was reported for the first time.

  4. Seroepidemiology of Toxoplasma gondii infection in Bai and Han ethnic groups in southwestern China.

    PubMed

    Li, H-L; Dong, L; Li, Q; Zhang, L; Chen, J; Zou, F-C; Zhu, X-Q

    2015-03-01

    Eating raw pork and/or liver is a custom of the Bai ethnic group in China. Most people living in Dali Bai Autonomous Prefecture, Yunnan Province, southwestern China are of Bai ethnicity. Little is known of the seroprevalence of Toxoplasma gondii in Bai and Han ethnic populations in this region. In the present survey, a total of 555 and 595 blood samples were obtained from Bai and Han ethnic groups in Dali urban and rural areas, respectively. Enzyme-linked immunosorbent assay was performed to examine T. gondii IgG antibodies. Total positive rate of anti-T. gondii IgG in Bai and Han groups in this region was 21·6% (248/1150). The total seroprevalence of T. gondii was significantly higher in the Bai ethnic group (32·3%, 179/555) than in the Han ethnic group (11·6%, 69/595) (P < 0·01). The results of statistical analysis indicated that there was no significant difference between cat feeding/non-cat feeding groups in the Bai ethnic group, the most important risk factor was consumption of raw pork and/or liver for the Bai group, but feeding a cat may be the main route of T. gondii infection for the Han group. Therefore, it is essential to implement integrated strategies to prevent and control T. gondii infection in this unique region of the world.

  5. Attachment and sibling rivalry in Little Hans: the fantasy of the two giraffes revisited.

    PubMed

    Wakefield, Jerome C

    2007-01-01

    Freud's interpretation of Little Hans's "phantasy of the two giraffes" is pivotal to his oedipal analysis that Hans has inchoate desires for sexual intercourse with his mother. Bowlby argued that Freud's focus on his oedipal theory led him to ignore preoedipal attachment-related factors that have equal plausibility in explaining the clinical data. However, Bowlby did not attempt to apply the attachment perspective to the interpretation of Hans's fantasies that form the core of the case material. A microanalysis of Hans's giraffe fantasy and the evidence used to support Freud's claims about it yields an attachment-based sibling rivalry account arguably of greater explanatory power than the oedipal account. Consistent with Bowlby's hypothesis, the evidence suggests that Hans's giraffe fantasy is about the sibling rivalry triangle involved in caregiver attachment access, rather than (or in addition to) the oedipal triangle. The issue of multiple levels of meaning and the methodological challenges raised by multiple determination is also considered. The giraffe fantasy's attachment-theoretic explanation encourages a rethinking of this classic case and strengthens Bowlby's claim that the case is fruitfully viewed from an attachment perspective.

  6. [Genetic polymorphisms of STR loci THO1, TPOX, CSF1PO in Guizhou Han population].

    PubMed

    Zhou, Qiang; Wu, Si-Kun; Yu, Fang; He, Rong-Yue

    2004-01-01

    To understand the genetic polymorphism at THO1, TPOX, CSF1PO STR loci for Han population in Guizhou Province, and construct a preliminary database, EDTA-blood specimens were collected from the 110 unrelated individuals in Han population from Guizhou. The DNA samples were extracted with Chelex method and amplified by multiplex polymerase chain reaction. The PAGE was used to type the PCR products. The allele frequencies were compared with other Han populations. The genotype distributions of THO1, TPOX and CSF1PO were in accordance with Hardy-Weinberg equilibrium. The combined PD and PE were 0.9986 and 0.832 respectively. All of the three loci in this study provide useful marker for forensic paternity test and individual identification.

  7. Analysis of 24 Y-STR haplotype data in a Chinese Han population from Guangdong Province.

    PubMed

    Wang, Ying; Liu, Chao; Zhang, Chu-chu; Li, Ran; Liu, Hong; Ou, Xue-ling; Li, Hai-xia; Sun, Hong-yu

    2016-05-01

    In this study, we investigated the genetic polymorphisms of 24 Y-chromosomal short tandem repeat (Y-STR) loci in 885 unrelated Chinese Han male individuals from Guangdong Province, using a domestic AGCU Y24 STR kit. A total of 878 different haplotypes were observed at the 24 Y-STR loci; among them, 871 haplotypes were unique and 7 haplotypes occurred twice. The overall haplotype diversity was 0.99998 and the discrimination capacity was 99.2%. The gene diversity values ranged from 0.4354 at DYS438 to 0.9606 at DYS385a/b. Population relationships between the Guangdong Han population and seven other published Chinese populations were evaluated by Rst values and visualized in a two multi-dimensional scaling plot. The results showed the 24 Y-STR loci are highly polymorphic in Guangdong Han population and of great value in forensic application.

  8. Little Hans and the thought police: the 'policeman fantasies' as the first reported supervisory transference fantasies.

    PubMed

    Wakefield, Jerome C

    2008-02-01

    The 'policeman fantasies' in Freud 's case of Little Hans, famous for being Freud 's most direct evidence for specifically sexual oedipal desire by Hans for his mother, are reconsidered. The Hans case is the first recorded instance of psychoanalytic supervision, and recent studies suggest that it is common for patients in supervised treatment to experience fantasies about the supervisor. It is argued that the policeman fantasies are the first recorded instances of such transference fantasies about psychoanalytic supervision and the patient-therapist-supervisor triangle. The explanatory power of this interpretation is supported by the nuances of the features of the fantasies themselves, as well as by the context in which they occurred that might serve as 'day residues'. Moreover, this interpretation provides an answer to the central mystery of the two fantasies, which goes unaddressed by Freud 's oedipal interpretation: Who is the policeman?

  9. Y-chromosome haplotype distribution in Han Chinese populations and modern human origin in East Asians.

    PubMed

    Ke, Y; Su, B; Xiao, J; Chen, H; Huang, W; Chen, Z; Chu, J; Tan, J; Jin, L; Lu, D

    2001-06-01

    We investigated the distribution of Y-chromosome haplotype using 19 Y-SNPs in Han Chinese populations from 22 provinces of China. Our data indicate distinctive patterns of Y chromosome between southern and northern Han Chinese populations. The southern populations are much more polymorphic than northern populations. The latter has only a subset of the southern haplotypes. This result confirms the genetic difference observed between southern and northern ethnic populations in East Asia. It supports the hypothesis that the first settlement of modern humans of African origin occurred in the southern part of East Asia during the last Ice Age, and a northward migration led to the peopling of northern China.

  10. Genetic determination of the enhanced drought resistance of rice maintainer HuHan2B by pedigree breeding

    PubMed Central

    Wei, Haibin; Feng, Fangjun; Lou, Qiaojun; Xia, Hui; Ma, Xiaosong; Liu, Yunhua; Xu, Kai; Yu, Xinqiao; Mei, Hanwei; Luo, Lijun

    2016-01-01

    The ongoing deficit of fresh water resource in rice growing regions has made the selection of water-saving and drought-resistance rice (WDR) a crucial factor in developing sustainable cultivation. HuHan2B, a new japonica maintainer for WDR breeding, had the same yield potential as recurrent parent HanFengB but showed improved drought resistance in fields. We investigated the genomic content accumulation and candidate genes passed from parent to offspring using the genomic and transcriptomic approaches. The genomic constitution indicated that the genetic similarity was 84% between HuHan2B and HanFengB; additionally, 7,256 genes with specific alleles were inherited by HuHan2B from parents other than HanFengB. The differentially expressed genes (DEGs) under drought stress showed that biological function was significantly enriched for transcript regulation in HuHan2B, while the oxidation-reduction process was primarily enriched in HanFengB. Furthermore, 36 DEGs with specific inherited alleles in HuHan2B were almost involved in the regulatory network of TFs and target genes. These findings suggested that major-effect genes were congregated and transformed into offspring in manner of interacting network by breeding. Thus, exploiting the potential biological function of allelic-influencing DEGs would be of great importance for improving selection efficiency and the overall genetic gain of multiple complex traits. PMID:27853319

  11. Genetic determination of the enhanced drought resistance of rice maintainer HuHan2B by pedigree breeding.

    PubMed

    Wei, Haibin; Feng, Fangjun; Lou, Qiaojun; Xia, Hui; Ma, Xiaosong; Liu, Yunhua; Xu, Kai; Yu, Xinqiao; Mei, Hanwei; Luo, Lijun

    2016-11-17

    The ongoing deficit of fresh water resource in rice growing regions has made the selection of water-saving and drought-resistance rice (WDR) a crucial factor in developing sustainable cultivation. HuHan2B, a new japonica maintainer for WDR breeding, had the same yield potential as recurrent parent HanFengB but showed improved drought resistance in fields. We investigated the genomic content accumulation and candidate genes passed from parent to offspring using the genomic and transcriptomic approaches. The genomic constitution indicated that the genetic similarity was 84% between HuHan2B and HanFengB; additionally, 7,256 genes with specific alleles were inherited by HuHan2B from parents other than HanFengB. The differentially expressed genes (DEGs) under drought stress showed that biological function was significantly enriched for transcript regulation in HuHan2B, while the oxidation-reduction process was primarily enriched in HanFengB. Furthermore, 36 DEGs with specific inherited alleles in HuHan2B were almost involved in the regulatory network of TFs and target genes. These findings suggested that major-effect genes were congregated and transformed into offspring in manner of interacting network by breeding. Thus, exploiting the potential biological function of allelic-influencing DEGs would be of great importance for improving selection efficiency and the overall genetic gain of multiple complex traits.

  12. Kinetics, mechanisms, and influencing factors on the treatment of haloacetonitriles (HANs) in water by two household heating devices.

    PubMed

    Shi, Wendong; Wang, Lei; Chen, Baiyang

    2017-04-01

    Haloacetonitriles (HANs) are a group of nitrogenous disinfection by-products (DBPs) commonly found in treated water with potential carcinogenic, cytotoxic, and genotoxic risks. In order to control HANs and understand their real intake levels by people via drinking water, this study evaluated a list of structural, operational, and environmental factors affecting the treatment of HANs by two domestic heating devices, i.e., an electric boiler and a microwave oven. Results show that the concentrations of HANs decreased exponentially over time with increasing temperature, water turbulence, and bubbles, and the phenomena were most likely due to a combined effect of volatilization and hydrolysis. Among HANs, the lability increased with increasing halogenation degrees (i.e., tri- > di- > mono- HANs) yet decreasing halogen molecular weights (i.e., Cl- > Br- > I- HANs); such trends were well captured by quantitative structure activity relationship models (R(2) = 0.99). Operational factors played critical roles in controlling HANs too, including the rate of heating, water volume, water temperature at time of pouring, cooling method, and capping condition, suggesting that people could benefit from proper handling methods and procedures. In addition, HANs added to tap water exhibited higher removals than those added to ultrapure water, probably because of the presence of free chlorine in tap water.

  13. Prevalence of Obesity and Related Factors among Bouyei and Han Peoples in Guizhou Province, Southwest China

    PubMed Central

    Wang, Ke; Wang, Dingming; Pan, Li; Yu, Yangwen; Dong, Fen; Li, Ling; Wang, Li; Liu, Tao; Zeng, Xianjia; Sun, Liangxian; Zhu, Guangjin; Feng, Kui; Jonasson, Junmei Miao; Wu, Zhenglai; Xu, Ke; Pang, Xinglong; Chen, Ting; Pan, Hui; Ma, Jin; Zhong, Yong; Ping, Bo; Shan, Guangliang

    2015-01-01

    Objective To investigate the prevalence of general and abdominal obesity and associated factors in Bouyei and Han peoples. Design A cross-sectional study was carried out in Guizhou province, southwest China in 2012, with multi-stage sampling to enroll 4551 participants aged 20 to 80 years. General and abdominal obesity were defined by World Health Organization (WHO) for Chinese. A design-based analysis was performed to evaluate prevalence of obesity and its related factors. Results Bouyei people had a significantly lower prevalence of general obesity (4.8% vs. 10.9%, p < 0.05) and abdominal obesity (13.6% vs. 26.8%, p < 0.05) than that in Han people. Prevalence of obesity increased with age until middle-age period and declined thereafter. Men aged 40–49 years group and women aged 50–59 years group have the highest prevalence of general obesity. Prevalence of abdominal obesity was higher than that of general obesity. Middle-age, Higher income, Han people were significantly associated with an increased risk of General/abdominal obesity. Conclusions Bouyei people had a lower prevalence of general and abdominal obesity than the Han people. Etiological studies should be conducted to determine underlying genetic factors and dietary factors. PMID:26075708

  14. Microbial community development on the surface of Hans and Werenskiold Glaciers (Svalbard, Arctic): a comparison.

    PubMed

    Grzesiak, Jakub; Górniak, Dorota; Świątecki, Aleksander; Aleksandrzak-Piekarczyk, Tamara; Szatraj, Katarzyna; Zdanowski, Marek K

    2015-09-01

    Surface ice and cryoconite holes of two types of polythermal Svalbard Glaciers (Hans Glacier--grounded tidewater glacier and Werenskiold Glacier-land-based valley glacier) were investigated in terms of chemical composition, microbial abundance and diversity. Gathered data served to describe supraglacial habitats and to compare microbe-environment interactions on those different type glaciers. Hans Glacier samples displayed elevated nutrient levels (DOC, nitrogen and seston) compared to Werenskiold Glacier. Adjacent tundra formations, bird nesting sites and marine aerosol were candidates for allochtonic enrichment sources. Microbial numbers were comparable on both glaciers, with surface ice containing cells in the range of 10(4) mL(-1) and cryoconite sediment 10(8) g(-1) dry weight. Denaturating gradient gel electrophoresis band-based clustering revealed differences between glaciers in terms of dominant bacterial taxa structure. Microbial community on Werenskiold Glacier benefited from the snow-released substances. On Hans Glacier, this effect was not as pronounced, affecting mainly the photoautotrophs. Over-fertilization of Hans Glacier surface was proposed as the major factor, desensitizing the microbial community to the snow melt event. Nitrogen emerged as a limiting factor in surface ice habitats, especially to Eukaryotic algae.

  15. Epidemiology Investigation of stroke among Mongolian and Han population aged over 45 in Inner Mongolia

    PubMed Central

    Zhang, Chunyu; Lan, Tian; Zhe, Yan; Hu, Baolige; Zhang, Guohua; He, Juan; Wang, Zhiguang; Jiang, Mingfang; Hu, Riletemuer

    2017-01-01

    To discuss the status of epidemiology of stroke in the Mongolian and Han population aged over 45 years and to understand the treatment and prevention of stroke. Data collected on stroke populations aged over 45 years in the six areas in Inner Mongolia were analyzed by using stratified multi-stage cluster sampling. The prevalence rate of stroke in patients aged over 45 years in Inner Mongolia was 4.62%. The stroke prevalence rate increased with age in both males and females, the Han and Mongolian populations, and was higher in males than in females in Inner Mongolia. The prevalence rate of stroke in the Mongolian population was higher than in the Han population. The incidence rate of stroke in patients aged over 45 years in Inner Mongolia was 0.28%, of which the rate of relapsed ischemic stroke was 23.29%. The proportion of ischemic stroke in the stroke patients was higher than hemorrhagic stroke. The prevalence and incidence rates of stroke in patients aged over 45 years in Inner Mongolia were high. The prevalence rate of stroke in both the Han population and the Mongolian population increased with age. Ischemic stroke was the major form of stroke. PMID:28374830

  16. Process for Assessing the Stability of HAN (Hydroxylammonium Nitrate)-Based Liquid Propellants

    DTIC Science & Technology

    1989-02-09

    compatibility of peroxidic cross-linked Viton (Viton OF) and of perfluorated hydrocarbon (Kalrez 4079) with the liquid propellant LP 1846. For this... carbamide ) derivates, have been found most expedient as additives for solid propellants. 49 Propellants containing HAN react immediately with nitrous gases

  17. Building Empire through Argumentation: Debating Salt and Iron in Western Han China

    ERIC Educational Resources Information Center

    You, Xiaoye

    2010-01-01

    The history of American imperialism, as well as China's strong presence on the contemporary global scene, should encourage American scholars of rhetoric to look beyond the nation-state and study other rhetorical traditions such as Chinese practices of argument. A debate during the Western Han dynasty over the country's economic policies…

  18. Quantitative Analysis of Intestinal Flora of Uygur and Han Ethnic Chinese Patients with Ulcerative Colitis.

    PubMed

    Yao, Ping; Cui, Min; Wang, Haikun; Gao, Hongliang; Wang, Lei; Yang, Tao; Cheng, Yongbo

    2016-01-01

    Aim. To study the correlation between intestinal flora and ulcerative colitis by analyzing the abundance of Bacteroides, Fusobacterium, Clostridium, Bifidobacterium spp., and Faecalibacterium prausnitzii in the intestinal of ulcerative colitis (UC) patients and healthy controls with Uygur and Han ethnic. Methods. Bacterial genomic DNA was extracted from fecal samples and analyzed with real-time fluorescence quantitative polymerase chain reaction (PCR) to identify the abundance of Bacteroides, Fusobacterium, Clostridium, Bifidobacterium spp., and Faecalibacterium prausnitzii. Results. The samples from UC patients, Uygur and Han ethnic combined, had higher abundance of Bacteroides (P = 0.026) but lower Clostridium (P = 0.004), Bifidobacterium spp. (P = 0.009), and Faecalibacterium prausnitzii (P = 0.008) than those from healthy controls. Among UC patients, Bacteroides population was raised in acute UC patients (P ≤ 0.05), while the abundance of Clostridium, Bifidobacterium spp., Fusobacterium, and Faecalibacterium prausnitzii decreased (P ≤ 0.05) compared with the remission. In both UC patients group and control group, no difference was observed in the abundance of these 5 bacteria between the Han and the Uygur group. Conclusions. Variations in the abundance of these five bacterial strains in intestines may be associated with the occurrence of UC in Uygur and Han populations; however, these variations were not associated with ethnic difference.

  19. Antisocial Behavior in Children and Hans Eysenck's Biosocial Theory of Personality: A Review.

    ERIC Educational Resources Information Center

    Kemp, Dawn E.; Center, David B.

    This paper examines antisocial behavior in children and youth in relation to the biosocial personality theory of Hans Eysenck. It explains Eysenck's theory, which includes a significant role for biological factors in the development of antisocial behavior. The theory holds that three temperament traits--Psychoticism (P), Extroversion (E), and…

  20. Official portrait of STS-55 SL-D2 Payload Specialist 2 Hans Schlegel

    NASA Technical Reports Server (NTRS)

    1993-01-01

    German Payload Specialist 2 Hans Schlegel poses for his Official portrait. Schlegel is assigned to the STS-55 Columbia, Orbiter Vehicle (OV) 102, Spacelab Deutsche 2 (SL-D2) mission. This is the second dedicated German Spacelab flight. United States and German flags and a space shuttle orbiter model in launch configuration create the backdrop.

  1. Genetic screening for mutations in the chip gene in intracranial aneurysm patients of Chinese Han nationality.

    PubMed

    Su, Li; Zhang, Yuan; Zhang, Chun-Yang; Zhang, An-Long; Mei, Xiao-Long; Zhao, Zhi-Jun; Han, Jian-Guo; Zhao, Li-Jun

    2013-01-01

    We performed a case-control study to investigate whether SNPs of CHIP might affect the development of IA in Chinese Han nationality. We believe we are the first to have screened IA patients for mutations in the CHIP gene to determine the association with these variants. The study group comprised 224 Chinese Han nationality patients with at least one intracranial aneurysm and 238 unrelated healthy Han nationality controls. Genomic DNA was isolated from blood leukocytes. The entire coding regions of CHIP were genotyped by PCR amplification and DNA sequencing. Differences in genotype and allele frequencies between patients and controls were tested by the chi-square method. Genotype and allele frequencies of the SNP rs116166850 was demonstrated to be in Hardy-Weinberg equilibrium. No significant difference in genotype or allele frequencies between case and control groups was detected at the SNP. Our data do not support the hypothesis of a major role for the CHIP gene in IA development in the Chinese Han population.

  2. STS-55 Payload Specialist 2 Hans Schlegel in LES during JSC training

    NASA Technical Reports Server (NTRS)

    1992-01-01

    STS-55 Columbia, Orbiter Vehicle (OV) 102, German Payload Specialist 2 Hans Schlegel takes a break during training in JSC's Mockup and Integration Laboratory (MAIL) Bldg 9NE. Schlegel is attired in a training version of the launch and entry suit. STS-55 is the second dedicated German (Deutsche) Spacelab flight and is designated D-2.

  3. The Relevance of Hans-Georg Gadamer's Concept of Tradition to the Philosophy of Education

    ERIC Educational Resources Information Center

    Leiviskä, Anniina

    2015-01-01

    In this article, Anniina Leiviskä argues that the educational relevance of Hans-Georg Gadamer's concept of tradition has remained unacknowledged because of the conservatism that has been associated with Gadamer's hermeneutics, particularly his notion of tradition. Therefore, Leiviskä seeks to reveal the reflective, nonconservative nature of…

  4. Quantitative Analysis of Intestinal Flora of Uygur and Han Ethnic Chinese Patients with Ulcerative Colitis

    PubMed Central

    Yao, Ping; Cui, Min; Wang, Haikun; Gao, Hongliang; Wang, Lei; Yang, Tao; Cheng, Yongbo

    2016-01-01

    Aim. To study the correlation between intestinal flora and ulcerative colitis by analyzing the abundance of Bacteroides, Fusobacterium, Clostridium, Bifidobacterium spp., and Faecalibacterium prausnitzii in the intestinal of ulcerative colitis (UC) patients and healthy controls with Uygur and Han ethnic. Methods. Bacterial genomic DNA was extracted from fecal samples and analyzed with real-time fluorescence quantitative polymerase chain reaction (PCR) to identify the abundance of Bacteroides, Fusobacterium, Clostridium, Bifidobacterium spp., and Faecalibacterium prausnitzii. Results. The samples from UC patients, Uygur and Han ethnic combined, had higher abundance of Bacteroides (P = 0.026) but lower Clostridium (P = 0.004), Bifidobacterium spp. (P = 0.009), and Faecalibacterium prausnitzii (P = 0.008) than those from healthy controls. Among UC patients, Bacteroides population was raised in acute UC patients (P ≤ 0.05), while the abundance of Clostridium, Bifidobacterium spp., Fusobacterium, and Faecalibacterium prausnitzii decreased (P ≤ 0.05) compared with the remission. In both UC patients group and control group, no difference was observed in the abundance of these 5 bacteria between the Han and the Uygur group. Conclusions. Variations in the abundance of these five bacterial strains in intestines may be associated with the occurrence of UC in Uygur and Han populations; however, these variations were not associated with ethnic difference. PMID:26839545

  5. Teaching Styles and Conceptions of Effective Teachers: Tibetan and Han Chinese Academics Compared

    ERIC Educational Resources Information Center

    Zhang, Li-fang

    2011-01-01

    The principal objective of this research is to ascertain if the "research-teaching dichotomy" as revealed in the relationship between conceptions of effective teachers and teaching styles among Han Chinese academics can be found among Tibetan academics. As a preliminary objective, this research examines the appropriateness of the…

  6. Epidemiology Investigation of stroke among Mongolian and Han population aged over 45 in Inner Mongolia.

    PubMed

    Zhang, Chunyu; Lan, Tian; Zhe, Yan; Hu, Baolige; Zhang, Guohua; He, Juan; Wang, Zhiguang; Jiang, Mingfang; Hu, Riletemuer

    2017-04-04

    To discuss the status of epidemiology of stroke in the Mongolian and Han population aged over 45 years and to understand the treatment and prevention of stroke. Data collected on stroke populations aged over 45 years in the six areas in Inner Mongolia were analyzed by using stratified multi-stage cluster sampling. The prevalence rate of stroke in patients aged over 45 years in Inner Mongolia was 4.62%. The stroke prevalence rate increased with age in both males and females, the Han and Mongolian populations, and was higher in males than in females in Inner Mongolia. The prevalence rate of stroke in the Mongolian population was higher than in the Han population. The incidence rate of stroke in patients aged over 45 years in Inner Mongolia was 0.28%, of which the rate of relapsed ischemic stroke was 23.29%. The proportion of ischemic stroke in the stroke patients was higher than hemorrhagic stroke. The prevalence and incidence rates of stroke in patients aged over 45 years in Inner Mongolia were high. The prevalence rate of stroke in both the Han population and the Mongolian population increased with age. Ischemic stroke was the major form of stroke.

  7. Population genetics of 26 Y-STR loci for the Han ethnic in Hunan province, China.

    PubMed

    Jiang, Weibo; Gong, Zheng; Rong, Haibo; Guan, Hua; Zhang, Tao; Zhao, Yihe; Fu, Xiaoliang; Zha, Lagabaiyila; Jin, Chuan; Ding, Yanjun

    2017-01-01

    To study the population data of Y-chromosome STRs (Y-STRs) of Han population resided in Hunan province, we analyzed haplotypes of 26 Y-STRs (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS481, DYS533, DYS549, DYS570, DYS576, DYS635, DYS643, DYS388, DYS449, DYS460, and YGATAH4) in 310 unrelated male individuals using a commercially available Goldeneye® DNA ID 26Y system. The calculated average gene diversity values ranged from 0.4211 to 0.9590 for DYS438 and DYS385a/b loci, respectively. The discriminatory capacity was 96.77 % with 300 observed haplotypes. Population relationships between Hunan Han and eight other populations available from Y-chromosome haplotype reference database (YHRD) were compared. The results showed that the Han population resided in the Hunan district is significantly different from other populations. Our results also indicated that these 26 Y-STR loci were highly genetically polymorphic in the Hunan Han population and of great value in forensic application.

  8. Collaboration, Reputation, and Ethics in American Academic Life: Hans H. Gerth and C. Wright Mills.

    ERIC Educational Resources Information Center

    Oakes, Guy; Vidich, Arthur J.

    Using the collaboration between sociologist C. Wright Mills and Hans H. Gerth and their studies of the work of Max Weber as a point of departure for a sustained discussion of academic ethics, this book explores how concealment, secrecy, and deception contribute to the building of academic reputation and how the balance of knowledge and power in a…

  9. Individuals or Types: A Character Analysis of Hans Christian Andersen's Fairy Tales.

    ERIC Educational Resources Information Center

    Clement, Sherrie

    In a literary analysis of selected Hans Christian Andersen fairy tales, the characters were divided into three main types: human beings; plants, animals, and inanimate objects; and imaginary creations. A comparison was then made between Andersen's characters and those in traditional fairy tales. The findings revealed that Andersen succeeded in his…

  10. Brief Report: No Increase in Criminal Convictions in Hans Asperger's Original Cohort

    ERIC Educational Resources Information Center

    Hippler, Kathrin; Viding, Essi; Klicpera, Christian; Happe, Francesca

    2010-01-01

    Hans Asperger originally used the term "autistic psychopathy" to describe his patients on the autism spectrum, leading to a possible confusion with psychopathic disorder and delinquent behaviour. We conducted a penal register search for 177 former patients of Asperger's clinic with a childhood diagnosis of "autistic…

  11. "Our Good Han Mothers": Observations from the Xinjiang Class at the Qingshan Superior Secondary School of Wuxi Municipality, Jiangsu Province

    ERIC Educational Resources Information Center

    Tao, Jiaqing; Yang, Xiaohu

    2010-01-01

    Instrumental to the successful running of the Xinjiang Classes are its teachers, many of whom are Han Chinese. This article explores the important roles teachers of the Xinjiang Class play in the lives of Xinjiang Class students inside and outside of the classroom. From homesickness, to hygiene, to scholastic endeavors, Han teacher-mothers…

  12. Mild cognitive impairment risk factor survey of the Xinjiang Uyghur and Han elderly

    PubMed Central

    Keyimu, Kabinuer; Zhou, Xiao-Hui; Miao, Hai-Jun; Zou, Ting

    2015-01-01

    To understand risk factors of the Xinjiang Uyghur, Han two ethnic elderly with mild cognitive impairment (mild cognitive impairment, MCI), and provide evidence for in-depth study of the causes and prevention of MCI. The MCI epidemiological survey was based on Xinjiang Uyghur and Han residents with 60 years of age or older. The total number of participants is 5398, including 3931 Uyghur residents, and 1467 Han residents. There are 456 participants with MMSE score 2 points above the demarcation points, excluded from the survey for dementia, cerebrovascular disease and other central nervous system disorders, according to case-control study method of random selection in epidemiological survey. In accordance with the clinical diagnostic criteria of MCI, which is from Disorder Diagnostic and Statistical Manual (the revised version of the fourth edition (DSM-IV) from of the American Psychiatric Association, there are 305 cases of MCI, including 159 cases of Han, 146 cases of Uyghur. In the Han groups: univariate analysis showed a correlation (P < 0.05) between sex, age, blood pressure, triglyceride (TG), low density lipoprotein (LDL-ch) and MCI. Multivariate Logistic regression analysis showed: age, hypertension, TG, LDL-ch (increased) may increase the risk of MCI (OR values were: 1.115, 1.981, 1.315, 1.495, with P < 0.05). In the Uyghur groups: univariate analysis showed a correlation (P < 0.05) between age, gender, hypertension, abnormal glucose metabolism, TG, TC, LDL-ch and MCI. Multivariate Logistic regression analysis showed: age, hypertension, abnormal glucose metabolism, TG, TC, LDL-ch (increased), women have a higher risk of MCI (OR values were: 1.063, 2.145, 2.879, 2.078, 1.429, 1.485, 0.462, P < 0.05). Age, hypertension, TG and LDL-ch are risk factors of MCI for Han population, while age, hypertension, abnormal glucose metabolism, TG, TC and LDL-ch are risk factors of MCI for Uyghur population. PMID:26550345

  13. Analysis of HLA-DM polymorphisms in the Chinese Han population.

    PubMed

    Feng, M L; Liu, R Z; Shen, T; Zhao, Y L; Zhu, Z Y; Liu, D Z

    2012-03-01

    Non-classical human leukocyte antigen (HLA)-DM plays an important and unique role in the processing and presentation of exogenous antigens. Polymorphisms of certain genes and frequency of alleles in populations may indicate susceptibility to certain diseases. In this study, the analysis of HLA-DMA and HLA-DMB gene polymorphisms and haplotypes in the Chinese Han population was conducted to obtain population genetic data. HLA-DM typing has been performed previously by other groups by polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-sequence-specific oligonucleotide probe techniques. In this study, we established a TaqMan PCR typing method as an alternative to these techniques to survey the frequency of DMA and DMB alleles in the population. Genotyping was conducted in 1000 unrelated individuals of Han nationality in South and North China using TaqMan PCR typing. Four different DMA alleles and six different DMB alleles were detected. All loci met the Hardy-Weinberg equilibrium principle that both allele and genotype frequencies in a population remain constant. We found that the DMA*01:01 (69.35%) and DMB*01:01 (52.5%) alleles were more frequent in Chinese Hans. Analysis of the haplotypes for two loci of DMA and DMB showed that a highly significant positive linkage disequilibrium (LD) presented for DMA*01:01-DMB*01:02, DMA*01:01-DMB*01:03, DMA*01:01-DMB*01:04, DMA*01:02-DMB*01:01, DMA*01:02-DMB*01:05, DMA*01:03-DMB*01:07, and DMA*01:04-DMB*01:01 haplotypes. Analysis of haplotypes for four loci associated with antigen processing (DMA-DMB-TAP1-TAP2) showed a highly significant LD in DMA*01:01-DMB*01:04-TAP1*02:01:01-TAP2*01:02, DMA*01: 02-DMB*01:05-TAP1*01:01-TAP2*01:01, and DMA*01:01-DMB*01:03-TAP1* 04:01-TAP2*01:01 haplotypes. The comparison between the Chinese Han population and non-Chinese populations showed that no significant differences were found at the HLA-DMA locus in the Chinese Han population compared with people of German

  14. Angiogenin gene polymorphism: A risk factor for diabetic peripheral neuropathy in the northern Chinese Han population.

    PubMed

    Wang, Hongli; Fan, Dongsheng; Zhang, Yingshuang

    2013-12-25

    Angiogenin is associated with the pathogenesis of diabetic peripheral neuropathy. Here, we quenced the coding region of the angiogenin gene in genomic DNA from 207 patients with type 2 diabetes mellitus (129 diabetic peripheral neuropathy patients and 78 diabetic non-neuropathy patients) and 268 healthy controls. All subjects were from the Han population of northern China. No mutations were found. We then compared the genotype and allele frequencies of the angiogenin synonymous single nucleotide polymorphism rs11701 between the diabetic peripheral neuropathy patients and controls, and between the diabetic neuropathy and non-neuropathy patients, using a case-control design. We detected no statistically significant genetic associations. Angiogenin may not be associated with genetic susceptibility to diabetic peripheral neuropathy in the Han population of northern China.

  15. More heritability probably captured by psoriasis genome-wide association study in Han Chinese.

    PubMed

    Jiang, Long; Liu, Lu; Cheng, Yuyan; Lin, Yan; Shen, Changbing; Zhu, Caihong; Yang, Sen; Yin, Xianyong; Zhang, Xuejun

    2015-11-15

    Missing heritability is a common problem in genome-wide association studies in complex diseases/traits. To quantify the unbiased heritability estimate, we applied the phenotype correlation-genotype correlation regression in psoriasis genome-wide association data in Han Chinese which comprises 1139 cases and 1132 controls. We estimated that 45.7% heritability of psoriasis in Han Chinese were captured by common variants (s.e.=12.5%), which reinforced that the majority of psoriasis heritability can be covered by common variants in genome-wide association data (68.2%). The results provided evidence that the heritability covered by psoriasis genome-wide genotyping data was probably underestimated in previous restricted maximum likelihood method. Our study highlights the broad role of common variants in the etiology of psoriasis and sheds light on the possibility to identify more common variants of small effect by increasing the sample size in psoriasis genome-wide association studies.

  16. [The professionalized transformation of medical witchcraft in the Qin-Han Dynasties].

    PubMed

    Liu, Yang; Liu, Changhua

    2014-03-01

    By witchcraft, it refers to the activities of imagining and intending to affect or control the object through"supernatural power". Ancient witchcraft was applied extensively in which those applied for medical purpose included sorcery, praying, superstitious art of anti-disaster, and tabooing, were collectively called"medical witchcraft". During the Qin-Han periods, witchcraft was transformed by the theory of Yin-Yang and Five-Phases as a part of technical profession. Among them, the system of demon-ghost witchcraft was replaced by the necromantic ghost system; exorcism and taboo system were infiltrated with the conception of the art of mathematics and technical system; whereas the superstitious art of anti-disaster was replaced by incantation. The remnants of medical witchcraft not yet totally transformed were also applied by the technical professionals of the Qin-Han Dynasties.

  17. PRDM9 gene polymorphism may not be associated with defective spermatogenesis in the Chinese Han population.

    PubMed

    He, Xiao-Jin; Ruan, Jian; Du, Wei-Dong; Cao, Yun-Xia; Chen, Gang; Zuo, Xian-Bo; Peng, Yu-Wan; Wu, Huan; Song, Bing; Zhang, Xue-Jun

    2013-02-01

    PRDM9 is essential for the progression through early meiotic prophase, including double strand break repair, homologous chromosome pairing, and sex body formation during spermatogenesis. In order to evaluate the association of the PRDM9 gene variants with defective spermatogenesis in the Chinese Han population, we assessed two single nucleotide polymorphisms (SNPs) in the PRDM9 gene (rs1874165 and rs2973631) using Sequenom iplex technology in 309 cases of severely defective spermatogenesis (199 cases with non-obstructive azoospermia and 110 cases with severe oligozoospermia) and 377 controls. The allele frequencies of the SNPs were not statistically different between the study groups and the controls (P = 0.95 in rs1874165 and P = 0.80 in rs2973631, respectively). The genetic model analysis of the two SNPs indicated that these SNPs variants may not be associated with defective spermatogenesis in the Chinese Han population.

  18. Clever Hans and his effects: Karl Krall and the origins of experimental parapsychology in Germany.

    PubMed

    De Sio, Fabio; Marazia, Chantal

    2014-12-01

    Shortly before the outbreak of World War I, the so-called Elberfeld horses, the counting and speaking animals, were among the most debated subjects of the newborn comparative psychology. Yet, they have left little trace in the historiography of this discipline, mostly as an appendix of the more famous Clever Hans. Their story is generally told as the prelude to the triumph of reductionistic experimental psychology. By paying a more scrupulous attention than has so far being done to the second life of Hans, and to the endeavours of his second master, Karl Krall, this article explores the story of the Elberfeld horses as an important, if so far neglected, chapter in the history of experimental parapsychology.

  19. [A peculiar man - about Hans Selye, as reflected in his Hungarian connections].

    PubMed

    Szabó, Katalin

    2015-08-30

    Hans Selye made a great impact on the Hungarian medical, scientific and public life. His first Hungarian publication about the alarm-reaction appeared 1938 in the Orvosi Hetilap. His Hungarian relationship was quite extensive after the war as he published, gave lectures, and accepted Hungarian students for specialized training in his Canadian institute saw. The rich documents in archives about Selye are currently being processed and those will surely shed light on Selye's life in further details.

  20. Polymorphism analysis of 15 STR loci in a large sample of Guangdong (Southern China) Han population.

    PubMed

    Chen, Ling; Lu, Huijie; Qiu, Pingming; Yang, Xingyi; Liu, Chao

    2015-11-01

    AmpFℓSTR Sinofiler PCR Amplification Kit is specially developed for Chinese forensic laboratories, but there are little population-genetic data about this kit for Southern China. This kit contains 15 STR loci: D8S1179, D21S11, D7S820, CSF1PO, D3S1358, D13S317, D16S539, D2S1338, D19S433, vWA, D18S51, D6S1043, D12S391, D5S818 and FGA. We have conducted genotyping experiments on the 15 STR loci in 5234 unrelated individuals from Guangdong (Southern China). We observed a total of 243 alleles in the group with the allelic frequency values ranging from less than 0.0001 to 0.3686. Our statistic analysis indicates that the 15 STR loci conform to the Hardy-Weinberg's equilibrium (p>0.05). The highest polymorphism was found at D6S1043 locus and the lowest was found at D3S1358. The combined power of discrimination reached 0.99999999999999999977431 and the combined probability of paternity exclusion reached 0.999999721 for 15 STR loci. Guangdong Han population had significant differences compared with Shaanxi, Shandong and Henan province of Northern China. A Neighbor-joining tree indicates that the Guangdong Han has a close genetic relationship with the Yunnan population. Significant differences were found between Guangdong Han population and other reported populations (Japanese, Philippine, African American, Caucasian, Hispanic and Western Romanian) at 2-11 STR loci. The results may provide useful information for forensic sciences and population genetics studies. The present findings indicate that all the 15 STR loci are highly genetically polymorphic in the Han population of Guangdong.

  1. Association of CLCNKB haplotypes and hypertension in Mongolian and Han populations.

    PubMed

    Su, Xiulan; Chang, Peiye; Liu, Zhiyue; Yan, Meirong; Liu, Guirong; Cui, Hongwei

    2012-01-01

    We investigated a possible association between genetic variations in chloride channel Kb (CLCNKB) gene and essential hypertension (EH) in the Mongolian and Han populations in Inner Mongolia. Our study included 414 unrelated Mongolian herdsmen and 524 Han farmers. Two tagSNPs of CLCNKB (rs945393 and rs10803414) were identified from the Chinese HapMap database based on pairwise r(2) ≥ 0.5 and minor allele frequency ≥0.05. Genotyping was performed using the PCR/ligase detection reaction assay. There was significant difference in allele frequency of rs10803414 between the EH group (35%) and the control group (26%) in the Mongolian population (P < .05). Significant association was identified between rs10803414 and EH in the Mongolian population (P < .05) and rs945393 and EH in the Han population (P < .01). The frequency of haplotype CC in the EH group (9.4%) was significantly higher than in the control group (4.6%) in the Mongolian population; individuals who possessed the CC haplotype had a significantly higher risk of EH in the Mongolian population. There was no association between haplotype and EH in the Han population. After adjusting for age, sex, and other confounding risk factors, only rs10803414 was the risk factor of hypertension in Mongolians. Our results indicate that rs10803414 in CLCNKB confers a significant risk of EH in the Mongolian population and haplotype CC of CLCNKB is a genetic factor for EH in the Mongolian population. Our study expands the association between CLCNKB and EH to a non-European ancestry population and provides the first evidence of a cross-race susceptibility of EH locus.

  2. Dr. Hans Rosling, Keynote - 2013 ARPA-E Energy Innovation Summit

    ScienceCinema

    Rosling, Hans (Professor, International Health, Karolinska Institute; Edutainer, Gapminder.org)

    2016-07-12

    The fourth annual ARPA-E Energy Innovation Summit was held in Washington D.C. in February, 2013. The event brought together key players from across the energy ecosystem - researchers, entrepreneurs, investors, corporate executives, and government officials - to share ideas for developing and deploying the next generation of energy technologies. Dr. Hans Rosling (Professor, International Health, Karolinska Institute; Edutainer, Gapminder.org), gave this keynote address.

  3. Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy.

    PubMed

    Zhou, Xiujuan; Chen, Minglong; Song, Hualian; Wang, Benqi; Chen, Hongwu; Wang, Jing; Wang, Wei; Feng, Shangpeng; Zhang, Fengxiang; Ju, Weizhu; Li, Mingfang; Gu, Kai; Cao, Kejiang; Wang, Dao W; Yang, Bing

    2015-04-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiomyopathy that primarily involves the right ventricle. Mutations in desmosomal genes have been associated with ARVC. But its prevalence and spectrum are much less defined in the Chinese population, especially Han Chinese, a majority ethnic group in China; also the genotype-phenotype correlation regarding left ventricular involvement is still poorly understood. The aim of this study was to elucidate the genotype in Han Chinese patients with ARVC and the phenotype regarding cardiac left ventricle involvement in mutation carriers of ARVC. 48 Han Chinese patients were recruited into the present study based on the Original International Task Force Criteria of ARVC. Clinical data were reassessed according to the modified criteria published in 2010. A total of 36 subjects were diagnosed with ARVC; 12 patients were diagnosed with suspected ARVC. Five desmosomal genes (PKP2, DSG2, DSP, DSC2 and JUP) were sequenced directly from genomic DNA. Among the 36 patients, 21 mutations, 12 of which novel, were discovered in 19 individuals (19 of 36, 53%). The distribution of the mutations was 25% in PKP2, 14% in DSP, 11% in DSG2, 6% in JUP, and 3% in DSC2. Multiple mutations were identified in 2 subjects (2 of 36, 6%); both had digenic heterozygosity. Eight mutations, of which six were novel, were located in highly conserved regions. Seven mutations introduced a stop codon prematurely, which would result in premature termination of the protein synthesis. Two-dimensional echocardiography showed that LDVd and LDVs parameters were significantly larger in nonsense mutation carriers than in carriers of other mutations. In this comprehensive desmosome genetic analysis, 21 mutations were identified in five desmosomal genes in a group of 48 local Han Chinese subjects with ARVC, 12 of which were novel. PKP2 mutations were the most common variants. Left ventricular involvement could be a sign that the patient is a carrier of a

  4. Natural law Judaism? The genesis of bioethics in Hans Jonas, Leo Strauss, and Leon Kass.

    PubMed

    Vogel, Lawrence

    2006-01-01

    Leon Kass is much misunderstood. He is not simply a Republican ideologue who tailored his ideas to break out of the ivory tower and into the halls of power. Nor does he look simply to use human nature as a moral guide. When the full range of his writings is considered and set in the tradition of his teachers, Hans Jonas and Leo Strauss, what emerges is a natural law position colored by religious revelation.

  5. Preparation of the HAN-Based Liquid Propellants for Field Use

    DTIC Science & Technology

    1992-06-01

    of both color and odor could cause confusion and possible misuse, and an investigation of additives that will provide color and odor to the nixtue was...undertakeL The presence of HAN and TEAN in LOP1846 causes the mixture to be acidic. The dye to be used as a colorant must be water soluble , intensely...miscibility, acidity, and reactivity of the propellant limits selection of a potential colorant to one that is water soluble , is readily visible in acidic

  6. Resonant Laser Ignition Study of HAN-HEHN Propellant Mixture (Preprint)

    DTIC Science & Technology

    2008-07-17

    threshold for pulsed, nonresonant laser experiments. d) Unconfined droplets were typically shattered and not completely ignited by thermal or optical...115 mJ) and 248 nm (250 mJ). An argon, fluorine, and helium mixture provided the ArF excimer emission at 193 nm. A krypton, fluorine, and helium ...V., and Shaw, B.D. (2002) Studies of HAN-based monopropellant droplet combustion, Combust. Sci. and Tech., 174, 71. 3.Carleton, F.B., Klein, N

  7. [Does Kehr's sign derive from Hans Kehr? A critical commentary on its documentation?].

    PubMed

    Klimpel, V

    2004-01-01

    Kehr's sign (pain in the left shoulder) is a well-known sign for a rupture of the spleen. After a thorough investigation into the body of research conducted by Hans Kehr, one must come to the conclusion that there is insufficient evidence that the term refers to his own work. The question of why the violent pain in the left shoulder during rupture of the spleen is named after the German gall bladder surgeon will remain a mystery of medical history.

  8. Hans Bethe and Physics in/of the 20th Century

    SciTech Connect

    Schweber, Silvan

    2012-12-12

    I will present some facets of Hans Bethe’s life to illustrate how I have used biography to narrate certain aspects of the history of twentieth century physics. I will focus on post World War II quantum field theory, on the relation between solid state/condensed matter physics and high energy physics, and make some observations regarding certain “top down” views in solid state physics in postmodernity.

  9. Identification of human and animal fecal contamination after rainfall in the Han River, Korea.

    PubMed

    Kim, Ji Young; Lee, Heetae; Lee, Jung Eun; Chung, Myung-Sub; Ko, Gwang Pyo

    2013-01-01

    We investigated the effect of rainfall on the levels and sources of microbial contamination in the Han River, Korea. Thirty-four samples were collected at two sampling sites located upstream and downstream in the river from July 2010 to February 2011. Various fecal indicator microorganisms, including total coliform, fecal coliform, Escherichia coli, Enterococcus spp., somatic and male-specific (F+) coliphage, and four major enteric viruses were analyzed. Rainfall was positively correlated with the levels of fecal coliform and norovirus at both sampling sites. Additionally, rainfall was positively correlated with the levels of total coliform, E. coli, Enterococcus spp., and F+ coliphage at the upstream site. To identify the source of fecal contamination, microbial source tracking (MST) was conducted using both male-specific (F+) RNA coliphage and the Enterococcus faecium esp gene as previously described. Our results clearly indicated that the majority of fecal contamination at the downstream Han River site was from a human source. At the upstream sampling site, contamination from human fecal matter was very limited; however, fecal contamination from non-point animal sources increased following rainfall. In conclusion, our data suggest that rainfall significantly affects the level and source of fecal contamination in the Han River, Korea.

  10. Association of serine racemase gene variants with type 2 diabetes in the Chinese Han population.

    PubMed

    Zhang, Simin; Xiao, Jianzhong; Ren, Qian; Han, Xueyao; Tang, Yong; Yang, Wenying; Zhou, Xianghai; Ji, Linong

    2014-05-04

    A genome-wide association study in the Chinese Han population has identified several novel genetic variants of the serine racemase (SRR) gene in type 2 diabetes. Our purpose was to systematically evaluate the contribution of SRR variants in the Chinese Han population. rs391300 and rs4523957 in SRR were genotyped respectively in the two independent populations. A meta-analysis was used to estimate the effects of SRR in 21,305 Chinese Han individuals. Associations between single-nucleotide polymorphisms and diabetes-related phenotypes were analyzed among 2,615 newly diagnosed type 2 diabetes patients and 5,029 controls. Neither rs391300 nor rs4523957 were associated with type 2 diabetes in populations. Furthermore, meta-analysis did not confirm an association between type 2 diabetes and SRR. In the controls, rs391300-A and rs4523957-G were associated with higher 30-min plasma glucose in an oral glucose tolerance test. The present study did not confirm that SRR was associated with type 2 diabetes.

  11. Polymorphisms in the vitamin D receptor and risk of gout in Chinese Han male population.

    PubMed

    Liu, Shi-guo; Li, Yuan-yuan; Sun, Rui-xia; Wang, Jing-li; Li, Xin-de; Han, Lin; Chu, Nan; Li, Chang-gui

    2015-06-01

    Previous studies have showed that patients with gout showed lower serum 25(OH)D levels. As the specific receptor of vitamin D, VDR plays an important role in regulating immune system by combining with vitamin D. In this study, we investigated whether the functional VDR polymorphisms were associated with susceptibility to gout in Chinese Han male population. A total of 504 patients with gout and 523 gout-free controls were recruited from the Affiliated Hospital of the Medical College, Qingdao University. Genotyping of VDR rs11568820, rs2228570 and rs1544410 was performed by TaqMan allele discrimination assays. An association analysis was carried out using the χ(2) test. A genotype-phenotype analysis was also conducted. Our results showed that polymorphisms of rs11568820 and rs1544410 in VDR were associated with gout in Chinese Han male population. The A allele of both rs11568820 and rs1544410 was associated with the risk of gout [P = 0.012 OR 1.251, 95% CI (1.051-1.490); P = 0.006, OR 1.574, 95% CI (1.139-2.175)]. However, there was no statistic significance between rs2228570 and gout (P = 0.186). Our study suggested that the polymorphisms of VDR may be relevant host susceptibility factors for the development of gout in Chinese Han male population. However, further study should be done in a larger size sample and other ethic to test and verify our result.

  12. The traits of five types of tongue movement in Han of Shaanxi, China.

    PubMed

    He, Xin; Zhang, Jian-Fei; Li, Zeng-Xian; Liu, Cui; Yang, Li-Tao; Wang, Ning; Han, Hua; Qian, Yi-Hua; Wen, You-Feng; Xi, Huan-Jiu

    2012-12-01

    The study sample consisting of 429 people (207 males, 222 females) of Han nationality in Shaanxi, China. Five types of tongue movements were investigated, including tongue rolling, tongue folding, tongue twisting, pointed tongue and clover-leaf tongue. The results revealed that the frequencies of tongue rolling, tongue folding, tongue twisting, pointed tongue and clover-leaf tongue were 63.6, 14.0, 12.6, 54.8 and 0 %, respectively. There were no significant gender differences except with pointed tongue. Compared with other nationalities, tongue rolling, tongue folding, and pointed tongue of Han in Shaanxi had an average frequency. Tongue twisting and clover-leaf tongue had low frequencies. There were significant differences in frequency of clover-leaf tongue between Han and another seven nationalities of China (P < 0.01). Furthermore, only three pairs of trait correlations were exhibited among ten pairs of types of tongue movement combination traits when analyzed using Pearson's correlation coefficient. The data indicated that the correlations of tongue movement were between tongue rolling and tongue folding, between pointed tongue and tongue rolling, and also between tongue folding and pointed tongue, respectively. Additionally, there were significant differences in frequency of tongue movements with age. The possible mechanism of variations of tongue movements with aging may involve the degradation of tongue function, and differential gene activation and modulation, or protein translation.

  13. Association between Common Genetic Variants and Polycystic Ovary Syndrome Risk in a Chinese Han Population

    PubMed Central

    Sun, Ying; Yuan, Yi; Yang, Hua; Li, Jingjie; Feng, Tian; Ouyang, Yongri; Jin, Tianbo; Liu, Ming

    2016-01-01

    Objective: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies affecting 5-7% of reproductive age women worldwide. The aim of our study was to explore the PCOS-related single nucleotide polymorphism (SNP) associations between common genetic variants and PCOS risk in a Han Chinese women population. Methods: In this case-control study, 285 Chinese Han women aged 28.50±6.858 years with PCOS and 299 controls of a mean age of 32.66±7.018 years were compared. We selected recently published genome-wide association studies (GWAS) which identified several genetic loci in PCOS. All the SNPs were genotyped by Sequenom Mass-ARRAY technology. Associations between the gene and the risk of PCOS were tested using various genetic models by Statistical Package for the Social Sciences and Plink. Results: We found that rs705702 in the RAB5B/SUOX was associated with PCOS (odds ratio=1.42; 95% confidence interval=1.08-1.87, p=0.011) and increased the PCOS risk. The genotypic model analysis also showed that rs705702 was associated with PCOS risk. Conclusion: Our results suggest that SNPs rs705702 in gene RAB5B/SUOX was associated with PCOS in Han Chinese women. PMID:27217259

  14. [The prevalence, prevention and treatment of cattle epidemic during the Han-Tang Period].

    PubMed

    Han, Yi

    2013-03-01

    About 21 times of cattle epidemic with rather strong infectivity happened during the Han-Tang Period, including 6 in the Eastern Han Dynasty, 2 in the Jin Dynasty, 4 in the Southern and Northern Dynasties, 8 in the Tang Dynasty and 1in the Five Dynasty. Most of them were spread along the Yellow River and the northern region of the Huai River. The type of cattle epidemic included the acute cattle plague, cattle bovine mange, cattle yellow fever and cattle rotten hoof disease, etc. Its occurrence and prevalence brought a serious influentce on the society of the Han and Tang Dynasties, causing massive mortality of farm cattle, and then the shortage of animal power, and threatening the agriculture, which drew the attention of the governments, physicians, agriculturists, astrologists and Taoists. The medical measures and economic measures were adopted for the prevention and treatment of cattle epidemic. Especially, prescriptions in the books of medicine and agriculture exerted positive effects on the containment of cattle epidemic. On the other hand, its prevalence and the mass mortality of farm cattle, in a way, promoted, to certain extent, the improvement of the government's function of relief, the updating of the methods of agriculture and the creation of new farm tools, and being regarded as a main cause for the technological innovation of agriculture.

  15. Genetic Variation of 25 Y-Chromosomal and 15 Autosomal STR Loci in the Han Chinese Population of Liaoning Province, Northeast China.

    PubMed

    Yao, Jun; Wang, Bao-Jie

    2016-01-01

    In the present study, we investigated the genetic characteristics of 25 Y-chromosomal and 15 autosomal short tandem repeat (STR) loci in 305 unrelated Han Chinese male individuals from Liaoning Province using AmpFISTR® Yfiler® Plus and IdentifilerTM PCR amplification kits. Population comparison was performed between Liaoning Han population and different ethnic groups to better understand the genetic background of the Liaoning Han population. For Y-STR loci, the overall haplotype diversity was 0.9997 and the discrimination capacity was 0.9607. Gene diversity values ranged from 0.4525 (DYS391) to 0.9617 (DYS385). Rst and two multi-dimensional scaling plots showed that minor differences were observed when the Liaoning Han population was compared to the Jilin Han Chinese, Beijing Han Chinese, Liaoning Manchu, Liaoning Mongolian, Liaoning Xibe, Shandong Han Chinese, Jiangsu Han Chinese, Anhui Han Chinese, Guizhou Han Chinese and Liaoning Hui populations; by contrast, major differences were observed when the Shanxi Han Chinese, Yunnan Bai, Jiangxi Han Chinese, Guangdong Han Chinese, Liaoning Korean, Hunan Tujia, Guangxi Zhuang, Gansu Tibetan, Xishuangbanna Dai, South Korean, Japanese and Hunan Miao populations. For autosomal STR loci, DP ranged from 0.9621 (D2S1338) to 0.8177 (TPOX), with PE distributing from 0.7521 (D18S51) to 0.2988 (TH01). A population comparison was performed and no statistically significant differences were detected at any STR loci between Liaoning Han, China Dong, and Shaanxi Han populations. The results showed that the 25 Y-STR and 15 autosomal STR loci in the Liaoning Han population were valuable for forensic applications and human genetics, and Liaoning Han was an independent endogenous ethnicity with a unique subpopulation structure.

  16. Genetic Variation of 25 Y-Chromosomal and 15 Autosomal STR Loci in the Han Chinese Population of Liaoning Province, Northeast China

    PubMed Central

    Yao, Jun; Wang, Bao-jie

    2016-01-01

    In the present study, we investigated the genetic characteristics of 25 Y-chromosomal and 15 autosomal short tandem repeat (STR) loci in 305 unrelated Han Chinese male individuals from Liaoning Province using AmpFISTR® Yfiler® Plus and IdentifilerTM PCR amplification kits. Population comparison was performed between Liaoning Han population and different ethnic groups to better understand the genetic background of the Liaoning Han population. For Y-STR loci, the overall haplotype diversity was 0.9997 and the discrimination capacity was 0.9607. Gene diversity values ranged from 0.4525 (DYS391) to 0.9617 (DYS385). Rst and two multi-dimensional scaling plots showed that minor differences were observed when the Liaoning Han population was compared to the Jilin Han Chinese, Beijing Han Chinese, Liaoning Manchu, Liaoning Mongolian, Liaoning Xibe, Shandong Han Chinese, Jiangsu Han Chinese, Anhui Han Chinese, Guizhou Han Chinese and Liaoning Hui populations; by contrast, major differences were observed when the Shanxi Han Chinese, Yunnan Bai, Jiangxi Han Chinese, Guangdong Han Chinese, Liaoning Korean, Hunan Tujia, Guangxi Zhuang, Gansu Tibetan, Xishuangbanna Dai, South Korean, Japanese and Hunan Miao populations. For autosomal STR loci, DP ranged from 0.9621 (D2S1338) to 0.8177 (TPOX), with PE distributing from 0.7521 (D18S51) to 0.2988 (TH01). A population comparison was performed and no statistically significant differences were detected at any STR loci between Liaoning Han, China Dong, and Shaanxi Han populations. The results showed that the 25 Y-STR and 15 autosomal STR loci in the Liaoning Han population were valuable for forensic applications and human genetics, and Liaoning Han was an independent endogenous ethnicity with a unique subpopulation structure. PMID:27483472

  17. Population data of 17 short tandem repeat loci in 2923 individuals from the Han population of Nantong in East China.

    PubMed

    Yang, Min; Li, Liming; Han, Haijun; Jin, Li; Jia, Dongtao; Li, Shilin

    2016-09-01

    Nantong is located in mid-eastern China, and the Han population in Nantong may be greatly affected by population admixture between northern and southern Han Chinese populations. In this study, we analyzed 17 autosomal short tandem repeat (STR) loci on 2923 unrelated individuals collected from the Han population of Nantong. No significant deviation from Hardy-Weinberg equilibrium was observed at all STR loci, and the expected heterozygosity ranged from 0.6184 to 0.9187. The combined match probability (CMP) was 3.87 × 10(-21), and the combined power of discrimination (CPD) was 99.999999999999999999613 %. No significant difference of allele frequencies was observed between Nantong and other Han populations at all STR loci, as well as Dai, Mongolian, and Tibetan. Significant differences were only observed between Nantong Han and Uyghur at TH01, as well as Nantong Han and Dong at CSF1PO and FGA. Nantong Han showed significant differences between She, Bouyei, and Miao at multiple STR loci.

  18. [Haplotype and linkage analysis of HLA-I classical genes in Chinese Han population].

    PubMed

    Yuan, Fang; Sun, Yu-Ying; Luo, Yuan; Liang, Fei; Liu, Nan; Jin, Li; Liu, Jin-Feng; Liu, Shu-Guang; Xi, Yong-Zhi

    2007-10-01

    The aim of this study was to investigate the parameters of gene frequencies, haplotype frequencies and linkage disequilibrium of HLA-A, -B, -Cw in HLA classical I loci for Chinese Han population. HLA-A, HLA-B and HLA-Cw loci were genotyped in 1014 unrelated China people using low resolution PCR-SSP typing method, and their genetic parameters were analyzed by statistic methods. The results indicated that among all the detected HLA-I genes, A*02 (0.33), A*11 (0.24), B*15 (0.14), B*13 (0.13), Cw*03 (0.25) and Cw*07 (0.18) were the popular gene groups distributing in Chinese Han population, and A*02-B*46 (0.071), A*11-B*15 (0.051), A*02-Cw*01 (0.084), A*11-Cw*03 (0.079), B*46-Cw*01 (0.095) and B*13-Cw*03 (0.071) were the predominant haplotypes in Han population. Additionally, A*02-B*46, A*30-B*13, A*30-Cw*06, A*02-Cw*01, B*46-Cw*01 and B*58-Cw*03 were statistically significant with strong linkage disequilibrium. While A*02-B*15, A*02-B*40, A*24-Cw*03, A*02-Cw*03 and A*31-Cw*03 were in low linkage disequilibrium, among them A*24-Cw*03 appeared frequently in HLA recombination events. In addition, A*02-B*46-Cw*01 (0.075), A*30-B*13-Cw*06 (0.046), A*11-B*13-Cw*03 (0.045), A*33-B*58-Cw*03 (0.044), A*11-B*15-Cw*08 (0.027), A*02-B*38-Cw*07 (0.023) and A*11-B*40-Cw*07 (0.022) were the main extended haplotypes in Han population. In conclusions, this study investigated systematically the genetic polymorphism features of Chinese Han population, which may provide useful genetic parameters for researches in colonial evolution, clinical transplantation and disease susceptibility.

  19. Genetic analysis of 17 Y-STR loci in Han and Korean populations from Jilin Province, Northeast China.

    PubMed

    Han, Yinan; Li, Liming; Liu, Xiaoyang; Chen, Wenqing; Yang, Shuping; Wei, Lanhai; Xia, Mingying; Ma, Teng; Jin, Li; Li, Shilin

    2016-05-01

    In this study, 17 Y chromosomal short tandem repeats (Y-STRs) were analyzed in 302 male individuals from the Chinese Han and Korean populations of Jilin Province. The haplotype diversities of two populations reached 0.99969 and 0.99874, respectively. The Jilin Han and Korean populations differed from each other significantly. The Jilin Han population showed no significant difference from almost any other Han population, but it did show significant differences from most other Chinese ethnic populations. The haplotype frequencies in the Jilin Korean population studied here showed significant differences from all reference populations in earlier reports. These data provide a reference for the Y-STR database in Jilin Province, and they may be valuable for population genetic analysis.

  20. Adsorption and decomposition of monopropellant molecule HAN on Pd(100) and Ir(100) surfaces: A DFT study

    NASA Astrophysics Data System (ADS)

    Banerjee, Sourav; Shetty, Sharath A.; Gowrav, M. N.; Oommen, Charlie; Bhattacharya, Atanu

    2016-11-01

    We have performed density functional theory calculations with the generalized gradient approximation to investigate the catalytic decomposition reactions of one of the most promising monopropellants, hydroxylammonium nitrate (HAN), on two catalytically active single crystal Pd(100) and Ir(100) surfaces, aiming at exploring different reaction pathways and reactivities of these two surfaces towards the catalytic decomposition of HAN. We find that the HAN molecule binds both the Pd(100) and Ir(100) surfaces molecularly in different orientations with respect to the surface. The HONO elimination is found to possess the lowest activation energy on the Pd(100) surface; whereas, NO2 elimination is predicted to show the lowest activation energy on the Ir(100) surface. Exothermicities associated with different reaction steps are also discussed. This is the first theoretical report on the catalytic decomposition reactions of the HAN molecule on the single crystal Pd(100) and the Ir(100) surfaces using the periodic DFT calculations.

  1. Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population.

    PubMed

    Hongdan, Wang; Bing, Kang; Ning, Su; Miao, He; Bo, Zhang; Yuxin, Guo; Bofeng, Zhu; Shixiu, Liao; Zhaoshu, Zeng

    2017-01-01

    At present, the Han nationality is China's main ethnic group and also the most populous nation in the world. This is a great resource to study microsatellite mutations and for the study of ethnogeny. The aim of this study is to investigate the genetic polymorphisms and mutations of 22 autosomal STR loci in 2475 individuals from Henan province, China. DNA is amplified and genotyped using PowerPlex™24 system. The gene frequencies, forensic parameters, and the mutation rate of the 22 STR loci are analyzed. A total of 295 alleles are observed in this Henan Han population, and the allelic frequencies ranged from 0.0003 to 0.5036. In order to investigate the genetic relationships between the Henan Han and the other 14 different populations, our present data were compared with previously published data for the same 15 STR loci. The results indicated that the Henan Han had closer genetic relationships the groups including Minnan Han, Maonan, Yi and Guangdong Han groups while the South morocco population, the Moroccan population, the Malay group, and the Uigur stand away from Henan Han. Except of D2S441, D13S317, PentaE, D2S1338, D5S818, TPOX and D19S433, the mutation events are found in the other 15 STR loci. A total of 40 mutation events are observed in the 15 STR loci. The mutation rates are ranged from 0 to 4.85 × 10(-3). In this study, 39 mutations are single-step mutations, and only one at FGA comprised two steps. STR mutation is commonly existed in paternity testing, while there are no STR mutation studies of the 22 STR loci in the Henan Han population. It is of great importance in forensic individual discrimination and paternal testing.

  2. [A fourth-generation doctor - Hans Selye and his origins from Felvidék (today Slovakia)].

    PubMed

    Kiss, László

    2016-08-01

    Hans Selye regarded himself as the fourth generation of medical dynasty, but in his books he did not name his ancestors. Based on facts from archives and contemporary literature the author demonstrated that the grandfather of Hans Selye was called Schlesinger and he worked in Pruszka (county Trencsén; (today: Pruské, county Trenčín, Slovakia) as a district physician. Orv. Hetil., 2016, 157(33), 1331-1333.

  3. Inverted migration of rare whisker sheatfish in Nong-Han Lake, northeastern Thailand: implications for conservation.

    PubMed

    Phongkaew, P; Arunyawat, U; Swatdipong, A; Hongtrakul, V

    2014-09-12

    Nong-Han Lake, Thailand, sustains the whisker sheatfish (Micronema bleekeri Günther, 1864), which is a rare species of freshwater catfish. Wild-caught whisker sheatfish has been intensively harvested to meet market demand; yet, genetic information about this species remains unknown. To assist with the in situ conservation of whisker sheatfish populations in Nong-Han Lake, 35 and 34 individuals from the middle (MN) and lower (LN) areas of the lake, respectively, were studied using 7 microsatellite loci. Low genetic variation was detected in the MN (HO=0.338, AR=2.710) and LN (HO=0.394, AR=2.714) populations. Genetic differentiation between the 2 populations was significant (FST=0.063, P<0.05). The size of recent populations (NE<50) was found to be 9- to 29-times smaller compared to the estimated historical populations, even though no bottleneck signal was observed. Low genetic diversity was observed, implying that the populations are at risk of being lost from this site. Of note, migration among the populations inhabiting the middle and lower parts of the lake exhibited opposing trends in changes to the genetic structure. This phenomenon might be due to the operation of a regional irrigation gate over the last decade. The information collected here indicates that the whisker sheatfish populations in Nong-Han Lake require consistent fisheries monitoring and management. Further research about the whisker sheatfish populations from the Mekong and Chao Phraya River basins is required to assist national-scale conservation efforts.

  4. Environmental Risk Factors in Han and Uyghur Children with Dyslexia: A Comparative Study

    PubMed Central

    Zhao, Hua; Zhang, Baoping; Chen, Yun; Zhou, Xiang

    2016-01-01

    Background Several studies have been conducted to explore risk factors for dyslexia. However, most studies examining dyslexia have been skewed toward Western countries, and few have considered two nationalities simultaneously. This study focused on differences in dyslexia prevalence and potential environmental risk factors between Han and Uyghur children. Methods A cross-sectional study was conducted in Kashgar and Aksu, cities in Xinjiang province, China. A two-stage sampling strategy was used to recruit 2,854 students in grades 3–6 from 5 primary schools in 5 districts; 2,348 valid student questionnaires were included in the analysis. Dyslexia checklists for Chinese and Uyghur children and pupil rating scales were used to identify children with dyslexia. Questions related to the home literacy environment and reading ability were used to evaluate potential environmental risk factors. Single factor analysis and multivariate logistic regression were used to examine prevalence and risk factors for dyslexia. Results Dyslexia prevalence differed significantly between Han (3.9%) and Uyghur (7.0%) children (P < 0.05), and the boy-to-girl diagnosis ratio was almost 2:1. Multiple logistic regression analysis showed that ethnic differences in dyslexia prevalence between Han and Uyghur children could have occurred because of factors such as mother’s occupation (P = 0.02, OR = 0.04, 95% CI = 0.01–0.68) and the frequency with which parents told stories (P = 0.00, OR = 4.50, 95% CI = 1.67–12.11). Conclusions The prevalence of dyslexia was high in all children, particularly those in the Uyghur group. Environmental factors could have been responsible for some of the differences observed. The results contribute to the early identification and management of dyslexia in children from these two groups and research examining developmental dyslexia and differences in racial genetics. PMID:27416106

  5. Computed tomography measurement of the auricle in Han population of north China.

    PubMed

    Wang, Bo; Dong, Yan; Zhao, Yimin; Bai, Shizhu; Wu, Guofeng

    2011-01-01

    A large number of anthropometric studies of the human auricle have been conducted in various populations. However, data from Han Chinese population are currently not available. The morphology of the auricle is highly complex. Consequently, traditional direct measurement techniques are unable to provide sufficient detail and accuracy. The present study sought to provide anthropometrical data on the auricles of Han Chinese individuals using a three-dimensional (3D) computed tomography (CT) reconstruction technique. A total of 485 data sets were utilised for this study. This sample consisted of data from 241 females aged 18-75 years and 244 males aged 18-74 years. All participants were categorised by gender and further into three age groups. Twelve anthropometrical dimensions of normal auricles were measured with 3D CT. Auricular, tragal, lobular and conchal indices were calculated to further examine the auricles. Earlobes were classified into three basic groups according to the angle of the junction of the earlobe with the cheek. Few of the anthropometrical data showed significant bilateral differences in auricular dimensions. The height of the tragus, lobular length, lobular width, conchal width, protrusion at tragal level and inclination angle of auricles showed no significant differences between males and females. All the linear dimensions of auricles, except the height of the tragus, conchal length and width, increased with age for both males and females. Protrusion at the superaurale and tragal levels showed a decrease of between 4% and 9% for males and 4% and 10% for females across all age groups. This study is the first to report CT measurement of normal auricles in a northern Han Chinese population. We found that this method enabled the complexity of the ear to be measured easily and accurately. Increasing our knowledge of normal auricular dimensions will be beneficial for plastic surgeons.

  6. Analysis of the expression of KIR and HLA-Cw in a Northeast Han population.

    PubMed

    Han, Yu; Zhao, Ling; Jiang, Zhenyu; Ma, Ning

    2013-01-01

    The aim of this study was to investigate the expression of the human leukocyte antigen (HLA)-Cw and killer cell immunoglobulin-like receptor (KIR) genes in a Jilin Han population and to provide a theoretical basis for further studies of their roles in disease. A total of 154 unpaid Jilin Han blood donors were selected and KIR and HLA-Cw genotyping was performed using PCR-SSP. Recognition of HLA-Cw and the corresponding activatory or inhibitory KIR receptor was distinguished according to the identification of HLA-Cw and KIR. In the present study, the expression frequency of HLA-C2(Lys80)+2DL1 was 27.27%, HLA-C1(Asn80)+2DL2/2DL3 was 68.83%, 2DS2+HLA-C1(Asn80) was 9.74% and 2DS1+HLA-C2(Lys80) was 9.74%. Of the individuals in the study, 72.08% expressed only KIR2DL1 without HLA-Cw, 21.43% expressed only KIR2DS1 without HLA-Cw(Lys)-KIR2DL1 and 2.60% expressed only KIR2DS2 without HLA-Cw(Asn)-KIR2DL2/L3. In conclusion, the expression of inhibitory HLA-Cw-KIR is higher than the expression of activating HLA-Cw-KIR and approximately 20% of the individuals separately expressed the activated HLA-Cw-KIR in the Jilin Han population in the present study.

  7. Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.

    PubMed

    Dong, Ming; Li, Jinxin; Tang, Ruqi; Zhu, Ping; Qiu, Fang; Wang, Chan; Qiu, Jie; Wang, Lan; Dai, Yaping; Xu, Ping; Gao, Yueqiu; Han, Chongxu; Wang, Yongzhong; Wu, Jian; Wu, Xudong; Zhang, Kui; Dai, Na; Sun, Weihao; Zhou, Jianpo; Hu, Zhigang; Liu, Lei; Jiang, Yuzhang; Nie, Jinshan; Zhao, Yi; Gong, Yuhua; Tian, Ye; Ji, Hualiang; Jiao, Zhijun; Jiang, Po; Shi, Xingjuan; Jawed, Rohil; Zhang, Yu; Huang, Qinghai; Li, Enling; Wei, Yiran; Xie, Wei; Zhao, Weifeng; Liu, Xiang; Zhu, Xiang; Qiu, Hong; He, Gengsheng; Chen, Weichang; Seldin, Michael F; Gershwin, M Eric; Liu, Xiangdong; Ma, Xiong

    2015-06-01

    Multiple genome-wide association studies of primary biliary cirrhosis (PBC) in both European and Japanese ancestries have shown significant associations of many genetic loci contributing to the susceptibility to PBC. Major differences in susceptibility loci between these two population groups were observed. In this study, we examined whether the most significant loci observed in either European and/or Japanese cohorts are associated with PBC in a Han Chinese population. In 1070 PBC patients and 1198 controls, we observed highly significant associations at CD80 (rs2293370, P = 2.67 × 10(-8)) and TNFSF15 (rs4979462, P = 3.86 × 10(-8)) and significant associations at 17q12-21 (rs9303277), PDGFB (rs715505), NF-κB1 (rs7665090), IL12RB2 (rs11209050), and STAT4 (rs7574865; all corrected P values <0.01). However, no association was observed for POU2AF1 (rs4938534), IL12A (rs485499 and rs2366408), IL7R (rs6897932), CXCR5 (rs715412), SOCS1 (rs725613), and TNFRSF1A (rs1800693). STAT4 (rs7574865) was strongly associated after additional control samples were analyzed. Our study is the first large-scale genetic analysis in a Han Chinese PBC cohort. These results do not only reflect that Han Chinese PBC patients share common genetic susceptibility genes with both their Japanese and European counterparts but also suggest a distinctly different genetic susceptibility profile.

  8. Behaviour of Mg isotopes during chemical weathering in the Han River, South Korea

    NASA Astrophysics Data System (ADS)

    Ryu, Jong-Sik; Lee, Sin-Woo; Lee, Kwang-Sik

    2014-05-01

    Magnesium (Mg) isotopes can be useful for directly constraining the sources of riverine Mg, but the dominant controls on riverine Mg isotope ratios are still uncertain. Here, we report Mg isotope ratios for river waters, experimental leachates and digestions, bulk rocks, and fertilizers in the Han River (HR), South Korea. The HR is composed of two lithologically distinct tributaries: the North Han River (NHR) that flows over only silicate rocks, and the South Han River (SHR) that flows over carbonate rocks in the upper part. The lithological differences between the NHR and SHR are reflected in major ion, 87Sr/86Sr, and δ26Mg geochemistry. In particular, the NHR has lower major ion concentrations but higher 87Sr/86Sr ratios and δ26Mg values than the SHR. Simple mass balances and mixing equations indicate that if the riverine δ26Mg values in the HR system are mainly controlled by conservative mixing between silicate and carbonate weathering, the average carbonate end-member δ26Mg value should be unlikely lower than what are measured in this study. Although multiple process-related fractionations occur in the HR system, the enrichment of 24Mg in the NHR could be mostly controlled by either fractionation or mixing between isotopically distinct reservoirs, such as minerals or fractions (labile and structural Mg), during dissolution, while the little depletion of 24Mg in the SHR could be likely due to the input of groundwater with lower δ26Mg value rather than fractionation. However, it is difficult to identify the contribution of anthropogenic inputs to riverine δ26Mg because their effects are little. This study suggests that the potential of Mg isotopes for constraining Mg sources in a lithologically varied river basin can be enhanced with a better understanding of process-related fractionation.

  9. HLA-G coding region and 3'untranslated region (3'UTR) in two Chinese Han populations.

    PubMed

    Wang, Wen Yi; Tian, Wei; Liu, Xue Xiang; Li, Li Xin

    2016-08-01

    In this study, exons 2-4 and 3'untranslated region (3'UTR) of human leukocyte antigen (HLA)-G gene were investigated for 201 and 104 healthy unrelated Han samples recruited from Hunan Province, southern China and central Inner Mongolia Autonomous Region, northern China, respectively, using sequence-based typing and cloning methods. Totally 12 HLA-G alleles in the coding region, 9 variable sites in 3'UTR, 8 3'UTR haplotypes and 15 HLA-G extended haplotypes (EHs) incorporating the coding region and 3'UTR were observed. Very strong linkage disequilibrium (LD) was observed between HLA-A and HLA-G, and between HLA-G coding region and 3'UTR in each population (all global P=0.0000). Seven HLA-A-G haplotypes showed significant LD in both populations. Three HLA-G alleles in the coding region, 4 polymorphic sites in the 3'UTR, 3 3'UTR haplotypes and 4 HLA-G EHs differed significantly in their distributions between the 2 Chinese Han populations (all P≤0.0001). There was evidence for balancing selection acting on HLA-G 3'UTR positions +3010, +3142 and +3187 in the two populations. The NJ dendrograms demonstrated the existence of two basic HLA-G lineages and indicated that, HLA-G*01:01:01, the most common HLA-G allele, formed a separate lineage from other alleles. Our results shed new lights into HLA-G genetics among Chinese Han populations. The findings reported here are of importance for future studies related to post-transcriptional regulation of HLA-G allelic expression and the potential role of HLA-G in disease association in populations of Chinese ancestry.

  10. [Daytime hypercapnia in patients with obstructive sleep apnea hypopnea syndrome in Han and Uygur nationality].

    PubMed

    He, Z M; Jiang, X L; Da, Piliqing; Ye, Z; Li, J P; Zhang, Q L; Chen, Y; Shi, J; Li, M; Han, F

    2016-11-29

    Objective: To evaluate the incidence and factors related to daytime hypercapnia in Han and Uygur patients with obstructive sleep apnea hypopnea syndrome (OSAHS). Methods: There were 221 patients with OSAHS (include 179 Han patients and 42 Uygur patients) in Sleep Center of Department of Respiratory and Critical Care Medicine of Karamay Central Hospital from 2015, Jan to Dec. All the patients underwent polysomnography (PSG), nocturnal oximetry, daytime blood gas analysis, pulmonary function test and Mouth occlusion pressure (P0.1) results were recorded. The features of hypercapnia was analyzed for patients with OSAHS, and linear regression analysis was used to evaluate the arterial carbon dioxide partial pressure (PaCO2) levels and related factors. Results: Daytime hypercapnia occurred in 16.7% (37/221) of the 221 patients with OSAHS. Compare with no hypercapnia groups, the body mass [(31.6±5.6) vs (27.9±1.7) kg/m(2)], sleep apnea index (AHI) [(40.9±26.3) vs (32.2±20.1) times/h], the percentage of time spent at oxygen saturation below 90 (SIT90) [(38.6±31.9)% vs (23.9±23.6)%], P0.1 [(3.08±2.86) vs (2.03±1.20) mmHg, 1 mmHg=0.133 kPa] were higher in hypercapnia groups, but the mean nocturnal arterial oxygen saturation (MSaO2) [(86.0±15.5)% vs (92.0±3.0)%], the nadir arterial oxygen saturation (LSaO2) [(68.9±13.0)% vs (75.3±9.9)%] and arterial partial pressure of oxygen (PaO2) [(74.5±23.0) vs (86.1±14.8) were lower in hypercapnia groups (all P<0.05). Compare with Han patients with OSAHS, MSaO2 and LSaO2 was lower, PaCO2 and P0.1 was higher in Uygur patients (all P<0.05). Conclusions: Uygur OSAHS patients with hypercapnia have a higher daytime PaCO2 than the Han counterparts. BMI, AHI, MSaO2, P0.1 level are all related with daytime hypercapnia in OSAHS.

  11. Population genetic data of 15 STR loci in Gansu Han population from China.

    PubMed

    Sun, Mao; Zhang, XiaoNan; Wu, Dan; Shen, Qi; Wu, YuanMing

    2015-07-01

    The genetic polymorphisms of 15 autosomal short tandem repeat (STR) loci included in the AmpFISTR Sinofiler™ kit were evaluated in 547 healthy unrelated Han individuals from Gansu, China. All of the loci reached the Hardy-Weinberg equilibrium after the Bonferroni correction (p > 0.0033). These loci were examined to determine allele frequencies and forensic statistical parameters. The combined discrimination power and probability of excluding paternity of the 15 STR loci were 0.999999 and 0.995097, respectively. Results suggested that the 15 STR loci are highly polymorphic, which is suitable for forensic personal identification and paternity testing.

  12. Genetic variants associated with lean and obese type 2 diabetes in a Han Chinese population

    PubMed Central

    Kong, Xiaomu; Xing, Xiaoyan; Hong, Jing; Zhang, Xuelian; Yang, Wenying

    2016-01-01

    Abstract Type 2 diabetes (T2D) is highly phenotypically heterogeneous. Genetics of the heterogeneity of lean and obese T2D is not clear. The aim of the present study was to identify the associations of T2D-related genetic variants with the risks for lean and obese T2D among the Chinese Han population. A case–control study consisting of 5338 T2D patients and 4663 normal glycemic controls of Chinese Han recruited in the Chinese National Diabetes and Metabolic Disorders Study was conducted. T2D cases were identified according to the 1999 World Health Organization criteria. Lean T2D was defined as T2D patient with a body mass index (BMI) <23 kg/m2, whereas obese T2D was defined as T2D patient with a BMI ≥28 kg/m2. Twenty-five genome-wide association studies previously validated T2D-related single-nucleotide polymorphisms (SNPs) were genotyped. A genotype risk score (GRS) based on the 25 SNPs was created. After adjusting for multiple covariates, SNPs in or near CDKAL1, CDKN2BAS, KCNQ1, TCF7L2, CDC123/CAMK1D, HHEX, and TCF2 were associated with the risk for lean T2D, and SNPs in or near KCNQ1 and FTO were associated with the risk for obese T2D. The results showed that the GRS for 25 T2D-related SNPs was more strongly associated with the risk for lean T2D (Ptrend = 2.66 × 10−12) than for obese T2D (Ptrend = 2.91 × 10−5) in our study population. Notably, the T2D GRS contributed to lower obesity-related measurements and greater β-cell dysfunction, including lower insulin levels in oral glucose tolerance test, decreased insulinogenic index, and Homeostasis Model Assessment for β-cell Function. In conclusion, our findings identified T2D-related genetic loci that contribute to the risk of lean and obese T2D individually and additively in a Chinese Han population. Moreover, the study highlights the contribution of known T2D genomic loci to the heterogeneity of lean and obese T2D in Chinese Hans. PMID:27281091

  13. Adding a Capability to Extract Sentiment from Text Using HanDles

    DTIC Science & Technology

    2012-05-01

    Minister of National Defence, 2012 © Sa Majesté la Reine (en droit du Canada), telle que représentée par le ministre de la Défense nationale, 2012...HanDles afin qu’il fasse la distinction entre bonnes et mauvaises critiques de film. Nous avons exécuté ce scénario à trois reprises dans le but de...vérifier à quel point il parvient à classifier correctement les documents. Le premier essai portait sur des critiques de l’appareil Kindle d’Amazon

  14. Shaping biomedical objects across history and philosophy:a conversation with Hans-Jörg Rheinberger.

    PubMed

    García-Sancho, Miguel; González-Silva, Matiana; Jesús Santesmases, María; Rheinberger, Hans-Jörg

    2014-01-01

    Historical epistemology, according to the historian of science Hans-Jörg Rheinberger, is a space through which "to take experimental laboratory work into the realm of philosophy". This key concept, together with the crucial events and challenges of his career, were discussed in a public conversation which took place on the occasion of Rheinberger's retirement. By making sense of natural phenomena in the laboratory, the act of experimenting shapes the object; it is this shaping which became the core of Rheinberger's own research across biology and philosophy into history. For his intellectual agenda, a history of the life sciences so constructed became "epistemologically demanding".

  15. A panel of ancestry informative markers to estimate and correct potential effects of population stratification in Han Chinese.

    PubMed

    Qin, Pengfei; Li, Zhiqiang; Jin, Wenfei; Lu, Dongsheng; Lou, Haiyi; Shen, Jiawei; Jin, Li; Shi, Yongyong; Xu, Shuhua

    2014-02-01

    Population stratification acts as a confounding factor in genetic association studies and may lead to false-positive or false-negative results. Previous studies have analyzed the genetic substructures in Han Chinese population, the largest ethnic group in the world comprising ∼20% of the global human population. In this study, we examined 5540 Han Chinese individuals with about 1 million single-nucleotide polymorphisms (SNPs) and screened a panel of ancestry informative markers (AIMs) to facilitate the discerning and controlling of population structure in future association studies on Han Chinese. Based on genome-wide data, we first confirmed our previous observation of the north-south differentiation in Han Chinese population. Second, we developed a panel of 150 validated SNP AIMs to determine the northern or southern origin of each Han Chinese individual. We further evaluated the performance of our AIMs panel in association studies in simulation analysis. Our results showed that this AIMs panel had sufficient power to discern and control population stratification in Han Chinese, which could significantly reduce false-positive rates in both genome-wide association studies (GWAS) and candidate gene association studies (CGAS). We suggest this AIMs panel be genotyped and used to control and correct population stratification in the study design or data analysis of future association studies, especially in CGAS which is the most popular approach to validate previous reports on genetic associations of diseases in post-GWAS era.

  16. Pharmacokinetics of Lidocaine Hydrochloride Metabolized by CYP3A4 in Chinese Han Volunteers Living at Low Altitude and in Native Han and Tibetan Chinese Volunteers Living at High Altitude.

    PubMed

    Zhang, Juanling; Zhu, Junbo; Yao, Xingchen; Duan, Yabin; Zhou, Xuejiao; Yang, Meng; Li, Xiangyang

    2016-01-01

    To investigate the pharmacokinetics of lidocaine hydrochloride metabolized by cytochrome P450 3A4 (CYP3A4) in Chinese Han volunteers living at low altitude (LA) and in native Han and Tibetan Chinese volunteers living at high altitude, lidocaine hydrochloride 10 mg was given by intramuscular injection to 3 groups: Han volunteers living at LA, and native Han and Tibetan volunteers living at a high altitude. Blood samples were collected before the (baseline) study drug was given and at 0.25, 0.5, 1.0, 1.5, 2.0, 3.0, 4.0, 6.0, 8.0 h after study drug administration. Lidocaine hydrochloride in plasma was determined by RP-HPLC. Pharmacokinetics parameters of lidocaine hydrochloride showed that there were no significant difference between the native Han and Tibetan volunteers, but the t(1/2) was 29.8 and 29.8% higher in 2 groups, respectively, than in the LA group. To study related mechanism, the effects of exposure to chronic high-altitude hypoxia (CHH) on the activity and expression of CYP3A1 were examined in rats. Rats were divided into LA, chronic moderate altitude hypoxia, and CHH groups. CHH caused significant decreases in the activity and protein and mRNA expression of rat CYP3A1 in vivo. This study found significant changes in the disposition of lidocaine hydrochloride in native healthy Tibetan and Han Chinese subjects living at a high altitude in comparison to healthy Han Chinese subjects living at LA, it might be due to significant decreases in the activity and protein and mRNA expression of CYP3A4 under CHH condition.

  17. Association of HMGCR polymorphism with late-onset Alzheimer's disease in Han Chinese

    PubMed Central

    Tan, Meng-Shan; Wang, Hui-Fu; Tan, Chen-Chen; Zhang, Wei; Zheng, Zhan-Jie; Kong, Ling-Li; Wang, Zi-Xuan; Jiang, Teng; Yu, Jin-Tai; Tan, Lan

    2016-01-01

    The 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) acts as a potential genetic modifier for Alzheimer's disease (AD). Previous reports identified that HMGCR rs3846662 polymorphism is associated with biosynthesis of cholesterol in AD pathology. In order to assess the involvement of the HMGCR polymorphism in the risk of late-onset AD (LOAD) in northern Han Chinese, we performed a case–control study of 2334 unrelated subjects (984 cases and 1350 age- and gender-matched controls) to evaluate the genotype and allele distributions of the HMGCR rs3846662 with LOAD. The genotype distribution (GG, AG, AA) of rs3846662 was significantly different between LOAD patients and controls (P = 0.003), but the allele distribution did not reach a significant difference (P = 0.614). After adjusting for age, gender and the APOE ε4 status, the minor A allele of rs3846662 was validated as a protective factor for LOAD in dominant model (OR = 0.796, P = 0.02, 95% CI = 0.657–0.965). Interestingly, we observed rs3846662 polymorphism was only significantly associated with LOAD in APOE ε4 non-carriers (OR = 0.735, P = 0.005, 95% CI = [0.593, 0.912]). In conclusion, our study demonstrates A allele of HMGCR rs3846662 acts as a protective factor for LOAD in northern Han Chinese. PMID:27009838

  18. Genetic polymorphisms of cell adhesion molecules in Behcet’s disease in a Chinese Han population

    PubMed Central

    Zheng, Minming; Zhang, Lijun; Yu, Hongsong; Hu, Jiayue; Cao, Qingfeng; Huang, Guo; Huang, Yang; Yuan, Gangxiang; Kijlstra, Aize; Yang, Peizeng

    2016-01-01

    Cell adhesion molecules (CAMs) are involved in various immune-mediated diseases. This study was conducted to investigate the association of single nucleotide polymorphisms (SNPs) of CAMs with Behçet’s disease (BD) in a Chinese Han population. A two-stage association study was carried out in 1149 BD patients and 2107 normal controls. Genotyping of 43 SNPs was performed using MassARRAY System (Sequenom), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and TaqMan SNP assays. The expression of CD6 and CD11c was examined by real-time PCR and cytokine production was measured by ELISA. A significantly higher frequency of the CT genotype, and a lower frequency of the CC genotype and C allele of CD6 rs11230563 were observed in BD as compared with controls. Analysis of CD11c rs2929 showed that patients with BD had a significantly higher frequency of the GG genotype and G allele, and a lower frequency of the AG genotype as compared with controls. Functional experiments showed an increased CD11c expression and increased production of TNF-α and IL-1beta by LPS stimulated PBMCs in GG carriers of CD11c rs2929 compared to AA/AG carriers. Our study provides evidence that CD6 and CD11c are involved in the susceptibility to BD in a Chinese Han population. PMID:27108704

  19. Gender, body mass index, and PPARγ polymorphism are good indicators in hyperuricemia prediction for Han Chinese.

    PubMed

    Lee, Ming-Fen; Liou, Tsan-Hon; Wang, Weu; Pan, Wen-Harn; Lee, Wei-Jei; Hsu, Chung-Tan; Wu, Suh-Fen; Chen, Hsin-Hung

    2013-01-01

    Hyperuricemia is closely associated with obesity and metabolic abnormalities, which is also an independent risk factor for cardiovascular diseases. The PPARγ gene, which is linked to obesity and metabolic abnormalities in Han Chinese, might be considered a top candidate gene that is involved in hyperuricemia. This study recruited 457 participants, aged 20-40 years old, to investigate the associations of the PPARγ gene and metabolic parameters with hyperuricemia. Three tag-single nucleotide polymorphisms, rs2292101, rs4684846, and rs1822825, of the PPARγ gene were selected to explore their association with hyperuricemia. Risk genotypes on rs1822825 of the PPARγ gene exhibited statistical significance with hyperuricemia (odds ratio: 1.9; 95% confidence interval: 1.05-3.57). Although gender, body mass index (BMI), serum total cholesterol concentration, or protein intake per day were statistically associated with hyperuricemia, the combination of BMI, gender, and rs1822825, rather than that of age, serum lipid profile, blood pressure, and protein intake per day, satisfied the predictability for hyperuricemia (sensitivity: 69.3%; specificity: 83.7%) in Taiwan-born obese Han Chinese. BMI, gender, and the rs1822825 polymorphism in the PPARγ gene appeared good biomarkers in hyperuricemia; therefore, these powerful indicators may be included in the prediction of hyperuricemia to increase the accuracy of the analysis.

  20. CHRNA5 polymorphisms and risk of lung cancer in Chinese Han smokers

    PubMed Central

    Huang, Chong-Ya; Xun, Xiao-Jie; Wang, A-Jing; Gao, Ya; Ma, Jing-Yuan; Chen, Yuan-Tang; Jin, Tian-Bo; Hou, Peng; Gu, Shan-Zhi

    2015-01-01

    Lung cancer is the most frequent cancer among men in many countries. It is the result of interactions between genetic and environmental factors, among which tobacco smoking is a key environmental factor. CHRNA5, Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide-5, was previously reported to be associated with lung cancer risk. To identify the genetic susceptibility and tobacco smoking that influence lung cancer risk in Han population, we performed a case-control study in 228 patients and 301 controls. These data were compared using the χ2-test, genetic model analysis, and haplotype analysis. rs495956, rs680244, rs601079, rs555018, 588765 and rs11637635 showed an increased risk of lung cancer in both allelic model and genetic mode analysis. The genotype G/A-A/A of rs11637635 was most strongly associated with a 2.17-fold increased risk of lung cancer in dominant model (p = 0.018). One SNP, rs684513, was associated with a 0.645-fold decreased risk (p = 0.033) in allelic model analysis. By haplotype association analysis, haplotype sequences CTTATCAAAGA and GA of CHRNA5 were found to be associated with a 2.03-fold and 1.91-fold increased lung cancer risk (p < 0.05). Our results, combined with those from previous studies, suggest that genetic variation in CHRNA5 may influence susceptibility to lung cancer among Han smokers. PMID:26693074

  1. Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population.

    PubMed

    Li, Jun; You, Yang; Yue, Weihua; Yu, Hao; Lu, Tianlan; Wu, Zhiliu; Jia, Meixiang; Ruan, Yanyan; Liu, Jing; Zhang, Dai; Wang, Lifang

    2016-01-01

    Autism spectrum disorder (ASD) is a group of severe neurodevelopmental disorders. Epigenetic factors play a critical role in the etiology of ASD. Enhancer of zest homolog 2 (EZH2), which encodes a histone methyltransferase, plays an important role in the process of chromatin remodeling during neurodevelopment. Further, EZH2 is located in chromosome 7q35-36, which is one of the linkage regions for autism. However, the genetic relationship between autism and EZH2 remains unclear. To investigate the association between EZH2 and autism in Chinese Han population, we performed a family-based association study between autism and three tagged single nucleotide polymorphisms (SNPs) that covered 95.4% of the whole region of EZH2. In the discovery cohort of 239 trios, two SNPs (rs740949 and rs6464926) showed a significant association with autism. To decrease false positive results, we expanded the sample size to 427 trios. A SNP (rs6464926) was significantly associated with autism even after Bonferroni correction (p=0.008). Haplotype G-T (rs740949 and rs6464926) was a risk factor for autism (Z=2.655, p=0.008, Global p=0.024). In silico function prediction for SNPs indicated that these two SNPs might be regulatory SNPs. Expression pattern of EZH2 showed that it is highly expressed in human embryonic brains. In conclusion, our findings demonstrate that EZH2 might contribute to the genetic etiology of autism in Chinese Han population.

  2. Hans Georg Trüper (1936–2016) and His Contributions to Halophile Research

    PubMed Central

    Oren, Aharon

    2016-01-01

    Prof. Hans Georg Trüper, one of the most important scientists in the field of halophile research, passed away on 9 March 2016 at the age of 79. I here present a brief obituary with special emphasis on Prof. Trüper’s contributions to our understanding of the halophilic prokaryotes and their adaptations to life in hypersaline environments. He has pioneered the study of the halophilic anoxygenic phototrophic sulfur bacteria of the Ectothiorhodospira—Halorhodospira group. Some of the species he and his group isolated from hypersaline and haloalkaline environments have become model organisms for the study of the mechanisms of haloadaptation: the functions of three major organic compounds – glycine betaine, ectoine, and trehalose – known to serve as “compatible solutes” in halophilic members of the Bacteria domain, were discovered during studies of these anoxygenic phototrophs. Prof. Trüper’s studies of hypersaline alkaline environments in Egypt also led to the isolation of the first known extremely halophilic archaeon (Natronomonas pharaonis). The guest editors dedicate this special volume of Life to the memory of Prof. Hans Georg Trüper. PMID:27187481

  3. IMPA2 polymorphisms and risk of ischemic stroke in a northwest Han Chinese population

    PubMed Central

    Ma, Qiaoya; Yang, Ying; Na, Yuyan; Jin, Tianbo; Xue, Yidong; Shi, Yuting; Li, Chen; Zhang, Wanggang

    2016-01-01

    Genetic association analysis has suggested that IMPA2 is a susceptibility gene for ischemic stroke (IS). To explore the association between IMPA2 polymorphisms and the risk of IS in a Han Chinese population, candidate gene association was performed using data from a case-control study of 488 IS patients and 503 control subjects. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association, and associations were evaluated under dominant, recessive, and additive genetic models using PLINK software. There was a statistically significant difference in the “TC” genotype frequency of the IMPA2 polymorphism rs589247, between cases and controls (50.0% vs. 45.3%). Under the dominant model, rs589247 was associated with an increased risk of IS (OR=1.32, 95%CI: 1.01-1.73; P=0.040). There were no other associations between any of the seven additional IMPA2 polymorphisms and IS risk. This study is the first to find a correlation between an IMPA2 polymorphism and IS risk in a northwest Han Chinese population. These results may help to elucidate the molecular pathogenesis of this disease, and could potentially be used to predict IS risk. However, further studies are still needed to validate this association in other populations and with larger sample sizes. PMID:27661109

  4. Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

    PubMed Central

    Arafat, Ahmed; Jing, Peng; Ma, Yuping; Pu, Miao; Nan, Gai; Fang, He; Chen, Chen; Fei, Yin

    2017-01-01

    Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequencing to identify potential pathogenic variants of 308 genes in 68 Han Chinese patients with unexplained EIEE. A filter process was performed to prioritize rare variants of potential functional significance. In all cases where parental testing was accessible, Sanger sequencing confirmed the variants and determined the parental origin. In 15% of patients (n = 10/68), we identified nine de novo pathogenic variants, and one assumed de novo pathogenic variant in the following genes: CDKL5 (n = 2), STXBP1 (n = 2), SCN1A (n = 3), KCNQ2 (n = 2), SCN8A (n = 1), four of the variants are novel variants. In 4% patients (n = 3/68), we identified three likely pathogenic variants; two assumed de novo and one X-linked in the following genes: SCN1A (n = 2) and ARX (n = 1), two of these variants are novel. Variants were assumed de novo when parental testing was not available. Our findings were first reported in Han Chinese patients with unexplained EIEE, enriching the EIEE mutation spectrum bank. PMID:28387369

  5. 50 Years of Bong-Han Theory and 10 Years of Primo Vascular System

    PubMed Central

    Soh, Kwang-Sup; Kang, Kyung A.; Ryu, Yeon Hee

    2013-01-01

    The primo vascular system (PVS) was first introduced by Bong-Han Kim via his five research reports. Among these the third report was most extensive and conclusive in terms of the PVS anatomy and physiology relating to the acupuncture meridians. His study results, unfortunately, were not reproduced by other scientists because he did not describe the materials and methods in detail. In 2002, a research team in Seoul National University reinitiated the PVS research, confirmed the existence of PVS in various organs, and discovered new characteristics of PVS. Two important examples are as follows: PVS was found in the adipose tissue and around cancer tissues. In parallel to these new findings, new methods for observing and identifying PVS were developed. Studies on the cell and material content inside the PVS, including the immune function cells and stem cells, are being progressed. In this review, Bong-Han Kim's study results in his third report are summarized, and the new results after him are briefly reviewed. In the last section, the obstacles in finding the PVS in the skin as an anatomical structure of acupuncture meridian are discussed. PMID:23983793

  6. Single nucleotide polymorphisms of TNFAIP3 are associated with systemic lupus erythematosus in Han Chinese population.

    PubMed

    Han, J-W; Wang, Y; Li, H-B; Alateng, C; Bai, Y-H; Sun, Z-Q; Lv, X-X; Wu, R-N

    2016-04-01

    The polymorphisms of tumour necrosis factor alpha-induced protein 3 (TNFAIP3) have been found to associate with several autoimmune diseases. This study aimed to explore the association of single nucleotide polymorphisms (SNPs) of TNFAIP3 gene with systemic lupus erythematosus (SLE) in Han Chinese. Thirty-two SNPs were genotyped in 284 patients with SLE and 630 controls using the ligation detection reaction (LDR) method. The quality control steps and statistical analyses were performed using the PLINK 1.07 package and HAPLOVIEW software. We found that 13 SNPs in TNFAIP3 showed significant association with SLE (P < 1.85 × 10(-3)), and all of them were in high linkage disequilibrium (LD). After conditioning on the SNP rs2230926, other 12 SNPs did not show association (P > 0.27). All 13 SNPs showed most significant association in the dominant model. In haplotype analysis, a long risk SNP haplotype (GCCCGTGTCATGG) showed most significant association (P = 1.00 × 10(-4)). In conclusion, our data suggest that TNFAIP3 is a susceptible gene for SLE in the Han Chinese population.

  7. Gene environment interaction of GALNT2 and APOE gene with hypertension in the Chinese Han Population.

    PubMed

    Zhang, Xuejuan; Zhao, Haiping; Zhang, Jietao; Han, Di; Zheng, Yu; Guo, Xiaozi; He, Dian; Guo, Jin; Wang, Yingcui

    2015-01-01

    In some GWAs studies, GALNT2 and APOE polymorphisms have been identified to be related to alterations of plasma or serum HDL-C and TG concentrations. The purpose of our study is to assess the contribution of GALNT2 rs4846914, APOE rs429358, rs7412, rs405509 variants, and several environmental factors to the development of hypertension disease in the China Han population. A hospital-based case-control study was conducted. Cases were hypertension (n=211) and controls were normal participants (n=434). The AA, AG, and GG genotype frequencies of GALNT2 rs4846914 were 22.8%, 43.1%, and 34.1% in hypertension subjects, and 35.3%, 44.2%, and 20.5% in controls (P<0.05), respectively. The OR of the AG genotype adjusted for all risk factors compared to the AA genotype was 1.61 (95%CI: 1.02 to 2.56) and to the GG genotype 2.67 (95%CI: 1.59 to 4.488). There was no significant difference between the APOE rs429358, rs7412, and rs405509 genotype frequencies in hypertension and control subjects. The present work indicates that SNP rs4846914 in GALNT2 gene is related to an increased risk of hypertension in China Han population, but the APOE gene is not.

  8. Association of STAT4 polymorphisms with hepatitis B virus infection and clearance in Chinese Han population.

    PubMed

    Jiang, Xianzhong; Su, Kunkai; Tao, Jingjing; Fan, Rongli; Xu, Yi; Han, Haijun; Li, Lanjuan; Li, Ming D

    2016-11-01

    Genome-wide association study indicates that STAT4 is a plausible candidate for an association study with HBV-related liver diseases. We aimed to examine the roles of STAT4 polymorphisms on HBV-related liver diseases in a Chinese Han population. We selected 13 SNPs in STAT4 based on the HapMap database to investigate their associations in 3,033 participants. SNP rs7574865 was significantly associated with HBV infection [odds ratio (OR) 1.15; 95 % confidence interval (CI) 1.00, 1.31; P = 0.046] and clearance (OR 1.17; 95 % CI 1.02, 1.33; P = 0.028). Further, haplotype-based association analysis indicated that the haplotype CTCTT, formed by SNPs rs8179673, rs7574865, rs4274624, rs11889341, and rs10168266, was significantly associated with HBV infection (OR 0.87; 95 % CI 0.76, 0.99; P = 0.022) and clearance (OR 0.86; 95 % CI 0.75, 0.99; P = 0.018). Bioinformatics analysis of these SNPs predicted that they participate in transcriptional regulation. Taken together, our findings demonstrate that variants in STAT4 play a critical role in HBV infection and clearance in the Chinese Han population.

  9. Medicinal use of earths and minerals from Hippocrates to Sir Hans Sloane and beyond.

    PubMed

    Retsas, Spyros

    2012-12-01

    In 1931 two pharmaceutical drawers containing mineral specimens, belonging to Sir Hans Sloane, the 18th century collector, Royal Physician, President of the Royal Society and of the Royal College of Physicians of London, were found in the Department of Botany of the Natural History Museum (NHM) of London. The drawers, each divided into 49 compartments, contained a total of 107 mineral pharmaceutical specimens, some labelled as mercury or white arsenic. Their registration, identification with the Sloane Manuscript Catalogues and subsequent transfer to the Mineralogy department of the NHM where one of these drawers is now on public display, had been documented by 1935. In antiquity therapeutic empiricism attributed medicinal properties to animal products, plants and minerals, including the soil of specific geographic locations. This communication traces the medicinal use of certain earths and minerals, listed in Sir Hans Sloane's manuscript catalogues, to classical antiquity with a reference to Arsenic compounds, which in our time are finding application in the treatment of acute promyelocytic leukaemia and to Terra Lemnia, a celebrated antidote of repute spanning twenty centuries, also included in the Sloane collections.

  10. The Association between the LPA Gene Polymorphism and Coronary Artery Disease in Chinese Han Population

    PubMed Central

    Song, Zi-Kai; Wu, Hai-Di; Cao, Hong-Yan

    2014-01-01

    Lp(a) has been well known as an independent risk factor for coronary artery disease (CAD). The LPA gene, as it encodes apo(a) of the Lp(a) lipoprotein particle, was associated with increased risk of CAD. The purpose of this study was to analyze the relationship between the polymorphisms of LPA gene and CAD in Chinese Han population. Five SNPs (rs1367211, rs3127596, rs6415085, rs9347438, and rs9364559) in the LPA gene were genotyped using Sequenom MassARRAY time-of-flight mass spectrometer (TOF) in 560 CAD patients as case group and 531 non-CAD subjects as control group. The numbers of these two groups were from Chinese Han ancestry. The results showed that allele (P = 0.046) and genotype (P = 0.026) of rs9364559 in the LPA gene was associated with CAD. The frequency of rs9364559 minor allele (G) in case group was obviously higher than that in control group. Results of haplotype analysis showed that 4 haplotypes which contained rs9364559-G were associated with increased risk of CAD in this population. This study explored rs9364559 in the LPA gene may be associated with the pathogenesis of CAD; and the risk of CAD might be higher in the population carrying 4 haplotypes of different blocks in the LPA gene. PMID:24790998

  11. Genetic association between NRG1 and schizophrenia, major depressive disorder, bipolar disorder in Han Chinese population.

    PubMed

    Wen, Zujia; Chen, Jianhua; Khan, Raja Amjad Waheed; Song, Zhijian; Wang, Meng; Li, Zhiqiang; Shen, Jiawei; Li, Wenjin; Shi, Yongyong

    2016-04-01

    Schizophrenia, major depressive disorder, and bipolar disorder are three major psychiatric disorders affecting around 0.66%, 3.3%, and 1.5% of the Han Chinese population respectively. Several genetic linkage analyses and genome wide association studies identified NRG1 as a susceptibility gene of schizophrenia, which was validated by its role in neurodevelopment, glutamate, and other neurotransmitter receptor expression regulation. To further investigate whether NRG1 is a shared risk gene for major depressive disorder, bipolar disorder as well as schizophrenia, we performed an association study among 1,248 schizophrenia cases, 1,056 major depression cases, 1,344 bipolar disorder cases, and 1,248 controls. Totally 15 tag SNPs were genotyped and analyzed, and no population stratification was found in our sample set. Among the sites, rs4236710 (corrected Pgenotye  = 0.015) and rs4512342 (Pallele  = 0.03, Pgenotye  = 0.045 after correction) were associated with schizophrenia, and rs2919375 (corrected Pgenotye  = 0.004) was associated with major depressive disorder. The haplotype rs4512342-rs6982890 showed association with schizophrenia (P = 0.03 for haplotype "TC" after correction), and haplotype rs4531002-rs11989919 proved to be a shared risk factor for both major depressive disorder ("CC": corrected P = 0.009) and bipolar disorder ("CT": corrected P = 0.003). Our results confirmed that NRG1 was a shared common susceptibility gene for major mental disorders in Han Chinese population.

  12. Genetic polymorphisms in ALDH2 are associated with drug addiction in a Chinese Han population.

    PubMed

    Zhang, Chan; Ding, Heng; Cheng, Yujing; Chen, Wanlu; Li, Qi; Li, Qing; Dai, Run; Luo, Manlin

    2017-01-31

    We investigated the association between single nucleotide polymorphisms (SNPs) in ALDH2, which has been associated with alcohol dependence and several types of diseases, and the risk of drug addiction in a Chinese Han population. In a case-control study that included 692 cases and 700 healthy controls, eight SNPs in ALDH2 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender. We determined that rs671 is significantly associated with a 1.551-fold increased drug addiction risk (95% CI = 1.263-1.903; p < 0.001). In the genetic model analysis, we found that rs671 is associated with an increased risk of drug addiction under additive, dominant and recessive models (p < 0.001), while rs886205, rs441 and rs4646778 displayed a decreased drug addiction risk under additive and recessive model, respectively (p < 0.05). SNP rs671 remained significant after Bonferroni correction (p<0.00125). Additionally, we observed that haplotype "GTCAC" was associated with increased drug addiction risk (OR = 1.668; 95% CI, 1.328-2.094, p < 0.001); in contrast, "ATCGC" was a protective haplotype for drug addiction risk (OR = 0.444; 95% CI, 0.281-0.704, p < 0.001). Our findings showed that ALDH2 polymorphisms are significantly associated with the risk of drug addiction in the Chinese Han population.

  13. Parity and litter size effects on maternal behavior of Small Tail Han sheep in China.

    PubMed

    Lv, Shen-Jin; Yang, Yan; Li, Fu-Kuan

    2016-03-01

    The effects of parity and litter size on maternal behavior of Small Tail Han sheep was investigated at Linyi University, China. Sixty-eight ewes were observed from parturition to weaning. Continuous focal animal sampling was used to quantify the duration of maternal behaviors. Ewe feces were collected every 2 days and estradiol concentration was measured with an enzyme immunoassay kit. All lambs were weighed 24 h after parturition and again at 35 days of age. Parity increased sucking, following, grooming, low-pitched bleat, head-up and udder-refusal behavior and decreased aggressive behavior (P < 0.01, P < 0.01, P < 0.05, P < 0.05, P < 0.05, P < 0.05, P < 0.01, respectively), and litter size showed significant effect on sucking, following and low-pitched bleat behavior (P < 0.05, P < 0.01, P < 0.05, respectively). The lambs of multiparous ewes were significantly heavier than primiparous ewes at birth (P < 0.01) and were significantly heavier at weaning age (P < 0.01). Similar results were founded for birth weight and weaning weight gain in litter size (P < 0.01, P < 0.01, respectively). Estradiol concentration in feces was higher in multiparous ewes than primiparous ewes. Parity and litter size may have effects on maternal behavior during lactation. Ewes that have 2-3 lambs may be more suitable for production of Small Tail Han sheep in China.

  14. Genetic variants in TERT are associated with risk of gastric cancer in a Chinese Han population

    PubMed Central

    Duan, Xianglong; Cao, Wei; Wang, Lijie; Liu, Sida; Liu, Zhao; Zhang, Bolun; Yang, Hua; Feng, Tian; Zhang, Jiayi; Zhang, Xiyang; Long, Yanbin; Jin, Tianbo

    2016-01-01

    Telomerase reverse transcriptase (TERT) is a gene within the cancer susceptibility region located at Chr5p15.33, which is associated with multiple cancer types. In this study, we validated the association between TERT polymorphisms and gastric cancer (GC) risk with a case-control study in a Chinese Han population. A total of 302 GC patients and 300 control individuals were recruited. We identified three single nucleotide polymorphisms (SNPs) in TERT that were associated with GC. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in logistic regression models after adjusting for age and gender to assess the association. The minor alleles of three SNPs were associated with increased GC risk inallelic model analysis. For two of the SNPs, rs10069690 and rs2853676,, the dominant and additive model frequencies were higher in GC cases compared to controls. Further haplotype analysis revealed a protective effect of haplotype “CG” of the TERT gene, while the haplotype “TA” increased GC risk.Our resultsprovide new evidence for the association between TERT and GC susceptibility in the Chinese Han population. PMID:27825130

  15. 50 years of bong-han theory and 10 years of primo vascular system.

    PubMed

    Soh, Kwang-Sup; Kang, Kyung A; Ryu, Yeon Hee

    2013-01-01

    The primo vascular system (PVS) was first introduced by Bong-Han Kim via his five research reports. Among these the third report was most extensive and conclusive in terms of the PVS anatomy and physiology relating to the acupuncture meridians. His study results, unfortunately, were not reproduced by other scientists because he did not describe the materials and methods in detail. In 2002, a research team in Seoul National University reinitiated the PVS research, confirmed the existence of PVS in various organs, and discovered new characteristics of PVS. Two important examples are as follows: PVS was found in the adipose tissue and around cancer tissues. In parallel to these new findings, new methods for observing and identifying PVS were developed. Studies on the cell and material content inside the PVS, including the immune function cells and stem cells, are being progressed. In this review, Bong-Han Kim's study results in his third report are summarized, and the new results after him are briefly reviewed. In the last section, the obstacles in finding the PVS in the skin as an anatomical structure of acupuncture meridian are discussed.

  16. ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese

    PubMed Central

    2014-01-01

    Introduction ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese. Methods We selected seven single nucleotide polymorphisms (SNPs) within ETS1 based on HapMap data and previous genome-wide association study. Genotyping involved the TaqMan method in 1,015 patients with AS and 1,132 healthy controls from Shandong Province, and 352 AS patients and 400 healthy controls from Ningxia, a northwest region in China. Gene expression was determined by real-time PCR. Results The SNP rs1128334 was strongly associated with AS (odds ratio 1.204, 95% confidence interval 1.06-1.37; P = 0.005). This association was confiexrmed in the Ningxia population (P = 0.015). Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls. In addition, ETS1 expression was lower in AS patients than controls. The risk allele A of rs1128334 and haplotype A-T of rs1128334 and rs4937333 were associated with decreased expression of ETS1. Conclusions Common variants in ETS1 may contribute to AS susceptibility in Han Chinese people. PMID:24708692

  17. Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

    PubMed

    He, Sihan; Tan, Ting; Song, Zhi; Yuan, Lamei; Deng, Xiong; Ni, Bin; Chen, Yong; Deng, Hao

    2016-01-12

    Parkinson's disease (PD, OMIM 168600) is a neurodegenerative disorder featured by degeneration of melanin-positive dopaminergic neurons. Epidemiologic studies have suggested that PD and malignant melanoma (MM) might share common genetic components. Recently, the p.R160W variant in the melanocortin 1 receptor gene (MC1R, OMIM 155555), a risk factor for MM, has been identified to be associated with PD in Spanish population. To explore whether the MC1R variants are associated with sporadic PD in Chinese population, we designed a case-control comparison study and studied three variants, including rs3212366 (p.F196L), rs33932559 (p.I120T) and rs34090186 (p.R67Q), in the MC1R gene in 512 Chinese Han patients with sporadic PD and 512 age, gender and ethnicity matched normal controls. For rs3212366, only the TT genotype was identified in both PD and control cohorts. For variants rs33932559 and rs34090186, we did not identify any statistically significant difference in either genotypic distribution or allelic distribution between the PD cohort and control cohort, and in addition, we did not identify any related haplotype that would either increase the risk for PD or play a protective role against PD. Our data suggest that none of the three variants of the MC1R gene and related haplotypes be associated with sporadic form of PD in Chinese Han population from Mainland China.

  18. Genetic polymorphism and evolutionary differentiation of Eastern Chinese Han: a comprehensive and comparative analysis on KIRs

    PubMed Central

    Yin, Caiyong; Hu, Li; Huang, Huijie; Yu, Yanfang; Li, Zheng; Ji, Qiang; Kong, Xiaochao; Wang, Zhongqun; Yan, Jinchuan; Yan, Jiangwei; Zhu, Bofeng; Chen, Feng

    2017-01-01

    Killer cell immunoglobulin-like receptor genes, namely KIRs, cluster together within the 160 kb genomic DNA region. In this study, we used PCR-SSP approach and successfully identified the genotype of 17 KIR genes in 123 independent healthy donors residing in the Jiangsu province, China. All individuals were positive at the 7 genes. The observed carrier gene frequencies (OFs) of remaining 10 KIRs ranged from 14.63% (KIR2DS3) to 95.93% (KIR3DL1). We found 27 distinct genotypes excluding KIR1D. The most frequent occurred in 63 individuals (51.22%). The linkage disequilibrium analysis signified 29 positive and 6 negative relations in 45 pairwise comparisons. To study population differentiation, we drew a Heatmap based on the data of KIRs from 59 populations and conducted Hierarchical Clustering by Euclidean distances. We next validated our results by estimating pairwise DA distances and illustrating a Neighbor-Joining tree, as well as a MDS plot covering 3 additional Chinese Han groups. The phylogenetic reconstruction and cluster analysis strongly indicated a genetically close relationship between Eastern and Jilin Hans. In conclusion, the present study provided a meritorious resource of KIR genotyping for population genetics, and could be helpful to uncover the genetic mechanism of KIRs in immune disease in the future. PMID:28205529

  19. Autonomous dynamics in neural networks: the dHAN concept and associative thought processes

    NASA Astrophysics Data System (ADS)

    Gros, Claudius

    2007-02-01

    The neural activity of the human brain is dominated by self-sustained activities. External sensory stimuli influence this autonomous activity but they do not drive the brain directly. Most standard artificial neural network models are however input driven and do not show spontaneous activities. It constitutes a challenge to develop organizational principles for controlled, self-sustained activity in artificial neural networks. Here we propose and examine the dHAN concept for autonomous associative thought processes in dense and homogeneous associative networks. An associative thought-process is characterized, within this approach, by a time-series of transient attractors. Each transient state corresponds to a stored information, a memory. The subsequent transient states are characterized by large associative overlaps, which are identical to acquired patterns. Memory states, the acquired patterns, have such a dual functionality. In this approach the self-sustained neural activity has a central functional role. The network acquires a discrimination capability, as external stimuli need to compete with the autonomous activity. Noise in the input is readily filtered-out. Hebbian learning of external patterns occurs coinstantaneous with the ongoing associative thought process. The autonomous dynamics needs a long-term working-point optimization which acquires within the dHAN concept a dual functionality: It stabilizes the time development of the associative thought process and limits runaway synaptic growth, which generically occurs otherwise in neural networks with self-induced activities and Hebbian-type learning rules.

  20. Impact of strabismus on the quality of life of Chinese Han teenagers

    PubMed Central

    Tu, Changsen; Ye, Liang; Jiang, Longfei; Wang, Yuwen; Li, Yingzi

    2016-01-01

    Background Although much research has been conducted on the impact of strabismus on the quality of life (QoL) of adults, the effect of this condition on teenagers has not been extensively studied. This study therefore aimed to assess the effect of strabismus on the vision-related QoL of Chinese teenagers. Methods The Chinese version of the 25-item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) was self-administered by 1,040 teenagers with strabismus and 1,002 individuals with normal vision. All the participants were from the Chinese Han population. The independent samples t-test was used to compare QoL between teenagers with and without strabismus. Results The majority of scores on the NEI-VFQ-25 domains were significantly different between the two groups. QoL was significantly lower in individuals with strabismus compared with teenagers with normal vision on all domains, with the exception of social functioning. Conclusion Statistically significantly lower vision-related QoL scores were found in Chinese Han teenagers with strabismus compared with those without strabismus. PMID:27354771

  1. [Hans Gross and the beginning of criminology on a scientific basis].

    PubMed

    Bachhiesl, Christian

    2007-01-01

    Modern criminology--if one wants to consider it a separate scientific discipline at all--is usually perceived as being mainly influenced by the methods of natural sciences supplemented by components from the field of psychology, which, at least in some of its conceptions, tends to define itself as a natural science, too. If we take a look at the history of science, we will see development of criminology in this direction was not necessarily inevitable. The scientific work of the Austrian Hans Gross (1847-1915), one of the founding fathers of scientific criminology, serves as an example of the way how natural sciences and their exact methods became established in the methodological apparatus of modern criminology, although in praxi his claim for the application of exact methods was all too often replaced by irrational and intuitive ways of working. Still, Hans Gross' fundamental decision for the exact methods derived from the natural sciences is an important step towards a criminology that can be understood as a part of natural sciences, largely superseding the methods of cultural sciences and anthropological philosophy. This approach made the (criminal) human being an object of measurement and can result in the concept of man as a mere phenomenon of quantity. This is, on the one hand, ethically questionable; on the other hand, it made modern criminology more efficient and successful.

  2. Associations between polymorphisms of HLA-B gene and postmenopausal osteoporosis in Chinese Han population.

    PubMed

    Li, S-M; Zhou, D-X; Liu, M-Y

    2014-08-01

    Osteoporosis is a systemic skeletal disease, which is more prevalent in postmenopausal women. Osteoporosis likely develops beginning with genetic risk. This study explored the relationships between polymorphisms of HLA-B gene and postmenopausal osteoporosis in a Chinese Han population. Polymerase chain reaction sequence-based typing (PCR-SBT) method was used for DNA typing at HLA-B locus in 70 patients with postmenopausal osteoporosis and 73 healthy controls in female Han population of Shaanxi Province, situated in north-western China. We found that 40 HLA-B alleles in postmenopausal osteoporosis patients and control subjects, respectively. Furthermore, the frequency of HLA-B* 3501 allele was significantly higher in postmenopausal osteoporosis patients than in the control group (P = 0.033), and the relative risk was 7.632 (95% CI: 0.927-62.850). Our results suggest that HLA-B* 3501 was likely an important risk factor for postmenopausal osteoporosis. As different populations have different HLA polymorphisms, further investigation of the relationship of various HLA genes and osteoporosis with larger sample size is still necessary in the future.

  3. HLA-A gene polymorphisms contribute to osteoporosis susceptibility in postmenopausal Han Chinese women.

    PubMed

    Li, S M; Guo, H; Yang, H J; Lv, M Q; Zhou, D X

    2015-08-28

    Osteoporosis is a common disease characterized by low bone mineral density, deterioration in bone microarchitecture, and increased fracture risk and is more prevalent in postmenopausal women. HLA is a complex gene family; previous studies have shown that it plays an important role in the pathogenesis of osteoporosis among Japanese and Greek populations. Prompted by these findings, this study was designed to explore the associations between HLA-A gene polymorphisms and postmenopausal osteoporosis in the Han Chinese population. The polymerase chain reaction-sequence-based typing method was used for DNA genotyping at the HLA-A locus in 70 patients with postmenopausal osteoporosis and 73 healthy controls. We identified 17 HLA-A alleles in patients with postmenopausal osteoporosis and 20 HLA-A alleles in control subjects. Furthermore, we found that the frequency of the HLA-A* 02:07 allele was significantly higher in patients with postmenopausal osteoporosis than in control subjects (P = 0.023), and the relative risk was 4.065 (95% confidence interval = 1.109-14.893). Our study provides supportive evidence for the contribution of HLA-A gene polymorphisms to the susceptibility to postmenopausal osteoporosis and suggests that HLA-A* 02:07 is likely an important genetic risk factor for postmenopausal osteoporosis in the Han Chinese population.

  4. Association between RTEL1 gene polymorphisms and COPD susceptibility in a Chinese Han population

    PubMed Central

    Ding, Yipeng; Xu, Heping; Yao, Jinjian; Xu, Dongchuan; He, Ping; Yi, Shengyang; Li, Quanni; Liu, Yuanshui; Wu, Cibing; Tian, Zhongjie

    2017-01-01

    Objective We investigated the association between single-nucleotide polymorphisms in regulation of telomere elongation helicase 1 (RTEL1), which has been associated with telomere length in several brain cancers and age-related diseases, and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese Han population. Methods In a case–control study that included 279 COPD cases and 290 healthy controls, five single-nucleotide polymorphisms in RTEL1 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender. Results In the genotype model analysis, we determined that rs4809324 polymorphism had a decreased effect on the risk of COPD (CC versus TT: OR =0.28; 95% CI =0.10–0.82; P=0.02). In the genetic model analysis, we found that the “C/C” genotype of rs4809324 was associated with a decreased risk of COPD based on the codominant model (OR =0.33; 95% CI =0.13–0.86; P=0.022) and recessive model (OR =0.32; 95% CI =0.12–0.80; P=0.009). Conclusion Our data shed new light on the association between genetic polymorphisms of RTEL1 and COPD susceptibility in the Chinese Han population. PMID:28360516

  5. Genetic polymorphism and evolutionary differentiation of Eastern Chinese Han: a comprehensive and comparative analysis on KIRs.

    PubMed

    Yin, Caiyong; Hu, Li; Huang, Huijie; Yu, Yanfang; Li, Zheng; Ji, Qiang; Kong, Xiaochao; Wang, Zhongqun; Yan, Jinchuan; Yan, Jiangwei; Zhu, Bofeng; Chen, Feng

    2017-02-16

    Killer cell immunoglobulin-like receptor genes, namely KIRs, cluster together within the 160 kb genomic DNA region. In this study, we used PCR-SSP approach and successfully identified the genotype of 17 KIR genes in 123 independent healthy donors residing in the Jiangsu province, China. All individuals were positive at the 7 genes. The observed carrier gene frequencies (OFs) of remaining 10 KIRs ranged from 14.63% (KIR2DS3) to 95.93% (KIR3DL1). We found 27 distinct genotypes excluding KIR1D. The most frequent occurred in 63 individuals (51.22%). The linkage disequilibrium analysis signified 29 positive and 6 negative relations in 45 pairwise comparisons. To study population differentiation, we drew a Heatmap based on the data of KIRs from 59 populations and conducted Hierarchical Clustering by Euclidean distances. We next validated our results by estimating pairwise DA distances and illustrating a Neighbor-Joining tree, as well as a MDS plot covering 3 additional Chinese Han groups. The phylogenetic reconstruction and cluster analysis strongly indicated a genetically close relationship between Eastern and Jilin Hans. In conclusion, the present study provided a meritorious resource of KIR genotyping for population genetics, and could be helpful to uncover the genetic mechanism of KIRs in immune disease in the future.

  6. BFH-OST, a new predictive screening tool for identifying osteoporosis in postmenopausal Han Chinese women

    PubMed Central

    Ma, Zhao; Yang, Yong; Lin, JiSheng; Zhang, XiaoDong; Meng, Qian; Wang, BingQiang; Fei, Qi

    2016-01-01

    Purpose To develop a simple new clinical screening tool to identify primary osteoporosis by dual-energy X-ray absorptiometry (DXA) in postmenopausal women and to compare its validity with the Osteoporosis Self-Assessment Tool for Asians (OSTA) in a Han Chinese population. Methods A cross-sectional study was conducted, enrolling 1,721 community-dwelling postmenopausal Han Chinese women. All the subjects completed a structured questionnaire and had their bone mineral density measured using DXA. Using logistic regression analysis, we assessed the ability of numerous potential risk factors examined in the questionnaire to identify women with osteoporosis. Based on this analysis, we build a new predictive model, the Beijing Friendship Hospital Osteoporosis Self-Assessment Tool (BFH-OST). Receiver operating characteristic curves were generated to compare the validity of the new model and OSTA in identifying postmenopausal women at increased risk of primary osteoporosis as defined according to the World Health Organization criteria. Results At screening, it was found that of the 1,721 subjects with DXA, 22.66% had osteoporosis and a further 47.36% had osteopenia. Of the items screened in the questionnaire, it was found that age, weight, height, body mass index, personal history of fracture after the age of 45 years, history of fragility fracture in either parent, current smoking, and consumption of three of more alcoholic drinks per day were all predictive of osteoporosis. However, age at menarche and menopause, years since menopause, and number of pregnancies and live births were irrelevant in this study. The logistic regression analysis and item reduction yielded a final tool (BFH-OST) based on age, body weight, height, and history of fracture after the age of 45 years. The BFH-OST index (cutoff =9.1), which performed better than OSTA, had a sensitivity of 73.6% and a specificity of 72.7% for identifying osteoporosis, with an area under the receiver operating

  7. FMR1 Premutation Is an Uncommon Explanation for Premature Ovarian Failure in Han Chinese

    PubMed Central

    Guo, Ting; Qin, Yingying; Jiao, Xue; Li, Guangyu; Simpson, Joe Leigh; Chen, Zi-Jiang

    2014-01-01

    Background In premature ovarian failure (POF), cessation of menstruation occurs before the expected age of menopause. Approximately 1% of women are affected. FMR1 premutation was reported to be responsible for up to 3.3%–6.7% of sporadic POF and 13% of familial cases in Caucasians, while the data was absent in Chinese population. Therefore, the impact of FMR1 CGG repeat on ovarian reserve is needed to be investigated in large Chinese cohort. Methods The number of FMR1 CGG repeat was determined in 379 Han Chinese women with well-defined 46, XX non-syndromic sporadic POF and 402 controls. The age of menopause onset in respect to CGG repeats was further analyzed. Results The frequency of FMR1 premutation in Han Chinese POF was only 0.5% (2/379), although it was higher than that in matched controls (0%, 0/402), it was much lower than that reported in Caucasian with POF (3.3%–6.7%). The prevalence of intermediate FMR1 (41–54) was not increased significantly in sporadic POF than that in controls (2.9% vs. 1.7%, P = 0.343). However, POF patients more often carried a single additional CGG repeat in a single allele than did fertile women (allele-1: 29.7 vs. 28.8, P<0.001; allele-2: 32.6 vs. 31.5, P<0.001). POF patients with both alleles of CGG repeats outside (below or above) the normal range (26–34) showed an earlier age of cessation of menses than those with two alleles within normal range (hom-high/high vs. norm: 20.4±4.8 vs. 24.7±6.4, p<0.01; hom-low/high vs. norm: 18.7±1.7 vs. 24.7±6.4, p<0.01). Conclusions FMR1 premutation seems to be an uncommon explanation for POF in Han Chinese. However, having both alleles with CGG repeats outside the normal range might still adversely affect ovarian aging. PMID:25050920

  8. ITIH family genes confer risk to schizophrenia and major depressive disorder in the Han Chinese population.

    PubMed

    He, Kuanjun; Wang, Qingzhong; Chen, Jianhua; Li, Tao; Li, Zhiqiang; Li, Wenjin; Wen, Zujia; Qiang, Yu; Wang, Meng; Shen, Jiawei; Song, Zhijian; Ji, Jue; Feng, Guoyin; Qi, Shuguang; Lin, He; Shi, Yongyong; Cheng, Zaohuo

    2014-06-03

    As a major extracellular matrix component, ITIHs played an important role in inflammation and carcinogenesis. Several genome-wide association studies have reported that some positive signals which were derived from the tight linkage disequilibrium region on chromosome 3p21 were associated with both schizophrenia and bipolar disorders in the Caucasian population. To further investigate whether this genomic region is also a susceptibility locus of schizophrenia and major depressive disorder in the Han Chinese population, we conducted this study by recruiting 1235 schizophrenia patients, 1045 major depressive disorder patients and 1235 healthy control subjects in the Han Chinese samples for a case-control study. We genotyped seven SNPs within this region using TaqMan® technology. We found that rs2710322 was significantly associated with schizophrenia (adjusted P(allele) = 0.0018, adjusted P(genotype) = 0.006, OR [95% CI] = 1.278 [1.117-1.462]) while rs1042779 was weakly associated with schizophrenia (adjusted P(allele) = 0.048, OR [95% CI] = 1.164 [1.040-1.303]) and major depressive disorder (adjusted P(allele) = 0.042, OR [95% CI] = 1.178 [1.047-1.326]); it was also our finding that rs3821831 was positively associated with major depressive disorder (adjusted P(allele) = 0.003, adjusted P(genotype) = 0.006, OR [95% CI] = 1.426 [1.156-1.760]). Furthermore, no haplotype was found to be associated with schizophrenia and major depressive disorder. Via the association analysis which combines the schizophrenia and major depressive disorder cases, we also notice that rs1042779 and rs3821831 were significantly associated with combined cases (rs1042779: adjusted P(allele) = 0.012, adjusted P(genotype) = 0.018, OR [95% CI] = 1.171 [1.060-1.292]; rs3821831:adjusted P(genotype) = 0.012, OR [95% CI] = 1.193 [1.010-1.410]). Our results revealed that the shared genetic risk factors of both schizophrenia and major depressive disorder exist in ITIH family genes in the Han Chinese

  9. [Genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population].

    PubMed

    Chen, Zhen-Bin; Zhu, Jin-Ling; Yan, Mei; Liang, Yan; Zhou, Yan; Tan, Shu-Zhen; Xiao, Bai; Liu, Jing-Zhong

    2004-07-01

    To elucidate the genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population and construct a preliminary database, EDTA-blood specimens were collected from unrelated individuals in Beijing. The DNAs were extracted with Chelex method and were amplified by PCR. The PCR products were analyzed by the PAG electrophoresis or by the approach of the automated fluorescent detection. The five STR loci consist of simple repeat motif and its distributions of genotypes are agreement with Hardy-Weinberg equation. Its polymorphism information content is all over 0.50. The obtained data can not only be used as evidences for genetic diagnosis of Down Syndrome, but also for calculating the probabilities in the paternity test and individual identification.

  10. Re-reading "Little Hans": Freud's case study and the question of competing paradigms in psychoanalysis.

    PubMed

    Midgley, Nicholas

    2006-01-01

    Psychoanalysts have long recognized the complex interaction between clinical data and formal psychoanalytic theories. While clinical data are often used to provide "evidence" for psychoanalytic paradigms, the theoretical model used by the analyst also structures what can and cannot be seen in the data. This delicate interaction between theory and clinical data can be seen in the history of interpretations of Freud's "Analysis of a Phobia in a Five-Year-Old Boy" ("Little Hans"). Freud's himself revised his reading of the case in 1926, after which a number of psychoanalysts--including Melanie Klein, Jacques Lacan, and John Bowlby--reinterpreted the case in the light of their particular models of the mind. These analysts each found "evidence" for their theoretical model within this classic case study, and in doing so they illuminated aspects of the case that had previously been obscured, while also revealing a great deal about the shifting preoccupations of psychoanalysis as a field.

  11. ToF-SIMS study of official seals from Han Dynasty

    NASA Astrophysics Data System (ADS)

    Yin, Yu-Sheng; Chen, Bo-Jung; Ling, Yong-Chien

    2008-12-01

    Chinese bronze is a copper alloy containing copper, zinc, tin, lead, and other elements. ToF-SIMS has been used in the study of cultural heritage to establish authenticity, dating, origin, and the degradation process. In this study, static and dynamic SIMS was used to gain information regarding the surface composition and the depth distribution of important elements for a bronze lion and an official seal claimed as the Han Dynasty artifact (206 BC-220 AD). The results revealed that anticorrosion properties of surface layers exhibited were due to the higher percentage of nickel, but the major elements in the bulk of the artifact were copper and zinc. Surface enrichment of Au accords with the ancient Liujin method of developing a gold coating on metal object. These unique results demonstrated that ToF-SIMS is a potential tool to reveal processing methods for the ancient official seal.

  12. Suicidal risk factors of recurrent major depression in Han Chinese women.

    PubMed

    Zhu, Yuzhang; Zhang, Hongni; Shi, Shenxun; Gao, Jingfang; Li, Youhui; Tao, Ming; Zhang, Kerang; Wang, Xumei; Gao, Chengge; Yang, Lijun; Li, Kan; Shi, Jianguo; Wang, Gang; Liu, Lanfen; Zhang, Jinbei; Du, Bo; Jiang, Guoqing; Shen, Jianhua; Zhang, Zhen; Liang, Wei; Sun, Jing; Hu, Jian; Liu, Tiebang; Wang, Xueyi; Miao, Guodong; Meng, Huaqing; Li, Yi; Hu, Chunmei; Li, Yi; Huang, Guoping; Li, Gongying; Ha, Baowei; Deng, Hong; Mei, Qiyi; Zhong, Hui; Gao, Shugui; Sang, Hong; Zhang, Yutang; Fang, Xiang; Yu, Fengyu; Yang, Donglin; Liu, Tieqiao; Chen, Yunchun; Hong, Xiaohong; Wu, Wenyuan; Chen, Guibing; Cai, Min; Song, Yan; Pan, Jiyang; Dong, Jicheng; Pan, Runde; Zhang, Wei; Shen, Zhenming; Liu, Zhengrong; Gu, Danhua; Wang, Xiaoping; Liu, Xiaojuan; Zhang, Qiwen; Li, Yihan; Chen, Yiping; Kendler, Kenneth Seedman; Flint, Jonathan; Liu, Ying

    2013-01-01

    The relationship between suicidality and major depression is complex. Socio- demography, clinical features, comorbidity, clinical symptoms, and stressful life events are important factors influencing suicide in major depression, but these are not well defined. Thus, the aim of the present study was to assess the associations between the above-mentioned factors and suicide ideation, suicide plan, and suicide attempt in 6008 Han Chinese women with recurrent major depression (MD). Patients with any suicidality had significantly more MD symptoms, a significantly greater number of stressful life events, a positive family history of MD, a greater number of episodes, a significant experience of melancholia, and earlier age of onset. Comorbidity with dysthymia, generalized anxiety disorder (GAD), social phobia, and animal phobia was seen in suicidal patients. The present findings indicate that specific factors act to increase the likelihood of suicide in MD. Our results may help improve the clinical assessment of suicide risk in depressed patients, especially for women.

  13. Integrating experimental and observational personality research--the contributions of Hans Eysenck.

    PubMed

    Revelle, William; Oehlberg, Katherine

    2008-12-01

    A fundamental aspect of Hans Eysenck's research was his emphasis upon using all the tools available to the researcher to study personality. This included correlational, experimental, physiological, and genetic approaches. Fifty years after Cronbach's call for the reunification of the two disciplines of psychology (Cronbach, 1957) and 40 years after Eysenck's plea for experimental approaches to personality research (H. J. Eysenck, 1966), what is the status of the unification? Should personality researchers use experimental techniques? Do experimental techniques allow us to tease out causality, and are we communicating the advantages of combining experimental with multivariate correlational techniques? We review the progress made since Cronbach's and Eysenck's original papers and suggest that although it is still uncommon to find experimental studies of personality, psychology would benefit from the joint use of correlational and experimental approaches.

  14. Medieval orthopaedic history in Germany: Hieronymus Brunschwig and Hans von Gersdorff.

    PubMed

    Hernigou, Philippe

    2015-10-01

    Hans von Gerssdorff and Hieronymus Brunschwig, who flourished in Germany in the latter half of the fifteenth century, have both left early printed treatises on Surgery which give excellent woodcuts showing pictures of instruments, operations, and costumes, at the end of the medieval period. Hieronymus Brunschwig or Hieronymus Brunschwygk (ca. 1450 - ca. 1512), was a German surgeon (wundartzot), alchemist and botanist. He was notable for his methods of treatment of gunshot wounds. His most influential book was the Buch der Cirurgia. Gersdorff(1455-1529) was a military surgeon who gained wide experience during 40 years of campaigning and was an expert in the treatment of battlefield injuries. His work covers anatomy, surgery, leprosy, and glossaries of anatomical terms, diseases, and medications.

  15. Julius Elster and Hans Geitel - Dioscuri of physics and pioneer investigators in atmospheric electricity

    NASA Astrophysics Data System (ADS)

    Fricke, Rudolf G. A.; Schlegel, Kristian

    2017-01-01

    Julius Elster and Hans Geitel contributed to the physics at the turn of the 19-20th century in many ways. We first summarize the life of these exceptional scientists. Then - owing to the topic of this journal - we focus on their atmospheric electricity research. With their experiments, careful evaluations and ingenious interpretation, Elster and Geitel made important contributions to precipitation electricity, the influence of solar radiation on the electric state of the atmosphere, the nature of charge carriers and the ionization of air by radioactivity. They proved their experimental skills by inventing new instruments with unprecedented accuracy and reliability. A very modern concept was their attitude to undertake long-term measurements at various locations. A section on their recognition in the physics community and their scientific distinctions concludes the paper.

  16. Uncertainty analysis of coupling multiple hydrologic models and multiple objective functions in Han River, China.

    PubMed

    Dong, Leihua; Xiong, Lihua; Zheng, Yanfeng

    2013-01-01

    Three different hydrological models are chosen to simulate rainfall-runoff relationships under each of three objective functions including mean squared errors of squared transformed flows, squared root transformed flows and logarithmic transformed flows; thus nine individual models are constructed. By weighted averaging over these nine models, the method of Bayesian model averaging (BMA) was used to provide both the mean value and the uncertainty intervals of flow prediction. Three kinds of uncertainty information can be generated: the uncertainty of individual member model's predictions; the total uncertainty of BMA mean prediction; the between-model and within-model uncertainties in the BMA scheme. Based on the estimated results in this study, the coupling of multiple models with multiple objective functions in general offers better results for both the mean prediction and the uncertainty intervals for the runoffs in a selected basin in Han River, China, than the individual models.

  17. Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

    PubMed Central

    He, Dan; Rong, Pengfei; Xu, Hongbo; Yuan, Lamei; Li, Liu; Lu, Qian; Guo, Yi

    2016-01-01

    Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder in the family but was not observed in 800 controls. The data indicate that exome sequencing is a powerful and effective molecular diagnostic tool for detecting mutations in osteopetrosis, which is a genetically and clinically heterogeneous disorder. This discovery broadens the CLCN7 gene mutation spectrum and has important implications for clinical therapeutic regimen decisions, prognosis evaluations, and antenatal diagnoses. PMID:27325559

  18. MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

    PubMed

    Shi, Chang-He; Wang, Hui; Mao, Cheng-Yuan; Yang, Jing; Song, Bo; Liu, Yu-Tao; Yang, Zhi-Hua; Luo, Hai-Yang; Zhang, Shu-Yu; Wu, Jun; Xu, Yu-Ming

    2016-06-01

    Recently, a variant p.R160W in the MC1R gene was identified that increased the risk of Parkinson's disease (PD) in Spanish population. To explore whether the MC1R gene variants are associated with sporadic PD in Chinese population, we performed a case-control comparison study for comprehensive MC1R variant screening in 510 Chinese Han patients and 495 healthy controls as ethnically matched controls. We identify 5 nonsynonymous variants, including rs34090186 (p.R67Q), rs2228479 (p.V92M), rs33932559 (p.I120T), rs885479 (p.R163Q), and rs372152373 (p.R223W). However, variants mentioned previously did not show association with PD. Our results suggest that variants in MC1R do not play a major role in PD in the Chinese population.

  19. [Hans Gross as an archaeologist--the significance of archaeology for 'encyclopedic' criminology].

    PubMed

    Karl, Stephan; Bachhiesl, Christian

    2014-01-01

    In some cases, forensics and criminology have to cooperate with disciplines that usually are counted among the humanities, e.g. with archaeology. This article examines the significance of this cooperation for the criminological epistemology at the turn of the 19th century. These methodological considerations are illustrated by an example: When Hans Gross, who became the founder of the Austrian School of Criminology later, saw an unusually shaped hill near Feldbach, a town in southern Styria, he assumed this hill to be a burial mound and informed the responsible archaeological authorities immediately. Further investigations showed, however, that this hill was a natural formation. This is an early example for interdisciplinary cooperation, which proves that both in archaeology and in criminology a thorough inspection of the site is decisive for further scientific analysis of the topic of research.

  20. [Textual research and differentiation of Dou Han-qing's works catalogue].

    PubMed

    Li, Bao-jin; Li, Tao-hua; Liu, Qing-guo

    2008-04-01

    This paper aims at probing into evolving course of DOU Han-qing's works catalogue. On the basis of summarizing and referring to study achievements of our predecessors, through analysis of book lists and relative works and chapters, it is hold that the catalogue which were not attained by ZHULiang-neng possibly are the contents of acupuncture reinforcing and reducing methods; the books printed and published by ZHULiang-neng include the contents of both channels and acupoints; the book, Zhinan, which was attained by DOUGui-fang, includes the content catalogue of needling methods; Fu Zhenjiu Zashuo in Zhenjiu Sisu. Zhenjiu Zhinan also were extracted by DOU Gui-fang from Illustrated Manual of Acupoints of the Bronze Figure, and The Zhenjiu Biji Taiyi Zhi Tuxu and Dongzhi Yezhe Gongshuo should belong to The Fu Zhenjiu Zashuo.

  1. Stature estimation from hand dimensions in a Han population of Southern China.

    PubMed

    Tang, Jianpin; Chen, Rui; Lai, Xiaoping

    2012-11-01

    To analyze the relationship between stature and hand dimensions for forensic applications, the stature and hand dimensions of 400 healthy adults aged between 20 and 25 years were measured in a Han population of Southern China. The mean values of the stature are 170.49 and 159.72 cm in the men and the women, respectively. The statistically significant differences between the right- and the left-hand dimensions were not observed in the men, whereas the bilateral differences are statistically significant in female hand dimensions. The correlation coefficients were found to be statistically significant for the hand dimensions in both the sexes. The hand length showed higher correlation coefficients than the hand breadth in both sexes. Linear and multiple regressions were developed in this study; multiple regressions showed higher correlation coefficients than linear regressions. Two regression models could be used to estimate the stature from the hand dimensions in this population.

  2. Population study and mutation analysis for 28 short tandem repeat loci in southwest Chinese Han population.

    PubMed

    Su, Qin; Jin, Bo; Luo, Haibo; Li, Yingbi; Wu, Jin; Yan, Jing; Hou, Yiping; Liang, Weibo; Zhang, Lin

    2016-11-01

    Short tandem repeat (STR) system is the most widely used genetic markers in modem forensic practice. Because of the relatively unstable molecular structure, STRs show a high mutation rate. In the current study, we report 169 mutation events of 13 CODIS and 15 non-CODIS STR loci that were found in 5569 cases of trios and duos paternity test. Our result indicated that locus-specific mutation rate varied among different populations, geometric means of the longest run of perfect repeats (LRPR) and heterozygosity. Along with previous published data, a forensic dataset for allele frequencies and locus-specific mutation rates of 13 CODIS and 15 non-CODIS STR loci from southwest Chinese Han population has been established. The mutation rate data have important implications in interpreting forensic individual identification and paternity testing.

  3. Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with ischemic stroke in the Eastern Chinese Han population.

    PubMed

    Lv, Q-Q; Lu, J; Sun, H; Zhang, J-S

    2015-04-27

    The association between the MTHFR genetic polymorphism and ischemic stroke has been reported by a number of investigators. However, the results have been controversial and conflicting. The aim of this study was to explore the association between the MTHFR variants C677T and A1298C and the risk of ischemic stroke in an Eastern Chinese Han population. A total of 199 patients with ischemic stroke and 241 controls were recruited. Genotyping of the MTHFR C677T and A1298C polymorphisms was carried out using the Taqman 7900HT Sequence Detection System. The overall estimates (odds ratio: OR) for the allele (C) and genotype (AC+CC) of the A1298C polymorphism were 1.57 [95% confidence interval (CI) = 1.16-2.10], and 2.36 (95%CI = 1.39-4.00), respectively, establishing significant association of the MTHFR A1298C polymorphism with ischemic stroke. In contrast, there were no statistically significant differences compared to controls between MTHFR C677T polymorphic variants in the association ischemic stroke risk. Furthermore, haplotype-based analysis demonstrated that compared with the C-677-A-1298 haplotype, the C-677-C-1298 and T-677-C-1298 haplotypes showed significant increased risk of ischemic stroke (OR = 1.56; 95%CI = 1.07- 2.2; P = 0.02; OR = 1.76; 95%CI = 1.17-2.65; P < 0.01, respectively). We concluded that the A1298C polymorphism and the haplotypes C-677-C-1298 and T-677-C-1298 in MTHFR might modulate the risk of ischemic stroke in the Eastern Chinese Han population.

  4. LMNA gene single nucleotide polymorphisms in dilated cardiomyopathy of Han children

    PubMed Central

    Xie, Li-Jian; Xiao, Ting-Ting; Huang, Min; Shen, Jie

    2015-01-01

    Objective: To investigate whether LMNA gene mutation is associated with dilated cardiomyopathy (DCM) in Chinese Han Race children. Methods: DNA was isolated from 78 patients with DCM and 100 healthy Chinese children who served as controls. 12 exons in the functional regions and the adjacent part of introns of the LMNA gene were amplified with polymerase chain reactions (PCR) and the PCR products were sequenced with DNA sequencer. We compared the DNA sequence with Blast software online PubMed website. The differences of allele and genotype between the groups were detected by χ2 test. Results: No disease-causing mutation in LMNA gene was found in all DCM patients. Three nonsense single nucleotide polymorphisms (SNPs) were identified. ① The first is c.1908C>T (H566H, rs4641) which was located at exon 10 of LMNA gene. It was found in 29 DCM cases and 15 control subjects. Compared to healthy controls, the frequency of TT and TC genotypes, and the C allele were significantly increased in DCM patients (P<0.05). ② The second was c.861C>T (A287A, rs5380) which was located at exon 5 of LMNA gene. It was found in 9 DCM cases and 2 control subjects. The frequency of TC genotype was significantly increased in DCM patients (P<0.05). ③ The third was c.1338C>T (D446D, rs5058) which located at exon 7 of LMNA gene. It was found in 8 DCM cases and 3 control subjects. The frequency of TC genotype was significantly increased in DCM patients (P<0.05). Conclusion: The SNP of LMNA gene may be associated with the susceptivity of DCM in Chinese Han children. PMID:26379929

  5. Risk factors related to persistent airflow obstruction in severe asthma in Chinese Han population

    PubMed Central

    Zhang, Lanlan; Yang, Wenjuan; Zhou, Qiao; Wang, Gang; Liu, Chuntao

    2014-01-01

    Objective: To explore the significance of assessing persistent airway obstruction (PAO) in asthma patients by airway wall remodeling with bronchoscopy, high-resolution computed tomography (HRCT), and biological markers in the induced sputum and serum, exhaled nitric oxide (FENO), and lung function. Methods: The study was conducted in 119 patients with PAO and 125 patients with reversible airway obstruction (RAO). Endobronchial biopsy specimens were analyzed for airway smooth muscle (ASM) area, and reticular basement membrane (RBM) thickness. Airway thickness was also measured by HRCT scanning. Levels of matrix metalloproteases-9 (MMP-9), metalloproteinase 33 (ADAM33), and vascular endothelial growth factor (VEGF) were measured in the induced sputum and serum by enzyme linked immunosorbent assay. Result: PAO was associated with longer disease duration, absence of atopy and rhinitis, and larger ASM area (SMA%) (15.83%±2.32% [n=9] vs. 8.0%±1.68% [n=7], P=0.02), thicker RBM (16.27±2.32 μm [n=9] vs. 8.71±2.41 μm [n=7], P=0.042); No differences in any of the biomarker molecules measured in airway thickness in HRCT, sputum and blood individually between groups were found. Conclusion: Severe asthma patients with longer disease duration and the absence of atopy and rhinitis are more likely to develop PAO in Chines Han population. PAO patients have increased ASM area and RBM thickness appear to be valuable in the evaluation of airway remodeling in asthma patients in Chinese Han population. PMID:25664049

  6. Glycan Biomarkers for Rheumatoid Arthritis and Its Remission Status in Han Chinese Patients.

    PubMed

    Sebastian, Andrea; Alzain, Mohamed Ali; Asweto, Collins Otieno; Song, Haicheng; Cui, Liufu; Yu, Xinwei; Ge, Siqi; Dong, Hao; Rao, Ping; Wang, Hao; Fang, Honghong; Gao, Qing; Zhang, Jie; He, Dian; Guo, Xiuhua; Song, Manshu; Wang, Youxin; Wang, Wei

    2016-06-01

    Rheumatoid arthritis (RA), a systemic, chronic, and progressive inflammatory autoimmune disease, affects up to 1.0% of the world population doubling mortality rate of patients and is a major global health burden. Worrisomely, we lack robust diagnostics of RA and its remission status. Research with the next-generation biomarker technology platforms such as glycomics offers new promises in this context. We report here a clinical case-control study comprising 128 patients suffering from chronic RA (80.22% in remission, 19.78% active clinically) and 195 gender- and age-matched controls, with a view to the putative glycan biomarkers of RA as well as its activity or remission status in Han Chinese RA patients. Hydrophilic interaction liquid chromatography-ultra-performance liquid chromatography (HILIC-UPLC) was used for the analysis of IgG glycans. The regression model identified the glycans that predict RA status, while a receiver operating characteristic (ROC) curve analysis validated the sensitivity and prediction power. Among the total 24 glycan peaks (GP1-GP24), ROC analysis showed only GP1 prediction to be highly sensitive with an area under the curve (AUC) = 0.881. Even though GP21 and GP22 could predict active status among the RA cases (p < 0.05), they had lower sensitivity of prediction with an AUC = 0.658. Taken together, these observations suggest that GP1 might have potential as a putative biomarker for RA in the Han Chinese population, while the change in IgG glycosylation shows association with the RA active and remission states. To the best of our knowledge, this is the first glycomics study with respect to disease activity and remission states in RA.

  7. ERBB4 Confers Risk for Polycystic Ovary Syndrome in Han Chinese

    PubMed Central

    Peng, Yingqian; Zhang, Wei; Yang, Ping; Tian, Ye; Su, Shizhen; Zhang, Changming; Chen, Zi-Jiang; Zhao, Han

    2017-01-01

    A recent genome-wide association study (GWAS) of polycystic ovary syndrome (PCOS) in European cohorts has identified six susceptibility loci mapping to 11q22.1 (YAP1), 2p21 (THADA), 11p14.1 (FSHB), 2q34 (ERBB4), 12q21.2 (KRR1), and 5q31.1 (RAD50). The loci of 11q22.1, 2p21 and 11p14.1 have been confirmed to be associated with PCOS in Chinese; whereas the other three new loci (2q34, 12q21.2, and 5q31.1) still need to be evaluated in Chinese. This study was aimed to determine if the three new loci identified in European PCOS also confer risks for PCOS in Han Chinese. We performed a case-control genetic association study comprising 1500 PCOS cases and 1220 age-matched control subjects. Marker SNPs rs1351592 (2q34, ERBB4), rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50) were genotyped using TaqMan-MGB probe assay. Genotyping analysis showed the allele frequency of rs1351592 in gene ERBB4 was significantly different (P = 1.05E-03) between PCOS cases and control group, and remained significant even after BMI adjustment (Padjusted = 2.09E-04). However, the allele frequencies of the other two risk variants, rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50), were not significantly different in the replication cohort. Our results demonstrate that ERBB4, with the strongest association in European PCOS, also confers risk for PCOS in Han Chinese. PMID:28195137

  8. CHRNA3 genetic polymorphism and the risk of lung cancer in the Chinese Han smoking population.

    PubMed

    Zhou, Wenjing; Geng, Tingting; Wang, Huijuan; Xun, Xiaojie; Feng, Tian; Zou, Hui; Kang, Longli; Jin, Tianbo; Chen, Chao

    2015-07-01

    Lung cancer is the leading cause of cancer-related deaths worldwide that result from the combined effected of smoking exposure and genetic susceptibility. CHRNA3, a nicotinic acetylcholine receptor gene, was associated with lung cancer risk. The aim of this study was to identify whether CHRNA3 polymorphisms increase lung cancer risk directly or indirectly through smoking behavior in the Chinese Han individuals. We conducted a case-control study including 228 individuals with lung cancer and 301 healthy individuals. Seventeen known SNPs within CHRNA3 were selected for genotyping. Odds ratios (OR) and 95 % confidence interval (CI) were calculated by unconditional logistic regression with adjustment for gender and age. Two SNPs (rs8042059 and rs7177514) showed a 1.54-fold (p = 0.036; 95 % CI = 1.03-2.32) and 1.52-fold (p = 0.043; 95 % CI = 1.01-2.27) increased risk for lung cancer in smokers, respectively. Rs8042059 also showed a significant association for variant genotypes (CA/AA) compared with the wild-type genotype (CC), with an OR = 1.84 (p = 0.042; 95 % CI, 1.02-3.33) in the dominant model. In addition, the haplotype analysis found that the haplotypes "TCAC" and "CTGT," composed of rs938682, rs12914385, rs11637630, and rs2869546, were associated with a 1.79-fold and 501-fold increased lung cancer risk, respectively. However, the polymorphisms of all SNPs were not significantly different between controls and cases among general or nonsmokers population. Rs8042059 and rs7177514 may increase lung cancer risk indirectly through smoking behavior in the Chinese Han population.

  9. ERBB4 Confers Risk for Polycystic Ovary Syndrome in Han Chinese.

    PubMed

    Peng, Yingqian; Zhang, Wei; Yang, Ping; Tian, Ye; Su, Shizhen; Zhang, Changming; Chen, Zi-Jiang; Zhao, Han

    2017-02-14

    A recent genome-wide association study (GWAS) of polycystic ovary syndrome (PCOS) in European cohorts has identified six susceptibility loci mapping to 11q22.1 (YAP1), 2p21 (THADA), 11p14.1 (FSHB), 2q34 (ERBB4), 12q21.2 (KRR1), and 5q31.1 (RAD50). The loci of 11q22.1, 2p21 and 11p14.1 have been confirmed to be associated with PCOS in Chinese; whereas the other three new loci (2q34, 12q21.2, and 5q31.1) still need to be evaluated in Chinese. This study was aimed to determine if the three new loci identified in European PCOS also confer risks for PCOS in Han Chinese. We performed a case-control genetic association study comprising 1500 PCOS cases and 1220 age-matched control subjects. Marker SNPs rs1351592 (2q34, ERBB4), rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50) were genotyped using TaqMan-MGB probe assay. Genotyping analysis showed the allele frequency of rs1351592 in gene ERBB4 was significantly different (P = 1.05E-03) between PCOS cases and control group, and remained significant even after BMI adjustment (Padjusted = 2.09E-04). However, the allele frequencies of the other two risk variants, rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50), were not significantly different in the replication cohort. Our results demonstrate that ERBB4, with the strongest association in European PCOS, also confers risk for PCOS in Han Chinese.

  10. KCNQ1 gene polymorphisms are associated with lipid parameters in a Chinese Han population

    PubMed Central

    2010-01-01

    Background Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ1 are reported to be associated with type 2 diabetes mellitus (T2DM), possibly caused by a reduction in insulin secretion and higher fasting glucose, but the results are inconsistent. We investigated whether these 4 genetic markers are associated with serum lipid metabolism in a middle-aged Chinese Han population. Methods We enrolled 398 consecutive patients, including 180 with premature coronary artery disease (CAD) (male < 55 years, female < 65 years) and 218 controls without documented CAD. All subjects were genotyped for 4 SNPs by using the ligase detection reaction method. Fasting blood sugar (FBS) and plasma concentrations of total cholesterol, triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein A1(apo A1), and apolipoprotein B (apo B) were determined by standard biochemical methods. Main anthropometric and metabolic characteristics are analyzed among 3 genotypes at rs2283228, rs2237895, rs2237897, or rs2237892 in KCNQ1. Results The 3 genotypes AA, AC, and CC were present in rs2283228 and rs2237895, and the 3 genotypes CC, CT, and TT were present in rs2237897 and rs2237892. The minor genotypes CC at rs2283228 and TT at rs2237892 were associated with higher levels of TG (P = 0.007 and 0.026, respectively). Furthermore, subjects with the CC genotype at rs2283228 had lower levels of HDL-C and apo A1 than in the other 2 genotype groups (P = 0.052 and 0.055, respectively). No other associations were detected between these 4 SNPs and FBS or other lipid parameters. Conclusions Our data suggest that rs2283228 and rs2237892 in KCNQ1 are associated with lipid metabolism in a middle-aged Chinese Han population. PMID:20701788

  11. KALRN Rare and Common Variants and Susceptibility to Ischemic Stroke in Chinese Han Population.

    PubMed

    Dang, Meizheng; Wang, Zhenzhen; Zhang, Ruyou; Li, Xiaoying; Peng, Yanqing; Han, Xuesong; Sun, Litao; Tian, Jiawei

    2015-09-01

    Stroke is the second most common cause of mortality worldwide, and it is a major cause of physical disability. Several genome-wide association studies have yielded numerous common variants which increase the risk of ischemic stroke, including the Kalirin-coding gene, KALRN. KALRN strongly associates with early-onset coronary artery disease and atherosclerosis and plays an important role in stroke in the European population. In this study, we analyzed four KALRN gene SNPs in 503 ischemic stroke patients and 493 control subjects, separating the patients into separate research groups based on comorbidity with hypertension or diabetes and stroke type (atherosis or lacunar and combination type). We found a rare variant of KALRN, rs11712619, that associated with lacunar stroke in the northern Chinese Han population with an average-risk allele frequency 0.009 (OR 2.95, 95 % CI 1.08-8.01, p = 0.028). However, after adjusting for relevant factors, including sex, age, body mass index, dyslipidemia, alcohol consumption, and smoking, this association was not evident. Additionally, the KALRN variant rs6438833 was associated with ischemic stroke, ischemic stroke comorbid with diabetes, and lacunar stroke after adjusting for the relevant factors (p = 0.046, p = 0.019 and p = 0.046, respectively), which remained significant after 10,000 permutation procedure test (p' = 0.047, p' = 0.018 and p' = 0.048, respectively). The association of these rare and common variants of KALRN with ischemic stroke in northern Chinese Han population offers insight for potential therapeutic research.

  12. The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.

    PubMed

    Zhang, A-Mei; Bi, Rui; Hu, Qiu-Xiang; Fan, Yu; Zhang, Qingjiong; Yao, Yong-Gang

    2017-04-01

    While many patients with hereditary optic neuropathies are caused by mitochondrial DNA (mtDNA) mutations of Leber's hereditary optic neuropathy (LHON), a significant proportion of them does not have mtDNA mutation and is caused by mutations in genes of the nuclear genome. In this study, we investigated whether the OPA1 gene, which is a pathogenic gene for autosomal dominant optic atrophy (ADOA), is frequently mutated in these patients. We sequenced all 29 exons of the OPA1 gene in 105 Han Chinese patients with suspected LHON. mtDNA copy number was quantified in blood samples from patients with and without OPA1 mutation and compared to healthy controls. In silico program-affiliated prediction, evolutionary conservation analysis, and in vitro cellular assays were performed to show the potential pathogenicity of the mutations. We identified nine OPA1 mutations in eight patients; six of them are located in exons and three are located in splicing sites. Mutation c.1172T > G has not been reported before. When we combined our data with 193 reported Han Chinese patients with optic neuropathy and compared to the available data of 4327 East Asians by the Exome Aggregation Consortium (ExAC), we found a significant enrichment of potentially pathogenic OPA1 mutations in Chinese patients. Cellular assays for OPA1 mutants c.869G > A and c.2708_2711del showed abnormalities in OPA1 isoforms, mitochondrial morphology, and cellular reactive oxygen species (ROS) level. Our results indicated that screening OPA1 mutation is needed for clinical diagnosis of patients with suspected optic neuropathy.

  13. TITLE Disposition and kinetics of Tetrabromobisphenol A in female Wistar Han rats

    PubMed Central

    Knudsen, Gabriel A.; Sanders, J. Michael; Sadik, Abdella M.; Birnbaum, Linda S.

    2014-01-01

    Tetrabromobisphenol A (TBBPA) is the brominated flame retardant with the largest production volume worldwide. NTP 2-year bioassays found TBBPA dose-dependent increases in uterine tumors in female Wistar Han rats; evidence of reproductive tissues carcinogenicity was equivocal in male rats. To explain this apparent sex-dependence, the disposition and toxicokinetic profile of TBBPA were investigated using female Wistar Han rats, as no data were available for female rats. In these studies, the primary route of elimination following [14C]-TBBPA administration (25, 250 or 1,000 mg/kg) was in feces; recoveries in 72 h were 95.7±3.5%, 94.3±3.6% and 98.8±2.2%, respectively (urine: 0.2-2%; tissues: <0.1). TBBPA was conjugated to mono-glucuronide and —sulfate metabolites and eliminated in the bile. Plasma toxicokinetic parameters for a 250 mg/kg dose were estimated based on free TBBPA, as determined by UV/radiometric-HPLC analyses. Oral dosing by gavage (250 mg/kg) resulted in a rapid absorption of compound into the systemic circulation with an observed Cmax at 1.5 h post-dose followed by a prolonged terminal phase. TBBPA concentrations in plasma decreased rapidly after an IV dose (25 mg/kg) followed by a long elimination phase. These results indicate low systemic bioavailability (F<0.05), similar to previous reports using male rats. Elimination pathways appeared to become saturated leading to delayed excretion after a single oral administration of the highest dose (1,000 mg/kg); no such saturation or delay was detected at lower doses. Chronic high exposures to TBBPA may result in competition for metabolism with endogenous substrates in extrahepatic tissues (e.g., SULT1E1 estrogen sulfation) resulting in endocrine disruption. PMID:24977115

  14. CYP7A1 genotypes and haplotypes associated with hypertension in an obese Han Chinese population.

    PubMed

    Fu, Lingyu; Zhao, Yanyan; Wu, Xiaomei; Liu, Hong; Shi, Jingpu; Lu, Jingyu; Zhou, Bo

    2011-06-01

    This study investigated the association between single-nucleotide polymorphisms (SNPs; rs3808607 and rs1125226) within the CYP7A1 promoter and hypertension susceptibility in a Han Chinese population. From 2003 through 2006, a population-based case-control study was performed in a cohort of 1187 randomly selected Han Chinese subjects. A sib-pair study for a transmission disequilibrium test analysis was carried out in 76 hypertensive (HT) families (n=312) from northeastern Liaoning province. SNPs were detected using real-time PCR. No significant differences were found in the genotype or allele frequencies of either SNP (P>0.05), with no excessive allele sharing. For rs3808607, the frequency of the AA genotype in obese hypertensive patients was 31.91%, significantly higher than in normotensive (NT) subjects (12.73%; odds ratio (OR)=3.21, 95% confidence interval (CI)=1.35-7.66). For rs3808607, the AA genotype frequency was significantly higher in obese male HT subjects (27.87%) than in matched NTs (7.41%; OR=4.83, 95% CI=1.03-22.65). After adjustment for environmental risk factors in obese participants, the AA genotype was associated with hypertension (OR=3.395, 95% CI=1.412-8.162). Among subjects with body mass index 28 kg m(-2), the HT and NT groups had significantly different frequencies of Hap I (C/C) and Hap IV (A/A). The frequencies of rs3808607 alleles in the CYP7A1 gene differed significantly between obese HT and NT men. Haplotypes I and IV were associated with hypertension in obese participants.

  15. Sexual dimorphism of the mandible in a contemporary Chinese Han population.

    PubMed

    Dong, Hongmei; Deng, Mohong; Wang, WenPeng; Zhang, Ji; Mu, Jiao; Zhu, Guanghui

    2015-10-01

    A present limitation of forensic anthropology practice in China is the lack of population-specific criteria on contemporary human skeletons. In this study, a sample of 203 maxillofacial Cone beam computed tomography (CBCT) images, including 96 male and 107 female cases (20-65 years old), was analyzed to explore mandible sexual dimorphism in a population of contemporary adult Han Chinese to investigate the potential use of the mandible as sex indicator. A three-dimensional image from mandible CBCT scans was reconstructed using the SimPlant Pro 11.40 software. Nine linear and two angular parameters were measured. Discriminant function analysis (DFA) and logistic regression analysis (LRA) were used to develop the mathematics models for sex determination. All of the linear measurements studied and one angular measurement were found to be sexually dimorphic, with the maximum mandibular length and bi-condylar breadth being the most dimorphic by univariate DFA and LRA respectively. The cross-validated sex allocation accuracies on multivariate were ranged from 84.2% (direct DFA), 83.5% (direct LRA), 83.3% (stepwise DFA) to 80.5% (stepwise LRA). In general, multivariate DFA yielded a higher accuracy and LRA obtained a lower sex bias, and therefore both DFA and LRA had their own advantages for sex determination by the mandible in this sample. These results suggest that the mandible expresses sexual dimorphism in the contemporary adult Han Chinese population, indicating an excellent sexual discriminatory ability. Cone beam computed tomography scanning can be used as alternative source for contemporary osteometric techniques.

  16. Osteoprotegerin Gene (OPG) Polymorphisms Associated with Peri-Implantitis Susceptibility in a Chinese Han Population

    PubMed Central

    Zhou, Jian; Zhao, Yimin

    2016-01-01

    Background The aim of this study was to investigate the association between T950C (rs2073617) and G1181C (rs2073618) polymorphisms of the osteoprotegerin gene (OPG) and the susceptibility of peri-implantitis in the Chinese Han population. Material/Methods 110 patients with peri-implantitis and 116 healthy persons from the Chinese Han population were included in this study using a case-control design; rs2073617 and rs2073618 in OPG were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The linkage disequilibrium (LD) and haplotype analysis were performed with Haploview software. Hardy-Weinberg equilibrium (HWE) was assessed in the control group based on the genotype distributions of OPG polymorphisms. The genotype, allele, and haplotype distribution differences between the case and control groups were analyzed by chi-square test, and the relative risk of PD was expressed by odds ratio (OR) and 95% confidence interval (CI). Results The study results showed that people carrying the CC genotype of rs2073618 were more likely to have peri-implantitis than GG genotype carriers (OR=2.18, 95% CI=1.03–4.62, p=0.04). In addition, patients with the C allele had 1.47 times the risk of suffering from peri-implantitis (OR=1.47, 95% CI=1.01–2.13, p=0.04), but not rs2073617 polymorphism. The G-C haplotype frequency of rs2073618-rs2073617 in OPG was significantly correlated to the increased susceptibility of peri-implantitis (OR=2.27, 95% CI=1.20–4.30). Conclusions OPG rs2073618 polymorphism may be related to the risk of peri-implantitis, but not rs2073617. Moreover, haplotype is also a non-ignorable risk factor. PMID:27828936

  17. Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population

    PubMed Central

    Kuo, Po-Hsiu; Chuang, Li-Chung; Su, Mei-Hsin; Chen, Chia-Hsiang; Chen, Chien-Hsiun; Wu, Jer-Yuarn; Yen, Chung-Jen; Wu, Yu-Yu; Liu, Shih-Kai; Chou, Miao-Chun; Chou, Wen-Jiun; Chiu, Yen-Nan; Tsai, Wen-Che; Gau, Susan Shur-Fen

    2015-01-01

    Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic components. Several recent genome-wide association (GWA) studies in Caucasian samples have reported a number of gene regions and loci correlated with the risk of ASD—albeit with very little consensus across studies. Methods A two-stage GWA study was employed to identify common genetic variants for ASD in the Taiwanese Han population. The discovery stage included 315 patients with ASD and 1,115 healthy controls, using the Affymetrix SNP array 6.0 platform for genotyping. Several gene regions were then selected for fine-mapping and top markers were examined in extended samples. Single marker, haplotype, gene-based, and pathway analyses were conducted for associations. Results Seven SNPs had p-values ranging from 3.4~9.9*10−6, but none reached the genome-wide significant level. Five of them were mapped to three known genes (OR2M4, STYK1, and MNT) with significant empirical gene-based p-values in OR2M4 (p = 3.4*10−5) and MNT (p = 0.0008). Results of the fine-mapping study showed single-marker associations in the GLIS1 (rs12082358 and rs12080993) and NAALADL2 (rs3914502 and rs2222447) genes, and gene-based associations for the OR2M3-OR2T5 (olfactory receptor genes, p = 0.02), and GLIPR1/KRR1 gene regions (p = 0.015). Pathway analyses revealed important pathways for ASD, such as olfactory and G protein–coupled receptors signaling pathways. Conclusions We reported Taiwanese Han specific susceptibility genes and variants for ASD. However, further replication in other Asian populations is warranted to validate our findings. Investigation in the biological functions of our reported genetic variants might also allow for better understanding on the underlying pathogenesis of autism. PMID:26398136

  18. Genetic Analysis of IL-17 Gene Polymorphisms in Gout in a Male Chinese Han Population

    PubMed Central

    Li, Hua; Guo, Mingzhen; Liu, Shiguo; Li, Changgui

    2016-01-01

    Interleukin (IL)-17 is a proinflammatory cytokine mainly secreted by activated T helper 17 cells and involved in inflammatory immune responses. This study aimed to investigate the association between IL-17 variants as well as serum IL-17 levels with gout in male Chinese Han individuals. A total of 1,101 male gout patients and 1,239 ethic-matched controls were enrolled. Genetic distributions of three variants (rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA) were detected by real-time polymerase chain reaction using the Taqman probe method. The plasma concentrations of IL-17A and IL-17F were measured in 228 gout patients and 198 controls that came from above samples by an enzyme-linked immunosorbent assay. No significant differences were observed in the genetic distribution of these polymorphisms between cases and controls (rs2275913: χ2 = 0.15, p = 0.928 by genotype, χ2 = 0.14, p = 0.711 by allele; rs763780: χ2 = 2.24, p = 0.326 by genotype, χ2 = 0.26, p = 0.609 by allele; rs4819554: χ2 = 1.79, p = 0.409 by genotype, χ2 = 1.46, p = 0.227 by allele). Levels of serum IL-17A and IL-17F were significantly decreased in gout patients (both p<0.001). However, no difference was observed in acute gout patients between different genotypic carriers of rs2275913 and rs763780 regarding serum IL-17A and IL-17F levels (p>0.05). Although the genetic variants in IL-17 we studied in this research do not appear to be involved in the development of gout in male Chinese Han individuals, the IL-17 cytokine family may participate in gouty inflammation in an undefined way, which requires further validation. PMID:26890073

  19. Positive association between PPARD rs2016520 polymorphism and coronary heart disease in a Han Chinese population.

    PubMed

    Ye, H D; Li, Y R; Hong, Q X; Zhou, A N; Zhao, Q L; Xu, L M; Xu, M Q; Xu, X T; Tang, L L; Dai, D J; Jiang, D J; Huang, Y; Wang, D W; Duan, S W

    2015-06-11

    PPARD encodes peroxisome proliferator-activated re-ceptor delta, which has been shown to play an important role in control-ling lipid metabolism and atherosclerosis. In this case-control study, we explored the relationship between PPARD rs2016520 polymorphism and coronary heart disease (CHD) in a Han Chinese population. A to-tal of 657 CHD cases and 640 controls were included in the associa-tion study. rs2016520 polymorphism genotyping was performed using the melting temperature-shift polymerase chain reaction method. The PPARD rs2016520-G allele reduced CHD risk by 17.9% (χ(2) = 5.061, P = 0.025, OR = 0.821, 95%CI = 0.692-0.975). Furthermore, a signifi-cant difference in CHD risk was observed for the PPARD rs2016520 polymorphism in the dominant model (AG + GG vs AA: χ(2) = 4.751, degrees of freedom (df) = 1, P = 0.029, OR = 0.784, 95%CI = 0.631- 0.976). Analysis by age suggested that the G-allele decreased CHD risk by 14.8% in ages greater than 65 years (χ(2) = 4.446, P = 0.035, OR = 0.852, 95%CI = 0.684-1.060). In contrast, meta-analysis of PPARD rs2016520 among 3732 cases and 5042 controls revealed no associa-tion between PPARD rs2016520 and CHD (P = 0.19). We found that the PPARD rs2016520-GG genotype decreased CHD risk in a Han Chinese population. Moreover, we found an association between serum high-density lipoprotein cholesterol level and PPARD rs2016520 in senior individuals aged ≥ 65 years. The meta-analysis revealed no association between PPARD rs2016520 and CHD, suggesting ethnic differences in the association between the PPARD locus and CHD.

  20. Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan.

    PubMed

    Shen, Che-Piao; Lin, Wei-Yong; Lin, Ting-Fang; Wang, Wen-Fu; Tsai, Chon-Haw; Hsu, Ban-Dar; Huang, Chih-Yang; Liu, Hsin-Ping; Tsai, Fuu-Jen

    2014-04-30

    Development of Alzheimer's disease (AD) is characterized by progressive neuronal death and a decline in learning and memory. Mutations in human senataxin (SETX), an ortholog yeast protein of Sen1, have been identified to cause the syndrome of ataxia with oculomotor apraxia type 2 (AOA2) and juvenile amyotrophic lateral sclerosis (ALS4), two types of progressive motor neuron degeneration. However, the relationship between the SETX gene, which is involved in the regulation of RNA processing and DNA repair, and the predisposition for AD remains unclear. In this research, potential association of polymorphisms in the SETX gene with AD was investigated. A case-control study of a Chinese Han population in Taiwan was performed. Three single-nucleotide polymorphisms (SNPs), 3455T>G (rs3739922), 3576T>G (rs1185193) and 7759A>G (rs1056899) were studied. The experimental data showed that upon genotyping of the exonic polymorphism in the SETX gene, the T allele appeared at a lower rate than the G allele at position 3455 in AD patients compared with normal groups (P < 0.05, odds ratio (OR), 0.59, 95% confidence interval (CI), 0.40-0.89). Subjects with the GA genotype at position 7759 have higher incidences of AD development than with the AA genotype (P < 0.05, OR, 6.45, 95% CI, 1.24 to 33.70). Our results also showed that with six haplotypes (Hts) observed from the analyzed polymorphisms, distributions of the Ht4-GAA and Ht5-GCA haplotypes appeared to be significant 'risk' haplotypes between AD patients and controls (both P < 0.05, OR, 8.44, 95% CI, 1.07-66.60). These observations suggest that genetic variations in the SETX gene may contribute to AD pathogenesis in the Taiwanese Han population.

  1. Association analysis of ANK3 gene variants with schizophrenia in a northern Chinese Han population

    PubMed Central

    Guo, Xiaojuan; Zhang, Yani; Du, Jieli; Yang, Hua; Ma, Yini; Li, Jingjie; Yan, Mengdan; Jin, Tianbo; Liu, Xianyang

    2016-01-01

    Schizophrenia is a chronic, severely debilitating mental disorder. Many studies have suggested that genetic factors play an important role in the onset and development of schizophrenia. In our study, we conducted a case-control study in a northern Chinese Han population of 499 schizophrenia patients and 500 controls to investigate the effect of variant genotypes of 13 SNPs in ANK3 on schizophrenia risk. Odds ratios (OR) and 95% confidence intervals (CI) were estimated using the chi-squared test, genetic model analysis, and haplotype analysis. Four ANK3 SNPs were associated with schizophrenia risk. The minor allele of rs958852 in ANK3 was associated with a 0.75-fold reduction in schizophrenia risk in an allelic model. In the genetic model, rs958852 was associated with a reduced schizophrenia risk, and rs10994336, rs10994338 and rs4948418 were associated with an increased schizophrenia risk (rs10994336, OR = 2.00, 95%CI: 1.01–3.94, p = 0.047; rs10994338, OR = 1.99, 95%CI: 1.01–3.93, p = 0.047; rs4948418, OR = 2.00, 95%CI: 1.01–3.94, p = 0.047). In addition, haplotype “TTC” of ANK3 was associated with a 0.73-fold reduced schizophrenia risk (95%CI: 0.54–0.99; p = 0.044). To our knowledge, this is the first to report of an association between ANK3 rs10994336, rs10994338, rs4948418 and rs958852 and schizophrenia risk in a northern Chinese Han population. PMID:27811378

  2. Incidence and Simple Prediction Model of Hyperuricemia for Urban Han Chinese Adults: A Prospective Cohort Study

    PubMed Central

    Cao, Jin; Wang, Chunxia; Zhang, Guang; Ji, Xiang; Liu, Yanxun; Sun, Xiubin; Yuan, Zhongshang; Jiang, Zheng; Xue, Fuzhong

    2017-01-01

    Background: Hyperuricemia (HUA) contributes to gout and many other diseases. Many hyperuricemia-related risk factors have been discovered, which provided the possibility for building the hyperuricemia prediction model. In this study we aimed to explore the incidence of hyperuricemia and develop hyperuricemia prediction models based on the routine biomarkers for both males and females in urban Han Chinese adults. Methods: A cohort of 58,542 members of the urban population (34,980 males and 23,562 females) aged 20–80 years old, free of hyperuricemia at baseline examination, was followed up for a median 2.5 years. The Cox proportional hazards regression model was used to develop gender-specific prediction models. Harrell’s C-statistics was used to evaluate the discrimination ability of the models, and the 10-fold cross-validation was used to validate the models. Results: In 7139 subjects (5585 males and 1554 females), hyperuricemia occurred during a median of 2.5 years of follow-up, leading to a total incidence density of 49.63/1000 person years (64.62/1000 person years for males and 27.12/1000 person years for females). The predictors of hyperuricemia were age, body mass index (BMI) systolic blood pressure, serum uric acid for males, and BMI, systolic blood pressure, serum uric acid, triglycerides for females. The models’ C statistics were 0.783 (95% confidence interval (CI), 0.779–0.786) for males and 0.784 (95% CI, 0.778–0.789) for females. After 10-fold cross-validation, the C statistics were still steady, with 0.782 for males and 0.783 for females. Conclusions: In this study, gender-specific prediction models for hyperuricemia for urban Han Chinese adults were developed and performed well. PMID:28085072

  3. Genetic Analysis of IL-17 Gene Polymorphisms in Gout in a Male Chinese Han Population.

    PubMed

    Zhou, Zheng; Li, Xinde; Li, Hua; Guo, Mingzhen; Liu, Shiguo; Li, Changgui

    2016-01-01

    Interleukin (IL)-17 is a proinflammatory cytokine mainly secreted by activated T helper 17 cells and involved in inflammatory immune responses. This study aimed to investigate the association between IL-17 variants as well as serum IL-17 levels with gout in male Chinese Han individuals. A total of 1,101 male gout patients and 1,239 ethic-matched controls were enrolled. Genetic distributions of three variants (rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA) were detected by real-time polymerase chain reaction using the Taqman probe method. The plasma concentrations of IL-17A and IL-17F were measured in 228 gout patients and 198 controls that came from above samples by an enzyme-linked immunosorbent assay. No significant differences were observed in the genetic distribution of these polymorphisms between cases and controls (rs2275913: χ2 = 0.15, p = 0.928 by genotype, χ2 = 0.14, p = 0.711 by allele; rs763780: χ2 = 2.24, p = 0.326 by genotype, χ2 = 0.26, p = 0.609 by allele; rs4819554: χ2 = 1.79, p = 0.409 by genotype, χ2 = 1.46, p = 0.227 by allele). Levels of serum IL-17A and IL-17F were significantly decreased in gout patients (both p<0.001). However, no difference was observed in acute gout patients between different genotypic carriers of rs2275913 and rs763780 regarding serum IL-17A and IL-17F levels (p>0.05). Although the genetic variants in IL-17 we studied in this research do not appear to be involved in the development of gout in male Chinese Han individuals, the IL-17 cytokine family may participate in gouty inflammation in an undefined way, which requires further validation.

  4. Population data of 21 non-CODIS STR loci in Han population of northern China.

    PubMed

    Yuan, Li; Ge, Jianye; Lu, Di; Yang, Xue

    2012-07-01

    Allele frequencies and forensic statistics of 21 autosomal short tandem repeat loci (i.e., D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435 and D5S2500) were estimated in Han population from northern China (n = 220). Significant deviation from Hardy-Weinberg equilibrium was detected only for D22S1045. The observed heterozygosity, the expected heterozygosity, the discrimination power, the probability of paternity exclusion in trios, the probability of paternity exclusion in duos and the polymorphic information content ranged from 0.591 to 0.836, 0.594 to 0.830, 0.762 to 0.948, 0.341 to 0.659, 0.189 to 0.487 and 0.535 to 0.807, respectively. Triallelic patterns were observed at D19S433 and D10S1435. Mutations occurred at D22ATA63, D10S1248, D19S433 and D14S1434 loci with all single-step mutations. The expected mutation rates of these four loci are 0.0042 with 95% confidence interval [0.0001, 0.0232] in a total of 238 meioses. Our results show that these 21 non-CODIS STR loci are highly polymorphic and can be useful for human identification and kinship analysis in Northern Han population in China.

  5. Genetic polymorphism of Malassezia furfur isolates from Han and Tibetan ethnic groups in China using DNA fingerprinting.

    PubMed

    Zhang, Hao; Zhang, Ruifeng; Ran, Yuping; Dai, Yaling; Lu, Yao; Wang, Peng

    2010-12-01

    Reported isolation rates of Malassezia yeast from human skin show geographic variations. In China, the populations of the Han (1,182.95 million) and Tibetan (5.41 million) ethnic groups are distributed over 9.6 and 3.27 million square kilometers respectively, making biodiversity research feasible and convenient. Malassezia furfur clinical strains (n = 29) isolated from different individuals, with or without associated dermatoses, of these two ethnic groups (15 Han and 12 Tibetan) were identified and analyzed with DNA fingerprinting using single primers specific to minisatellites. Using the Bionumerics software, we found that almost all M. furfur clinical isolates and type strains formed five distinct group clusters according to their associated skin diseases and the ethnic groups of the patients. These findings are the first to focus on the genetic diversity and relatedness of M. furfur in the Tibetan and Han ethnic groups in China and reveal genetic variation associated with related diseases, host ethnicity and geographic origin.

  6. Comparative analysis of platelet 5-HT concentrations in Han and Li patients with post-traumatic stress disorder.

    PubMed

    Li, L; Li, M X; Pan, L H; Wang, G M; Guo, M; Fu, L Q; Guo, J C; Gao, Y S; Chen, F; Xie, M X

    2016-07-15

    We investigated the role of serotonin (5-HT) in the pathogenesis of post-traumatic stress disorder (PTSD) by determining the platelet 5-HT concentrations in Li and Han patients with PTSD in Hainan Province, China. Li and Han control groups of the same sample size have no statistical differences in gender and age distribution compared to those in the PTSD groups who were also examined. The platelet 5-HT concentrations were determined by high-performance liquid chromatography. In addition, the patients and controls were evaluated by the impact of event scale-revised (IES-R). IES-R showed that the total and sub-scale scores of three factors (avoidance, intrusion, and hyperarousal) of Li patients with PTSD were significantly higher than those of Han patients with PTSD. Scores of both PTSD groups were higher than those of their respective control groups. The platelet 5-HT concentration of the Li patients with PTSD (120.56 ± 118.05 ng/10(9) platelets) was lower than that of the Han patients with PTSD (271.43 ± 181.66 ng/10(9) platelets) and that of both Li and Han control groups (338.54 ± 156.46, 350.58 ± 169.19 ng/10(9) platelets, respectively). Differences existed in symptoms of PTSD in terms of avoidance, intrusion, and hyperarousal in the Li and Han patients with PTSD. The diminished 5-HT activity in patients with PTSD may be relevant to biochemical changes in the brain and body. The differences in these factors between ethnic groups could be due to their customs, social status, and culture.

  7. Association of a CYP4A11 polymorphism and hypertension in the Mongolian and Han populations of China.

    PubMed

    Liang, J Q; Yan, M R; Yang, L; Suyila, Q; Cui, H W; Su, X L

    2014-01-21

    Human cytochrome P450 4A11 (CYP4A11) plays a role in the regulation of blood pressure through the conversion of arachidonic acid into 20-hydroxyeicosatetraenoic acid (20-HETE). We therefore investigated the association between a CYP4A11 polymorphism (rs9333025) with hypertension in the Mongolian and Han ethnic groups. We studied 514 Mongolians in a pastoral area, including 201 hypertension patients and 313 normotensive controls, and 524 Han individuals in an urban area, including 215 hypertension patients and 309 normotensive controls. Genotyping was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Genotype, allele, and dominant inheritance differed significantly between the Mongolian and Han populations (P = 0.006, P = 0.002, and P = 0.003, respectively). Significant differences were also observed in these factors when considering only males (P = 0.001, P = 0.003, and P = 0.001, respectively). For the Han population, recessive inheritance differed significantly between hypertension patients and controls and between male patients and controls (P = 0.005 and P = 0.049, respectively). The genotypic, allelic, and dominant frequencies differed significantly between hypertension patients in both populations (P = 0.019, P = 0.035, and P = 0.024, respectively). The genotypic frequency in Mongolian male patients was significantly different from that in Han male patients (P = 0.009). Higher body mass index, triglycerides, and lower high-density lipoprotein were associated with increased risk of developing hypertension in the Han population. The GG genotype was in higher frequency in the Mongolian population, indicating that it is a high risk factor for hypertension. Mongolian men were at higher risk of developing hypertension.

  8. Study on the adult physique with the Heath-Carter anthropometric somatotype in the Han of Xi'an, China.

    PubMed

    Yang, Li-Tao; Wang, Ning; Li, Zeng-Xian; Liu, Cui; He, Xin; Zhang, Jian-Fei; Han, Hua; Wen, You-Feng; Qian, Yi-Hua; Xi, Huan-Jiu

    2016-03-01

    The study of somatotypes has important significance for medical and physical anthropology as well as sports science. The aim of this study was to understand the somatotype components of the Han population in Xi'an and compare the somatotypes of the Han and five other nationalities in China. The study sample consisted of 429 people of Han nationality (207 males, 222 females) from Xi'an, China, aged ≥20 years old. The Heath-Carter anthropometric method was employed. We evaluated the differences in age and sex by one-way ANOVA and t test. A comparison of somatotypes between the Han and other nationalities was made using the U test. The results showed that the male and female samples all could be classified as having a mesomorphic endomorph profile. The difference in endomorphy was strongest between sexes in all age groups (P < 0.01). There were prominent differences in mesomorphy and ectomorphy between males and females in the 50-59- and ≥60-year-old age groups. In females, the differences in somatotype components appeared to be distinguished between ages (P < 0.01 or P < 0.05). However, in males, there were prominent differences in somatotype components between the 20-29 year olds and all other age groups (P < 0.01 or P < 0.05) except for between those 20-29 and ≥60 years old in endomorphy. Compared with the other five nationalities, there were prominent differences in somatotype components between males and females. These results suggest that the somatotype of the Han population in Xi'an, China, has a predominantly mesomorphic endomorph profile. The endomorphic component shows distinct differences between ages and genders, respectively. Additionally, there are distinct differences in the somatotype components between Xi'an Han and five other nationalities in China in males and females.

  9. Femoral Version, Neck-Shaft Angle, and Acetabular Anteversion in Chinese Han Population

    PubMed Central

    Jiang, Nan; Peng, Lin; Al-Qwbani, Mohammed; Xie, Guo-Ping; Yang, Qin-Meng; Chai, Yu; Zhang, Qing; Yu, Bin

    2015-01-01

    Abstract Anatomic data regarding femoral version, neck-shaft angle, and acetabular anteversion are still limited in Chinese Han adult population. The aim of this study was to investigate the effects of age, sex, and body laterality on the 3 important anatomic indicators in Chinese Han healthy adults. Measurements were performed independently by 3 experienced observers using the picture archiving and communication system (PACS) in healthy adults who had received imaging tests of the femur and acetabulum between January 2009 and October 2014. Relevant data were measured and analyzed. A total of 466 adults (353 males and 113 females) were included. The mean femoral version, neck-shaft angle, and acetabular anteversion for all were 10.62, 133.02, and18.79, respectively. Age-based analysis showed that adults younger than 60 years had a significantly higher neck-shaft angle (P < 0.001) but a significantly lower acetabular anteversion (P < 0.001) than those older than 60 years. Sex-based analysis revealed that females had significantly higher values of femoral version (P < 0.001) and acetabular anteversion (P < 0.001) than males. Laterality-based analysis found the left side had a significantly lower acetabular anteversion (P < 0.001) than the right side. Outcomes of multiple linear regression analysis indicated that femoral version may be associated with sex (P < 0.001) but not age (P = 0.076) or laterality (P = 0.430), neck-shaft angle may be associated with age (P < 0.001) but not sex (P = 0.378) or laterality (P = 0.233), and acetabular anteversion may be associated with age (P < 0.001) and sex (P < 0.001) but not laterality (P = 0.060). In this representative Chinese cohort, neck-shaft angle may decrease, whereas acetabular anteversion may increase with age, females may have higher values of femoral version and acetabular anteversion than males, and the right body side may have a higher value of acetabular

  10. New insights from GWAS for the cleft palate among han Chinese population

    PubMed Central

    Duan, Shi-Jun; Huang, Ning; Zhang, Bi-He; Shi, Jia-Yu; He, Sha; Ma, Jian; Yu, Qiong-Qiong; Shi, Bing

    2017-01-01

    Background Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. Material and Methods In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering transmissions from heterozygous fathers versus heterozygous mothers to affected offspring. Results Allelic TDT results showed that T allele at rs742071 (PAX7) (p=0.025, ORtransmission=3.00, 95%CI: 1.09-8.25) and G allele at rs2485893 (10kb 3’ of SYT14) were associated with NSCPO (p=0.0036, ORtransmission= 0.60, 95%CI: 0.42-0.85). Genotypic TDT based on 3 pseudo controls further confirmed that rs742071 (p-value=0.03, ORtransmission=3.00, 95%CI: 1.09-8.25) and rs2485893 were associated with NSCPO under additive model (p-value= 0.02, ORtransmission= 0.66, 95%CI: 0.47-0.92). Genotypic TDT for epistatic interactions showed that rs4844913 (37kb 3’ of DIEXF) interacted with rs11119388 (SYT14) (p-value=1.80E-08) and rs6072081 (53kb 3’ of MAFB) interacted with rs6102085 (33kb 3’ of MAFB) (p-value=3.60E-04) for NSCPO, suggesting they may act in the same pathway in the etiology of NSCPO. Conclusions In this study, we found that rs742071 and rs2485893 were associated NSCPO from Han Chinese population; also, interactions of rs4844913:rs11119388 and rs6072081:rs6102085 for NSCPO were identified, gene-gene interactions have been proposed as a potential source of the remaining heritability, these findings provided new insights of the previous GWAS. Key words:GWAS, NSCPO, TDT, parent

  11. Association between TGFBR2 gene polymorphisms and congenital heart defects in Han Chinese population.

    PubMed

    Huang, Fuhua; Li, Li; Shen, Chong; Wang, Hairu; Chen, Jinfeng; Chen, Wen; Chen, Xin

    2014-10-31

    Antecedentes: Factor de crecimiento transformante receptor II (TGFBR2) es un componente clave de la via de señalización de TGF - .TGFBR2 puede ser detectado en la generación de corazón. Los embriones de ratón de TGFBR2 gene knockout mostraron defectos congénitos del corazon. Métodos: Hemos realizado un estudio de casos y controles para investigar la asociación entre polimorfismos del gen TGFBR2 y defectos congénitos del corazón en la población china han. 125 pacientes con defectos congénitos del corazón y 615 unrelated controles fueron reclutados. Marcado de dos polimorfismos de nucleótido único (tagsnps) en 5 ‘aguas arriba del gen TGFBR2 (rs6785358, - 3779a / g; rs764522, - 1444c / g) fueron seleccionados y genotipados por reacción en cadena de la polimerasa (PCR) - polimorfismos de longitud de fragmentos de restricción (RFLP) de ensayo. Resultados: Se observó una diferencia significativa en la distribución de genotipos entre pacientes con defectos congénitos del corazón y controles para SNP rs6785358 (P = 0043). La SNP rs6785358 el porteador del alelo G (AG / GG genotipo) mostraron un importante crecimiento y mayor riesgo de defectos congénitos del corazón en comparación con AA homocigotos (OR = 1.545, IC del 95%: 1.013–2.356). Más análisis por sexo estratificación indicó que los individuos con alelo G (AG / GG genotipo) para SNP rs6785358 tienen una mayor susceptibilidad a defectos congénitos del corazón (OR = 2.088, IC del 95%: 1.123-3.883, p = 0.019) en machos, pero no en las mujeres (OR = 1.195, IC del 95%: 0.666-2.146, p = 0.55). No hay significación estadística fue detectado en la distribución de los genotipos y frecuencias de alelos de SNP rs764522 entre pacientes y controles. Conclusión: Nuestros resultados sugieren que el SNP rs6785358 de gen TGFBR2 se asoció con un mayor riesgo de defectos congénitos del corazón en los chinos han hombres y más investigación estaría justificada.

  12. TRPM8 genetic variations associated with COPD risk in the Chinese Han population

    PubMed Central

    Xiong, Mingmei; Wang, Jian; Guo, Meihua; Zhou, Qipeng; Lu, Wenju

    2016-01-01

    TRPM8 plays a key role in COPD. The development of pulmonary hypertension (PH) in COPD adversely affects survival and exercise capacity. Thus, the aim of this study was to evaluate the possible association between single nucleotide polymorphisms (SNPs) in TRPM8 and COPD or PH in COPD among the Chinese Han population. A total of 513 COPD patients and 506 controls were enrolled in the study. Six tag SNPs (tSNPs) were genotyped. The relationship between COPD or PH in COPD and the six tSNPs was evaluated using the χ2 test and genetic model analysis. In the rs9789398 polymorphism, the T/C genotype was associated with an increased risk for COPD (P=0.005). Under the assumption of models of inheritance, there was an association between the rs9789398 polymorphism and COPD. In the rs9789675 polymorphism, the G/A genotype was associated with an increased risk for COPD (P=0.021). Furthermore, by the χ2 test, we found that the minor allele “A” of rs9789675 (odds ratio [OR] =0.63, 95% confidence interval [CI], 0.42–0.97, P=0.034) and the minor allele “C” of rs9789398 (OR =1.59, 95% CI, 1.03–2.44, P=0.034) were associated with a decreased risk of PH in COPD in allele models. In genetic models, the genotypes “GA” and “AA” of rs9789675 were associated with a decreased risk of PH in COPD. The genotypes “TC” and “CC” of rs9789398 were associated with a decreased risk of PH in COPD. Moreover, “CG” of rs1004478 was significantly associated with a decreased risk of PH in COPD. There was a significant association between the five SNPs (rs2362290, rs9789675, rs9789398, rs1003540, and rs104478) in the TRPM8 gene and the risk of PH in COPD. Our findings indicated that rs9789398 in the TRPM8 gene was significantly associated with the risk of COPD in the Chinese Han population. Moreover, rs9789675, rs9789398, and rs1004478 were significantly associated with the risk of PH in COPD. This study provides a novel insight into COPD and PH in the development of COPD

  13. Pen size and parity effects on maternal behaviour of Small-Tail Han sheep.

    PubMed

    Lv, S-J; Yang, Y; Dwyer, C M; Li, F-K

    2015-07-01

    The aim of this experiment was to study the effects of pen size and parity on maternal behaviour of twin-bearing Small-Tail Han ewes. A total of 24 ewes were allocated to a 2×2 design (six per pen), with parity (primiparous or multiparous) and pen size (large: 6.0×3.0 m; small: 6.0×1.5 m) as main effects at Linyi University, Shandong Province, China. Behaviour was observed from after parturition until weaning. All ewes were observed for 6 h every 5 days from 0700 to1000 h and from 1400 to 1700 h. Continuous focal animal sampling was used to quantify the duration of maternal behaviours: sucking, grooming and following as well as the frequency of udder accepting, udder refusing and low-pitched bleating. Oestradiol and cortisol concentrations in the faeces (collected in the morning every 5 days) were detected using EIA kits. All lambs were weighed 24 h after parturition and again at weaning at 35 days of age. The small pen size significantly reduced following (P<0.005), grooming (P<0.001) and suckling durations (P<0.05), as well as the frequency of udder refusals (P<0.001). However, there was a significant interaction with ewe parity, with decreased grooming and suckling in the small pen largely seen in the multiparous ewes (P<0.001). Independent of pen size, multiparous ewes accepted more sucking attempts by their lambs (P<0.05) and made more low-pitched bleats than primiparous ewes (P<0.001). Multiparous ewes had higher faecal oestradiol concentrations than primiparous ewes (P<0.001), and ewes in small pens had higher faecal cortisol levels compared with ewes in larger pens (P<0.001). As lambs increased in age, the duration of maternal grooming, following and suckling as well as frequency of udder acceptance and low-pitched bleating all declined, and the frequency of udder refusing increased (P<0.001 for all). Ewe parity, but not pen size, affected lamb weight gain during the period of observation (P<0.001). This is the first study to show that pen size

  14. Association of regulator of G protein signaling (RGS5) gene variants and essential hypertension in Mongolian and Han populations.

    PubMed

    Chang, P Y; Qin, L; Zhao, P; Liu, Z Y

    2015-12-21

    Genetic variants of the RGS5 gene are believed to be risk factors for hypertension and cardiovascular diseases. In this study, we investigated the association between RGS5 gene variants and hypertension in the Mongolian and Han populations. Peripheral blood was obtained from 429 unrelated Mongolian herdsmen and 416 Han farmers [including essential hypertension (EH) patients and controls]. Nine tagSNPs within the RGS5 genes were retrieved from HapMap, and the samples were individually genotyped using the polymerase chain reaction/ligase detection reaction assay. The distribution of the allele frequency of rs12035879 differed significantly between hypertensive subjects and controls in the Han population, while the distribution of the allele and genotype frequencies of rs16849802 differed significantly between hypertensive subjects and controls in the Mongolian population. We observed an association between rs16849802 and EH in the Mongolian population. The frequency of haplotype GAA was significantly higher in the EH group than in controls in the Mongolian population. However, the EH group and controls did not differ significantly in all 6 haplotypes in the Han population. The rs16849802 and haplotype GAA independently increased the risk of EH in Mongolian patients, and may be used as a risk factor for the prediction of high blood pressure.

  15. The common single-nucleotide polymorphism rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women.

    PubMed

    Wan, Ji-Peng; Wang, Hong; Li, Chang-Zhong; Zhao, Han; You, Li; Shi, Dong-Hong; Sun, Xiu-Hua; Lv, Hong; Wang, Fei; Wen, Ze-Qing; Wang, Xie-Tong; Chen, Zi-Jiang

    2014-11-01

    Preeclampsia, characterized by hypertension and proteinuria, remains a leading cause of maternal morbidity and mortality. Recently, a genome-wide association study (GWAS) identified the single-nucleotide polymorphism, rs2681472, as a new hypertension susceptibility genetic variant. The purpose of this study was to evaluate the association between preeclampsia and rs268172 in a Northern Han Chinese population. We genotyped 1218 unrelated Northern Han Chinese women, including 515 patients with preeclampsia and 703 healthy controls. No significant differences were detected in the allele frequencies between patients and controls (P = .23). When patients were divided into early-onset and late-onset preeclampsia according to gestational age of disease onset, the allele frequencies significantly differed between controls and patients with early-onset preeclampsia (P = .02). Genotype frequencies also were significantly different between controls and patients early-onset preeclampsia when data were analyzed under additive (P = .03) and dominant (P = .009) models. We replicated this association in an independent Northern Han Chinese population and observed a significant difference in the allele frequencies between patients with early-onset preeclampsia and controls (P = .011). We report that rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women.

  16. "The Snow Queen": Adapted from the Story by Hans Christian Andersen by Sandra Deer. Cue Sheet for Students.

    ERIC Educational Resources Information Center

    Pratt, Suzanne

    This performance guide is designed for teachers to use with students before and after a performance of "The Snow Queen," adapted from the story by Hans Christian Andersen by Sandra Deer. The guide, called a "Cuesheet," contains seven sheets for use in class, addressing: (1) What Happens in "The Snow Queen?" (offering…

  17. Cultivating Self-Worth among Dislocated Tibetan Undergraduate Students in a Chinese Han-Dominated National Key University

    ERIC Educational Resources Information Center

    Yi, Lin; Wang, Lili

    2012-01-01

    Drawing upon fieldwork conducted with a group of dislocated Tibetan undergraduate students of the "neidi ban" program in a Han-predominated university, this paper examines the ways in which these students make sense of their worlds. To achieve this, they have actively and engagingly organized a series of symbolically meaningful…

  18. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.

    PubMed

    Deng, Min; Wei, Ling; Zuo, Xianbo; Tian, Yanghua; Xie, Fei; Hu, Panpan; Zhu, Chunyan; Yu, Fengqiong; Meng, Yu; Wang, Honghao; Zhang, Fangfang; Ma, Huijuan; Ye, Rong; Cheng, Huaidong; Du, Jing; Dong, Wenwen; Zhou, Shanshan; Wang, Changqing; Wang, Yu; Wang, Jingye; Chen, Xianwen; Sun, Zhongwu; Zhou, Nong; Jiang, Yubao; Liu, Xiuxiu; Li, Xiaogang; Zhang, Nan; Liu, Na; Guan, Yingjun; Han, Yongsheng; Han, Yongzhu; Lv, Xinyi; Fu, Yu; Yu, Hui; Xi, Chunhua; Xie, Dandan; Zhao, Qiyuan; Xie, Peng; Wang, Xin; Zhang, Zhijun; Shen, Lu; Cui, Yong; Yin, Xianyong; Cheng, Hui; Liang, Bo; Zheng, Xiaodong; Lee, Tatia M C; Chen, Gang; Zhou, Fusheng; Veldink, Jan H; Robberecht, Wim; Landers, John E; Andersen, Peter M; Al-Chalabi, Ammar; Shaw, Chris; Liu, Chunfeng; Tang, Beisha; Xiao, Shangxi; Robertson, Janice; Zhang, Fengyu; van den Berg, Leonard H; Sun, Liangdan; Liu, Jianjun; Yang, Sen; Ju, Xiaodong; Wang, Kai; Zhang, Xuejun

    2013-06-01

    To identify susceptibility genes for amyotrophic lateral sclerosis (ALS), we conducted a genome-wide association study (GWAS) in 506 individuals with sporadic ALS and 1,859 controls of Han Chinese ancestry. Ninety top SNPs suggested by the current GWAS and 6 SNPs identified by previous GWAS were analyzed in an independent cohort of 706 individuals with ALS and 1,777 controls of Han Chinese ancestry. We discovered two new susceptibility loci for ALS at 1q32 (CAMK1G, rs6703183, Pcombined = 2.92 × 10(-8), odds ratio (OR) = 1.31) and 22p11 (CABIN1 and SUSD2, rs8141797, Pcombined = 2.35 × 10(-9), OR = 1.52). These two loci explain 12.48% of the overall variance in disease risk in the Han Chinese population. We found no association evidence for the previously reported loci in the Han Chinese population, suggesting genetic heterogeneity of disease susceptibility for ALS between ancestry groups. Our study identifies two new susceptibility loci and suggests new pathogenic mechanisms of ALS.

  19. Genetic polymorphisms for 19 autosomal STR loci of Chongqing Han ethnicity and phylogenetic structure exploration among 28 Chinese populations.

    PubMed

    Zou, Xing; Li, YongGuo; Li, Ping; Nie, QianYun; Wang, Ting; Hu, Yue; Zhu, Ying; Li, JianBo; Tang, RenKuan

    2017-03-24

    The allele frequencies and forensic statistical parameters of 19 autosomal short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1P0, D3S1358, THOl, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA, D6S1043, Penta D, Penta E, and D12S391) included in the Goldeneye™ DNA ID system 20A kit were obtained in 671 Chinese Han individuals residing in Chongqing, Southwest China. All 19 STR loci were identified in agreement with the Hardy-Weinberg equilibrium. A total of 238 alleles were observed with corresponding allele frequencies that varied from 0.0007 to 0.5119. The combined power of discrimination and the combined probability of exclusion for 19 STR loci in the Chongqing Han population were 0.99999999999999999999998954 and 0.99999998387, respectively. The findings indicated that the 19 autosomal STR loci were highly polymorphic in the Chongqing Han population and can be used as a powerful tool in personal identification and parentage testing. Our genetic study enriched the Chinese local forensic reference database. Population comparisons and phylogenetic analyses revealed that genetic heterogeneity widely existed among the Chongqing Han, Xinjiang Uyghur, and Kazakh populations as well as demonstrated that genetic similarity was tightly associated with those of close geographic origin or of the same ethnic origin.

  20. Hans van Ginkel: On the Vision, History and Status of the Regional Centres of Expertise in ESD Programme

    ERIC Educational Resources Information Center

    Glasser, Harold

    2008-01-01

    Professor Hans van Ginkel, Rector of the United Nations University, Tokyo, (1997-2007) and president of the International Association of Universities (2000-2004), pioneered the concept of Regional Centers of Expertise in Education for Sustainable Development (RCEs) as a strategy for meeting the goals of the United Nations Decade of Education for…

  1. Association of the ARL15 rs6450176 SNP and serum lipid levels in the Jing and Han populations

    PubMed Central

    Sun, Jia-Qi; Yin, Rui-Xing; Shi, Guang-Yuan; Shen, Shao-Wen; Chen, Xia; Bin, Yuan; Huang, Feng; Wang, Wei; Lin, Wei-Xiong; Pan, Shang-Ling

    2015-01-01

    The association of ADP-ribosylation factor-like 15 (ARL15) rs6450176 single nucleotide polymorphism (SNP) and serum lipid profiles has never been studied in the Chinese population. The present study was undertaken to detect the association of ARL15 rs6450176 SNP and several environmental factors with serum lipid levels in the Jing and Han populations. Genotypes of the SNP were determined in 726 unrelated subjects of Jing nationality and 726 participants of Han nationality. The genotypic and allelic frequencies of the SNP in Jing but not in Han were different between males and females (P < 0.001 and P < 0.05; respectively). The G allele carriers in Han had lower serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) B levels, and higher ApoA1/ApoB ratio than the G allele non-carriers (P < 0.05-0.01). The G allele carriers in Jing had lower serum TC, high-density lipoprotein cholesterol (HDL-C), ApoA1, ApoB levels and higher ApoA1/ApoB ratio than the G allele non-carriers (P < 0.05 for all). Subgroup analyses showed that the G allele carriers had lower TC and LDL-C levels in Han males; lower LDL-C and ApoB levels in Han females; lower ApoB levels and ApoA1/ApoB ratio in Jing males; and lower LDL-C levels in Jing females than the G allele non-carriers (P < 0.05-0.01). Multiple linear regression analysis showed that serum TC, LDL-C, ApoB levels and the ApoA1/ApoB ratio in Han; and TC, HDL-C and ApoA1 levels in Jing were correlated with the genotypes of the ARL15 rs6450176 SNP (P < 0.05-0.001). Serum lipid parameters were also associated with several environmental factors in both ethnic groups. These findings indicated that there may be a racial/ethnic- and/or sex-specific association of the ARL15 rs6450176 SNP and serum lipid levels. PMID:26722494

  2. IL-10 Genetic Polymorphisms Were Associated with Valvular Calcification in Han, Uygur and Kazak Populations in Xinjiang, China

    PubMed Central

    Ma, Yi-Tong; Wulasihan, Muhuyati; Huang, Ying; Adi, Dilare; Yang, Yi-Ning; Ma, Xiang; Li, Xiao-Mei; Xie, Xiang; Huang, Ding; Liu, Fen; Chen, Bang-Dang

    2015-01-01

    Objective Valvular calcification occurs via ongoing endothelial injury associated with inflammation. IL-10 is an anti-inflammatory cytokine and 75% of the variation in IL-10 production is genetically determined. However, the relationship between genetic polymorphisms of IL-10 and valvular calcification has not been studied. The objective of this study was to investigate the association between valvular calcification and IL-10 genetic polymorphisms in the Han, Uygur and Kazak populations in China. Patients and Methods All of the participants were selected from subjects participating in the Cardiovascular Risk Survey (CRS) study. The single nucleotide polymorphisms (SNPs) rs1800871 and rs1800872 of the IL-10 gene were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Three independent case-control studies involving the Han population, the Uygur population and the Kazak population were used in the analysis. Results For the Han and Kazak populations, rs1800871 was found to be associated with valvular calcification in the recessive model, and the difference remained statistically significant following multivariate adjustment (p<0.001, p=0.031, respectively). For the Han, Uygur and Kazak populations, rs1800872 was found to be associated with valvular calcification in the dominant model, and the difference remained statistically significant following multivariate adjustment (p<0.001, p=0.009, and p=0.023,respectively) Conclusion Both rs1800871 and rs1800872 of the IL-10 gene are associated with valvular calcification in the Han and Kazak populations in China. Rs1800872 is also associated with valvular calcification in the Uygur population. PMID:26039365

  3. Association between genetic polymorphism in NFKB1 and NFKBIA and coronary artery disease in a Chinese Han population

    PubMed Central

    Lai, Hongmei; Chen, Qingjie; Li, Xiaomei; Ma, Yitong; Xu, Rui; Zhai, Hui; Liu, Fen; Chen, Bangdang; Yang, Yining

    2015-01-01

    Objectives: Prior studies have demonstrated NF-κB plays an important role in the development and progression of inflammatory diseases. The aim of this study was to investigate whether promoter polymorphisms in NFKB1 and NFKBIA gene are associated with coronary artery disease (CAD) in a Chinese Han population. Methods: A total of 1140 Han CAD patients and 1156 Han control subjects were genotyped for 4 single-nucleotide polymorphisms (SNPs) in the promoter region of NFKBIA gene (rs3138053, rs2233406, rs2233409) and NFKB1 gene (-94 ins/del ATTG, rs28362491) by using the TaqMan SNP genotyping assays, and then NFKBIA haplotype blocks were reconstructed according to our genotyping data. Results: For total, men, and women, the distribution of genotypes, alleles of rs3138053, rs2233406, rs2233409 and haplotype polymorphisms showed no significant difference between CAD cases and controls. None of the studied NFKBIA SNPs were associated with CAD. For total, men, and women, there was significant difference in the distribution of the genotypes (P=0.001, P=0.024, P= 0.022) and alleles (P=0.001, P=0.012, P=0.031) of rs28362491 in CAD cases and controls. For total, men, and women, the rs28362491 was associated with increased risk of CAD in a recessive model after adjustment for covariates (OR=1.505, 95% CI 1.190 to 1.903, P=0.001; OR=1.469, 95% CI 1.082-1.993, P=0.014; OR=1.622, 95% CI 1.118 to 2.352, P=0.011, respectively). Conclusions: In our study, the -94 ins/del ATTG polymorphism in NFKB1 promoter is associated with CAD susceptibility in Chinese Han population, providing a new insight into the genetics of CAD in Chinese Han population. PMID:26885097

  4. A Mössbauer study of an ancient pottery figure (Western-Han dynasty)

    NASA Astrophysics Data System (ADS)

    Zhou, Yan; Dai, Kaimei; Liu, Rongchuan; Hsia, Yuanfu; Jiang, Zanchu

    1992-04-01

    The grey pottery figure manufactured in the Western-Han Dynasty (175-118 B.C.) and the clay gathered from the same site of Beidongshan in Xuzhou have been studied by X-ray Diffraction(XRD). X-ray Fluorescence (XRF), and Mössbauer spectroscopy. They were simultaneously fired under the same conditions in different atmospheres at various temperature up to 1100°C. This study deals with the original firing atmosphere, original firing temperature and its provenance. The information mentioned above can be inferred from the method of the refiring pottery and the firing clay. The results of the original firing temperature deduced from both of them are in goodself agreement. It is found that the values of the Mössbauer parameters for the unrefired pottery figure are approximately the same as those for the clay fired at 950°C for five hours in a reduced atmosphere. The XRF analysis confirmed the locality of this pottery figure.

  5. Seasonal and short term fluctuations of iceberg flux from Hans Glacier Spitsbergen

    NASA Astrophysics Data System (ADS)

    Jania, Jacek; Blaszczyk, Malgorzata; Cieply, Michal; Grabiec, Mariusz; Budzik, Tomasz; Ignatiuk, Dariusz; Uszczyk, Aleksander; Tymrowska, Patrycja; Majchrowska, Elzbieta; Prominska, Agnieszka; Walczowski, Waldemar; Pastusiak, Tadeusz; Petlicki, Michal; Puczko, Dariusz

    2016-04-01

    Glacier iceberg flux due to calving might be an important source of freshwater deliver to Arctic fjords. Mass loss due to calving gives also significant contribution of glacier mass budget. Seasonal changes of dynamics of tidewater glaciers is generally known. After advance of glacier front during winter, summer recession occurs thanks to higher calving in the warmer period of the year. Nevertheless, annual course of iceberg flux intensity is not calculated frequently. Observations and survey of glacier dynamics were conducted on Hans Glacier a polythermal glacier ending down into Hornsund Fiord in Southern Spitsbergen. They provide information for discernment of seasonal calving intensity and iceberg supply to the fiord as a source of freshwater seasonally and in shorter periods of time. Source data on glacier front geometry, bathymetry of the fore bay, seasonal fluctuation of ice-cliff position and glacier velocity were obtained by different field survey and remote sensing methods. Time lapse photos, repeated terrestrial laser scanning and measurements of sea water temperature, salinity and dynamics as well, together with record from meteorological stations were used to determine factors of calving intensity. Calving flux from the glacier to Hornsund Fjord was calculated for short-period events and selected summer seasons between 2007 and 2015. Interannual differences in calving flux were also estimated. Ratios of meltwater to iceberg freshwater supply to the fiord was preliminarily estimated as well.

  6. Serum trace element differences between Schizophrenia patients and controls in the Han Chinese population

    PubMed Central

    Cai, Lei; Chen, Tianlu; Yang, Jinglei; Zhou, Kejun; Yan, Xiaomei; Chen, Wenzhong; Sun, Liya; Li, Linlin; Qin, Shengying; Wang, Peng; Yang, Ping; Cui, Donghong; Burmeister, Margit; He, Lin; Jia, Wei; Wan, Chunling

    2015-01-01

    Little is known about the trace element profile differences between Schizophrenia patients and healthy controls; previous studies about the association of certain elements with Schizophrenia have obtained conflicting results. To identify these differences in the Han Chinese population, inductively coupled plasma-mass spectrometry was used to quantify the levels of 35 elements in the sera of 111 Schizophrenia patients and 110 healthy participants, which consisted of a training (61/61 for cases/controls included) and a test group including remaining participants. An orthogonal projection to latent structures model was constructed from the training group (R2Y = 0.465, Q2cum = 0.343) had a sensitivity of 76.0% and a specificity of 71.4% in the test group. Single element analysis indicated that the concentrations of cesium, zinc, and selenium were significantly reduced in patients with Schizophrenia in both the training and test groups. The meta-analysis including 522 cases and 360 controls supported that Zinc was significantly associated with Schizophrenia (standardized mean difference [SMD], −0.81; 95% confidence intervals [CI], −1.46 to −0.16, P = 0.01) in the random-effect model. Information theory analysis indicated that Zinc could play roles independently in Schizophrenia. These results suggest clear element profile differences between patients with Schizophrenia and healthy controls, and reduced Zn level is confirmed in the Schizophrenia patients. PMID:26456296

  7. TOX and ADIPOQ Gene Polymorphisms Are Associated with Antipsychotic-Induced Weight Gain in Han Chinese

    PubMed Central

    Li, Shen; Xu, Chengai; Tian, Yuan; Wang, Xueshi; Jiang, Rui; Zhang, Miaomiao; Wang, Lili; Yang, Guifu; Gao, Ying; Song, Chenyu; He, Yukun; Zhang, Ying; Li, Jie; Li, Wei-Dong

    2017-01-01

    To find the genetic markers related to the antipsychotic-induced weight gain (AIWG), we analyzed associations among candidate gene single-nucleotide polymorphisms (SNPs) and quantitative traits of weight changes and lipid profiles in a Chinese Han population. A total of 339 schizophrenic patients, including 86 first-episode patients (FEPs), meeting the entry criteria were collected. All patients received atypical antipsychotic drug monotherapy and hospitalization and were followed for 12 weeks. Forty-three SNPs in 23 candidate genes were calculated for quantitative genetic association with AIWG, performed by PLINK. The TOX gene SNP rs11777927 (P = 0.009) and the ADIPOQ gene SNP rs182052 (P = 0.019) were associated with AIWG (in body mass index, BMI). In addition, the BDNF SNP rs6265 (P = 0.002), BDAF SNP rs11030104 SNP (P = 0.001), and ADIPOQ SNPs rs822396 (P = 0.003) were significantly associated with the change of waist-to-hip ratio (WHR) induced by atypical antipsychotics. These results were still significant after age and gender adjustments. These findings provide preliminary evidence supporting the role of TOX, ADIPOQ and BDNF in weight and WHR gain induced by atypical antipsychotics. PMID:28327672

  8. A COMPARISON OF MELANCHOLIC AND NONMELANCHOLIC RECURRENT MAJOR DEPRESSION IN HAN CHINESE WOMEN

    PubMed Central

    Sun, Ning; Li, Yihan; Cai, Yiyun; Chen, Jing; Shen, Yuan; Sun, Jing; Zhang, Zheng; Zhang, Jiulong; Wang, Lina; Guo, Liyang; Yang, Lei; Qiang, Li; Yang, Yanchun; Wang, Gang; Du, Bo; Xia, Jing; Rong, Han; Gan, Zhaoyu; Hu, Bin; Pan, Jiyang; Li, Chang; Sun, Shufan; Han, Wei; Xiao, Xue; Dai, Lei; Jin, Guixing; Zhang, Yutang; Sun, Lixin; Chen, Yunchun; Zhao, Haiying; Dang, Yamei; Shi, Shenxun; Kendler, Kenneth S; Flint, Jonathan; Zhang, Kerang

    2012-01-01

    Background Although the diagnosis of melancholia has had a long history, the validity of the current DSM-IV definition remains contentious. We report here the first detailed comparison of melancholic and nonmelancholic major depression (MD) in a Chinese population examining in particular whether these two forms of MD differ quantitatively or qualitatively. Methods DSM-IV criteria for melancholia were applied to 1,970 Han Chinese women with recurrent MD recruited from 53 provincial mental health centers and psychiatric departments of general medical hospitals in 41 cities. Statistical analyses, utilizing Student's t-tests and Pearson's χ2, were calculated using SPSS 13.0. Results Melancholic patients with MD were distinguished from nonmelancholic by being older, having a later age at onset, more episodes of illness and meeting more A criteria. They also had higher levels of neuroticism and rates of lifetime generalized anxiety disorder, panic disorder, and social and agoraphobia. They had significantly lower rates of childhood sexual abuse but did not differ on other stressful life events or rates of MD in their families. Discussion Consistent with most prior findings in European and US populations, we find that melancholia is a more clinically severe syndrome than nonmelancholic depression with higher rates of comorbidity. The evidence that it is a more “biological” or qualitatively distinct syndrome, however, is mixed. PMID:22065498

  9. Serum trace element differences between Schizophrenia patients and controls in the Han Chinese population.

    PubMed

    Cai, Lei; Chen, Tianlu; Yang, Jinglei; Zhou, Kejun; Yan, Xiaomei; Chen, Wenzhong; Sun, Liya; Li, Linlin; Qin, Shengying; Wang, Peng; Yang, Ping; Cui, Donghong; Burmeister, Margit; He, Lin; Jia, Wei; Wan, Chunling

    2015-10-12

    Little is known about the trace element profile differences between Schizophrenia patients and healthy controls; previous studies about the association of certain elements with Schizophrenia have obtained conflicting results. To identify these differences in the Han Chinese population, inductively coupled plasma-mass spectrometry was used to quantify the levels of 35 elements in the sera of 111 Schizophrenia patients and 110 healthy participants, which consisted of a training (61/61 for cases/controls included) and a test group including remaining participants. An orthogonal projection to latent structures model was constructed from the training group (R(2)Y = 0.465, Q(2)cum = 0.343) had a sensitivity of 76.0% and a specificity of 71.4% in the test group. Single element analysis indicated that the concentrations of cesium, zinc, and selenium were significantly reduced in patients with Schizophrenia in both the training and test groups. The meta-analysis including 522 cases and 360 controls supported that Zinc was significantly associated with Schizophrenia (standardized mean difference [SMD], -0.81; 95% confidence intervals [CI], -1.46 to -0.16, P = 0.01) in the random-effect model. Information theory analysis indicated that Zinc could play roles independently in Schizophrenia. These results suggest clear element profile differences between patients with Schizophrenia and healthy controls, and reduced Zn level is confirmed in the Schizophrenia patients.

  10. Vitalism and synthesis of urea. From Friedrich Wöhler to Hans A. Krebs.

    PubMed

    Kinne-Saffran, E; Kinne, R K

    1999-01-01

    In 1828, Friedrich Wöhler, a German physician and chemist by training, published a paper that describes the formation of urea, known since 1773 to be a major component of mammalian urine, by combining cyanic acid and ammonium in vitro. In these experiments the synthesis of an organic compound from two inorganic molecules was achieved for the first time. These results weakened significantly the vitalistic hypothesis on the functioning of living cells, although Wöhler, at that time, was more interested in the chemical consequences of isomerism than in the philosophical implications of his finding. However, the chemical synthesis observed by Wöhler does not represent the reaction which is employed in the mammalian liver for urea synthesis. The mechanism of this process was elucidated by the German physician Hans A. Krebs and his medical student Kurt Henseleit in 1932 and was shown to include the ornithine cycle. This 'urea cycle' is only observed in living cells; this apparently vitalistic phenomenon is caused by the compartmentalization of the various enzymatic reactions in mitochondria and cytosol, respectively.

  11. Fyn polymorphisms are associated with distinct personality traits in healthy Chinese-Han subjects.

    PubMed

    Li, Jingying; Ma, Huan; Deng, Shumin; Wu, Lijuan; Huang, Yinglin; Zhu, Gang

    2011-05-01

    The Src family tyrosine kinase Fyn regulates a myriad of neurophysiological processes, including learning and memory. To date, the role of Fyn in the neurological mechanisms that determine personality traits has not been addressed. To this end, we determined the association between the rs706895C/T polymorphism of the Fyn gene (FYN) and personality traits measured by the Tridimensional Personality Questionnaire in 502 healthy Chinese-Han subjects. There were no significant differences in the total scores for novelty seeking (χ² = 5.12, P = 0.077), harm avoidance (HA; χ² = 2.63, P = 0.269), or reward dependence (RD; χ² = 3.94, P = 0.139) among the rs706895C/T genotypes. In sub-item analyses, however, both fear of uncertainty (HA2; χ² = 7.84, P = 0.020) and sentimentality (RD1; χ² = 8.27; P = 0.016) scores were significantly different among rs706895C/T genotypes. Our results suggest that FYN alleles can contribute to the variance in human personality traits.

  12. Affect recognition across manic and euthymic phases of bipolar disorder in Han-Chinese patients.

    PubMed

    Pan, Yi-Ju; Tseng, Huai-Hsuan; Liu, Shi-Kai

    2013-11-01

    Patients with bipolar disorder (BD) have affect recognition deficits. Whether affect recognition deficits constitute a state or trait marker of BD has great etiopathological significance. The current study aims to explore the interrelationships between affect recognition and basic neurocognitive functions for patients with BD across different mood states, using the Diagnostic Analysis of Non-Verbal Accuracy-2, Taiwanese version (DANVA-2-TW) as the index measure for affect recognition. To our knowledge, this is the first study examining affect recognition deficits of BPD across mood states in the Han Chinese population. Twenty-nine manic patients, 16 remitted patients with BD, and 40 control subjects are included in the study. Distinct association patterns between affect recognition and neurocognitive functions are demonstrated for patients with BD and control subjects, implicating alternations in emotion associated neurocognitive processing. Compared to control subjects, manic patients but not remitted subjects perform significantly worse in the recognition of negative emotions as a whole and specifically anger, after adjusting for differences in general intellectual ability and basic neurocognitive functions. Affect recognition deficit may be a relatively independent impairment in BD rather than consequences arising from deficits in other basic neurocognition. The impairments of manic patients in the recognition of negative emotions, specifically anger, may further our understanding of core clinical psychopathology of BD and have implications in treating bipolar patients across distinct mood phases.

  13. SMAD7 loci contribute to risk of hepatocellular carcinoma and clinicopathologic development among Chinese Han population

    PubMed Central

    Lu, Chenying; Song, Jingjing; Chen, Weiqian; Chen, Minjiang; Fan, Xiaoxi; Cheng, Xingyao; Lan, Xilin; Li, Jie

    2016-01-01

    Genome-wide association studies (GWAS) have identified three loci at 18q21 (rs4939827, rs7240004, and rs7229639), which maps to SMAD7 loci, were associated with risk of diseases of the digestive system. However, their associations with hepatocellular carcinoma (HCC) risk remain unknown. A case-control study was conducted to assess genetic associations with HCC risk and clinicopathologic development among Chinese Han population. Three SNPs were genotyped among 1,000 HCC cases and 1,000 controls using Sequenom Mass-ARRAY technology. We observed statistically significant associations for the three SMAD7 loci and HCC risk. Each copy of minor allele was associated with a 1.24–1.36 fold increased risk of HCC. We also found that significant differences were observed between rs4939827 and clinical TNM stage and vascular invasion, as well as rs7240004 and vascular invasion. We also established a genetic risk score (GRS) by summing the risk alleles. The GRS was significantly associated with increased risk of HCC and vascular invasion. Our data revealed the SMAD7 loci is associated with HCC susceptibility and its clinicopathologic development. PMID:26989026

  14. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

    PubMed Central

    Fuh, Jong-Ling; Chern, Chang-Ming; Lee, Wei-Ju; Guo, Yuh-Cherng; Wang, Shuu-Jiun; Lee, I-Hui; Liu, Yo-Tsen; Wang, Yen-Feng; Chang, Feng-Chi; Chang, Ming-Hung; Soong, Bing-Wen; Lee, Yi-Chung

    2015-01-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3–6 and leukoencephalopathy with frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic and phenotypic profiles of CADASIL in Taiwan. One hundred and twelve patients with CADASIL from 95 families of Chinese descents in Taiwan were identified by Sanger sequencing of exons 2 to 24 of NOTCH3. Twenty different mutations in NOTCH3 were uncovered, including 3 novel ones, and R544C in exon 11 was the most common mutation, accounting for 70.5% of the pedigrees. Haplotype analyses were conducted in 14 families harboring NOTCH3 R544C mutation and demonstrated a common haplotype linked to NOTCH3 R544C at loci D19S929 and D19S411. Comparing with CADASIL in most Caucasian populations, CADASIL in Taiwan has several distinct features, including less frequent anterior temporal involvement, older age at symptom onset, higher incidence of intracerebral hemorrhage, and rarer occurrence of migraine. Subgroup analyses revealed that the R544C mutation is associated with lower frequency of anterior temporal involvement, later age at onset and higher frequency of cognitive dysfunction. In conclusion, the present study broadens the spectrum of NOTCH3 mutations and provides additional insights for the clinical and molecular characteristics of CADASIL patients of Han-Chinese descents. PMID:26308724

  15. Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson’s disease

    PubMed Central

    Yuan, Lamei; Song, Zhi; Deng, Xiong; Zheng, Wen; Guo, Yi; Yang, Zhijian; Deng, Hao

    2016-01-01

    Parkinson’s disease (PD) is one of the most common neurodegenerative disorders. Accumulated evidence confirms that genetic factors play a considerable role in PD pathogenesis. To examine whether point variants or haplotypes are associated with PD development, genotyping of 35 variants in 22 PD-related genes was performed in a well-characterized cohort of 512 Han Chinese PD patients and 512 normal controls. Both Pearson’s χ2 test and haplotype analysis were used to evaluate whether variants or their haplotypes were associated with PD in this cohort. The only statistically significant differences in genotypic and allelic frequencies between the patients and the controls were in the DnaJ heat shock protein family (Hsp40) member C10 gene (DNAJC10) variant rs13414223 (P = 0.004 and 0.002, respectively; odds ratio = 0.652, 95% confidence interval: 0.496–0.857). No other variants or haplotypes exhibited any significant differences between these two groups (all corrected P > 0.05). Our findings indicate that the variant rs13414223 in the DNAJC10 gene, a paralog of PD-related genes DNAJC6 and DNAJC13, may play a protective role in PD. This suggests it may be a PD-associated gene. PMID:27653456

  16. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

    PubMed

    Liao, Yi-Chu; Hsiao, Cheng-Tsung; Fuh, Jong-Ling; Chern, Chang-Ming; Lee, Wei-Ju; Guo, Yuh-Cherng; Wang, Shuu-Jiun; Lee, I-Hui; Liu, Yo-Tsen; Wang, Yen-Feng; Chang, Feng-Chi; Chang, Ming-Hung; Soong, Bing-Wen; Lee, Yi-Chung

    2015-01-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic and phenotypic profiles of CADASIL in Taiwan. One hundred and twelve patients with CADASIL from 95 families of Chinese descents in Taiwan were identified by Sanger sequencing of exons 2 to 24 of NOTCH3. Twenty different mutations in NOTCH3 were uncovered, including 3 novel ones, and R544C in exon 11 was the most common mutation, accounting for 70.5% of the pedigrees. Haplotype analyses were conducted in 14 families harboring NOTCH3 R544C mutation and demonstrated a common haplotype linked to NOTCH3 R544C at loci D19S929 and D19S411. Comparing with CADASIL in most Caucasian populations, CADASIL in Taiwan has several distinct features, including less frequent anterior temporal involvement, older age at symptom onset, higher incidence of intracerebral hemorrhage, and rarer occurrence of migraine. Subgroup analyses revealed that the R544C mutation is associated with lower frequency of anterior temporal involvement, later age at onset and higher frequency of cognitive dysfunction. In conclusion, the present study broadens the spectrum of NOTCH3 mutations and provides additional insights for the clinical and molecular characteristics of CADASIL patients of Han-Chinese descents.

  17. Bodily differences?: Gender, race, and class in Hans Sloane's Jamaican medical practice, 1687-1688.

    PubMed

    Churchill, Wendy D

    2005-10-01

    Despite the multitude of seventeenth- and early eighteenth-century British medical publications regarding empire and health, Hans Sloane's A Voyage To the Islands [of] Madera, Barbados, Nieves, S. Christophers and Jamaica (1707) was the first to incorporate significant numbers of female and African patients among its printed case histories. Comprising some sixty-four pages of the introduction, this unique set of records affords scholars the rare opportunity to examine how patients (of both sexes and races, various ages, and all social levels) residing in a "torrid zone" were diagnosed and treated by an English physician during the 1680s. Sloane had expected to encounter illnesses vastly different from those found in England when he arrived in Jamaica, but after practicing medicine in Jamaica for over a year, he concluded that there existed very little difference in the manifestation of illnesses in different climates. Although some ailments were sex-specific and culture-specific, for the most part Sloane transgressed categories of gender and race by diagnosing and treating all his patients according to the same medical ideology. And although it did not directly challenge accepted medical views, Sloane's Voyage revealed incongruities in dealing with such categories within the context of early imperial medicine.

  18. Genetics pathway-based imaging approaches in Chinese Han population with Alzheimer's disease risk.

    PubMed

    Bai, Feng; Liao, Wei; Yue, Chunxian; Pu, Mengjia; Shi, Yongmei; Yu, Hui; Yuan, Yonggui; Geng, Leiyu; Zhang, Zhijun

    2016-01-01

    The tau hypothesis has been raised with regard to the pathophysiology of Alzheimer's disease (AD). Mild cognitive impairment (MCI) is associated with a high risk for developing AD. However, no study has directly examined the brain topological alterations based on combined effects of tau protein pathway genes in MCI population. Forty-three patients with MCI and 30 healthy controls underwent resting-state functional magnetic resonance imaging (fMRI) in Chinese Han, and a tau protein pathway-based imaging approaches (7 candidate genes: 17 SNPs) were used to investigate changes in the topological organisation of brain activation associated with MCI. Impaired regional activation is related to tau protein pathway genes (5/7 candidate genes) in patients with MCI and likely in topologically convergent and divergent functional alterations patterns associated with genes, and combined effects of tau protein pathway genes disrupt the topological architecture of cortico-cerebellar loops. The associations between the loops and behaviours further suggest that tau protein pathway genes do play a significant role in non-episodic memory impairment. Tau pathway-based imaging approaches might strengthen the credibility in imaging genetic associations and generate pathway frameworks that might provide powerful new insights into the neural mechanisms that underlie MCI.

  19. Comparative transcriptome profiling of longissimus muscle tissues from Qianhua Mutton Merino and Small Tail Han sheep

    PubMed Central

    Sun, Limin; Bai, Man; Xiang, Lujie; Zhang, Guishan; Ma, Wei; Jiang, Huaizhi

    2016-01-01

    The Qianhua Mutton Merino (QHMM) is a new sheep (Ovis aries) variety with better meat performance compared with the traditional local variety Small Tail Han (STH) sheep. We aimed to evaluate the transcriptome regulators associated with muscle growth and development between the QHMM and STH. We used RNA-Seq to obtain the transcriptome profiles of the longissimus muscle from the QHMM and STH. The results showed that 960 genes were differentially expressed (405 were up-regulated and 555 were down-regulated). Among these, 463 differently expressed genes (DEGs) were probably associated with muscle growth and development and were involved in biological processes such as skeletal muscle tissue development and muscle cell differentiation; molecular functions such as catalytic activity and oxidoreductase activity; cellular components such as mitochondrion and sarcoplasmic reticulum; and pathways such as metabolic pathways and citrate cycle. From the potential genes, a gene-act-network and co-expression-network closely related to muscle growth and development were identified and established. Finally, the expressions of nine genes were validated by real-time PCR. The results suggested that some DEGs, including MRFs, GXP1 and STAC3, play crucial roles in muscle growth and development processes. This genome-wide transcriptome analysis of QHMM and STH muscle is reported for the first time. PMID:27645777

  20. Efficient taste and odour removal by water treatment plants around the Han River water supply system.

    PubMed

    Ahn, H; Chae, S; Kim, S; Wang, C; Summers, R S

    2007-01-01

    Seven major water treatment plants in Seoul Metropolitan Area, which are under Korea Water Resources Corporation (KOWACO)'s management, take water from the Paldang Reservoir in the Han River System for drinking water supply. There are taste and odour (T&O) problems in the finished water because the conventional treatment processes do not efficiently remove the T&O compounds. This study evaluated T&O removal by ozonation, granular activated carbon (GAC) treatment, powder activated carbon (PAC) and an advanced oxidation process in a pilot-scale treatment plant and bench-scale laboratory experiments. During T&O episodes, PAC alone was not adequate, but as a pretreatment together with GAC it could be a useful option. The optimal range of ozone dose was 1 to 2 mg/L at a contact time of 10 min. However, with ozone alone it was difficult to meet the T&O target of 3 TON and 15 ng/L of MIB or geosmin. The GAC adsorption capacity for DOC in the three GAC systems (F/A, GAC and O3 + GAC) at an EBCT of 14 min is mostly exhausted after 9 months. However, substantial TON removal continued for more than 2 years (>90,000 bed volumes). GAC was found to be effective for T&O control and the main removal mechanisms were adsorption capacity and biodegradation.

  1. Phosphorus release rates from sediments and pollutant characteristics in Han River, Seoul, Korea.

    PubMed

    Kim, Lee-Hyung; Choi, Euiso; Gil, Kyung-Ik; Stenstrom, Michael K

    2004-04-05

    The Han River is 469.7-km long and drains a 26219-km(2) watershed. The sediments in the river are highly polluted due to inputs from upstream tributaries as well as partially treated municipal wastewaters that are discharged to the river. The water quality and strategy for control are important because the river is the primary drinking water supply for the City of Seoul, as well as being a major source for irrigation and industrial water. The Jamsil submerged dam partitions the river to isolate an upstream area for drinking water, but also captures sediments. Samples from four sites were studied to determine sediment pollutant concentrations and phosphorus release rates. Phosphorus tends to desorb from sediments when the concentration of overlying water is less than 1.4 mg/l. Water column P concentrations range from 0.04 to 0.1 mg/l, which suggests that sediments will act as a P source. In a series of batch experiments, P was released at approximately 15-20 mg/m(2)week in the winter (1-5 degrees C) and as much as 90 mg/m(2)week in the summer (20-24 degrees C), and is also a function of pH and dissolved oxygen concentration. The sediment total phosphorus concentration, which averages 833 mg/kg, is evenly distributed among non-apatite-P (33%), apatite-P (32%) and residual-P (34%). An equilibrium model is proposed to describe release rate.

  2. Effects of quercetin on pharmacokinetics of cefprozil in Chinese-Han male volunteers.

    PubMed

    Jia, Fei-Fei; Tan, Zhi-Rong; McLeod, Howard L; Chen, Yao; Ou-Yang, Dong-Sheng; Zhou, Hong-Hao

    2016-10-01

    1. The primary objective of this study was to evaluate the effects of quercetin on the pharmacokinetics of cefprozil. The secondary objective was to evaluate the safety of the combined use of cefprozil and quercetin. 2. An open-label, two-period, crossover phase I trial among 24 Han Chinese male subjects was conducted. Participants were given 500 mg of quercetin orally once daily for 15 d followed by single dose of cefprozil (500 mg) on day 15. Serum concentrations of cefprozil were then measured in all participants on day 15. A 15-d washout period was then assigned after which a 500 mg dose of cefprozil was administered and measured in the serum on day 36. 3. All subjects completed the trial, and no serious adverse events were reported. We measured mean serum concentrations of cefprozil in the presence and absence of quercetin in all participants. The maximum serum concentration of cefprozil in the presence of quercetin was 8.18 ug/ml (95% CI: 7.55-8.81) versus a maximum cefprozil concentration of 8.35 ug/ml (95% CI: 7.51-9.19) in the absence of quercetin. We conclude that the concurrent use of quercetin has no substantial effect on serum concentrations of orally administered cefprozil. 4. Co-administration of quercetin showed no statistically significant effects on the pharmacokinetics of cefprozil in healthy Chinese subjects.

  3. The Human MSI2 Gene is Associated with Schizophrenia in the Chinese Han Population.

    PubMed

    Luan, Zhilin; Lu, Tianlan; Ruan, Yanyan; Yue, Weihua; Zhang, Dai

    2016-06-01

    It has been suggested that altered neurogenesis may be involved in the etiology of schizophrenia, so genes impacting on neurogenesis could be potential candidates for schizophrenia. A member of the Musashi family, the human MSI2 gene plays a substantial role in stem-cell maintenance, asymmetric division, and differentiation during neurogenesis. Our previous genome-wide association study (GWAS) implied an association of MSI2 with schizophrenia in a Han Chinese population. To further explore this association, three single-nucleotide polymorphisms (SNPs), rs9892791, rs11657292, and rs1822381, were selected for a replication study involving 921 schizophrenia cases and 1244 controls. After rigorous Bonferroni correction, two of the SNPs (rs9892791 and rs11657292) displayed significant differences in allele and genotype distribution frequencies between the case and control groups. When our GWAS and replication samples were combined, the three MSI2 SNPs were all strongly associated with schizophrenia (rs9892791: allelic P = 1.07E-5; rs11657292: allelic P = 1.95E-12; rs1822381: allelic P = 1.44E-4). These results indicate that the human MSI2 gene might be a susceptibility gene for schizophrenia and encourage future research on the functional relationship between this gene and schizophrenia.

  4. Oolong tea drinking could help prevent bone loss in postmenopausal Han Chinese women.

    PubMed

    Wang, Guibin; Liu, Guibin; Liu, Liu Hongmei; Zhao, Huanli; Zhang, Fengfang; Li, Shufa; Chen, Yang; Zhang, Zhenchun

    2014-11-01

    The aim of this study was to analyze the relationship between oolong tea drinking and bone mineral density in postmenopausal Han Chinese women, while living and diet habits, fertility, disease elements and other baseline conditions were controlled. One group included 124 cases who routinely drank oolong tea, and the other included 556 who did not drink tea. Data were collected on participant age, lifestyle habits, fertility condition, disease elements, and lumbar, and hip bone densities. It was found that the bone densities of the greater trochanteric bone in tea drinkers were higher (0.793 ± 0.119 kg/cm(2)) than that in non-tea drinkers (0.759 ± 0.116 kg/cm(2), F = 6.248, p = 0.013). Similarly, the bone density of Ward's triangular bone in tea drinkers was higher (0.668 ± 0.133 kg/cm(2)) than that in non-tea drinkers (0.637 ± 0.135 kg/cm(2), F = 6.152, p = 0.013). Oolong tea drinking could help prevent bone loss in postmenopausal Chinese women.

  5. The study on facial soft tissue thickness using Han population in Xinjiang.

    PubMed

    Wang, Jierui; Zhao, Xi; Mi, Congbo; Raza, Iqbal

    2016-09-01

    Facial profile is an important aspect in physical anthropology, forensic science, and cosmetic research. Thus, facial soft tissue measurement technology plays a significant role in facial restoration. A considerable amount of work has investigated facial soft tissue thickness, which significantly varies according to gender, age, and race. However, only few studies have considered the nutritional status of the investigated individuals. Moreover, no sufficient research among Chinese ethnic groups, particularly Xinjiang population in China, is currently available. Hence, the current study investigated the adaptability of facial soft tissue to the underlying hard tissue among young adults of Han population in Xinjiang, China; the analysis was performed on the basis of gender, skeletal class, and body mass index (BMI). Measurements were obtained from the lateral cephalometric radiographs of 256 adults aged 18-26 years old. Differences in soft tissue thickness were observed between genders and among skeletal classes. With regard to gender, significant differences in soft tissue thickness were found at rhinion, glabella, subnasale, stomion, labrale superius, pogonion, and gnathion among different BMI groups. Thus, nutritional status should be considered when reconstructing an individual's facial profile. Results showed that the thinnest and thickest craniofacial soft tissues existed in rhinion and lip regions, respectively. Overall, this research provides valuable data for forensic facial reconstruction and identification of young adults in Xinjiang, China.

  6. Pathway Analysis for Genome-Wide Association Study of Lung Cancer in Han Chinese Population

    PubMed Central

    Wu, Chen; Jin, Guangfu; Dai, Juncheng; Wang, Cheng; Hu, Lingmin; Gou, Jianwei; Qian, Chen; Bai, Jianling; Wu, Tangchun; Hu, Zhibin; Lin, Dongxin; Shen, Hongbing; Chen, Feng

    2013-01-01

    Genome-wide association studies (GWAS) have identified a number of genetic variants associated with lung cancer risk. However, these loci explain only a small fraction of lung cancer hereditability and other variants with weak effect may be lost in the GWAS approach due to the stringent significance level after multiple comparison correction. In this study, in order to identify important pathways involving the lung carcinogenesis, we performed a two-stage pathway analysis in GWAS of lung cancer in Han Chinese using gene set enrichment analysis (GSEA) method. Predefined pathways by BioCarta and KEGG databases were systematically evaluated on Nanjing study (Discovery stage: 1,473 cases and 1,962 controls) and the suggestive pathways were further to be validated in Beijing study (Replication stage: 858 cases and 1,115 controls). We found that four pathways (achPathway, metPathway, At1rPathway and rac1Pathway) were consistently significant in both studies and the P values for combined dataset were 0.012, 0.010, 0.022 and 0.005 respectively. These results were stable after sensitivity analysis based on gene definition and gene overlaps between pathways. These findings may provide new insights into the etiology of lung cancer. PMID:23469231

  7. Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population.

    PubMed

    Gao, Yonghui; Chen, Xiaoli; Shangguan, Shaofang; Bao, Yihua; Lu, Xiaoli; Zou, Jizhen; Guo, Jin; Dai, Yaohua; Zhang, Ting

    2012-07-01

    Partitioning defective 3 homolog (PARD3) is an attractive candidate gene for screening neural tube defect (NTD) risk. To investigate the role of genetic variants in PARD3 on NTD risk, a case-control study was performed in a region of China with a high prevalence of NTDs. Total 53 single-nucleotide polymorphisms (SNPs) in PARD3 were genotyped in 224 fetuses with NTDs and in 253 normal fetuses. We found that 6 SNPs (rs2496720, rs2252655, rs3851068, rs118153230, rs10827337, and rs12218196) were statistically associated with NTDs (P < .05). After stratifying participants by NTD phenotypes, the significant association only existed in cases with anencephaly rather than spina bifida. Further haplotype analysis confirmed the association between PARD3 polymorphisms and NTD risk (global test P = 3.41e-008). Our results suggested that genetic variants in PARD3 were associated with susceptibility to NTDs in a Chinese Han population, and this association was affected by NTD phenotypes.

  8. Adolf Beck: A pioneer in electroencephalography in between Richard Caton and Hans Berger

    PubMed Central

    Coenen, Anton; Zayachkivska, Oksana

    2013-01-01

    Adolf Beck, born in 1863 in Kraków (Poland), joined the Department of Physiology of the Jagiellonian University in 1889, to work directly under the prominent professor in physiology Napoleon Cybulski. Following his suggestion, Beck started studies on the electrical brain activity of animals. He recorded negative electrical potentials in several brain areas evoked by peripheral sensory impulses. Using this technique, Beck localised various centres in the brain of several animal species. In doing this, he discovered continuous electrical oscillations in the electrical brain activity and noted that these oscillations ceased after sensory stimulation. This was the first description of desynchronization in electrical brain potentials. He published these findings in 1890 in the German Centralblatt für Physiologie. Immediately, an intense discussion arose under physiologists on the question who could claim being the founder of electroencephalography. Ultimately, Richard Caton from Liverpool showed that he had performed similar experiments in monkeys years earlier. Nevertheless, Beck added several new elements to the nature of electrical brain activity, such as evoked potentials and desynchronization. In looking back, Adolf Beck can be regarded, next to Richard Caton and together with Hans Berger (who later introduced the electrical brain recording method to humans), as one of the founders of electroencephalography. PMID:24605179

  9. Hans Driesch and the problems of "normal psychology". Rereading his Crisis in Psychology (1925).

    PubMed

    Allesch, Christian G

    2012-06-01

    In 1925, the German biologist and philosopher Hans Driesch published a booklet entitled The Crisis in Psychology. It was originally published in English and was based on lectures given at various universities in China, Japan and the USA. The "crisis" in psychology of that time, in Driesch's opinion, lies in the necessity to decide about "the road which psychology is to follow in the future". This necessity refers to five "critical points", namely (1) to develop the theory of psychic elements to a theory of meaning by phenomenological analysis, (2) the overcoming of association theory, (3) to acknowledge that the unconscious is a fact and a "normal" aspect of mental life, (4) to reject "psychomechanical parallelism" or any other epiphenomenalistic solution of the mind-body problem, and (5) the extension of psychical research to new facts as described by parapsychology, for instance. Driesch saw close parallels between the development of modern psychology and that of biology, namely in a theoretical shift from "sum-concepts" like association and mechanics, to "totality-concepts" like soul and entelechy. The German translation of 1926 was entitled Grundprobleme der Psychologie (Fundamental Problems of Psychology) while "the crisis in psychology" forms just the subtitle of this book. This underlines that Driesch's argumentation--in contrast to that of Buehler--dealt with ontological questions rather than with paradigms.

  10. Making space for criminalistics: Hans Gross and fin-de-siècle CSI

    PubMed Central

    Burney, Ian; Pemberton, Neil

    2013-01-01

    This article explores the articulation of a novel forensic object—the ‘crime scene’—and its corresponding expert—the investigating officer. Through a detailed engagement with the work of the late nineteenth-century Austrian jurist and criminalist Hans Gross, it analyses the dynamic and reflexive nature of this model of ‘CSI’, emphasising the material, physical, psychological and instrumental means through which the crime scene as a delineated space, and its investigator as a disciplined agent operating within it, jointly came into being. It has a further, historiographic, aim: to move away from the commonplace emphasis in histories of forensics on fin-de-siècle criminology and toward its comparatively under-explored contemporary, criminalistics. In so doing, it opens up new ways of thinking about the crime scene as a defining feature of our present-day forensic culture that recognise its historical contingency and the complex processes at work in its creation and development. PMID:23036861

  11. Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia.

    PubMed

    Bi, Rui; Tang, Jinsong; Zhang, Wen; Li, Xiao; Chen, Shi-Yi; Yu, Dandan; Chen, Xiaogang; Yao, Yong-Gang

    2016-03-01

    The relationship between mitochondrial DNA (mtDNA) variants and schizophrenia has been strongly debated. To test whether mtDNA variants are involved in schizophrenia in Han Chinese patients, we sequenced the entire mitochondrial genomes of probands from 11 families with a family history and maternal inheritance pattern of schizophrenia. Besides the haplogroup-specific variants, we found 11 nonsynonymous private variants, one rRNA variant, and one tRNA variant in 5 of 11 probands. Among the nonsynonymous private variants, mutations m.15395 A>G and m.8536 A>G were predicted to be deleterious after web-based searches and in silico program affiliated analysis. Functional characterization further supported the potential pathogenicity of the two variants m.15395 A>G and m.8536 A>G to cause mitochondrial dysfunction at the cellular level. Our results showed that mtDNA variants were actively involved in schizophrenia in some families with maternal inheritance of this disease.

  12. Predictive markers for carbamazepine and lamotrigine-induced maculopapular exanthema in Han Chinese.

    PubMed

    Li, Li-Juan; Hu, Fa-Yun; Wu, Xin-Tong; An, Dong-Mei; Yan, Bo; Zhou, Dong

    2013-09-01

    The aims of this study were to clarify the possible associations of carbamazepine (CBZ)- and lamotrigine (LTG)-induced maculopapular exanthema (MPE) with the human leukocyte antigen (HLA) alleles in Chinese patients. A total of 249 subjects, including 40 patients with CBZ-induced MPE (CBZ-MPE), 43 patients with LTG-induced MPE (LTG-MPE), 52 CBZ-tolerant controls, 42 LTG-tolerant controls and 72 healthy controls, were included in this study. High-resolution HLA genotyping was performed by a specific kit. Differences in the allele frequencies among the groups were assessed. The allele frequencies of HLA-A*0201 and HLA-DRB1*1405 were significantly higher (P=0.033 and P=0.003, respectively), but those of HLA-B*5801 and HLA-DRB1*0301 (P=0.037 and P=0.024, respectively) were lower in the CBZ-MPE patients when compared with the CBZ-tolerant group. We also observed two significantly increased alleles of HLA-A*3001 and HLA-B*1302 (P=0.013 and P=0.013, respectively) and a decreased allele of HLA-A*3303 (P=0.048) in the LTG-MPE patients when compared with those in the LTG-tolerant group. Our results support the hypothesis that these HLA alleles contribute to the genetic susceptibility to CBZ/LTG-MPE and may be valuable as potential biomarkers for CBZ/LTG-MPE in Han Chinese.

  13. The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.

    PubMed

    Lu, Chuncheng; Zhang, Feng; Xia, Yankai; Wu, Bin; Gu, Aihua; Lu, Ningxia; Wang, Shoulin; Shen, Hongbing; Jin, Li; Wang, Xinru

    2007-01-01

    A significant proportion of male infertility is accompanied by an abnormal semen analysis, azoospermia or severe oligozoospermia, which is generally assumed to be the result of spermatogenic failure. The genetic contribution in the process of spermatogenesis, particularly the role of the Y chromosome in determination of semen quality, is still obscure. In order to explore the relationship between Y chromosome haplogroup and spermatogenic failure, we collected 285 idiopathic infertile males with azoo-/oligozoospermia and 515 fertile men, adopted 12 binary markers and recruited the subjects (cases and controls) in the same region to test whether there is a possible susceptibility of certain Y haplogroups to spermatogenic failure in the Han Chinese population. The results indicated that the prevalences of hg K in the control and the case population were 0.78% (4/515) and 2.80% (8/285), respectively. The difference between the frequencies of the hg K in the infertile males and the normal control population was significant [odds ratio (OR) = 3.69; 95% confidence interval (CI) = 1.10-12.36] (P = 0.028). However, in the other haplogroups no significant differences were found. In conclusion, Y haplogroup-K might bear a risk factor of male infertility, and the individuals in the haplogroup need to be further examined.

  14. Ancient DNA Reveals That the Genetic Structure of the Northern Han Chinese Was Shaped Prior to 3,000 Years Ago

    PubMed Central

    Zhang, Quan-Chao; Li, Hong-Jie; Cui, Ying-Qiu; Xu, Zhi; Jin, Li; Zhou, Hui; Zhu, Hong

    2015-01-01

    The Han Chinese are the largest ethnic group in the world, and their origins, development, and expansion are complex. Many genetic studies have shown that Han Chinese can be divided into two distinct groups: northern Han Chinese and southern Han Chinese. The genetic history of the southern Han Chinese has been well studied. However, the genetic history of the northern Han Chinese is still obscure. In order to gain insight into the genetic history of the northern Han Chinese, 89 human remains were sampled from the Hengbei site which is located in the Central Plain and dates back to a key transitional period during the rise of the Han Chinese (approximately 3,000 years ago). We used 64 authentic mtDNA data obtained in this study, 27 Y chromosome SNP data profiles from previously studied Hengbei samples, and genetic datasets of the current Chinese populations and two ancient northern Chinese populations to analyze the relationship between the ancient people of Hengbei and present-day northern Han Chinese. We used a wide range of population genetic analyses, including principal component analyses, shared mtDNA haplotype analyses, and geographic mapping of maternal genetic distances. The results show that the ancient people of Hengbei bore a strong genetic resemblance to present-day northern Han Chinese and were genetically distinct from other present-day Chinese populations and two ancient populations. These findings suggest that the genetic structure of northern Han Chinese was already shaped 3,000 years ago in the Central Plain area. PMID:25938511

  15. Common and rare exonic MUC5B variants associated with type 2 diabetes in Han Chinese

    PubMed Central

    Zhang, Zhenjian; Adebamowo, Sally N.; Liu, Guozheng; Adeyemo, Adebowale; Zhou, Yanxun; Doumatey, Ayo P.; Wang, Chuntao; Zhou, Jie; Yan, Wenqiang; Shriner, Daniel; Tekola-Ayele, Fasil; Bentley, Amy R.; Jiang, Congqing; Rotimi, Charles N.

    2017-01-01

    Genome-wide association studies have identified over one hundred common genetic risk variants associated with type 2 diabetes (T2D). However, most of the heritability of T2D has not been accounted for. In this study, we investigated the contribution of rare and common variants to T2D susceptibility by analyzing exome array data in 1,908 Han Chinese genotyped with Affymetrix Axiom® Exome Genotyping Arrays. Based on the joint common and rare variants analysis of 57,704 autosomal SNPs within 12,244 genes using Sequence Kernel Association Tests (SKAT), we identified significant associations between T2D and 25 variants (9 rare and 16 common) in MUC5B, p-value 1.01×10−14. This finding was replicated (p = 0.0463) in an independent sample that included 10,401 unrelated individuals. Sixty-six of 1,553 possible haplotypes based on 25 SNPs within MUC5B showed significant association with T2D (Bonferroni corrected p values < 3.2×10−5). The expression level of MUC5B is significantly higher in pancreatic tissues of persons with T2D compared to those without T2D (p-value = 5×10−5). Our findings suggest that dysregulated MUC5B expression may be involved in the pathogenesis of T2D. As a strong candidate gene for T2D, MUC5B may play an important role in the mechanisms underlying T2D etiology and its complications. PMID:28346466

  16. The role of mitochondrial genome in essential hypertension in a Chinese Han population.

    PubMed

    Zhu, Hai-Yan; Wang, Shi-Wen; Martin, Lisa J; Liu, Li; Li, Yan-Hua; Chen, Rui; Wang, Lin; Zhang, Min-Lu; Benson, D Woodrow

    2009-11-01

    Earlier genetic studies of essential hypertension have focused on nuclear genes or family-based mitochondrial screening in Caucasian and African-American pedigrees. The role of mitochondria in sporadic Chinese hypertensives is unknown. We sequenced mitochondrial genomes in 306 age- and gender-balanced Chinese Han hypertensives and controls. In 153 hypertensives, putative functional changes included 4 changes in rRNA genes, 11 changes in tRNA genes and 25 amino-acid substitutions. The remaining variants were synonymous changes or non-coding regions. In the 153 controls, 2 base changes in the tRNA genes and 13 amino-acid substitutions were found. A8701G in ATP6 gene (belongs to haplogroup M; P=0.0001) and C8414T in ATP8 gene (belongs to haplogroup D; P=0.01) were detected significantly different in the cases and controls. Interestingly, the cases were more likely to have two or more amino-acid changes and RNA variants compared with the controls (57.43 versus 23.81%, P=0.0001). In addition, several variants we found were highly conserved and/or specifically located at the 3' end adjacent to the anticodon, which may contribute to the stabilization of structure, and thus lead to the decrease of tRNA metabolism. In conclusion, mitochondrial SNPs (mtSNPs) may affect the course of hypertension in sporadic Chinese hypertensives. Some specific mtSNP within mitochondria may have potential role in the Chinese hypertensives due to their function. Synergetic interaction between mitochondrial mtSNPs and/or haplogroups is needed to be investigated in the future.

  17. Prevalence of the HPA-18w to -21w alleles in the Chinese Han population.

    PubMed

    Liu, Y; Hong, X; Xu, X; Ying, Y; He, J; Zhu, F; Lv, H; Yan, L

    2013-04-01

    Recently, four new platelet alloantigen (HPA) systems HPA-18w to-21w were identified. However, genotyping for HPA-18w to -21w alleles was rarely reported. Here, we established a polymerase chain reaction sequence-based typing (PCR-SBT) method and investigated the distribution of HPA-18w to -21w alleles in the Chinese Han population. The specific primers of HPA-18w, -19w, -20w and -21w were designed, and the PCR products were bidirectionally sequenced. 855 randomly selected platelet donors were genotyped for HPA-18w to -21w with the PCR-SBT method. The results showed that all individuals were monomorphic for HPA-18w to HPA-20w with a/a homozygous frequency of 1.0 and absence of HPA-18bw to -20bw alleles. The frequencies of the HPA-21a/21a and HPA-21a/21b genotypes were 0.981(839/855) and 0.019(16/855), respectively. Seven mutations were confirmed on sequenced region separate from HPA polymorphisms, including ITGA2 (IVS17+48G>A and IVS17+72G>A), ITGA2B (IVS19-26C>G) and ITGB3 (IVS4+234C>T, IVS11-19 T>C, IVS11-104T>C and GT repeats from IVS11-131 to IVS11-109). These data will provide useful information for diagnosis, prevention and treatment of alloimmune thrombocytopaenia.

  18. The CD226 gene in susceptibility of rheumatoid arthritis in the Chinese Han population.

    PubMed

    Du, Yan; Shen, Ling-Xun; Yu, Li-Kai; Song, You; Zhu, Jian-Fang; Du, Rong

    2012-05-01

    Recent case-control studies have identified some loci that are associated with rheumatoid arthritis (RA). Among these, a single nucleotide polymorphism (SNP), Gly307Ser (rs763361), in the CD226 gene was first discovered to confer the risk of RA in populations with European and Colombian ancestry. Because the effect of genetic factors varies in different races, the association between RA and CD226 is yet to be evaluated in other non-European populations. Here, we report the significant association between CD226 and RA in a Chinese population of 423 randomly enrolled individuals. The statistical results show that the rs763361 SNP in the CD226 gene is significantly associated with RA in the Chinese population group (P (obs) = 0.005, odds ratio = 1.52). After adjusting for sex and age using multivariate logistics regression analysis, the association is still positive (P (adj) = 0.029, odds ratio = 1.45). Meta-analysis confirms the association between rs763361 and RA (overall P < 0.001, overall odds ratio = 1.12). The test of odds ratio heterogeneity also suggests that the rs763361 SNP confers the same risk of RA in both the Chinese and the Colombian populations, and indicates that rs763361 may play a more important role in non-European populations compared with the European population (P = 0.031). These results demonstrate a genetic association between the CD226 gene and RA in a Chinese Han population with a potentially greater genetic effect than in the European population.

  19. The effect of geographical indices on left ventricular structure in healthy Han Chinese population

    NASA Astrophysics Data System (ADS)

    Cen, Minyi; Ge, Miao; Liu, Yonglin; Wang, Congxia; Yang, Shaofang

    2016-07-01

    The left ventricular posterior wall thickness (LVPWT) and interventricular septum thickness (IVST) are generally regarded as the functional parts of the left ventricular (LV) structure. This paper aims to examine the effects of geographical indices on healthy Han adults' LV structural indices and to offer a scientific basis for developing a unified standard for the reference values of adults' LV structural indices in China. Fifteen terrain, climate, and soil indices were examined as geographical explanatory variables. Statistical analysis was performed using correlation analysis. Moreover, a back propagation neural network (BPNN) and a support vector regression (SVR) were applied to developing models to predict the values of two indices. After the prediction models were built, distribution maps were produced. The results show that LV structural indices are characteristically associated with latitude, longitude, altitude, average temperature, average wind velocity, topsoil sand fraction, topsoil silt fraction, topsoil organic carbon, and topsoil sodicity. The model test analyses show the BPNN model possesses better simulative and predictive ability in comparison with the SVR model. The distribution maps of the LV structural indices show that, in China, the values are higher in the west and lower in the east. These results demonstrate that the reference values of the adults' LV structural indices will be different affected by different geographical environment. The reference values of LV structural indices in one region can be calculated by setting up a BPNN, which showed better applicability in this study. The distribution of the reference values of the LV structural indices can be seen clearly on the geographical distribution map.

  20. Reproductive senescence, fertility and reproductive tumour profile in ageing female Han Wistar rats.

    PubMed

    Mitchard, Terri L; Klein, Stephanie

    2016-01-01

    A study using vehicle administration in 104 female rats investigated reproductive aging in Han Wistar rats as a useful tool to interprete carcinogenicity studies where hormonal patterns are perturbated. From 16 weeks of age oestrous cycles were monitored every 6 weeks to investigate reproductive ageing. A subset of 20 females was used to assess fertility at 21 months of age. The animals were necropsied after 106-107 weeks on study and female reproductive organs, mammary glands and pituitary glands were examined for hyperplasias and/or tumours. The majority of rats had regular oestrous cycles up to 6 months of age. After this age, there was a rapid decline in the number of rats with regular oestrous cycles and an increase in irregular cycles and cycles in persistent di-oestrus with an occasional pro-oestrus. By the end of the study, the majority of animals were acyclic and the few remaining cyclic animals had irregular cycles. In the fertility assessment, 19/20 animals mated but only four animals became pregnant. These pregnant animals had normal numbers of corpora lutea of pregnancy but had high pre-implantation losses and could not sustain a viable pregnancy. 65 animals (62.5%) showed adenomas and/or pituitary hyperplasia in the pituitary gland at necropsy. The pituitary tumours were likely to be prolactin secreting that give rise to pseudopregnancy and mammary tumours, demonstrated by the fact that 43/65 (66%) of the affected animals had histopathological signs of these conditions. Multiple corpora lutea were found in 61% of all animals at time of termination. Only one uterine tumour was seen in this study probably due to lack of persistent oestrus seen in these animals.

  1. Genome-Wide Association Study of Treatment Refractory Schizophrenia in Han Chinese

    PubMed Central

    Chiang, Hung-Lun; Chen, Cheng-Chung; Lin, Ching-Hua; Chung, Ming-Shun; Kuo, Chien-Cheng; Liao, Ding-Lieh; Wu, Ching-Kuan; Liu, Chih-Min; Liu, Yu-Li; Hwu, Hai-Gwo; Lai, I-Ching; Tsai, Shih-Jen; Chen, Chia-Hsiang; Liu, Hui-Fen; Chou, Yi-Chun; Chen, Chien-Hsiun; Chen, Yuan-Tsong; Hong, Chen-Jee; Wu, Jer-Yuarn

    2012-01-01

    We report the first genome-wide association study of a joint analysis using 795 Han Chinese individuals with treatment-refractory schizophrenia (TRS) and 806 controls. Three loci showed suggestive significant association with TRS were identified. These loci include: rs10218843 (P = 3.04×10−7) and rs11265461 (P = 1.94×10−7) are adjacent to signaling lymphocytic activation molecule family member 1 (SLAMF1); rs4699030 (P = 1.94×10−6) and rs230529 (P = 1.74×10−7) are located in the gene nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1); and rs13049286 (P = 3.05×10−5) and rs3827219 (P = 1.66×10−5) fall in receptor-interacting serine/threonine-protein kinase 4 (RIPK4). One isolated single nucleotide polymorphism (SNP), rs739617 (P = 3.87×10−5) was also identified to be associated with TRS. The -94delATTG allele (rs28362691) located in the promoter region of NFKB1 was identified by resequencing and was found to associate with TRS (P = 4.85×10−6). The promoter assay demonstrated that the -94delATTG allele had a significant lower promoter activity than the -94insATTG allele in the SH-SY5Y cells. This study suggests that rs28362691 in NFKB1 might be involved in the development of TRS. PMID:22479419

  2. Hans A. Bethe Prize: Neutron Stars and Core-Collapse Supernovae

    NASA Astrophysics Data System (ADS)

    Lattimer, James

    2015-04-01

    Core-collapse supernovae lead to the formation of neutron stars, and both are sensitive to the dense matter equation of state. Hans Bethe first recognized that the matter in the collapsing core of a massive star has a relatively low entropy which prevents nuclear dissociation until nuclei merge near the nuclear saturation density. This recognition means that collapse continues until the core exceeds the saturation density. This prediction forms the foundation for modern simulations of supernovae. These supernovae sample matter up to about twice nuclear saturation density, but neutron stars are sensitive to the equation of state both near the saturation density and at several times higher densities. Two important recent developments are the discovery of two-solar mass neutron stars and refined experimental determinations of the behavior of the symmetry energy of nuclear matter near the saturation density. Combined with the assumption of causality, they imply that the radii of observed neutron stars are largely independent of their mass, and that this radius is in the range of 11 to 13 km. These theoretical results are not only consistent with expectations from theoretical studies of pure neutron matter, but also accumulated observations of both bursting and cooling neutron stars. In the near future, new pulsar timing data, which could lead to larger measured masses as well as measurements of moments of inertia, X-ray observations, such as from NICER, of bursting and other sources, and gravitational wave observations of neutron stars in merging compact binaries, will provide important new constraints on neutron stars and the dense matter equation of state. DOE DE-FG02-87ER-40317.

  3. Serum apolipoprotein E concentration and polymorphism influence serum lipid levels in Chinese Shandong Han population.

    PubMed

    Han, ShuYi; Xu, YiHui; Gao, MeiHua; Wang, YunShan; Wang, Jun; Liu, YanYan; Wang, Min; Zhang, XiaoQian

    2016-12-01

    Apolipoprotein E (ApoE), which has been shown to influence serum lipid parameters, can bind to multiple types of lipids and plays an important role in the metabolism and homeostasis of lipids and lipoproteins. A previous study showed that ApoE concentration significantly affects serum lipid levels independently of ApoE polymorphism. The serum lipid levels were also closely correlated with dietary habits, and Shandong cuisine is famous for its high salt and oil contents, which widely differ among the different areas in China. Therefore, studying the effect of ApoE polymorphism on ApoE concentration and serum lipid levels in Shandong province is very important.A total of 815 subjects including 285 men and 530 women were randomly selected and studied from Jinan, Shandong province. In order to evaluate the association of ApoE polymorphism and serum level on lipid profiles, the ApoE genotypes, as well as levels of fasting serum ApoE and other lipid parameters, were detected in all subjects.The frequency of the ApoE E3 allele was highest (83.1%), while those of E2 and E4 were 9.4% and 7.5%, respectively, which are similar to those in other Asian populations. ApoE2 allele carriers showed significantly increased ApoE levels but lower levels of serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and Apolipoprotein B (ApoB).We found that ApoE level is influenced by ApoE polymorphism in a gene-dependent manner. The ApoE polymorphism showed different influences on serum lipid parameters with increasing age and body mass index (BMI) in our Shandong Han population.

  4. Serum apolipoprotein E concentration and polymorphism influence serum lipid levels in Chinese Shandong Han population

    PubMed Central

    Han, ShuYi; Xu, YiHui; Gao, MeiHua; Wang, YunShan; Wang, Jun; Liu, YanYan; Wang, Min; Zhang, XiaoQian

    2016-01-01

    Abstract Apolipoprotein E (ApoE), which has been shown to influence serum lipid parameters, can bind to multiple types of lipids and plays an important role in the metabolism and homeostasis of lipids and lipoproteins. A previous study showed that ApoE concentration significantly affects serum lipid levels independently of ApoE polymorphism. The serum lipid levels were also closely correlated with dietary habits, and Shandong cuisine is famous for its high salt and oil contents, which widely differ among the different areas in China. Therefore, studying the effect of ApoE polymorphism on ApoE concentration and serum lipid levels in Shandong province is very important. A total of 815 subjects including 285 men and 530 women were randomly selected and studied from Jinan, Shandong province. In order to evaluate the association of ApoE polymorphism and serum level on lipid profiles, the ApoE genotypes, as well as levels of fasting serum ApoE and other lipid parameters, were detected in all subjects. The frequency of the ApoE E3 allele was highest (83.1%), while those of E2 and E4 were 9.4% and 7.5%, respectively, which are similar to those in other Asian populations. ApoE2 allele carriers showed significantly increased ApoE levels but lower levels of serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and Apolipoprotein B (ApoB). We found that ApoE level is influenced by ApoE polymorphism in a gene-dependent manner. The ApoE polymorphism showed different influences on serum lipid parameters with increasing age and body mass index (BMI) in our Shandong Han population. PMID:27977609

  5. Vitamin D receptor gene polymorphism and its association with Parkinson's disease in Chinese Han population.

    PubMed

    Han, Xun; Xue, Li; Li, Yongsheng; Chen, Biao; Xie, Anmu

    2012-09-06

    Vitamin D plays an important role in neurodegenerative disorders as a crucial neuro-immunomodulator, and accumulating data have provided evidence for that vitamin D receptor (VDR) gene is a candidate gene for susceptibility to Parkinson's disease (PD). In this study, we performed a case-control study to demonstrate whether the risk for the development of onset of sporadic PD might be influenced by VDR gene polymorphisms in a Chinese cohort. Two hundred and sixty PD patients and 282 matched-healthy controls were genotyped for two representative single nucleotide polymorphisms (SNPs) in VDR gene (FokI C/T and BsmI G/A) by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis in. Results from our study revealed that FokI C allele carriers were likely to associate with an increased risk of PD (P=0.004) as well as early-onset PD (EOPD) (P=0.010). Moreover, the frequency of FokI C allele was significantly increased in PD group and late-onset PD (LOPD) group relative to the control groups respectively (P=0.023 and P=0.033, respectively). For BsmI polymorphisms, no significant difference in genotype or allele distribution was found between PD patients and the controls, as well as gender- and age-related differences between PD patients and the controls subgroup. This study demonstrated a possible association between the VDR FokI T/C polymorphism and PD, indicating that VDR polymorphisms may well change genetic susceptibility to sporadic PD in a Han Chinese population.

  6. Association of VEGF gene polymorphisms with sporadic Parkinson's disease in Chinese Han population.

    PubMed

    Wu, Yubin; Zhang, Yingying; Han, Xun; Li, Xiaoyuan; Xue, Li; Xie, Anmu

    2016-12-01

    Recent evidence indicates that vascular endothelial growth factor (VEGF) is capable of protecting dopaminergic (DA) neurons. Parkinson's disease (PD) is a progressive neurodegenerative disease caused by the degeneration of nigrostriatal dopaminergic neurons. To evaluate the role of VEGF single nucleotide polymorphisms (SNPs) and haplotypes in PD, we performed a case-control study including 400 PD patients and 400 healthy-matched controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing were used to detect the rs699947, rs2010963 and rs3025039 polymorphisms of the VEGF gene in cases and controls. Our study revealed that T allelic frequency of rs3025039 polymorphism was significantly higher in PD subjects (OR 1.497, 95 % CI 1.099-2.040, P = 0.013) than that in controls. Significant association for rs3025039 could be found in additive model (TT vs. CT vs. CC: OR 1.489, 95 % CI 1.018-2.177, P = 0.040) and dominant model (TT + CT vs. CC: OR 1.538, 95 % CI 1.068-2.216, P = 0.021). Subgroup analyses performed by gender suggested that this association could be found in male, but not in female. Moreover, it also demonstrated a significant association in the subgroup of late-onset PD (LOPD). However, for rs699947 and rs2010963 polymorphisms, genotype or allele frequencies did not differ between groups. No significant association could be found between rs699947 and rs2010963 polymorphism and PD risk. None of the observed haplotypes showed significant association with PD. Therefore, these results suggested that the VEGF gene might be associated with risk of developing sporadic PD in Han Chinese and the rs3025039 polymorphism may be a risk factor for sporadic PD.

  7. The effect of geographical indices on left ventricular structure in healthy Han Chinese population

    NASA Astrophysics Data System (ADS)

    Cen, Minyi; Ge, Miao; Liu, Yonglin; Wang, Congxia; Yang, Shaofang

    2017-02-01

    The left ventricular posterior wall thickness (LVPWT) and interventricular septum thickness (IVST) are generally regarded as the functional parts of the left ventricular (LV) structure. This paper aims to examine the effects of geographical indices on healthy Han adults' LV structural indices and to offer a scientific basis for developing a unified standard for the reference values of adults' LV structural indices in China. Fifteen terrain, climate, and soil indices were examined as geographical explanatory variables. Statistical analysis was performed using correlation analysis. Moreover, a back propagation neural network (BPNN) and a support vector regression (SVR) were applied to developing models to predict the values of two indices. After the prediction models were built, distribution maps were produced. The results show that LV structural indices are characteristically associated with latitude, longitude, altitude, average temperature, average wind velocity, topsoil sand fraction, topsoil silt fraction, topsoil organic carbon, and topsoil sodicity. The model test analyses show the BPNN model possesses better simulative and predictive ability in comparison with the SVR model. The distribution maps of the LV structural indices show that, in China, the values are higher in the west and lower in the east. These results demonstrate that the reference values of the adults' LV structural indices will be different affected by different geographical environment. The reference values of LV structural indices in one region can be calculated by setting up a BPNN, which showed better applicability in this study. The distribution of the reference values of the LV structural indices can be seen clearly on the geographical distribution map.

  8. Spatial analysis of water quality trends in the Han River basin, South Korea.

    PubMed

    Chang, Heejun

    2008-07-01

    Spatial patterns of water quality trends for 118 sites in the Han River basin of South Korea were examined for eight parameters-temperature, pH, dissolved oxygen (DO), biochemical oxygen demand (BOD), chemical oxygen demand (COD), suspended sediment (SS), total phosphorus (TP), and total nitrogen (TN). A non-parametric seasonal Mann-Kendall's test determined the significance of trends for each parameter for each site between 1993 and 2002. There are no significant trends in temperature, but TN concentrations increased for the majority of the monitoring stations. DO, BOD, COD, pH, SS, and TP show increasing or decreasing trends with approximately half of the stations exhibiting no trends. Urban land cover is positively associated with increases in water pollution and included as an important explanatory variable for the variations in all water quality parameters except pH. Topography and soil factors further explain the spatial variations in pH, COD, BOD, and SS. BOD, COD, SS, and TP variations are consistently better explained by 100m buffer scale analysis, but DO are better explained by the whole basin scale analysis. Local water quality management or geology could further explain some variations of water quality. Non-point-source pollution exhibits strong positive spatial autocorrelation as measured by Moran's I, indicating that the incorporation of spatial dimensions into water quality assessment enhances our understanding of spatial patterns of water quality. The spatial regression models, compared to ordinary least square (OLS) models, always better explain the variations in water quality. This study suggests that spatial analysis of watershed data at different scales should be a vital part of identifying the fundamental spatio-temporal distribution of water quality.

  9. Anthropogenic rare earth elements and their spatial distributions in the Han River, South Korea.

    PubMed

    Song, Hyeongseok; Shin, Woo-Jin; Ryu, Jong-Sik; Shin, Hyung Seon; Chung, Heesun; Lee, Kwang-Sik

    2017-04-01

    Rare earth elements (REE) consist of lanthanides (from La to Lu), together with yttrium and scandium, in which anthropogenic REE, such as gadolinium (Gd), lanthanum (La), and samarium (Sm), has emerged as micro-contaminants in natural waters in highly developed countries. Here, we collected water samples in the Han River (HR) and its tributaries flowing through Seoul Capital Area, the world's second largest metropolitan area in order to examine how and to what extent anthropogenic REE anomalies may occur. Water samples show higher light REE concentrations than heavy REE concentrations, while wastewater treatment plant (WWTP) samples display much higher heavy REE concentrations due to high Gd concentration. The PAAS-normalized REE patterns indicate that WWTP samples display the pronounced positive Gd anomalies, in which anthropogenic Gd from magnetic resonance imaging (MRI) diagnostic system occurs as a form of Gd complexation with either Cl(-) or SO4(2-). Due to the WWTP, both the HR and tributaries show also positive Gd anomalies and the anthropogenic Gd concentrations increase as a function of the distance from the Paldang dam. This result indicates a positive correlation between populaton, number of MRI instruments, and positive Gd anomaly. Similarly, positive La and Sm anomalies exist in the HR, indicating that the HR is also affected by their point sources. Based on the discharge rate and anthropogenic REE concentrations, their fluxes are estimated to be 952 ± 319 kg/yr, suggesting that this amount of fluxes could disturb REE distribution in the Yellow Sea, and pose harmful effects on aquatic ecosystems.

  10. Multiple epigenetic factors predict the attention deficit/hyperactivity disorder among the Chinese Han children.

    PubMed

    Xu, Yi; Chen, Xiang-Tao; Luo, Man; Tang, Yuqing; Zhang, Guangxiang; Wu, De; Yang, Bin; Ruan, Di-Yun; Wang, Hui-Li

    2015-05-01

    Attention deficit/hyperactivity disorder (ADHD) is one of the most common psychiatric disorders of childhood. Despite its prevalence, the critical factors involved in its development remain to be identified. It was recently suggested that epigenetic mechanisms probably contribute to the etiology of ADHD. The present study was designed to examine the associations of epigenetic markers with ADHD among Chinese Han children, aiming to establish the prediction model for this syndrome from the epigenetic perspective. We conducted a pair-matching case-control study, and the ADHD children were systematically evaluated via structured diagnostic interviews, including caregiver interviews, based on the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, revised criteria (DSM-IV-R). The expression levels of risk genes DAT1, DRD4, DRD5, as well as their promoter methylation, were determined respectively, followed by the expression profiles of histone-modifying genes p300, MYST4, HDAC1, MeCP2. The multivariate logistic regressions were performed to establish ADHD prediction models. All of the seven genes tested were identified as risk factors for ADHD. The methylation of one critical CpG site located upstream of DRD4 was shown to affect its transcription, suggesting a role in ADHD's development. Aberrant DNA methylation and histone acetylation were indicated in ADHD patients. In addition, a prediction model was established using the combination of p300, MYST4 and HDAC1, with the accuracy of 0.9338. This is, to our knowledge, the first study to clearly demonstrate the associations between epigenetic markers and ADHD, shedding light on the preliminary diagnosis and etiological studies of this widespread disorder.

  11. Do Owners Have a Clever Hans Effect on Dogs? Results of a Pointing Study

    PubMed Central

    Schmidjell, Teresa; Range, Friederike; Huber, Ludwig; Virányi, Zsófia

    2012-01-01

    Dogs are exceptionally successful at interpreting human pointing gestures to locate food hidden in one of two containers. However, it has repeatedly been questioned whether dogs rely on the pointing gesture or their success is increased by subtle cues from their human handler. In two experiments we used a standard two-way object-choice task to focus on this potential Clever Hans effect. We investigated if and how owners’ knowledge and beliefs influenced their dogs’ performance. In two experiments, as is typical in such pointing tasks, the owners sat behind their dogs, in close auditory and tactile contact with them. In Experiment 1, we systematically manipulated the owners’ knowledge of whether or not their dog should follow the pointing gesture, but at the same time instructed the owners to refrain from influencing the choice of their dog. We found no influence of subtle cues from the owners, if indeed they existed: dogs in the different groups followed the pointing uniformly. Furthermore, in the absence of pointing dogs chose randomly, even though the owners had been informed about the location of the reward. In Experiment 2, owners were instructed to actively influence the choice of their dogs, and they, indeed, succeeded in sending their dogs to the container they believed to be baited. However, their influence was significantly weaker if the experimenter had previously pointed to the other location. Overall the pointing gesture seems to have a strong effect on the choice of dogs in an object-choice task. Pointing can lead the dogs to success without help from their owners as well as it can counteract clear directional instructions provided by the owners. PMID:23272000

  12. The effect of geographical indices on left ventricular structure in healthy Han Chinese population.

    PubMed

    Cen, Minyi; Ge, Miao; Liu, Yonglin; Wang, Congxia; Yang, Shaofang

    2017-02-01

    The left ventricular posterior wall thickness (LVPWT) and interventricular septum thickness (IVST) are generally regarded as the functional parts of the left ventricular (LV) structure. This paper aims to examine the effects of geographical indices on healthy Han adults' LV structural indices and to offer a scientific basis for developing a unified standard for the reference values of adults' LV structural indices in China. Fifteen terrain, climate, and soil indices were examined as geographical explanatory variables. Statistical analysis was performed using correlation analysis. Moreover, a back propagation neural network (BPNN) and a support vector regression (SVR) were applied to developing models to predict the values of two indices. After the prediction models were built, distribution maps were produced. The results show that LV structural indices are characteristically associated with latitude, longitude, altitude, average temperature, average wind velocity, topsoil sand fraction, topsoil silt fraction, topsoil organic carbon, and topsoil sodicity. The model test analyses show the BPNN model possesses better simulative and predictive ability in comparison with the SVR model. The distribution maps of the LV structural indices show that, in China, the values are higher in the west and lower in the east. These results demonstrate that the reference values of the adults' LV structural indices will be different affected by different geographical environment. The reference values of LV structural indices in one region can be calculated by setting up a BPNN, which showed better applicability in this study. The distribution of the reference values of the LV structural indices can be seen clearly on the geographical distribution map.

  13. Association of fibronectin Msp iv polymorphism and diabetic nephropathy susceptibility in Chinese Han population

    PubMed Central

    Gao, Jinxiang; Zhang, Xuezhong; Diao, Huiling; Liu, Yunqi; Lv, Min; Dong, Hua; Zhang, Xiaomin; Wang, Yaning

    2015-01-01

    Aim: Our study was aimed to study the distributional characteristics of fibronectin (Fn) Msp iv polymorphism in Chinese Han Population and investigate its association with susceptibility and clinicopathologic features of diabetic nephropathy (DN). Methods: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were applied to testify Fn Msp iv genotypes among 108 patients with DN and 86 healthy individuals. Odds ratio (OR) with 95% confidence interval (CI) were used to evaluate the association of Fn Msp iv polymorphism and onset risk and clinicopathologic stages of DN. Results: The comparison of genotype and allele distribution in normal, micro and massive proteinuria groups showed that genotype and allele distribution in massive proteinuria group showed great differences, compared with those of control group (P = 0.006, P = 0.004). Further analysis on the association of Fn Msp iv polymorphism and occurrence of abnormal proteinuria suggested that DD genotype and D allele appeared to be a risk factor for abnormal proteinuria (OR = 3.553, 95% CI = 1.278-9.875; OR = 2.442, 95% CI = 1.378-4.327). Then, we analyzed the effects of Fn Msp iv polymorphism on the clinicopathologic stages of DN, the result showed that DD genotype showed great effect on the occurrence of early-onset DN (OR = 7.500, 95% CI = 1.691-33.272). For the DN patients with D allele, the risk for early-onset DN was increased 3.445 folds (OR = 4.445, 95% CI = 1.869-33.10.574). Conclusion: Fn Msp iv polymorphism appeared to be associated with DN susceptibility. PMID:26045844

  14. Susceptibility gene for stroke or cerebral infarction in the Han population in Hunan Province of China★

    PubMed Central

    Mo, Danheng; Xu, Hongwei; Zhou, Wensheng; Yang, Qiming; Yang, Jianwen; Xiao, Bo; Yang, Qidong

    2013-01-01

    The scavenger receptor class B type I gene can protect against atherosclerosis; a mononucleotide polymorphism is associated with differences in blood lipid metabolism, postprandial serum lipid levels, insulin resistance, coronary artery disease and familial hyperlipidemia. In this study, the scavenger receptor class B type I gene exon 1 G4A gene polymorphism in atherosclerotic cerebral infarction patients, cerebral hemorrhage patients and normal controls was detected using the polymerase chain reaction-restriction fragment length polymorphism method. The results showed that the GA + AA genotype frequency of scavenger receptor class B type I gene G4A in atherosclerotic cerebral infarction patients was similar to that in cerebral hemorrhage patients and normal controls; however, the A allele frequency was significantly lower than that in normal controls. The serum level of high-density lipoprotein cholesterol in patients with the scavenger receptor class B type I gene G4A GA + AA genotype was significantly higher, while the serum level of low-density lipoprotein cholesterol was significantly lower than that in patients with the GG genotype, in both the atherosclerotic cerebral infarction and cerebral hemorrhage groups. The serum level of high-density lipoprotein cholesterol in patients with the scavenger receptor class B type I gene G4A GA + AA genotype was significantly higher, while the serum levels of low-density lipoprotein cholesterol and total cholesterol were significantly lower than those in normal controls with the GG genotype. Our experimental results suggest that the G4A polymorphism of the scavenger receptor class B type I gene is a possible predisposing risk factor for atherosclerotic cerebral infarction, and that it has no association with cerebral hemorrhage in the Han population in Hunan province of China. The A allele is possibly associated with the metabolism of high-density and low-density lipoprotein cholesterol. PMID:25206448

  15. Association analysis of the RGS4 gene in Han Chinese and Scottish populations with schizophrenia.

    PubMed

    Zhang, F; St Clair, D; Liu, X; Sun, X; Sham, P C; Crombie, C; Ma, X; Wang, Q; Meng, H; Deng, W; Yates, P; Hu, X; Walker, N; Murray, R M; Collier, D A; Li, T

    2005-10-01

    We investigated the RGS4 as a susceptibility gene for schizophrenia in Chinese Han (184 trios and 138 sibling pairs, a total of 322 families) and Scottish (580 cases and 620 controls) populations using both a family trio and case-control design. Both the samples had statistical power greater than 70% to detect a heterozygote genotype relative risk of >1.2 for frequent RGS4-risk alleles. We genotyped four single nucleotide polymorphisms (SNPs) which have previously been associated with schizophrenia as either individually or part of haplotypes. Allele frequencies and linkage disequilibrium between the SNPs was similar in the two populations. In the Chinese sample, no individual SNPs or any of their haplotypes were associated with schizophrenia. In the Scottish population, one SNP (SNP7) was significantly over-represented in the cases compared with the controls (0.44 vs. 0.38; A allele; chi(2) 7.08, P = 0.011 after correction for correlation between markers by permutation testing). One two-marker haplotype, composed of alleles T and A of SNP4 and SNP7, respectively, showed individual significance after correction by permutation testing (chi(2) 6.8; P = 0.04). None of the full four-marker haplotypes showed association, including the G-G-G-G haplotype previously associated with schizophrenia in more than one sample and the A-T-A-A haplotype. Thus, our data do not directly replicate previous associations of RGS4, but association with SNP 7 in the Scottish population provides some support for a role in schizophrenia susceptibility. We cannot conclusively exclude RGS4, as associated haplotypes are likely to be surrogates for unknown causative alleles, whose relationship with overlying haplotypes may differ between the population groups. Differences in the association seen across the two populations could result from methodological factors such as diagnostic differences but most likely result from ethnic differences in haplotype structures within RGS4.

  16. Examination of the vocal fold activity using ultra high speed filming: archival recordings by Paul Moore and Hans von Leden

    NASA Astrophysics Data System (ADS)

    Izdebski, Krzysztof; Vaughan, Laura

    2012-02-01

    We present excerpts from three archival ultra high-speed films on the function of the human larynx by Paul Moore, Ph. D. and Hans von Leden, M.D. The films received two awards for best scientific cinematography from two different international film festivals in Italy in 1957. These films present ultra high-speed cinematographic accounts on the workings of the human vocal folds during various phonatory and ventilatory activities. These films were captured at speeds of 2000 to 5000 frames-per-second via an ingeniously arranged laryngeal mirror viewing device. Such speeds were revolutionary six decades ago. Technology currently allows us to film laryngeal behavior at speeds of up to 16,000 frames-per-second using digital recordings. However, the ultra high-speed films by Paul and Hans remain a beacon for anyone sincerely interested in how the smallest instrument of sound production works, and how it is subjected to failure by intrinsic or extrinsic factors.

  17. Positive association between the brain-derived neurotrophic factor (BDNF) gene and bipolar disorder in the Han Chinese population.

    PubMed

    Xu, Jie; Liu, Yun; Wang, Peng; Li, Sheng; Wang, Yabing; Li, Jun; Zhou, Daizhan; Chen, Zhuo; Zhao, Teng; Wang, Ting; Xu, He; Yang, Yifeng; Feng, Guoyin; He, Lin; Yu, Lan

    2010-01-05

    Brain-derived neurotrophic factor (BDNF) is the most widely distributed neurotrophin in the central nervous system (CNS), and services many biological functions such as neural survival, differentiation, and plasticity. Previous studies have suggested that the Val66Met (also known as rs6265 or G196A) variant of BDNF is associated with bipolar disorder (BPD), but the results have been inconclusive. We therefore genotyped the Val66Met polymorphism in a Han Chinese population sample (498 cases and 501 control subjects). We found that the BDNF genotype is associated with BPD in this population (chi(2) = 9.4666, df = 2, P = 0.00884). Furthermore, our data suggested that the Met allele rather than the Val allele increased the risk for BPD in our Han population (OR = 1.44; 95% CI = 1.070-1.950; P = 0.016). Further studies are necessary to elucidate the involvement of the BDNF gene in the pathophysiology of BPD.

  18. [Genetic polymorphism of FIBRA,DHFRP2 and ACTBP2 and their forensic application in Yunnan Han population].

    PubMed

    Jing, Qiang; Nie, Sheng-Jie

    2002-09-01

    To investigate the genetic polymorphism of FIBRA,DHFRP2 and ACTBP2 in Yunnan Han population as well as their application in forensic science, EDTA-blood specimens were collected from 200 healthy individuals. The DNA were extracted either by the Chloro form, phenol method or by the Chelex-100 method. The PCR products were analyzed by PAG vertical electrophoresis,following by silver staining. All gene frequencies, discrimination power (DP), exclusion of paternity probability (EPP), heterozygosity (H),polymorphisms information content (PIC),matching probability (PM) as well as the Hardy-Weinberg test were calculated. The obtained data are beneficial in the understanding of population genetics of the three STR loci in Yunnan Han population and the results suggest that these loci are valuable genetic markers for paternity testing and personal identification in forensic science practice.

  19. Gene expression profiling by mRNA array reveals different pattern in Chinese glioblastoma patients between Uygur and Han populations

    PubMed Central

    Liu, Liang; Xia, Haichen; Luan, Xinping; Dun, Zhiping; Zhu, Zhengquan; Dushan, Bieke; Li, Wenting

    2015-01-01

    Objective: To identify differentially expressed genes in Chinese glioblastoma patients of Uygur and Han populations, and investigate their potential clinical value for pathogenesis determination and progress prediction. Methods: Gene expression profiling was obtained from three patients of each Uygur and Han nationalities, respectively, by mRNA expression array. Data were processed by the GenomeStudio software and language R of the Lumi package, followed by GO (Gene Ontology) term and KEGG pathway annotation analysis by the Web Gestalt software. Results: The comparative analysis of genome-scale gene expression in glioblastomas revealed 1,475 differentially expressed genes, with 669 and 807 genes up-regulated and down-regulated, respectively. These included the STRC gene, which has two transcripts, one up-regulated and one down-regulated. GO term analysis suggested that 1,175 out of 1,475 key genes were involved in small GTPase mediated signal transduction, Ras protein signal transduction, bioprocess of neuronal response regulation, and central nervous system myelination. The KEGG pathway enrichment analysis showed that the differentially expressed genes were covered by 28 signaling pathways associated with tumorigenesis, including metabolic pathways, tumor suppressor pathways, MAP kinase signaling pathways, TGF-β signaling pathway, neurotrophin signaling pathways, and mTOR signaling pathway. Conclusion: The comparative study of gene expression profiling in glioblastomas between Uygur and Han nationalities revealed differentially expressed genes, whose functions and expression localization were analyzed by GO term analysis and KEGG pathway enrichment analysis. Different pathogenesis mechanisms were proposed for glioblastomas in Chinese patients of Uygur and Han nationalities from a molecular biology perspective. PMID:26309555

  20. Genotype frequency of human neutrophil antigen-3 (HNA-3) polymorphisms in the Yi, Han and Tibetan populations of China

    PubMed Central

    Chen, Qing; Srivastava, Kshitij; Liu, Zhong; Xiao, Jianyu; Huang, Chengyin; Sun, Jun; Li, Min; Flegel, Willy Albert

    2015-01-01

    Background Human neutrophil antigen-3 (HNA-3) alloantibodies can cause fatal transfusion-related acute lung injury (TRALI). Most frequencies of SLC44A2 alleles encoding the HNA-3a/b antigens have been established in Han individuals by PCR-SSP. We sequenced a SLC44A2 gene fragment and determined its allele frequencies in 3 ethnicities of China. Study design and methods Genomic DNA was extracted from 448 samples of 100 blood donors of Yi ethnicity in Xichang, Liangshan; 248 Han in Nanjing, Jiangsu; and 100 Tibetan in Lhasa, Tibet. A PCR-SSP was applied to determine the phase of 2 SNPs; SLC44A2 haplotypes were constructed. Results In the 567 nucleotides of the SLC44A2 gene covered by our sequencing approach in Han individuals, we detected the known 331-44G>A (rs12972963) and 461G>A (rs2288904) polymorphisms. In the 243 nucleotides sequenced in Yi and Tibetan populations, we detected the known 461G>A and 503-15T>C (rs1560711) polymorphisms. A PCR-SSP for the common HNA-3a/b SNP was 100% concordant. The frequencies of the HNA-3a allele were 0.58, 0.66 and 0.69 in Yi, Han (Nanjing) and Tibetan, respectively (0.42, 0.34 and 0.31 for HNA-3b). Conclusions The Yi population of China had the highest frequency of blood donors at risk of harboring anti-HNA-3a compared to any population studied so far. We confirmed that the underlying SLC44A2*2 allele is more common in China than in any European or African populations. PMID:26593331

  1. Association of the candidate gene SLC1A1 and obsessive-compulsive disorder in Han Chinese population.

    PubMed

    Wu, Haisu; Wang, Xuemei; Yu, Shunying; Wang, Dongxiang; Chen, Jianhua; Jiang, Kaida; Zhu, Liping; Xiao, Zeping; Fralick, Drew

    2013-10-30

    This case-control study enrolled 578 obsessive-compulsive disorder (OCD) patients and 649 controls and genotyped rs10491734, rs2228622, rs301430 and rs301443 to replicate association of the SLC1A1 gene with OCD in ethnic Han Chinese. The G-A-C-G and G-G-T-C haplotypes were found to be significantly associated with OCD in overall samples, male samples and female samples.

  2. Disruption of estrogen homeostasis as a mechanism for uterine toxicity in Wistar Han rats treated with tetrabromobisphenol A.

    PubMed

    Sanders, J Michael; Coulter, Sherry J; Knudsen, Gabriel A; Dunnick, June K; Kissling, Grace E; Birnbaum, Linda S

    2016-05-01

    Chronic oral treatment of tetrabromobisphenol A (TBBPA) to female Wistar Han rats resulted in increased incidence of cell proliferation at 250mg/kg and tumor formation in the uterus at higher doses. The present study was designed to test the hypothesis that disruption of estrogen homeostasis was a major mode-of-action for the observed effects. Biological changes were assessed in serum, liver, and the proximal (nearest the cervix) and distal (nearest the ovaries) sections of the uterine horn of Wistar Han rats 24h following administration of the last of five daily oral doses of 250mg/kg. Expression of genes associated with receptors, biosynthesis, and metabolism of estrogen was altered in the liver and uterus. TBBPA treatment also resulted in changes in expression of genes associated with cell division and growth. Changes were also observed in the concentration of thyroxine in serum and in expression of genes in the liver and uterus associated with thyroid hormone receptors. Differential expression of some genes was tissue-dependent or specific to tissue location in the uterus. The biological responses observed in the present study support the hypothesis that perturbation of estrogen homeostasis is a major mode-of-action for TBBPA-mediated cell proliferation and tumorigenesis previously observed in the uterus of TBBPA-treated Wistar Han rats.

  3. Analysis of LRRK2, SNCA, and ITGA8 Gene Variants with Sporadic Parkinson's Disease Susceptibility in Chinese Han Population.

    PubMed

    Fang, Jie; Yi, Kehui; Guo, Mingwei; An, Xingkai; Qu, Hongli; Lin, Qing; Bi, Min; Ma, Qilin

    2016-01-01

    Background. Parkinson's disease (PD) is an age-related neurodegenerative disease affected by multiple genetic and environmental factors. We performed a case-control study on candidate gene to scrutinize whether genetic variants in LRRK2, SNCA, and ITGA8 genes could be associated with sporadic PD in Chinese Han population. Methods. Five single-nucleotide polymorphisms (SNPs) of LRRK2 (rs1491942), SNCA (rs2301134, rs2301135, and rs356221), and ITGA8 (rs7077361) were selected and genotyped among 583 unrelated PD patients and 558 healthy controls. Results. Rs1491942 of LRRK2 gene had a significantly higher genotype frequency (P = 3.543E - 09) and allelic G/C frequencies (P = 2.601E - 10) in PD patients than controls. Rs2301135 of SNCA gene also showed an obvious difference in genotype frequency (P = 4.394E - 07) and allelic G/C frequencies (P = 9.116E - 13) between PD patients and controls. SNPs rs2301134 and rs356221 of SNCA gene and rs7077361 of ITGA8 gene lacked the significant association with the susceptibility of PD in Chinese Han population. Conclusions. Our study firstly expresses that rs1491942 of LRRK2 and rs2301135 of SNCA gene are substantially associated with sporadic Parkinson's disease in Chinese Han population.

  4. Analysis of 27 Y-chromosomal STR haplotypes in a Han population of Henan province, Central China.

    PubMed

    Bai, Rufeng; Liu, Yaju; Zhang, Juntao; Shi, Meisen; Dong, Hongmei; Ma, Shuhua; Bai, R F; Shi, Ms

    2016-09-01

    A total of 1225 unrelated Han males from Henan province were analyzed with the prototype Yfiler® Plus kit (Life Technologies, Thermo Fisher Scientific, Waltham, MA, USA). The calculated gene diversity (GD) values ranged from 0.3855 to 0.9673 for the DYS391 and DYS385a/b loci, respectively. The discriminatory capacity (DC) was 86.94 % with 1065 observed haplotypes using 17 Yfiler loci, by the addition of 10 Y-STRs to the Yfiler® Plus system, the DC was increased to 98.94 % while showing 1212 observed haplotypes. Among the new incorporated Y-STRs, DYS576, DYF387S1, DYS518, DYS627, and DYS449 were major contributors to enhancing discrimination. In the analysis of molecular variance, the Henan Han population clustered with Asian origin populations and showed significant differences from other reference populations. In this study, the improvement of adding additional Y-STR markers with the Yfiler® Plus kit provided substantially stronger discriminatory power in the Henan Han population.

  5. Feeling Happy and Sad at the Same Time? Subcultural Differences in Experiencing Mixed Emotions between Han Chinese and Mongolian Chinese

    PubMed Central

    Deng, Xinmei; Ding, Xuechen; Cheng, Chen; Chou, Hiu Mei

    2016-01-01

    Sometimes people experience pleasant and unpleasant emotions at the same time in a single emotional event. Previous cross-cultural studies indicated that such mixed emotions are more prevalent in China and related to the attitudes toward happiness and individual’s regulatory motivation. However, China is a multi-ethnic country and not much is known about subcultural differences in mixed emotions. The aim of this study was to examine the role that implicit attitudes toward happiness and regulatory motivation played in regard of the subcultural differences in mixed emotions between Han (N = 61) and Mongolian Chinese (N = 46). Results indicated that, compared with Mongolian Chinese, Han Chinese showed stronger associations between implicit contra-hedonic attitudes toward happiness and mixed emotions during pleasant emotional events. Also, Han Chinese who reported contra-hedonic motivation during pleasant emotional events had higher levels of mixed emotions than those who had hedonic motivation. No significant differences were found in terms of mixed emotions between Mongolian Chinese who had contra-hedonic and hedonic motivation. These results suggest that the psychological mechanisms underlying differences in mixed emotions also require a more comprehensive understanding from a subcultural perspective. PMID:27833582

  6. Feeling Happy and Sad at the Same Time? Subcultural Differences in Experiencing Mixed Emotions between Han Chinese and Mongolian Chinese.

    PubMed

    Deng, Xinmei; Ding, Xuechen; Cheng, Chen; Chou, Hiu Mei

    2016-01-01

    Sometimes people experience pleasant and unpleasant emotions at the same time in a single emotional event. Previous cross-cultural studies indicated that such mixed emotions are more prevalent in China and related to the attitudes toward happiness and individual's regulatory motivation. However, China is a multi-ethnic country and not much is known about subcultural differences in mixed emotions. The aim of this study was to examine the role that implicit attitudes toward happiness and regulatory motivation played in regard of the subcultural differences in mixed emotions between Han (N = 61) and Mongolian Chinese (N = 46). Results indicated that, compared with Mongolian Chinese, Han Chinese showed stronger associations between implicit contra-hedonic attitudes toward happiness and mixed emotions during pleasant emotional events. Also, Han Chinese who reported contra-hedonic motivation during pleasant emotional events had higher levels of mixed emotions than those who had hedonic motivation. No significant differences were found in terms of mixed emotions between Mongolian Chinese who had contra-hedonic and hedonic motivation. These results suggest that the psychological mechanisms underlying differences in mixed emotions also require a more comprehensive understanding from a subcultural perspective.

  7. TNFAIP3 rs2230926 polymorphisms in rheumatoid arthritis of southern Chinese Han population: a case-control study.

    PubMed

    Hao, Guifeng; Li, Yasong; Liu, Jinlin; Wo, Mingyi

    2014-01-01

    Polymorphism of tumor necrosis factor alpha-induced protein 3 (TNFAIP3) has been be related to various auto-immune diseases. Based on previous studies that the single nucleotide polymorphism (SNP) of rs2230926 was association with rheumatoid arthritis (RA) of Japanese, Caucasian population and the northern Chinese Han population, we tested the alleles and geno-type frequencies of rs2230926 in TNFAIP3 to investigate whether rs2230926 is susceptible to RA of southern Chinese Han population. In our case-control association study, 207 RA patients fulfilling the American College of Rheumatology (ACR) 1987 criteria were compared with 199 unrelated healthy subjects. After testing the alleles and genotype frequencies of rs2230926, the airwise linkage disequilibrium (LD) was computed and odd ration (OR) and 95% confidence intervals (95% CI) were used for evaluating the susceptibility to RA. The SNP of rs2230926 of the cases and control subjects were conformed to the Hardy-Weinberg equilibrium (P = 0.02257). The significantly statistical differences in alleles of T, G were founded in the cases and controls (P = 0.0027, OR 0.417, 95% CI 0.232-0.749); the genetic types of rs2230926 were associated with a susceptibility to RA, with OR 0.375 (95% CI 0.198-0.707, P = 0.0018). In the present study, our results indicated that the genetic polymorphism of rs2230926 in TNFAIP3 may be a susceptible factor conferring risk for RA in southern Chinese Han population.

  8. Association of HSD17B3 and HSD3B1 polymorphisms with acne vulgaris in Southwestern Han Chinese.

    PubMed

    Yang, Xiao-Yan; Wu, Wen-Juan; Yang, Cheng; Yang, Ting; He, Jun-Dong; Yang, Zhi; He, Li

    2013-01-01

    Acne vulgaris is a very common skin disorder. Previous studies have indicated that genetic background factors play key roles in the onset of acne. Our previous investigation implicated several genes in the androgen metabolism pathway with acne vulgaris in the Han Chinese population. Thus, we further investigated genes and genetic variants that play important roles in this pathway for their relationship with the pathology of acne. In this study, a total of 610 subjects, including 403 acne patients and 207 healthy controls, were genotyped for 15 single-nucleotide polymorphisms in HSD3B1 and HSD17B3 genes. This study shows that rs6428829 in HSD3B1 was associated with acne vulgaris in Han patients from Southwest China, even after adjusting for age and sex. The GG genotype was associated with an increased risk of acne vulgaris (p < 0.05) and G allele carriers were associated with an increased risk of acne vulgaris (p < 0.05). In addition, the haplotype AAT in HSD3B1 significantly increased the risk of acne vulgaris in the case-control study (p < 0.05). Furthermore, for another gene in this pathway, HSD17B3, the haplotype H8 was significantly associated with an increased risk of acne vulgaris. Based on these analyses, our study indicates that the cutaneous androgen metabolism-regulated genes HSD3B1 and HSD17B3 increase the susceptibility to acne vulgaris in Han Chinese from Southwest China.

  9. Genetic distribution and association analysis of DRD2 gene polymorphisms with major depressive disorder in the Chinese Han population.

    PubMed

    He, Mei; Yan, Hong; Duan, Zhao-Xia; Qu, Wei; Gong, Hai-Yan; Fan, Zheng-Li; Kang, Jian-Yi; Li, Bing-Cang; Wang, Jian-Min

    2013-01-01

    Dopamine D2 receptor is involved in reward-mediating mesocorticolimbic pathways. It plays an important role in major depressive disorder (MDD). Three gene polymorphisms Taq1A, C957T and -141C ins/del, were identified in the DRD2 gene among the Western population. These variants in the DRD2 gene might be associated with the susceptibility of MDD patients through affecting the bioeffects of endogenous dopamine neurotransmission. However, little is known about their occurrence in Chinese population and their association with the susceptibility of patients with major depressive disorder. In this study, a total of 338 unrelated adult Chinese Han population, including 224 healthy volunteers and 114 patients with major depressive disorder, were recruited. DRD2 polymorphisms (Taq1A and -141C ins/del) were detected using restriction fragment length polymorphism (RFLP) analysis and the C957T were detected by sequencing directly. As a result, three polymorphisms were identified in Chinese Han population and all were common SNP. However, we could detect no evidence of genetic association between 3 markers in DRD2 and major depressive disorder in the Chinese Han population. To conclude, this result suggests that Taq1A, C957T and -141C ins/del of DRD2 gene may not be associated with major depressive disorder, also may be the sample sizes too small to allow a meaningful test.

  10. Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women

    PubMed Central

    Sun, Min-Ying; Du, Hong-Yan; Zhu, An-Na; Liang, Hui-Ying; de Garibay, Gorka Ruiz; Li, Fen-Xia; Li, Ming; Yang, Xue-Xi

    2015-01-01

    Exposure to high levels of estrogen is considered an important risk factor for susceptibility to breast cancer. Common polymorphisms in genes that affect estrogen levels may be associated with breast cancer risk, but no comprehensive study has been performed among Han Chinese women. In the present study, 32 single-nucleotide polymorphisms (SNPs) in estrogen-related genes were genotyped using the MassARRAY IPLEX platform in 1076 Han Chinese women. Genotypic and allelic frequencies were compared between case and control groups. Unconditional logistic regression was used to assess the effects of SNPs on breast cancer risk. Associations were also evaluated for breast cancer subtypes stratified by estrogen receptor (ER) and progesterone receptor (PR) status. Case-control analysis showed a significant relation between heterozygous genotypes of rs700519 and rs2069522 and breast cancer risk (OR = 0.723, 95% CI = 0.541–0.965, p = 0.028 and OR = 1.500, 95% CI = 1.078–2.087, p = 0.016, respectively). Subgroup comparisons revealed that rs2446405 and rs17268974 were related to ER status, and rs130021 was associated with PR status. Our findings suggest that rs700519 and rs2069522 are associated with susceptibility to breast cancer among the Han Chinese population and have a cumulative effect with three other identified SNPs. Further genetic and functional studies are needed to identify additional SNPs, and to elucidate the underlying molecular mechanisms. PMID:25689428

  11. The Association between NOS3 Gene Polymorphisms and Hypoxic-Ischemic Encephalopathy Susceptibility and Symptoms in Chinese Han Population

    PubMed Central

    Wu, Yongqin; Fang, Xiaoxia; Yin, Ling; Liu, Yuxia; Xu, Shouxia; Li, Aixue

    2016-01-01

    Endothelial NOS (NOS3) has a potential role in the prevention of neuronal injury in hypoxic-ischemic encephalopathy (HIE). Thus, we aimed to explore the association between NOS3 gene polymorphisms and HIE susceptibility and symptoms in a Chinese Han population. Three single nucleotide polymorphisms (SNPs) in the NOS3 gene, rs1800783, rs1800779, and rs2070744, were detected in 226 children with HIE and 212 healthy children in a Chinese Han population. Apgar scores and magnetic resonance image scans were used to estimate the symptoms and brain damage. The association analyses were conducted by using SNPStats and SPSS 18.0 software. The genotype and allele distributions of rs1800779 and rs1799983 displayed no significant differences between the patients and the controls, while the rs2070744 allele distribution was significantly different (corrected P = 0.009). For clinical characteristics, the rs2070744 genotype distribution was significantly different in patients with different Apgar scores (≤5, TT/TC/CC = 6/7/5; 6~7, TT/TC/CC = 17/0/0; 8~9, TT/TC/CC = 6/2/0; 10, TT/TC/CC = 7/1/0; corrected P = 0.006) in the 1001 to 1449 g birth weight subgroup. The haplotype test did not show any associations with the risk and clinical characteristics of HIE. The results suggest that NOS3 gene SNP rs2070744 was significantly associated with HIE susceptibility and symptom expression in Chinese Han population. PMID:28070505

  12. Association study between polymorphisms of PRMT6, PEX10, SOX5, and nonobstructive azoospermia in the Han Chinese population.

    PubMed

    Zou, Shasha; Li, Zheng; Wang, Yanan; Chen, Tingting; Song, Pingping; Chen, Jianhua; He, Xiaojin; Xu, Peng; Liang, Ming; Luo, Kailing; Zhu, Xiaobin; Tian, Erpo; Du, Qiang; Wen, Zujia; Li, Zhiqiang; Wang, Meng; Sha, Yanwei; Cao, Yunxia; Shi, Yongyong; Hu, Hongliang

    2014-05-01

    A previous genomewide association study of nonobstructive azoospermia (NOA) in the Han Chinese population identified three risk loci (rs12097821, rs2477686, and rs10842262) and provided strong evidence for a genetic influence in male infertility. However, recently, a follow-up study of these single nucleotide polymorphism (SNP) loci in the Japanese population showed that none of them were significantly associated with NOA. Therefore, we conducted an association study, consisting of 550 NOA cases and 555 normal controls, to further validate whether the risk of those three SNPs still existed in an independent Han Chinese male population. The association studies did not support the association of rs12097821 and rs2477686 with NOA for both genotype and allele distributions, but rs10842262 in the SOX5 gene was significantly associated with NOA (chi square = 9.31; P = 0.0095 and chi square = 9.27; P = 0.0023, respectively). Our study provides genetic evidence for SOX5 polymorphism in NOA, contributing to predicting males at high risk of NOA in Han Chinese population. Considering genetic differences among populations, future validating studies in independent samples are suggested.

  13. An investigation of obesity susceptibility genes in Northern Han Chinese by targeted resequencing

    PubMed Central

    Wu, Yili; Wang, Weijing; Jiang, Wenjie; Yao, Jie; Zhang, Dongfeng

    2017-01-01

    Abstract Our earlier genome-wide linkage study of body mass index (BMI) showed strong signals from 7q36.3 and 8q21.13. This case–control study set to investigate 2 genomic regions which may harbor variants contributed to development of obesity. We employed targeted resequencing technology to detect single nucleotide polymorphisms (SNPs) in 7q36.3 and 8q21.13 from 16 individuals with obesity. These were compared with 504 East Asians in the 1000 Genomes Project as a reference panel. Linkage disequilibrium (LD) block analysis was performed for the significant SNPs located near the same gene. Genes involved in statistically significant loci were then subject to gene set enrichment analysis (GSEA). The 16 individuals aged between 30 and 60 years with BMI = 33.25 ± 2.22 kg/m2. A total of 12,131 genetic variants across all of samples were found. After correcting for multiple testing, 65 SNPs from 25 nearest genes (INSIG1, FABP5, PTPRN2, VIPR2, WDR60, SHH, UBE3C, LMBR1, PAG1, IMPA1, CHMP4, SNX16, BLACE, EN2, CNPY1, LOC100506302, RBM33, LOC389602, LOC285889, LINC01006, NOM1, DNAJB6, LOC101927914, ESYT2, LINC00689) were associated with obesity at significant level q-value ≤ 0.05. LD block analysis showed there were 10 pairs of loci with D′ ≥ 0.8 and r2 ≥ 0.8. GSEA further identified 2 major related gene sets, involving lipid raft and lipid metabolic process, with FDR values <0.12 and <0.4, respectively. Our data are the first documentation of genetic variants in 7q36.3 and 8q21.13 associated with obesity using target capture sequencing and Northern Han Chinese samples. Additional replication and functional studies are merited to validate our findings. PMID:28207535

  14. Identification of vaginal fluid, saliva, and feces using microbial signatures in a Han Chinese population.

    PubMed

    Zou, Kai-Nan; Ren, Li-Jie; Ping, Yuan; Ma, Ke; Li, Hui; Cao, Yu; Zhou, Huai-Gu; Wei, Yi-Liang

    2016-10-01

    In recent years, forensic scientists have focused on the discrimination of body fluids using microbial signatures. In this study, we performed PCR-based detection of microbial signatures of vaginal fluid, saliva, and feces in a Han Chinese population. We investigated the 16S rRNA genes of Lactobacillus crispatus, Lactobacillus gasseri, Lactobacillus jensenii, Lactobacillus iners, and Atopobium vaginae in vaginal fluid, the 16S rRNA and the glucosyltransferase enzyme genes of Streptococcus salivarius and Streptococcus mutans in saliva, and the 16S rRNA genes of Enterococcus species, the RNA polymerase β-subunit gene of Bacteroides uniformis and Bacteroides vulgatus, and the α-1-6 mannanase gene of Bacteroides thetaiotaomicron in feces. As a result, the detection proportions of L. crispatus, L. gasseri, L. jensenii, L. iners, and A. vaginae were 15/16, 5/16, 8/16, 14/16, and 3/16 in 16 vaginal fluid donors, respectively. L. crispatus and L. jensenii were specifically detected in vaginal fluid; L. gasseri, L. iners, and A. vaginae were also detected in non-vaginal fluid. S. salivarius and S. mutans were not specifically detected in saliva. The detection proportions of Enterococcus species, B. uniformis, B. vulgatus, and B. thetaiotaomicron in 16 feces samples were 16/16, 12/16, 15/16, and 11/16, respectively. B. uniformis and B. thetaiotaomicron were specifically detected in feces. In addition, DNA samples prepared for the identification of body fluid can also be used for individual identification by short tandem repeat typing. The mean detection sensitivities of L. crispatus and L. jensenii were 0.362 and 0.249 pg/uL, respectively. In conclusion, L. crispatus, L. jensenii, B. uniformis, and B. thetaiotaomicron can be used as effective markers for forensic identification of vaginal fluid and feces.

  15. Association between the KRAS Gene Polymorphisms and Papillary Thyroid Carcinoma in a Chinese Han Population

    PubMed Central

    Ning, Lifeng; Rao, Wenwang; Yu, Yaqin; Liu, Xiaoli; Pan, Yuchen; Ma, Yuan; Liu, Rui; Zhang, Shangchao; Sun, Hui; Yu, Qiong

    2016-01-01

    Several studies have reported the association between MAPK signaling pathway gene polymorphisms and papillary thyroid carcinoma (PTC). KRAS gene, an oncogene from the mammalian RAS gene family plays an important role in the MAPK pathway. This study aimed to identify the potential association of KRAS gene polymorphisms with susceptibility to PTC in a Han Chinese population. A total of 861 patients with PTC, 562 disease controls with nodular goiter and 897 healthy controls were recruited. Four tagSNP polymorphisms (rs12427141, rs712, rs7315339 and rs7960917) of KRAS gene were genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). Statistical analyses and haplotype estimations were conducted using Haploview and Unphased softwares. Only significant differences were observed in genotypic frequencies of the rs7315339 polymorphism (χ2 =7.234, df=2, p=0.027) between PTC and disease controls. Statistically significant differences in both allelic and genotypic genotypes frequencies for rs712 (Genotype, χ2=8.258, p=0.016) and rs12427141 (Allele, χ2=3.992, p=0.046; Genotype, χ2=8.140, p=0.017) were observed between PTC patients and controls. Haplotype analyses revealed higher frequencies of GA and TA haplotypes (p=0.039 and p=0.003, respectively) from rs712- rs12427141 (two-SNP) or TGA and TTG haplotype containing the alleles from rs7960917, rs712 and rs12427141, as well as the GAT haplotype containing the alleles from rs712, rs12427141 and rs7315339 in PTC patients than in healthy controls (p=0.042, p=0.037, p=0.027, respectively). Inversely, the haplotype TTA from rs7960917, rs712 and rs12427141 or the haplotype TAC from rs712, rs12427141 and rs7315339 was significantly less frequent in the PTC patients than in normal control (p=0.003, p=0.003, respectively). These findings suggest the role of these KRAS gene variants in susceptibility to PTC. Moreover, significant differences of the KRAS gene polymorphisms may occur

  16. Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss.

    PubMed

    Tang, Xiaowen; Zheng, Jing; Ying, Zhengbiao; Cai, Zhaoyang; Gao, Yinglong; He, Zheyun; Yu, Han; Yao, Juan; Yang, Yaling; Wang, Hui; Chen, Ye; Guan, Min-Xin

    2015-07-01

    Mutations in the mitochondrial DNA have been associated with hearing loss. However, the prevalence and spectrum of mitochondrial tRNA mutations in hearing-impaired subjects are poorly understood. In this report, we have investigated the prevalence and spectrum of mitochondrial tRNA(Ser(UCN)) mutations in a large cohort of 2651 Han Chinese subjects with hearing loss. The clinical evaluation showed that 744 subjects (432 males and 312 females) had a history of exposure to aminoglycosides and other probands exhibited nonsyndromic hearing loss. Mutational analysis of tRNA(Ser(UCN)) gene identified 9 (8 known and 1 novel) variants. The prevalence of the known deafness-associated 7511T>C, 7505T>C and 7445A>C mutations was 0.04%, 0.04% and 0.04%, respectively. Other variants were evaluated by the evolutionary conservation, allelic frequency of Chinese controls, potential structural and functional alterations and pedigree analysis. Three variants were polymorphisms, while the 7444G>A, 7471DelG and 7496A>G variants were putative deafness-associated mutations. These putative deafness-associated variants accounted for 0.68% cases of hearing-impaired subjects in this cohort. The low penetrance of hearing loss in pedigrees carrying one of these putative deafness-associated mutations indicated that the mutation(s) is necessary but itself insufficient to produce a clinical phenotype. Other genetic or environmental factor(s) may influence the phenotypic manifestation of these tRNA(Ser(UCN)) mutations. Moreover, mtDNAs in 20 probands carrying one of the putative deafness-associated mutations were widely dispersed among 8 Eastern Asian haplogroups. In particular, the occurrences of haplogroups D4a, M22, and H2 in patients carrying the deafness-associated variants were higher than those in Chinese controls. These data further support that the mitochondrial tRNA(Ser(UCN)) gene is the hot spot for mutations associated with hearing loss. Thus, our findings may provide valuable

  17. K-ras genetic mutation and influencing factor analysis for Han and Uygur nationality colorectal cancer patients

    PubMed Central

    Eli, Mayinur; Mollayup, Ablikim; Muattar; Liu, Chao; Zheng, Chao; Bao, Yong-Xing

    2015-01-01

    To investigate the K-ras genetic mutation status in colorectal cancer patients, compare the difference of K-ras genetic mutation rate in Han and Uygur nationality and analyze the influencing factor. 91 cases (52 cases of Han nationality and 39 cases of Uygur nationality) of colorectal biopsy or surgical ablation pathology specimen from the first affiliated hospital of Xinjiang Medical University during January, 2010 to March, 2013 were collected to detect the 12th and 13th code mutation status of K-ras gene exon 2 with pyrosequencing method and compare the difference of K-ras gene mutation rate between Han and Uygur nationality patients. Single factor analysis and multiple factor logistic regression analysis were utilized to analyze the influencing factor for K-ras genetic mutation. 33 cases of patients with K-ras genetic mutation were found from the 91 cases colorectal cancer patients and the total mutation rate was 36.3%. Among them, 24 cases (72.7%) were found with mutation only in the 12th code, 9 cases (27.3%) were found with mutation only in the 13th code and no one case was found with mutation in both the two codes. Mutation rate of the 12th code in the Uygur nationality was significantly higher than that in the Han nationality (P<0.05), but there were no significant difference in the comparison of the total mutation rate and the 13th code mutation rate between the two groups (P>0.05). There were no associativity (P>0.05) between the K-ras genetic mutation and sex, age, smoking history, drinking history, tumor location, macropathology type, differentiation level, staging, invasive depth, lymph nodes transferring and metastasis in colorectal cancer patients (P>0.05). K-ras genetic mutation rate is high in colorectal cancer patients. The mutation rate of 12th code in Uygur nationality is higher than that in Han nationality. There is no significant associativity between K-ras genetic mutation rate and patients’ clinical pathology characteristic. PMID:26309716

  18. K-ras genetic mutation and influencing factor analysis for Han and Uygur nationality colorectal cancer patients.

    PubMed

    Eli, Mayinur; Mollayup, Ablikim; Muattar; Liu, Chao; Zheng, Chao; Bao, Yong-Xing

    2015-01-01

    To investigate the K-ras genetic mutation status in colorectal cancer patients, compare the difference of K-ras genetic mutation rate in Han and Uygur nationality and analyze the influencing factor. 91 cases (52 cases of Han nationality and 39 cases of Uygur nationality) of colorectal biopsy or surgical ablation pathology specimen from the first affiliated hospital of Xinjiang Medical University during January, 2010 to March, 2013 were collected to detect the 12th and 13th code mutation status of K-ras gene exon 2 with pyrosequencing method and compare the difference of K-ras gene mutation rate between Han and Uygur nationality patients. Single factor analysis and multiple factor logistic regression analysis were utilized to analyze the influencing factor for K-ras genetic mutation. 33 cases of patients with K-ras genetic mutation were found from the 91 cases colorectal cancer patients and the total mutation rate was 36.3%. Among them, 24 cases (72.7%) were found with mutation only in the 12th code, 9 cases (27.3%) were found with mutation only in the 13th code and no one case was found with mutation in both the two codes. Mutation rate of the 12th code in the Uygur nationality was significantly higher than that in the Han nationality (P<0.05), but there were no significant difference in the comparison of the total mutation rate and the 13th code mutation rate between the two groups (P>0.05). There were no associativity (P>0.05) between the K-ras genetic mutation and sex, age, smoking history, drinking history, tumor location, macropathology type, differentiation level, staging, invasive depth, lymph nodes transferring and metastasis in colorectal cancer patients (P>0.05). K-ras genetic mutation rate is high in colorectal cancer patients. The mutation rate of 12th code in Uygur nationality is higher than that in Han nationality. There is no significant associativity between K-ras genetic mutation rate and patients' clinical pathology characteristic.

  19. Genetic variability and phylogenetic analysis of Han population from Guanzhong region of China based on 21 non-CODIS STR loci.

    PubMed

    Zhang, Yu-Dang; Tang, Xiao-Li; Meng, Hao-Tian; Wang, Hong-Dan; Jin, Rui; Yang, Chun-Hua; Yan, Jiang-Wei; Yang, Guang; Liu, Wen-Juan; Shen, Chun-Mei; Zhu, Bo-Feng

    2015-03-09

    In the present study, we presented the population genetic data and their forensic parameters of 21 non-CODIS autosomal STR loci in Chinese Guanzhong Han population. A total of 166 alleles were observed with corresponding allelic frequencies ranging from 0.0018 to 0.5564. No STR locus was observed to deviate from the Hardy-Weinberg equilibrium and linkage disequilibriums after applying Bonferroni correction. The cumulative power of discrimination and probability of exclusion of all the 21 STR loci were 0.99999999999999999993814 and 0.999998184, respectively. The results of genetic distances, phylogenetic trees and principal component analysis revealed that the Guanzhong Han population had a closer relationship with Ningxia Han, Tujia and Bai groups than other populations tested. In summary, these 21 STR loci showed a high level of genetic polymorphisms for the Guanzhong Han population and could be used for forensic applications and the studies of population genetics.

  20. Genetic Variability and Phylogenetic Analysis of Han Population from Guanzhong Region of China based on 21 non-CODIS STR Loci

    PubMed Central

    Zhang, Yu-Dang; Tang, Xiao-Li; Meng, Hao-Tian; Wang, Hong-Dan; Jin, Rui; Yang, Chun-Hua; Yan, Jiang-Wei; Yang, Guang; Liu, Wen-Juan; Shen, Chun-Mei; Zhu, Bo-Feng

    2015-01-01

    In the present study, we presented the population genetic data and their forensic parameters of 21 non-CODIS autosomal STR loci in Chinese Guanzhong Han population. A total of 166 alleles were observed with corresponding allelic frequencies ranging from 0.0018 to 0.5564. No STR locus was observed to deviate from the Hardy-Weinberg equilibrium and linkage disequilibriums after applying Bonferroni correction. The cumulative power of discrimination and probability of exclusion of all the 21 STR loci were 0.99999999999999999993814 and 0.999998184, respectively. The results of genetic distances, phylogenetic trees and principal component analysis revealed that the Guanzhong Han population had a closer relationship with Ningxia Han, Tujia and Bai groups than other populations tested. In summary, these 21 STR loci showed a high level of genetic polymorphisms for the Guanzhong Han population and could be used for forensic applications and the studies of population genetics. PMID:25747708

  1. Disparities in Hypertension Prevalence, Awareness, Treatment and Control between Bouyei and Han: Results from a Bi-Ethnic Health Survey in Developing Regions from South China

    PubMed Central

    Dong, Fen; Wang, Dingming; Pan, Li; Yu, Yangwen; Wang, Ke; Li, Ling; Wang, Li; Liu, Tao; Zeng, Xianjia; Sun, Liangxian; Zhu, Guangjin; Feng, Kui; Zhang, Biao; Xu, Ke; Pang, Xinglong; Chen, Ting; Pan, Hui; Ma, Jin; Zhong, Yong; Ping, Bo; Shan, Guangliang

    2016-01-01

    Hypertension is highly prevalent in low-income population. This study aims to investigate ethnic disparities in hypertension and identify modifiable factors related to its occurrence and control in developing regions in South China. Blood pressure was measured in the Bouyei and Han populations during a community-based health survey in Guizhou, 2012. A multistage stratified sampling method was adopted to recruit Bouyei and Han aged from 20 to 80 years. Taking mixed effects into consideration, multilevel logistic models with random intercept were used for data analysis. The prevalence rates of hypertension were 35.3% for the Bouyei and 33.7% for the Han. Among the hypertensive participants, 30.1% of the Bouyei and 40.2% of the Han were aware of their hypertensive conditions, 19.7% of the Bouyei and 31.1% of the Han were receiving treatment, and only 3.6% of the Bouyei and 9.9% of the Han had their blood pressure under control. Age-sex standardized rates of awareness, treatment, and control were consistently lower in the Bouyei than the Han. Such ethnic disparities were more evident in the elderly population. Avoidance of excessive alcohol consumption and better education were favorable lifestyle for reduction in risk of hypertension. Moderate physical activity improved control of hypertension in Bouyei patients under treatment. Conclusively, hypertension awareness, treatment, and control were substantially lower in Bouyei than Han, particularly in the elderly population. Such ethnic disparities indicate that elderly Bouyei population should be targeted for tailored interventions in the future. PMID:26907309

  2. Disparities in Hypertension Prevalence, Awareness, Treatment and Control between Bouyei and Han: Results from a Bi-Ethnic Health Survey in Developing Regions from South China.

    PubMed

    Dong, Fen; Wang, Dingming; Pan, Li; Yu, Yangwen; Wang, Ke; Li, Ling; Wang, Li; Liu, Tao; Zeng, Xianjia; Sun, Liangxian; Zhu, Guangjin; Feng, Kui; Zhang, Biao; Xu, Ke; Pang, Xinglong; Chen, Ting; Pan, Hui; Ma, Jin; Zhong, Yong; Ping, Bo; Shan, Guangliang

    2016-02-19

    Hypertension is highly prevalent in low-income population. This study aims to investigate ethnic disparities in hypertension and identify modifiable factors related to its occurrence and control in developing regions in South China. Blood pressure was measured in the Bouyei and Han populations during a community-based health survey in Guizhou, 2012. A multistage stratified sampling method was adopted to recruit Bouyei and Han aged from 20 to 80 years. Taking mixed effects into consideration, multilevel logistic models with random intercept were used for data analysis. The prevalence rates of hypertension were 35.3% for the Bouyei and 33.7% for the Han. Among the hypertensive participants, 30.1% of the Bouyei and 40.2% of the Han were aware of their hypertensive conditions, 19.7% of the Bouyei and 31.1% of the Han were receiving treatment, and only 3.6% of the Bouyei and 9.9% of the Han had their blood pressure under control. Age-sex standardized rates of awareness, treatment, and control were consistently lower in the Bouyei than the Han. Such ethnic disparities were more evident in the elderly population. Avoidance of excessive alcohol consumption and better education were favorable lifestyle for reduction in risk of hypertension. Moderate physical activity improved control of hypertension in Bouyei patients under treatment. Conclusively, hypertension awareness, treatment, and control were substantially lower in Bouyei than Han, particularly in the elderly population. Such ethnic disparities indicate that elderly Bouyei population should be targeted for tailored interventions in the future.

  3. Association Study Between SLC15A4 Polymorphisms and Haplotypes and Systemic Lupus Erythematosus in a Han Chinese Population

    PubMed Central

    Zhang, Mingwang; Chen, Fangru; Zhang, Dongmei

    2016-01-01

    Objective: The gene SLC15A4 (solute carrier family 15 [oligopeptide transporter], member 4) has been reported as contributing to the pathogenesis of systemic lupus erythematosus (SLE). We performed a case–control replication study to investigate further the association between single-nucleotide polymorphisms (SNPs) in the SLC15A4 gene and systemic SLE in a Han Chinese population. Methods: In Han Chinese SLE patients and healthy individuals (n = 355, 375, respectively), 18 SNPs in the SLC15A4 gene were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and TaqMan SNP genotyping assays. Analyses of allele frequencies and genotypes using codominant, dominant, and recessive models were conducted, as well as a linkage disequilibrium analysis. P values < 0.05 were considered significant. Results: Allele frequencies of five of the analyzed SNPs were significantly associated with SLE. Under a codominant model the genotype frequencies of rs3765108 AG and rs7308691 AT were significantly higher in the SLE group than the control group (p = 0.019, 0.049, respectively). Under a dominant model the rs1385374 (TT+CT) SNP carried a higher risk of SLE than (CC) (p = 0.042). One SLC15A4 haplotype (TA), which consists of 2 SNPs (rs959989 and rs983492), was associated with SLE (p = 0.024). Conclusion: Our study determined that five SNPs (rs959989, rs1385374, rs983492, rs12298615, and rs10847697) are associated with SLE. Thus, SLC15A4 may be important in the pathogenesis of SLE in Han Chinese patients. PMID:27362648

  4. Correlation between PPARg2 gene Pro12Ala polymorphism and cerebral infarction in an Inner Mongolian Han Chinese population.

    PubMed

    Li, X; Zhang, B L; Zhang, X G; Su, X L

    2016-06-20

    The variant of PPAR-g2 has been shown to promote the increase of carotid IMT in patients suffering from cerebral infarction and the Pro12Ala polymorphism in the peroxisome proliferator-activated receptorg2 (PPARg2) gene may be associated with cerebral infarction. However, due to the different genetic background, race, and regional variations of cerebral infarction patient, the results of investigations into this subject differ. The aim of this study was to investigate this polymorphism in relation to cerebral infarction among the Inner Mongolian Han Chinese population. A total of 574 Han Chinese individuals from Inner Mongolian were selected randomly, including 302 patients with cerebral infarction and 272 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism was used to determine genotypes of the PPARg2 Pro12Ala variant and results were confirmed by direct sequencing. Genotype frequencies were found to be 90.7 and 91.9% for P/P, 8.6 and 7.7% for P/A, and 0.7 and 0.4 for A/A in the cerebral infarction and control groups, respectively. No statistically significant differences in genotype distribution were observed between the two groups (P > 0.05). Moreover, PPARg2 Pro12Ala genotype was not significantly associated with altered fasting blood glucose, blood pressure, or serum lipid profiles. After adjustment for gender, body mass index, and smoking habit, logistic regression was used to analyze the relationship between the Pro12Ala polymorphism and cerebral infarction (odds ratio = 0.888, 95% confidence interval = 0.106-7.460, P > 0.05), revealing that this variant was not the main pathogenic factor involved. Therefore, the Pro12Ala mutation of PPARg2 may not be associated with cerebral infarction in the Inner Mongolian Han Chinese population.

  5. TOX and CDKN2A/B Gene Polymorphisms Are Associated with Type 2 Diabetes in Han Chinese.

    PubMed

    Wei, Fengjiang; Cai, Chunyou; Feng, Shuzhi; Lv, Jia; Li, Shen; Chang, Baocheng; Zhang, Hong; Shi, Wentao; Han, Hongling; Ling, Chao; Yu, Ping; Chen, Yongjun; Sun, Ning; Tian, Jianli; Jiao, Hongxiao; Yang, Fuhua; Li, Mingshan; Wang, Yuhua; Zou, Lei; Su, Long; Li, Jingbo; Li, Ran; Qiu, Huina; Shi, Jingmin; Liu, Shiying; Chang, Mingqin; Lin, Jingna; Chen, Liming; Li, Wei-Dong

    2015-07-03

    To study associations between type 2 diabetes (T2DM) candidate genes and microvascular complications of diabetes (MVCDs), we performed case-control association studies for both T2DM and MVCDs in Han Chinese subjects. We recruited 1,939 unrelated Han Chinese T2DM patients and 918 individuals with normal blood glucose levels as nondiabetic controls. Among T2DM patients, 1116 have MVCDs, 266 have a history of T2DM of >10 years but never developed MVCDs. Eighty-two single-nucleotide polymorphisms (SNPs) in 54 candidate genes were genotyped. Discrete association studies were performed by the PLINK program for T2DM and MVCDs. Significant associations were found among candidate gene SNPs and T2DM, including rs1526167 of the TOX gene (allele A, P = 2.85 × 10(-9), OR = 1.44). The SNP rs10811661 of the CDKN2A/B gene was also associated with T2DM (allele T, P = 4.09 × 10(-7), OR = 1.36). When we used control patients with >10 years of T2DM history without MVCD, we found that the G allele of SNP rs1526167 of the TOX gene was associated with MVCD (nominal P = 4.33 × 10(-4)). In our study, significant associations were found between TOX and CDKN2A/B gene SNPs and T2DM. The TOX polymorphism might account for the higher risk of T2DM and the lower risk of MVCDs in the Han Chinese population.

  6. Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population

    PubMed Central

    Shi, Yi; Qu, Jia; Zhang, Dingding; Zhao, Peiquan; Zhang, Qingjiong; Tam, Pancy Oi Sin; Sun, Liangdan; Zuo, Xianbo; Zhou, Xiangtian; Xiao, Xueshan; Hu, Jianbin; Li, Yuanfeng; Cai, Li; Liu, Xiaoqi; Lu, Fang; Liao, Shihuang; Chen, Bin; He, Fei; Gong, Bo; Lin, He; Ma, Shi; Cheng, Jing; Zhang, Jie; Chen, Yiye; Zhao, Fuxin; Yang, Xian; Chen, Yuhong; Yang, Charles; Lam, Dennis Shun Chiu; Li, Xi; Shi, Fanjun; Wu, Zhengzheng; Lin, Ying; Yang, Jiyun; Li, Shiqiang; Ren, Yunqing; Xue, Anquan; Fan, Yingchuan; Li, Dean; Pang, Chi Pui; Zhang, Xuejun; Yang, Zhenglin

    2011-01-01

    High myopia, which is extremely prevalent in the Chinese population, is one of the leading causes of blindness in the world. Genetic factors play a critical role in the development of the condition. To identify the genetic variants associated with high myopia in the Han Chinese, we conducted a genome-wide association study (GWAS) of 493,947 SNPs in 1088 individuals (419 cases and 669 controls) from a Han Chinese cohort and followed up on signals that were associated with p < 1.0 × 10−4 in three independent cohorts (combined, 2803 cases and 5642 controls). We identified a significant association between high myopia and a variant at 13q12.12 (rs9318086, combined p = 1.91 × 10−16, heterozygous odds ratio = 1.32, and homozygous odds ratio = 1.64). Furthermore, five additional SNPs (rs9510902, rs3794338, rs1886970, rs7325450, and rs7331047) in the same linkage disequilibrium (LD) block with rs9318086 also proved to be significantly associated with high myopia in the Han Chinese population; p values ranged from 5.46 × 10−11 to 6.16 × 10−16. This associated locus contains three genes—MIPEP, C1QTNF9B-AS1, and C1QTNF9B. MIPEP and C1QTNF9B were found to be expressed in the retina and retinal pigment epithelium (RPE) and are more likely than C1QTNF9B-AS1 to be associated with high myopia given the evidence of retinal signaling that controls eye growth. Our results suggest that the variants at 13q12.12 are associated with high myopia. PMID:21640322

  7. Occurrence of endocrine disrupting compounds, pharmaceuticals, and personal care products in the Han River (Seoul, South Korea).

    PubMed

    Yoon, Yeomin; Ryu, Jaena; Oh, Jeill; Choi, Byeong-Gyu; Snyder, Shane A

    2010-01-01

    The occurrence of 31 selected endocrine disrupting compounds (EDCs) and pharmaceuticals and personal care products (PPCPs) in Korean surface waters was investigated. The area was selected since there is a lack of information in the Seoul area on the suspected contamination of rivers by micropollutants, although over 99% of drinking water is produced from surface waters in this area that has a population of approximately 15 million inhabitants. Samples were collected from upstream/downstream and effluent-dominated creeks along the Han River, Seoul (South Korea) and analyzed by liquid chromatography with tandem mass spectrometry (LC-MS/MS) with electrospray ionization (ESI) and atmospheric pressure chemical ionization (APCI). Most target compounds were detected in both the Han River samples (63%) and the effluent-dominated creek samples (79%). Iopromide, atenolol, TCPP, TECP, musk ketone, naproxen, DEET, carbamazepine, caffeine, and benzophenone were frequently detected in both river and creek samples, although the mean concentrations in effluent-dominated creek samples (102 ng/L-3745 ng/L) were significantly higher than those in river samples (56 ng/L-1013 ng/L). However, the steroid hormones 17beta-estradiol, 17alpha-ethynylestradiol, progesterone, and testosterone, were not detected (<1 ng/L) in both the river and creek samples. Numerous target compounds (15) were found to be positively correlated (over 0.8) to the conventional water quality parameters (chemical oxygen demand, biochemical oxygen demand, dissolved organic carbon, and ultraviolet absorbance). Results of this study provide increasing evidence that certain EDCs and PPCPs commonly occur in the Han River as the result of wastewater outfalls.

  8. Association of Apolipoprotein C3 Genetic Polymorphisms with the Risk of Ischemic Stroke in the Northern Chinese Han Population

    PubMed Central

    Wang, Yanzhe; Yin, Xiaoyu; Li, Lei; Deng, Shumin; He, Zhiyi

    2016-01-01

    The apolipoprotein C3 (APOC3) gene, which is a member of the APOA1/C3/A4/A5 gene cluster, plays a crucial role in lipid metabolism. Dyslipidemia is an important risk factor for ischemic stroke. In the present study, we performed a hospital-based case—control study of 895 ischemic stroke patients and 883 control subjects to examine the effects of four APOC3 single nucleotide polymorphisms (SNPs) (rs2854116, rs2854117, rs4520 and rs5128) on the risk of ischemic stroke in a northern Chinese Han population. The SNaPshot Multiplex sequencing assay was used for SNP genotyping, and the potential association of genotype distributions and allele frequencies with ischemic stroke was analyzed statistically. Compared with the GG genotype, the CC+GC genotype of rs5128 was significantly associated with an increased risk in females (adjusted OR = 3.38, 95% CI = 1.82–6.28, P <0.01) after all of the risk factors were adjusted for with logistic regression analyses. A similar relationship was found between the rs4520 polymorphism and ischemic stroke risk in Han Chinese women. Under a recessive genetic model, the TT+TC genotypes of this variant increased ischemic stroke risk (adjusted OR = 2.05; 95% CI = 1.28–3.29; P <0.01). Haplotype analysis revealed that in males, the T-C-T-C haplotype of rs2854116-rs2854117-rs4520-rs5128 was significantly more frequent in the ischemic stroke group than in the control group (OR = 1.49, 95% CI = 1.18–1.87, P<0.01). The results of our study indicate that the APOC3 polymorphisms contribute to ischemic stroke susceptibility in females in the northern Chinese Han population. PMID:27690381

  9. Tumor Necrosis Factor-alpha Induced Protein 3 Interacting Protein 1 Gene Polymorphisms and Pustular Psoriasis in Chinese Han Population

    PubMed Central

    Han, Jian-Wen; Wang, Yong; Alateng, Chulu; Li, Hong-Bin; Bai, Yun-Hua; Lyu, Xin-Xiang; Wu, Rina

    2016-01-01

    Background: Psoriasis is a common immune-mediated inflammatory dermatosis. Generalized pustular psoriasis (GPP) is the severe and rare type of psoriasis. The association between tumor necrosis factor-alpha induced protein 3 interacting protein 1 (TNIP1) gene and psoriasis was confirmed in people with multiple ethnicities. This study was to investigate the association between TNIP1 gene polymorphisms and pustular psoriasis in Chinese Han population. Methods: Seventy-three patients with GPP, 67 patients with palmoplantar pustulosis (PPP), and 476 healthy controls were collected from Chinese Han population. Six single nucleotide polymorphisms (SNPs) of the TNIP1 gene, namely rs3805435, rs3792798, rs3792797, rs869976, rs17728338, and rs999011 were genotyped by using polymerase chain reaction-ligase detection reaction. Statistical analyses were performed using the PLINK 1.07 package. Allele frequencies and genotyping frequencies for six SNPs were compared by using Chi-square test, odd ratio (OR) (including 95% confidence interval) were calculated. The haplotype analysis was conducted by Haploview software. Results: The frequencies of alleles of five SNPs were significantly different between the GPP group and the control group (P ≤ 7.22 × 10−3), especially in the GPP patients without psoriasis vulgaris (PsV). In the haplotype analysis, the most significantly different haplotype was H4: ACGAAC, with 13.1% frequency in the GPP group but only 3.4% in the control group (OR = 4.16, P = 4.459 × 10−7). However, no significant difference in the allele frequencies was found between the PPP group and control group for each of the six SNPs (P > 0.05). Conclusions: Polymorphisms in TNIP1 are associated with GPP in Chinese Han population. However, no association with PPP was found. These findings suggest that TNIP1 might be a susceptibility gene for GPP. PMID:27364786

  10. Three slow skeletal muscle troponin genes in small-tailed Han sheep (Ovis aries): molecular cloning, characterization and expression analysis.

    PubMed

    Sun, Yan; Wang, Guizhi; Ji, Zhibin; Chao, Tianle; Liu, Zhaohua; Wang, Xiaolong; Liu, Guanqing; Wu, Changhao; Wang, Jianmin

    2016-09-01

    To explore the basic characteristics and expressing profile of the three slow skeletal muscle troponin genes TNNC1 (Troponin C type 1), TNNI1 (troponin I type 1) and TNNT1 (troponin T type 1). Three purebred Dorper sheep and another three purebred small-tailed Han sheep were selected. The sequence of the genes from the small-tailed Han sheep was cloned using rapid amplification of cDNA ends and reverse transcription-polymerase chain reaction; The characteristics of the predicted amino acids sequences were analyzed using bioinformatics analysis software; Gene expression analyses were performed using quantitative reverse transcription PCR. The full-length cDNA sequences of the genes were 707, 898, and 1001 bp, respectively, and were submitted to GenBank under accession numbers KR153938, KT218688 and KT218690. The three predicted proteins were predicted to be hydrophilic, non-secretory proteins and contain several phosphorylation sites. Multiple alignments and phylogenetic tree analyses showed that the predicted proteins were relatively conserved in mammals. The expression results of the three genes in eight tissues of Dorper and small-tailed Han sheep revealed that the three genes had a similar mRNA expression pattern, whereas distinct differences were observed among the eight tissues of the two sheep species. We cloned the full-length cDNA of the three genes, analyzed the amino acid sequences, and determined the expression levels of the genes. These results might play important roles in facilitating the future research of the three genes.

  11. Genetic variants associated with lean and obese type 2 diabetes in a Han Chinese population: A case-control study.

    PubMed

    Kong, Xiaomu; Xing, Xiaoyan; Hong, Jing; Zhang, Xuelian; Yang, Wenying

    2016-06-01

    Type 2 diabetes (T2D) is highly phenotypically heterogeneous. Genetics of the heterogeneity of lean and obese T2D is not clear. The aim of the present study was to identify the associations of T2D-related genetic variants with the risks for lean and obese T2D among the Chinese Han population. A case-control study consisting of 5338 T2D patients and 4663 normal glycemic controls of Chinese Han recruited in the Chinese National Diabetes and Metabolic Disorders Study was conducted. T2D cases were identified according to the 1999 World Health Organization criteria. Lean T2D was defined as T2D patient with a body mass index (BMI) <23 kg/m, whereas obese T2D was defined as T2D patient with a BMI ≥28 kg/m. Twenty-five genome-wide association studies previously validated T2D-related single-nucleotide polymorphisms (SNPs) were genotyped. A genotype risk score (GRS) based on the 25 SNPs was created. After adjusting for multiple covariates, SNPs in or near CDKAL1, CDKN2BAS, KCNQ1, TCF7L2, CDC123/CAMK1D, HHEX, and TCF2 were associated with the risk for lean T2D, and SNPs in or near KCNQ1 and FTO were associated with the risk for obese T2D. The results showed that the GRS for 25 T2D-related SNPs was more strongly associated with the risk for lean T2D (Ptrend = 2.66 × 10) than for obese T2D (Ptrend = 2.91 × 10) in our study population. Notably, the T2D GRS contributed to lower obesity-related measurements and greater β-cell dysfunction, including lower insulin levels in oral glucose tolerance test, decreased insulinogenic index, and Homeostasis Model Assessment for β-cell Function. In conclusion, our findings identified T2D-related genetic loci that contribute to the risk of lean and obese T2D individually and additively in a Chinese Han population. Moreover, the study highlights the contribution of known T2D genomic loci to the heterogeneity of lean and obese T2D in Chinese Hans.

  12. [The archaic pronunciation of materia medica from Central Plains in the Han dynasty retained in Chinese medicinal business in Taiwan].

    PubMed

    Zhang, Xian-Zhe; Cai, Gui-Hua

    2004-10-01

    Chinese traditional medicine took its root in Taiwan together with the culture of Central Plains since our ancestors traveled to Taiwan during the turn of the Ming-Qing dynasties. For 400 years, the profession of Chinese medicine continues to develop through the transmission from fathers to sons, from tutors to disciples. During our contacts with Chinese medicinal businessmen, we found that this routinely closed and time-honored profession retained the archaic pronunciation of materia medica from Central Plains in the Han dynasty. This is a living database for studying ancient Chinese language.

  13. Association of LRRK2 R1628P variant with Parkinson’s disease in Ethnic Han-Chinese and subgroup population

    PubMed Central

    Zhang, Pei; Wang, Qingzhi; Jiao, Fengjuan; Yan, Jianguo; Chen, Lijun; He, Feng; Zhang, Qian; Tian, Bo

    2016-01-01

    Recent studies have linked certain single nucleotide polymorphisms in the leucine-rich repeat kinase 2 (LRRK2) gene with Parkinson’s disease (PD). The R1628P variant of LRRK2 may be a specific risk factor for PD in ethnic Han-Chinese populations. This study is to elucidate the epidemiological feature of R1628P in ethnic Han-Chinese population with PD. A comprehensive meta-analysis was performed to evaluate the precise association between R1628P variant and the risk for PD in ethnic Han-Chinese and subgroups stratified by gender, onset age, or family history. The analysis assessing the role of R1628P on the risk of PD in ethnic Han-Chinese supported a significant association, and the odds ratio was 1.86. We further estimate the specific prevalence in relevant ethnic Han-Chinese subgroups. After stratifying the eligible data by gender, onset age, or family history, significant associations were found in all male, female, early-onset, late-onset, familial and sporadic subgroups, and the odds ratio were 1.90, 1.94, 2.12, 1.75, 6.71 and 1.81 respectively. In conclusion, our meta-analysis suggests that R1628P variant of LRRK2 has a significant association with the risk of PD in ethnic Han-Chinese and subgroup population. PMID:27812003

  14. Dansgaard-Oeschger events and their reflection in speleothems (Hans Oeschger Medal Lecture)

    NASA Astrophysics Data System (ADS)

    Bar-Matthews, Miryam

    2013-04-01

    Speleothems in karstic cave environments form by passage of meteoric water through the overlying soils, where the water dissolves CO2 to form carbonic acid, which in turn dissolves the host-rock carbonate. Degassing of the carbonate supersaturated meteoric water leads to the formation of calcite speleothems, which therefore can be considered as the end product in the much larger sea-atmosphere-land cycle. Their stable isotopic and geochemical composition reflect the environmental conditions above the cave, which in turn depend on larger scale parameters such as isotopic composition of the rainfall source, atmospheric storm patterns, ocean-land heat transfer. In this talk I specifically address the potential of using speleothems to look at short term climatic events: the Dansgaard-Oeschger (D-O) events; rapid climate changes first observed in Greenland ice cores by Hans Oeschger with Willi Dansgaard and suggested to occur during the last glacial period. Many researches now show that D-O events are globally synchronous and can be identified in the marine and terrestrial climate records. Given, the ability to accurately date speleothems and to perform high-resolution studies of stable isotopes, trace elements and various other proxies (e.g., fluid inclusions, 'clumped isotopes' thermometry), it has become clear that speleothems enable us to better date the exact timing of D-O events and to understand the climatic response on land in different parts of the world to their occurrence, i.e., to address specific questions on the marine-atmosphere interaction, sea surface temperature, rainfall generation and their influence on human habitation and dispersal. Since the stable isotopic signal in speleothems primarily is a function of temperature and isotopic composition of rainfall, short time climatic events can be registered in fast growing speleothems. Indeed recent studies clearly demonstrate that D-O events are registered in speleothems, for example, vegetation changes

  15. Plasma Plasminogen Activator Inhibitor-1 Is Associated with End-Stage Proliferative Diabetic Retinopathy in the Northern Chinese Han Population

    PubMed Central

    Zhong, Ze-Long; Chen, Song

    2012-01-01

    Objective. To identify predictors of end-stage proliferative diabetic retinopathy (PDR) in a cohort of individuals with type 2 diabetes mellitus (T2DM) from the Northern Chinese Han population. Methods. We investigated characteristics of 153 consecutive diabetic patients with end-stage PDR (62 males, 91 females), 123 consecutive PDR patients without end-stage PDR (48 males, 75 females), and 151 normal subjects (63 males, 88 females). Only one eye of each patient or healthy subject was included in this study. Univariate logistic regression models and multivariate logistic regression models were constructed to evaluate the predictors of end-stage PDR. Results. In univariate analysis, systolic blood pressure, diastolic blood pressure, duration of diabetes, family history of T2DM, and plasminogen activator inhibitor-1 (PAI-1) were significently associated with end-stage PDR. After multivariate analysis, family history of T2DM, plasma PAI-1 levels, smoking, and duration of diabetes were four positive predictors associated with end-stage PDR. Conclusions. Higher plasma levels of PAI-1 were associated with end-stage PDR in the Northern Chinese Han population with T2DM. PMID:23304115

  16. Analysis of the genetic association between IL27 variants and coronary artery disease in a Chinese Han population

    PubMed Central

    Fan, Qian; Nie, Shaofang; Li, Sihui; Liao, Yuhua; Zhang, Hongsong; Zha, Lingfeng; Wang, Fan; Tang, Tingting; Xia, Ni; Xu, Chengqi; Wang, Pengyun; Xie, Tian; Xie, Jiangjiao; Lu, Qiulun; Li, Qingxian; Qian, Jin; Li, Bin; Wu, Gang; Wu, Yanxia; Yang, Yan; Wang, Qing K.; Tu, Xin; Cheng, Xiang

    2016-01-01

    Interleukin-27 (IL-27) is an important cytokine in inflammatory diseases, including coronary artery disease (CAD). To explore the precise role of IL-27 in CAD, we investigated the genetic association between IL27 and CAD in the GeneID Chinese Han population. A two-stage case control association analysis was performed for 3075 CAD cases and 2802 controls. Logistic regression analysis was used to adjust the traditional risk factors for CAD. Results showed that a promoter variant, rs153109, tended to be marginally associated with CAD in the discovery population (Padj = 0.028, OR = 1.27, 95%CI: 1.03–1.58). However, this association was not replicated in the validation stage (Padj = 0.559, OR = 1.04, 95%CI: 0.90–1.21). In addition, when we classified the combined population into two subgroups according to the age at disease onset or disease state, we again obtained no significant associations. Finally, we estimated the severity of coronary stenosis using the Gensini Scoring system and determined that the rs153109 genotypes were still not associated with the Gensini scores of the CAD patients. In conclusion, our study failed to find an association between common variants in the functional region of IL27 and CAD in a Chinese Han population, which indicated that IL-27 might only be an inflammatory marker during the development of CAD. PMID:27174010

  17. Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans.

    PubMed

    Pang, Xiuhong; Chai, Yongchuan; Sun, Lianhua; Chen, Dongye; Chen, Ying; Zhang, Zhihua; Wu, Hao; Yang, Tao

    2014-01-01

    Dominant mutations in GJB2 may lead to various degrees of sensorineural hearing impairment and/or hyperproliferative epidermal disorders. So far studies of dominant GJB2 mutations were mostly limited to case reports of individual patients and families. In this study, we identified 7 families, 11 subjects with dominant GJB2 mutations by sequencing of GJB2 in 2168 Chinese Han probands with sensorineural hearing impairment and characterized the associated spectrum, de novo rate and genotype-phenotype correlation. We identified p.R75Q, p.R75W and p.R184Q as the most frequent dominant GJB2 mutations among Chinese Hans, which had a very high de novo rate (71% of probands). A majority (10/11) of subjects carrying dominant GJB2 mutations exhibited palmoplantar keratoderma in addition to hearing impairment. In two families segregated with additional c.235delC or p.V37I mutations of GJB2, family members with the compound heterozygous mutations exhibited more severe phenotype than those with single dominant GJB2 mutation. Our study suggested that the high de novo mutation rate gives rise to a significant portion of dominant GJB2 mutations. The severity of the hearing and epidermal phenotypes associated with dominant GJB2 mutations may be modified by additional recessive mutations of GJB2.

  18. 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project

    PubMed Central

    Cai, Na; Bigdeli, Tim B.; Kretzschmar, Warren W.; Li, Yihan; Liang, Jieqin; Hu, Jingchu; Peterson, Roseann E.; Bacanu, Silviu; Webb, Bradley Todd; Riley, Brien; Li, Qibin; Marchini, Jonathan; Mott, Richard; Kendler, Kenneth S.; Flint, Jonathan

    2017-01-01

    The China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) project on Major Depressive Disorder (MDD) sequenced 11,670 female Han Chinese at low-coverage (1.7X), providing the first large-scale whole genome sequencing resource representative of the largest ethnic group in the world. Samples are collected from 58 hospitals from 23 provinces around China. We are able to call 22 million high quality single nucleotide polymorphisms (SNP) from the nuclear genome, representing the largest SNP call set from an East Asian population to date. We use these variants for imputation of genotypes across all samples, and this has allowed us to perform a successful genome wide association study (GWAS) on MDD. The utility of these data can be extended to studies of genetic ancestry in the Han Chinese and evolutionary genetics when integrated with data from other populations. Molecular phenotypes, such as copy number variations and structural variations can be detected, quantified and analysed in similar ways. PMID:28195579

  19. Association and gene-gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population.

    PubMed

    Shen, Yidong; Xun, Guanglei; Guo, Hui; He, Yiqun; Ou, Jianjun; Dong, Huixi; Xia, Kun; Zhao, Jingping

    2016-04-01

    Autism is a neurodevelopmental disorder with unclear etiology. Reelin had been proposed to participate in the etiology of autism due to its important role in brain development. The goal of this study was to explore the association and gene-gene interactions of reelin signaling pathway related genes (RELN, VLDLR, LRP8, DAB1, FYN, and CDK5) with autism in Han Chinese population. Genotyping data of the six genes were obtained from a recent genome-wide association study performed in 430 autistic children who fulfilled the DSM-IV-TR criteria for autistic disorder, and 1,074 healthy controls. Single marker case-control association analysis and haplotype case-control association analysis were conducted after the data was screened. Multifactor dimensionality reduction (MDR) was applied to further test gene-gene interactions. Neither the single marker nor the haplotype association tests found any significant difference between the autistic group and the control group after permutation test of 1,000 rounds. The 4-locus MDR model (comprising rs6143734, rs1858782, rs634500, and rs1924267 which belong to RELN and DAB1) was determined to be the model with the highest cross-validation consistency (CVC) and testing balanced accuracy. The results indicate that an interaction between RELN and DAB1 may increase the risk of autism in the Han Chinese population. Furthermore, it can also be inferred that the involvement of RELN in the etiology of autism would occur through interaction with DAB1.

  20. Correlation between Serum Level of Monocyte Chemoattractant Protein-1 and Postoperative Recurrence of Spinal Tuberculosis in the Chinese Han Population

    PubMed Central

    He, Dan; Zhang, Xiaolu; Gao, Qile; Huang, Rongfu; Deng, Zhansheng; Guo, Chaofeng; Guo, Qiang; Huang, Jia; Zhang, Hongqi

    2015-01-01

    Objective To correlate serum level of monocyte chemoattractant protein-1 (MCP-1) with postoperative recurrence of spinal tuberculosis in the Chinese Han population. Methods Patients of Han nationality with newly diagnosed spinal tuberculosis were consecutively included in this study. At different time points postoperatively, serum level of MCP-1 was determined using an enzyme linked immunosorbent assay. Recurrence of spinal tuberculosis after surgery and during the follow-up period was recorded. The correlation between serum MCP-1 level and recurrence of spinal tuberculosis was analyzed. Results A total of 169 patients with spinal tuberculosis were included in the study and followed up for an average of2.2±1.3 years (range, 1–5 years). Of these patients, 11 had postoperative recurrence of spinal tuberculosis. The patients’ serum level of MCP-1 increased significantly after postoperative recurrence of spinal tuberculosis. Once the symptoms of recurrence were cured, the serum level of MCP-1 decreased significantly and it did not differ from patients without disease recurrence. Conclusion Postoperative recurrence of spinal tuberculosis is likely to increase the serum level of MCP-1. PMID:25962150

  1. Polymorphisms in protein disulfide isomerase are associated with sporadic amyotrophic lateral sclerosis in the Chinese Han population.

    PubMed

    Yang, Qin; Guo, Zhi-bao

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease that targets the motor system; it is caused by the loss of motor neurons in the spinal cord, brain stem, and cerebral cortex. However, the etiology of ALS remains unknown, although genetic factors may play an important role in its development. The purpose of this study was to investigate the association between common polymorphisms in protein disulfide isomerase (PDI) with sporadic amyotrophic lateral sclerosis (SALS) in a Chinese Han population. Two single nucleotide polymorphisms (SNPs) in P4HB (rs876016 and rs2070872) were genotyped in 322 patients with SALS and 265 control subjects using polymerase chain reaction-restriction fragment length polymorphism. Our results showed that SNPs rs876016 and rs2070872 were significantly associated with ALS. The minor allele frequencies of rs876016 (C) and rs2070872 (G) were significantly higher in patients with sporadic ALS than in control subjects (P = 0.035 and 0.003, respectively). The genotype frequencies of rs876016 and rs2070872 were significantly different between SALS patients and control subjects (genotypic P < 0.001). Individuals carrying rs876016/ rs2070872 C/G genotypes were associated with a significantly increased risk of SALS. These results suggest that common variants in PDI might contribute to the development of SALS in the Chinese Han population.

  2. Epidemiology, species distribution, antifungal susceptibility, and ERG11 mutations of Candida species isolated from pregnant Chinese Han women.

    PubMed

    Yang, L; Su, M Q; Ma, Y Y; Xin, Y J; Han, R B; Zhang, R; Wen, J; Hao, X K

    2016-04-28

    The widespread use of antifungal agents has led to increasing azole resistance in Candida species. A major azole-resistance mechanism involves point mutations in the ERG11 gene, which encodes cytochrome P450 lanosterol 14a-demethylase. In this study, vaginal swabs were obtained from 657 pregnant Chinese Han women and cultured appropriately. The open reading frame of the obtained fungal species were amplified by PCR and sequenced; additionally, the ERG11 gene of the isolated Candida species was amplified and sequenced, and the antifungal susceptibility of the isolated species was determined. The vaginal swabs of 124 women produced fungal cultures; five species of Candida were isolated from the patients, among which Candida albicans was predominant. Twelve C. albicans isolates (13.8%) were resistant to fluconazole and 2 (2.2%) were resistant to itraconazole. Seventeen mutations, including 9 silent and 8 missense mutations, were identified in the ERG11 gene of 31 C. albicans isolates. Our findings suggest that infection caused by C. albicans and non-C. albicansis common in Chinese Han women of reproductive age. Moreover, the relationship between Candida infection and certain epidemiological factors emphasizes the need to educate women about the precise diagnosis and punctual treatment of vaginitis.

  3. Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese

    PubMed Central

    2016-01-01

    Purpose. This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) of JAK-STAT signaling pathway genes and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS) in the Han Chinese population. Methods. Eleven SNPs of the JAK1, JAK2, STAT1, IRF1, and NOS2 genes were analyzed in 443 AAU patients with AS, 486 AAU patients without AS, and 714 healthy controls. Genotyping was performed by PCR-RFLP assay or TaqMan® probe assay. The Chi-squared (χ2) test and multivariate logistic regression analysis were used to compare the distributions of alleles and genotypes between patients and controls. P values were adjusted using Bonferroni correction. Results. We did not observe significant differences in the genotype and allele frequencies of any SNP between AAU patients with or without AS and healthy controls. Stratification analyses by gender and HLA-B27 status showed a boundary significant association between two SNPs (rs10975003 and rs10758669) in JAK2 and AAU (P = 0.052 and P = 0.053, resp.). Conclusions. Our results indicated that genetic polymorphisms of the JAK-STAT signaling pathway genes may not be associated with AAU in the Han Chinese population. PMID:27965977

  4. Influence of culture on tripartite self-concept development in adolescence: a comparison between Han and Uyghur cultures.

    PubMed

    Abdukeram, Ziwida; Mamat, Marhaba; Luo, Wei; Wu, Yanhong

    2015-02-01

    This study investigated the development of cultural variability in interdependent self-construal by comparing the differences in the tripartite self-concept of adolescent samples from the Han and Uyghur cultures. Participants (460 males, 522 females; M age = 16.3 yr., SD = 4.8) in the sub-phases of pre-, early-, mid-, late- and post-adolescence were asked to completed the revised Twenty Statements Test, and the items generated by the participants were coded into private, relational, and collective self-statements. The private self-statements were further differentiated by personal and social orientation, and the relational self-statements were further coded into family and friend focus. The relational aspect of an individual's self, or personal relationship, became increasingly important with age in the Han cultural groups, whereas the collective aspect of an individual's self, or social identity, became increasingly important with age in the Uyghur cultural groups. These findings seem to show the development of differences between relational and collective interdependent self-construals. Furthermore, these findings emphasize the need for further research into the development of within-cultural differences in self-construal.

  5. Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population.

    PubMed

    Liu, H C; Zhang, J; Wong, S; Han, D; Zhao, H S; Feng, H L

    2014-04-03

    Tooth agenesis is one of the most common anomalies of human dentition. Recent genetic studies have provided information regarding a number of genes related to both syndromic and non-syndromic forms of hypodontia. In a previous study, we found that polymorphism in rs11001553 of DKK1 was associated with hypodontia in the Chinese Han population. In this study, we extended this investigation to 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females). These individuals were analyzed with 268 subjects (123 males and 145 females) diagnosed with non-syndromic hypodontia and 190 healthy control subjects (99 males and 91 females). DNA was obtained from whole blood or saliva samples and genotyping was performed by matrix-assisted laser desorption ionization-time of flight mass spectrometry. Significant differences were observed in the allele and genotype frequencies of rs11001553 of DKK1. These data demonstrated an association between rs11001553 of DKK1, a tooth development-associated gene, and non-syndromic tooth agenesis in Chinese Han individuals. This information may provide further understanding of the molecular mechanisms of tooth agenesis. Furthermore, DKK1 can be regarded as a marker gene for the risk of tooth agenesis.

  6. Genetic polymorphism of interleukin-6 influences susceptibility to HBV-related hepatocellular carcinoma in a male Chinese Han population.

    PubMed

    Tang, Shengli; Yuan, Yufeng; He, Yueming; Pan, Dingyu; Zhang, Yongxi; Liu, Yuanyuan; Liu, Quanyan; Zhang, Zhonglin; Liu, Zhisu

    2014-04-01

    As a multifunctional cytokine, interleukin-6 (IL-6) plays a key role in chronic inflammation as well as tumor growth and progression of hepatitis B virus (HBV) infection. Recent studies have implicated that single nucleotide polymorphism (SNP) -572C>G (rs1800796) located within the promoter region of IL-6 gene was associated with susceptibility to several diseases. Here, a case-control study was undertaken to investigate the association between this polymorphism and HBV-related hepatocellular carcinoma (HCC) susceptibility in a Chinese Han population. A total of 900 patients with chronic HBV infection, including 505 HBV-related HCC patients and 395 HBV infected patients without HCC were enrolled, and rs1800796 polymorphism was genotyped by the TaqMan method and DNA sequencing technology. The results indicated no significant association between rs1800796 polymorphism and the risk of HBV-related HCC in all subjects; however, a significant difference was identified in male subjects. Under the dominant model, male subjects with the G allele (CG/GG) have higher susceptibility to HBV-related HCC than those with CC genotype after adjusting confounding factors (P=0.012, odds ratio [OR] 1.68, 95% confidence interval [95% CI] 1.15-2.42). Our results suggested that rs1800796 polymorphism of IL-6 gene was associated with susceptibility to HBV-related HCC in a male Chinese Han population.

  7. Association of BCL2-938C>A genetic polymorphism with glioma risk in Chinese Han population.

    PubMed

    Li, Wei; Qian, Chunfa; Wang, Linxiong; Teng, Hong; Zhang, Li

    2014-03-01

    Glioma is the most common type of primary brain malignancy in adults. The anti-apoptotic protein B-cell lymphoma 2 (BCL2) has been implicated in the pathogenesis of glioma. This study aimed to evaluate the potential association between BCL2-938C>A genetic polymorphism and glioma susceptibility. This case-control study was conducted in Chinese Han populations consisting of 248 glioma cases and 252 cancer-free controls. The BCL2-938C>A genetic polymorphism was detected by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and verified using DNA sequencing methods. Our data suggested that the genotype/allele of BCL2-938C>A polymorphism were statistically associated with the increased risk of glioma where the risk of glioma for genotype AA or allele A is significantly higher than wild genotype CC (odds ratio (OR) = 2.23, 95% confidence interval (CI) 1.21-4.10, p = 0.009) or allele C (OR = 1.39, 95% CI 1.06-1.82, p = 0.016), respectively. In addition, the BCL2-938AA genotype was significantly more common in patients with glioblastoma and in patients with grade IV glioma. Our findings indicate that the BCL2-938C>A polymorphism is associated with the susceptibility to glioma in Chinese Han populations and might be used as molecular markers for evaluating glioma risk.

  8. 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project.

    PubMed

    Cai, Na; Bigdeli, Tim B; Kretzschmar, Warren W; Li, Yihan; Liang, Jieqin; Hu, Jingchu; Peterson, Roseann E; Bacanu, Silviu; Webb, Bradley Todd; Riley, Brien; Li, Qibin; Marchini, Jonathan; Mott, Richard; Kendler, Kenneth S; Flint, Jonathan

    2017-02-14

    The China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) project on Major Depressive Disorder (MDD) sequenced 11,670 female Han Chinese at low-coverage (1.7X), providing the first large-scale whole genome sequencing resource representative of the largest ethnic group in the world. Samples are collected from 58 hospitals from 23 provinces around China. We are able to call 22 million high quality single nucleotide polymorphisms (SNP) from the nuclear genome, representing the largest SNP call set from an East Asian population to date. We use these variants for imputation of genotypes across all samples, and this has allowed us to perform a successful genome wide association study (GWAS) on MDD. The utility of these data can be extended to studies of genetic ancestry in the Han Chinese and evolutionary genetics when integrated with data from other populations. Molecular phenotypes, such as copy number variations and structural variations can be detected, quantified and analysed in similar ways.

  9. Polymorphism of HDAC9 Gene Is Associated with Increased Risk of Acute Coronary Syndrome in Chinese Han Population.

    PubMed

    Han, Zhenhua; Dong, Xin; Zhang, Chaoying; Wu, Yue; Yuan, Zuyi; Wang, Xinhong

    2016-01-01

    Recent genome-wide association studies (GWAS) have indicated an association of histone deacetylase 9 (HDAC9) genetic variant with large-vessel stroke and coronary artery disease, among the European population. However, whether HDAC9 gene is associated with an increased susceptibility to acute coronary syndrome (ACS) in Chinese Han population is not known. A total of 472 patients, including patients with ACS (N = 309), and those with chest pain syndrome (controls, N = 163) were enrolled. Genotyping for HDAC9 gene was performed using the ligation detection reaction assay. A series of statistical analyses were performed to investigate the correlation between HDAC9 gene SNPs and the susceptibility to ACS. The results revealed a significant association of rs2240419 with ACS risk in which the A allele (P = 0.047) and the A allele carriers (AA + AG) (P = 0.037) were more likely to be in ACS group as compared to those in the control group. None of two other SNPs, rs2389995 and rs2107595, were significantly associated with ACS risk (P > 0.05). Logistic regression analyses further revealed an increased risk for ACS in A allele carrier among rs2240419 genotypes, as compared to those with GG homozygotes (odds ratio: 1.869, 95% CI 1.143, 3.056, P = 0.013). A significant correlation between rs2240419 polymorphism of HDAC9 gene and the susceptibility to ACS in Chinese Han population was observed in this study.

  10. Association of mineralization-related genes TNAP and ANKH polymorphisms with ankylosing spondylitis in the Chinese Han population.

    PubMed

    Liu, Zeying; Cui, Yazhou; Zhou, Xiaoyan; Zhang, Xiumei; Han, Jinxiang

    2013-04-01

    The aim of this study was to investigate two mineralization-related genes TNAP and ANKH polymorphisms associated with ankylosing spondylitis (AS) in the North Chinese Han population. We carried out a case-control study in Chinese AS cohorts involving 278 AS patients and 286 unrelated healthy controls. Five TNAP SNPs (rs3200254, rs1256348, rs1472563, rs1780329, rs3767155) and four ANKH SNPs (rs25957, rs26307, rs27356, rs28006) were genotyped by the Multiplex Snapshot method. There were significant differences in genotype (permutated p = 0.00481) and allele (permutated p = 0.0126) frequencies of the rs26307 ANKH SNP between AS patients and controls. Logistic regression analysis suggested an association of AS with the polymorphism in an additive model (OR = 0.640, 95%CI = 0.480-0.853, p = 0.0023, permutation 10,000 corrected p = 0.0158) and a dominant model (OR = 0.599, 95%CI = 0.423-0.846, p = 0.0037, permutation 10,000 corrected p = 0.022). Haplotype analysis identified the ANKH haplotype rs26307(C)/rs27356 (T) as a predisposing factor for AS (OR = 1.53, 95%CI = 1.165-2.071, p = 0.0026, permutation 10,000 corrected p = 0.0103). This study provides evidence that variation in the ANKH gene influences susceptibility to AS in the Northern Han Chinese population.

  11. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.

    PubMed

    Han, Jian-Wen; Zheng, Hou-Feng; Cui, Yong; Sun, Liang-Dan; Ye, Dong-Qing; Hu, Zhi; Xu, Jin-Hua; Cai, Zhi-Ming; Huang, Wei; Zhao, Guo-Ping; Xie, Hong-Fu; Fang, Hong; Lu, Qian-Jin; Xu, Jian-Hua; Li, Xiang-Pei; Pan, Yun-Feng; Deng, Dan-Qi; Zeng, Fan-Qin; Ye, Zhi-Zhong; Zhang, Xiao-Yan; Wang, Qing-Wen; Hao, Fei; Ma, Li; Zuo, Xian-Bo; Zhou, Fu-Sheng; Du, Wen-Hui; Cheng, Yi-Lin; Yang, Jian-Qiang; Shen, Song-Ke; Li, Jian; Sheng, Yu-Jun; Zuo, Xiao-Xia; Zhu, Wei-Fang; Gao, Fei; Zhang, Pei-Lian; Guo, Qing; Li, Bo; Gao, Min; Xiao, Feng-Li; Quan, Cheng; Zhang, Chi; Zhang, Zheng; Zhu, Kun-Ju; Li, Yang; Hu, Da-Yan; Lu, Wen-Sheng; Huang, Jian-Lin; Liu, Sheng-Xiu; Li, Hui; Ren, Yun-Qing; Wang, Zai-Xing; Yang, Chun-Jun; Wang, Pei-Guang; Zhou, Wen-Ming; Lv, Yong-Mei; Zhang, An-Ping; Zhang, Sheng-Quan; Lin, Da; Li, Yi; Low, Hui Qi; Shen, Min; Zhai, Zhi-Fang; Wang, Ying; Zhang, Feng-Yu; Yang, Sen; Liu, Jian-Jun; Zhang, Xue-Jun

    2009-11-01

    We performed a genome-wide association study (GWAS) of systemic lupus erythematosus (SLE) in a Chinese Han population by genotyping 1,047 cases and 1,205 controls using Illumina Human610-Quad BeadChips and replicating 78 SNPs in two additional cohorts (3,152 cases and 7,050 controls). We identified nine new susceptibility loci (ETS1, IKZF1, RASGRP3, SLC15A4, TNIP1, 7q11.23, 10q11.22, 11q23.3 and 16p11.2; 1.77 x 10(-25) < or = P(combined) < or = 2.77 x 10(-8)) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 x 10(-42) < or = P(combined) < or = 5.18 x 10(-12)). Comparison with previous GWAS findings highlighted the genetic heterogeneity of SLE susceptibility between Chinese Han and European populations. This study not only advances our understanding of the genetic basis of SLE but also highlights the value of performing GWAS in diverse ancestral populations.

  12. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

    PubMed Central

    Sun, Lianhua; Li, Xiaohua; Shi, Jun; Pang, Xiuhong; Hu, Yechen; Wang, Xiaowen; Wu, Hao; Yang, Tao

    2016-01-01

    Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively. Nineteen of the 26 detected mutations were novel. In WS2 probands whose parental DNA samples were available, de novo mutations were frequently seen for SOX10 mutations (7/8) but not for MITF mutations (0/5, P = 0.005). Excessive freckle, a common feature of WS2 in Chinese Hans, was frequent in WS2 probands with MITF mutations (7/10) but not in those with SOX10 mutations (0/13, P = 4.9 × 10−4). Our results showed that mutations in SOX10 and MITF are two major causes for deafness associated with WS2. These two subtypes of WS2 can be distinguished by the high de novo rate of the SOX10 mutations and the excessive freckle phenotype exclusively associated with the MITF mutations. PMID:27759048

  13. Association of GDF5, SMAD3 and RUNX2 polymorphisms with temporomandibular joint osteoarthritis in female Han Chinese.

    PubMed

    Xiao, J-L; Meng, J-H; Gan, Y-H; Zhou, C-Y; Ma, X-C

    2015-07-01

    Temporomandibular joint osteoarthritis (TMJOA) is a complex disease and has a strong genetic component in its pathogenesis. Experimental evidence suggests the involvement of biological pathway in the disease. This case-control study was designed to investigate whether five common single nucleotide polymorphisms (SNPs) in GDF5, SMAD3, RUNX2, TGFβ1 and CHST11, respectively, are associated with TMJOA in female Han Chinese patients. A total of 240 participants were evaluated comprising 114 female patients diagnosed with TMJOA based on Research Diagnostic Criteria for Temporomandibular Disorders and 126 healthy female controls. The SNPs of the five genes in the genomic DNA were examined by sequencing, and their allelic, genotypic and carriage rate frequency distributions, as well as the triple combination of the risk genotypes, were analysed using the logistic regression model. The SNP in GDF5 or SMAD3 showed significant association with TMJOA, a relatively weak association was observed in RUNX2. In the triple combinational analysis, the risk of TMJOA grew 5·09 times in the patients with five or six risk alleles (P < 0·01). This is the first study to evaluate the association of GDF5, SMAD3, RUNX2, TGFβ1 and CHST11 with TMJOA in female Han Chinese. Our study suggests that the SNPs of genes related to TGFβ family might contribute to the risk of TMJOA.

  14. The CRHR1 gene contributes to genetic susceptibility of aggressive behavior towards others in Chinese southwest Han population.

    PubMed

    Chen, Bifeng; Gu, Tao; Ma, Bo; Zheng, Guoqing; Ke, Bingxiong; Zhang, Xiufeng; Zhang, Lirui; Wang, Yuanyuan; Hu, Liping; Chen, Yang; Qiu, Jianbo; Nie, Shengjie

    2014-04-01

    Accumulating evidence suggests that the hypothalamic-pituitary-adrenal (HPA) axis might play a major role in genetic susceptibility of aggressive behavior. The aim of the present study is to investigate the association between corticotrophin-releasing hormone receptor 1 (CRHR1) gene and aggressive behavior in Chinese southwest Han population. Participants consist of 282 healthy controls and 177 violent criminals (including robbery and intentional injury, which represent for aggressive behavior towards property and aggressive behavior towards others). Three tag single nucleotide polymorphisms (SNPs) of CRHR1 gene including rs4458044, rs242924, and rs1768996 were genotyped using improved multiplex ligase detection reaction (iMLDR) methods. Single-locus analysis revealed that none of the studied SNPs was significantly associated with the risk of aggressive behavior; however, haplotype analysis showed that a haplotype GGA significantly increased the susceptibility of aggressive behavior towards others with an odds ratios equal to 3.32 (p = 0.003). The present results, for the first time, indicate that the CRHR1 gene polymorphism is significantly associated with aggressive behavior in Chinese southwest Han population. Subjects with GGA haplotype have an increased susceptibility to aggressive behavior towards others.

  15. Genetic variants in the acylphosphatase 2 gene and the risk of breast cancer in a Han Chinese population

    PubMed Central

    Deng, Zhiping; Xu, Pengcheng; Zhang, Xiyang; Jin, Tianbo; Liu, Qiufang

    2016-01-01

    We performed a case-control study to investigate the associations between seven single nucleotide polymorphisms (SNPs) in the acylphosphatase 2 (ACYP2) gene and breast cancer (BC) risk in a Han Chinese population. There were 183 BC cases and 195 healthy controls included in the study. The SNPs were genotyped using the Sequenom MassARRAY platform. Logistic regression (adjusted for age group, body mass index [BMI], and menopause status), was used to evaluate the associations between the various genotypes and BC risk. Statistical analysis revealed that rs12621038 was associated with a decreased risk of BC in the allele (T vs. C: odds ratio [OR] = 0.71, 95% confidence interval [95% CI] = 0.52–0.94; p = 0.016), homozygous (TT vs. CC: OR = 0.47, 95% CI = 0.24–0.85; p = 0.014), dominant (OR = 0.62; 95% CI = 0.40−0.96; p = 0.032), and additive (OR = 0.68; 95% CI = 0.50–0.92; p = 0.012) models. In addition, we found that rs1682111 and rs17045754 were associated with the risk of BC and correlated with recurrence, and that rs6713088 correlated with tumor size. In sum, our findings reveal significant associations between SNPs in the ACYP2 gene and BC risk in a Han Chinese population. PMID:27894080

  16. Association between single nucleotide polymorphisms in the TSPYL6 gene and breast cancer susceptibility in the Han Chinese population

    PubMed Central

    Guo, Wen; Zhang, Xiyang; Chen, Zhengshuai; Li, Jingjie; Yan, Mengdan; Chen, Chao; Jin, Tianbo

    2016-01-01

    We investigated the associations between single nucleotide polymorphisms (SNPs) in the testis-specific Y-encoded-like protein 6 (TSPYL6) gene and breast cancer (BC) susceptibility in the Han Chinese population. A total of 183 BC patients and 195 healthy women were included in the study. Six SNPs in TSPYL6 were genotyped and the association with BC risk analyzed. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using unconditional logistic regression analysis. Multivariate logistic regression analysis was used to identify SNPs that correlated with BC susceptibility. Rs11896604 was associated with a decreased risk of BC based on dominant and genotype models. Rs843706 was associated with an increased risk of BC based on a recessive model. Rs11125529 was associated with decreased BC susceptibility based on a genotype model. Finally, rs843711 inversely correlated with clinical stage III/IV BC. Our findings reveal a significant association between SNPs in the TSPYL6 gene and BC risk in a Han Chinese population. PMID:27458158

  17. Gender-Specific Association of ATP2B1 Variants with Susceptibility to Essential Hypertension in the Han Chinese Population.

    PubMed

    Xu, Jin; Qian, Hai-xia; Hu, Su-pei; Liu, Li-ya; Zhou, Mi; Feng, Mei; Su, Jia; Ji, Lin-dan

    2016-01-01

    Previous genome-wide association studies (GWASs) found that several ATP2B1 variants are associated with essential hypertension (EHT). But the "genome-wide significant" ATP2B1 SNPs (rs2681472, rs2681492, rs17249754, and rs1105378) are in strong linkage disequilibrium (LD) and are located in the same LD block in Chinese populations. We asked whether there are other SNPs within the ATP2B1 gene associated with susceptibility to EHT in the Han Chinese population. Therefore, we performed a case-control study to investigate the association of seven tagSNPs within the ATP2B1 gene and EHT in the Han Chinese population, and we then analyzed the interaction among different SNPs and nongenetic risk factors for EHT. A total of 902 essential hypertensive cases and 902 normotensive controls were involved in the study. All 7 tagSNPs within the ATP2B1 gene were retrieved from HapMap, and genotyping was performed using the Tm-shift genotyping method. Chi-squared test, logistic regression, and propensity score analysis showed that rs17249754 was associated with EHT, particularly in females. The MDR analysis demonstrated that the interaction of rs2070759, rs17249754, TC, TG, and BMI increased the susceptibility to hypertension. Crossover analysis and stratified analysis indicated that BMI has a major effect on the development of hypertension, while ATP2B1 variants have a minor effect.

  18. Prevalence of valvular heart diseases and associated risk factors in Han, Uygur and Kazak population in Xinjiang, China

    PubMed Central

    Maimaiti, Ailifeire; Adi, Dilare; Yang, Yi-Ning; Li, Xiao-Mei; Ma, Xiang; Liu, Fen; Chen, Bang-Dang

    2017-01-01

    Background Valvular heart diseases (VHD) is very common in clinical practice and has became the subject of growing attention in the field of cardiovascular medicine. Our aim was to assess the prevalence and correlates of VHD in the general population in Xinjiang, China. Methods Using a 4-stage stratified cluster random sampling method, a total of 14618 participants were recruited in the Cardiovascular Risk Survey (CRS) study. The participants’ personal information, medical history were assessed by questionnaire. VHD was diagnosed by transthoracic echocardiography. We carried out the statistical analysis utilizing SPSS Statistics version 19.0. Results In the total study group, VHD was observed in 1397 (9.65%) individuals. The prevalence rates of VHD in Han, Uygur and Kazak group are 13.51%, 2.71% and 12.29% respectively. The prevalence rates of VHD increased strikingly with age (all P < 0.001). The results of multinomial regression analysis indicated that VHD were related to age in Han group, to age smoking and hypertension in Uygur group, to age and hypertension in Kazak group. Conclusion Our research provides a unique prevalence rate of VHD in Xinjiang natural population. The result suggests that VHD are notably common in this population (9.65%) and increase with age. There exists significant difference of prevalence rate between ethnics. The main risk factors of VHD are age, hypertension and smoking. Valvular heart diseases should be regarded as a serious and growing public-health problem. PMID:28355290

  19. Genetic Variants in PNPLA3 and Risk of Non-Alcoholic Fatty Liver Disease in a Han Chinese Population

    PubMed Central

    Lin, Shao-Wei; Lu, Qing-Qing; Hu, Zhi-Jian; Lin, Xu

    2012-01-01

    We investigated the possible association between genetic variants in the Patatin like phospholipase-3 (PNPLA3) gene and nonalcoholic fatty liver disease (NAFLD) in a Han Chinese population. We evaluated twelve tagging single-nucleotide polymorphisms (tSNPs) of the PNPLA3 gene in a frequency matched case–control study from Fuzhou city of China (553 cases, 553 controls). In the multivariate logistic regression analysis, the rs738409 GG or GC, and rs139051 TT genotypes were found to be associated with increased risk of NAFLD, and a significant trend of increased risk with increasing numbers of risk genotype was observed in the cumulative effect analysis of these single nucleotide polymorphisms. Furthermore, haplotype association analysis showed that, compared with the most common haplotype, the CAAGAATGCGTG and CGAAGGTGTCCG haplotypes conferred a statistically significant increased risk for NAFLD, while the CGGGAACCCGCG haplotype decreased the risk of NAFLD. Moreover, rs738409 C>G appeared to have a multiplicative joint effect with tea drinking (P<0.005) and an additive joint effect with obesity (Interaction contrast ratio (ICR) = 2.31, 95% CI: 0.7–8.86), hypertriglyceridemia (ICR = 3.07, 95% CI: 0.98–5.09) or hypertension (ICR = 1.74, 95% CI: 0.52–3.12). Our data suggests that PNPLA3 genetic polymorphisms might influence the susceptibility to NAFLD development independently or jointly in Han Chinese. PMID:23226254

  20. Genetic variants in the ZNF208 gene are associated with esophageal cancer in a Chinese Han population

    PubMed Central

    Wang, Huijie; Yu, Jianzhong; Guo, Yanling; Zhang, Zhengxing; Liu, Guoqi; Li, Jingjie; Zhang, Xiyang; Jin, Tianbo; Wang, Zhaoxia

    2016-01-01

    Previous studies showed an association between the ZNF208 gene and gastric cancer. In this study, we investigated the association between single nucleotide polymorphisms (SNPs) in ZNF208 and the risk of esophageal cancer in a Chinese Han population. We conducted a case-control study that included 386 cases and 495 controls. Five SNPs were selected from previous genome-wide association studies and genotyped using the Sequenom MassARRAY platform. Unconditional logistic regression was used to calculate odds ratios and 95% confidence intervals after adjustment for age and gender. Logistic regressionl analysis showed that two SNPs (rs8103163 and rs7248488) were associated with an increased risk of esophageal cancer under different inheritance models after Bonferroni correction. Haplotype analysis suggested that the four variants comprised one block, and that the Grs2188972Crs2188971Crs8103163Crs7248488 haplotype was significantly correlated with an increased risk of esophageal cancer. Our data indicate that variants in ZNF208 are contribute to the susceptibility to esophageal cancer in a Chinese Han population. PMID:27907911

  1. Endochondral ossification pathway genes and postmenopausal osteoporosis: Association and specific allele related serum bone sialoprotein levels in Han Chinese.

    PubMed

    Zhang, Yunzhi; Liu, Haiyan; Zhang, Chen; Zhang, Tianxiao; Zhang, Bo; Li, Lu; Chen, Gang; Fu, Dongke; Wang, KunZheng

    2015-11-16

    Osteoporosis is a systemic skeletal disorder characterized by reduced bone mineral density (BMD) and disrupted bone architecture, predisposing the patient to increased fracture risk. Evidence from early genetic epidemiological studies has indicated a major role for genetics in the development of osteoporosis and the variation in BMD. In this study, we focused on two key genes in the endochondral ossification pathway, IBSP and PTHLH. Over 9,000 postmenopausal Han Chinese women were recruited, and 54 SNPs were genotyped. Two significant SNPs within IBSP, rs1054627 and rs17013181, were associated with BMD and postmenopausal osteoporosis by the two-stage strategy, and rs17013181 was also significantly associated with serum IBSP levels. Moreover, one haplotype (rs12425376-rs10843047-rs42294) covering the 5' end of PTHLH was associated with postmenopausal osteoporosis. Our results provide evidence for the association of these two key endochondral ossification pathway genes with BMD and osteoporosis in postmenopausal Han Chinese women. Combined with previous findings, we provide evidence that a particular SNP in IBSP has an allele-specific effect on mRNA levels, which would, in turn, reflect serum IBSP levels.

  2. Non-SMC condensin I complex, subunit D2 gene polymorphisms are associated with Parkinson's disease: a Han Chinese study.

    PubMed

    Zhang, Ping; Liu, Ling; Huang, Jinsha; Shao, Liang; Wang, Hongcai; Xiong, Nian; Wang, Tao

    2014-05-01

    Previous studies have indicated that non-SMC condensin I complex, subunit D2 (NCAPD2), an important protein in chromosome condensation, gene polymorphisms are associated with Alzheimer's disease. But no study has shown the relationship between NCAPD2 polymorphisms and Parkinson's disease. Here, we conducted a case-control study to investigate the relationship between NCAPD2 polymorphisms and the risk of Parkinson's disease in a Han Chinese population. Two single nuclear polymorphisms (SNPs) of NCAPD2 (rs7311174 and rs2072374) showed significant p values (p = 0.046 and p = 0.043, respectively) in 265 patients and 267 controls. Further analysis showed an effect of age and gender on the relationship between the two SNPs and the risk for Parkinson's disease. The A allele of rs7311174 and the T allele of rs2072374 were protective in the male patients (p = 0.016 and p = 0.019, respectively). The frequencies of the T allele of rs7311174 and the C allele of rs2072374 were significantly associated with late-onset Parkinson's disease (p = 0.048 and p = 0.044, respectively). This research demonstrates a positive relationship between the NCAPD2 gene and the risk for Parkinson's disease in a Han Chinese population and provides a potential genetic marker for sporadic Parkinson's disease.

  3. [Frequency and linkage disequilibrium of specific HLA-DR and HLA-DQ genes in Chinese Han population].

    PubMed

    Yang, Su-Xia; Hu, Zhi-Fei; Zu, Qiang; Lu, Jin-Shan; Zhang, Xu; Dong, Jun

    2012-12-01

    This study was aimed to investigate the distribution feature of HLA-DR/DQ gene linkage disequilibrium in Chinese Han population and to improve the accuracy of HLA matching results. Genotyping of HLA-DR and HLA-DQ gene locus was performed using PCR-SSP typing in Chinese Han population receiving kidney transplantation. The results showed that there were 29 new linkage combinations in 1799 patients, in which DR13-DQ5, DR11-DQ8 and DR8-DQ8 were discovered for 11, 8 and 7 times respectively while DR9-DQ8, DR12-DQ6 and DR14-DQ4 were both discovered for 6 times. The linkage disequilibrium parameters of these haplotypes were negative, showing that these linkages were uncommon. It is concluded that this study not only enriches the classical HLA-DR/DQ linkage combinations, but also indicates the national relevance of combination distribution, and it has great importance in improving the accuracy of HLA matching experiments and reducing unnecessary repeated work.

  4. 5-HTTLPR Polymorphism Impacts Task-Evoked and Resting-State Activities of the Amygdala in Han Chinese

    PubMed Central

    Li, Sufang; Zou, Qihong; Li, Jun; Li, Jin; Wang, Deyi; Yan, Chaogan; Dong, Qi; Zang, Yu-Feng

    2012-01-01

    Background Prior research has shown that the amygdala of carriers of the short allele (s) of the serotonin transporter (5-HTT) gene (5-HTTLPR) have a larger response to negative emotional stimuli and higher spontaneous activity during the resting state than non-carriers. However, recent studies have suggested that the effects of 5-HTTLPR may be specific to different ethnic groups. Few studies have been conducted to address this issue. Methodology/Principal Findings Blood oxygenation level dependent (BOLD) functional magnetic resonance imaging (fMRI) was conducted on thirty-eight healthy Han Chinese subjects (l/l group, n = 19; s/s group, n = 19) during the resting state and during an emotional processing task. Compared with the s/s group, the l/l group showed significantly increased regional homogeneity or local synchronization in the right amygdala during the resting state (|t|>2.028, p<0.05, corrected), but no significant difference was found in the bilateral amygdala in response to negative stimuli in the emotional processing task. Conclusions/Significance 5-HTTLPR can alter the spontaneous activity of the amygdala in Han Chinese. However, the effect of 5-HTTLPR on the amygdala both in task state and resting state in Asian population was no similar with Caucasians. They suggest that the effect of 5-HTTLPR on the amygdala may be modulated by ethnic differences. PMID:22574175

  5. The norepinephrine transporter gene is associated with the retardation symptoms of major depressive disorder in the Han Chinese population.

    PubMed

    Li, Xinrong; Sun, Ning; Xu, Yong; Wang, Yanfang; Li, Suping; Du, Qiaorong; Peng, Juyi; Luo, Jinxiu; Zhang, Kerang

    2012-09-05

    The norepinephrine transporter plays an important role in the pathophysiology and pharmacological treatment of major depressive disorder. Consequently, the norepinephrine transporter gene is an attractive candidate in major depressive disorder research. In the present study, we evaluated the depression symptoms of subjects with major depressive disorder, who were all from the North of China and of Han Chinese origin, using the Hamilton Depression Scale. We examined the relationship between two single nucleotide polymorphisms in the norepinephrine transporter, rs2242446 and rs5569, and the retardation symptoms of major depressive disorder using quantitative trait testing with the UNPHASED program. rs5569 was associated with depressed mood, and the GG genotype may be a risk factor for this; rs2242446 was associated with work and interest, and the TT genotype may be a risk factor for loss of interest. Our findings suggest that rs2242446 and rs5569 in the norepinephrine transporter gene are associated with the retardation symptoms of depression in the Han Chinese population.

  6. Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population.

    PubMed

    Zou, S; Song, P; Meng, H; Chen, T; Chen, J; Wen, Z; Li, Z; Li, Z; Shi, Y; Hu, H

    2017-03-01

    The exact aetiology and pathogenesis of most non-obstructive azoospermia (NOA) are still unknown. The previous two genomewide association studies (GWASs) have identified three different loci within the HLA region for NOA in the Han Chinese population, including rs3129878, rs498422 and rs7194. To further validate the risk of three GWAS-linked loci for NOA, we conducted a case-control study of these three risk loci in an independent Han Chinese male population, with 603 NOA patients and 610 controls. Furthermore, we also performed a meta-analysis of five studies on these three NOA-risk loci. The case-control study strongly suggested a significant association between loci rs3129878, rs498422 and rs7194 and NOA (P = 6.75 × 10(-21) (OR = 2.2586), P = 0.0060 (OR = 1.4013) and P = 0.0128 (OR = 1.2626) respectively). Our meta-analyses also supported the susceptibility of these three risk loci to NOA (P < 0.01). The risk variants within the HLA region potentially have a strong effect on males at risk of NOA, and may serve as diagnostic markers for male infertility. However, considering genetic difference between different populations, future validating studies in larger independent samples and animal experiments are suggested.

  7. Sex-specific association of the peptidase D gene rs731839 polymorphism and serum lipid levels in the Mulao and Han populations

    PubMed Central

    Lin, Quan-Zhen; Yin, Rui-Xing; Wu, Jian; Guo, Tao; Wang, Wei; Sun, Jia-Qi; Shi, Guang-Yuan; Shen, Shao-Wen; Wu, Jin-Zhen; Pan, Shang-Ling

    2014-01-01

    Little is known about the association of peptidase D (PEPD) gene rs731839 single nucleotide polymorphism (SNP) and serum lipid profiles in the Chinese population. The objective of the present study was to detect the association of the PEPD rs731839 SNP and serum lipid levels in the Mulao and Han populations. Genotyping of the PEPD rs731839 SNP was performed in 751 subjects of Mulao and 762 subjects of Han using polymerase chain reaction and restriction fragment length polymorphism and then confirmed by direct sequencing. The A allele carriers had higher serum high-density lipoprotein cholesterol (HDL-C), apolipoprotein (Apo) AI levels and lower triglyceride (TG) levels in Mulao; and higher HDL-C, low-density lipoprotein cholesterol (LDL-C) and ApoAI levels in Han than the A allele non-carriers. Subgroup analyses showed that the A allele carriers had higher HDL-C, ApoAI levels and lower TG levels in Mulao males but not in females; higher total cholesterol (TC), HDL-C, LDL-C and ApoAI levels in Han males; and higher TG, HDL-C and ApoAI levels in Han females than the A allele non-carriers. Serum lipid parameters were also correlated with several environmental factors in Mulao and Han populations, or in males and females in both ethnic groups. The association of the PEPD rs731839 SNP and serum lipid levels was different between the Mulao and Han populations, and between males and females in the both ethnic groups. There may be an ethnic- and/or sex-specific association of the PEPD rs731839 SNP and serum lipid levels in our study populations. PMID:25120796

  8. The genetic contribution of CIDEA polymorphisms, haplotypes and loci interaction to obesity in a Han Chinese population.

    PubMed

    Wu, Jingjing; Zhang, Ling; Zhang, Jie; Dai, Ying; Bian, Lili; Song, Manshu; Russell, Alyce; Wang, Wei

    2013-10-01

    To investigate the association of tag-SNPs and haplotype structures of the CIDEA gene with obesity in a Han Chinese population. Five single nucleotide polymorphisms (SNPs) (rs1154588/V115F, rs4796955/SNP1, rs8092502/SNP2, rs12962340/SNP3 and rs7230480/SNP4) in the CIDEA gene were genotyped in a case-control study. Genotyping was performed using the sequenom matrix-assisted laser desorption/ionization time-of-flight mass spectrometry iPLEX platform. There were significant differences between the obese and control groups in genotype distributions of V115F (P < 0.001), SNP1 (P = 0.006) and SNP2 (P = 0.005). Carriers of V115F-TT, SNP1-GG and SNP2-CC genotypes had a 2.84-fold (95 % CI 1.73-4.66), 2.19-fold (95 % CI 1.09-4.38) and 4.37-fold (95 % CI 1.21-15.08) increased risk for obesity, respectively. Haplotype analysis showed that GTTC (SNP1/SNP2/V115F/SNP4) had 1.41-fold (95 % CI 1.02-1.95) increased risk for obesity; whereas, haplotype TTGC had 0.48-fold (95 % CI 0.24-0.96) decreased risk for obesity. Using the multifactor dimensionality reduction method, the best model including SNP1, SNP2, V115F and SNP4 polymorphisms was identified with a maximum testing accuracy to 59.32 % and a perfect cross-validation consistency of 10/10 (P = 0.011). Logistic analysis indicated that there was a significant interaction between SNP1 and V115F associated with obesity. Subjects having both genotypes of SNP1/GG and V115F/TT were more susceptible to obesity in the Han Chinese population (OR 2.66, 95 %: 1.22-5.80). Genotypes of V115F/TT, SNP1/GG and SNP2/CC and haplotype GTTC of CIDEA gene were identified as risk factors for obesity in the Han Chinese population. The interaction between SNP1 and V115F could play a joint role in the development of obesity.

  9. Genetic Polymorphisms in CYP2E1: Association with Schizophrenia Susceptibility and Risperidone Response in the Chinese Han Population

    PubMed Central

    Wei, Zhiyun; Shen, Lu; Xiong, Yuyu; Wu, Xi; Niu, Jiamin; Han, Xia; Tian, Zhengan; Yang, Lun; Feng, Guoyin; He, Lin; Qin, Shengying

    2012-01-01

    Background CYP2E1 is a member of the cytochrome P450 superfamily, which is involved in the metabolism and activation of both endobiotics and xenobiotics. The genetic polymorphisms of CYP2E1 gene (Chromosome 10q26.3, Accession Number NC_000010.10) are reported to be related to the development of several mental diseases and to be involved in the clinical efficacy of some psychiatric medications. We investigated the possible association of CYP2E1 polymorphisms with susceptibility to schizophrenia in the Chinese Han Population as well as the relationship with response to risperidone in schizophrenia patients. Methods In a case-control study, we identified 11 polymorphisms in the 5' flanking region of CYP2E1 in 228 schizophrenia patients and 384 healthy controls of Chinese Han origin. From among the cases, we chose 130 patients who had undergone 8 weeks of risperidone monotherapy to examine the relationship between their response to risperidone and CYP2E1 polymorphisms. Clinical efficacy was assessed using the Brief Psychiatric Rating Scale (BPRS). Results Statistically significant differences in allele or genotype frequencies were found between cases and controls at rs8192766 (genotype p = 0.0048, permutation p = 0.0483) and rs2070673 (allele: p = 0.0018, permutation p = 0.0199, OR = 1.4528 95%CI = 1.1487–1.8374; genotype: p = 0.0020, permutation p = 0.0225). In addition, a GTCAC haplotype containing 5 SNPs (rs3813867, rs2031920, rs2031921, rs3813870 and rs2031922) was observed to be significantly associated with schizophrenia (p = 7.47E-12, permutation p<0.0001). However, no association was found between CYP2E1 polymorphisms/haplotypes and risperidone response. Conclusions Our results suggest that CYP2E1 may be a potential risk gene for schizophrenia in the Chinese Han population. However, polymorphisms of the CYP2E1 gene may not contribute significantly to individual differences in the therapeutic efficacy of risperidone. Further

  10. Association study of a common variant near IRS1 with type 2 diabetes mellitus in Chinese Han population.

    PubMed

    Tang, Yong; Han, Xueyao; Sun, Xiuqin; Lv, Chao; Zhang, Xiaomei; Guo, Wulan; Ren, Qian; Luo, Yingying; Zhang, Xiuying; Zhou, Xianghai; Ji, Linong

    2013-02-01

    The insulin receptor substrate-1 (IRS1) plays an important role in insulin signaling. A recent genome-wide association study identified rs2943641C>T as a susceptibility locus for type 2 diabetes mellitus (T2DM) in Caucasian patients. Therefore, we determined whether this common variant near IRS1 is also associated with the risk of T2DM and T2DM-related phenotypes in a Chinese Han population. A total of 2,290 unrelated Chinese Han individuals residing in Beijing were recruited in this study, including 1177 T2DM patients and 1113 subjects with normal glucose tolerance (control group). The single nucleotide polymorphism (SNP) was genotyped using a MassARRAY iPLEX system. The frequency of risk allele C was 0.929 in the control group and 0.939 in patients with T2DM. We found no association between the C allele of rs2943641 and T2DM in a recessive model [OR 1.14, 95 % confidence interval (CI) 0.89-1.45, P = 0.298], or after adjusting for sex, age, and body mass index (BMI) (OR 1.10, 95 % CI 0.85-1.43, P = 0.301). Analysis of the clinical features of the control subjects with normal glucose tolerance revealed that the 30-min plasma glucose level during a 75-g oral glucose tolerance test was significantly different between the CC and CT+TT genotypes (P = 0.017). Linear regression analysis showed that the 30-min plasma glucose levels was significantly and positively associated with the CC genotype after adjusting for sex, age, and BMI (β = 0.065, 95 % CI 0.009-0.654, P = 0.044). In addition, a potential association between this SNP and increased waist circumference (β = 1.337, 95 % CI -0.179 to 2.853, P = 0.084) was observed with adjustment for the sex and age. Our study was not able to demonstrate the association between rs2943641 near IRS1 and T2DM in a Chinese Han population. However, this SNP may be associated with postprandial hyperglycemia.

  11. The FOXO1 Gene-Obesity Interaction Increases the Risk of Type 2 Diabetes Mellitus in a Chinese Han Population

    PubMed Central

    2017-01-01

    Here, we aimed to study the effect of the forkhead box O1-insulin receptor substrate 2 (FOXO1-IRS2) gene interaction and the FOXO1 and IRS2 genes-environment interaction for the risk of type 2 diabetes mellitus (T2DM) in a Chinese Han population. We genotyped 7 polymorphism sites of FOXO1 gene and IRS2 gene in 780 unrelated Chinese Han people (474 cases of T2DM, 306 cases of healthy control). The risk of T2DM in individuals with AA genotype for rs7986407 and CC genotype for rs4581585 in FOXO1 gene was 2.092 and 2.57 times higher than that with GG genotype (odds ratio [OR] = 2.092; 95% confidence interval [CI] = 1.178–3.731; P = 0.011) and TT genotype (OR = 2.571; 95% CI = 1.404–4.695; P = 0.002), respectively. The risk of T2DM in individuals with GG genotype for Gly1057Asp in IRS2 gene was 1.42 times higher than that with AA genotype (OR = 1.422; 95% CI = 1.037–1.949; P = 0.029). The other 4 single nucleotide polymorphisms (SNPs) had no significant association with T2DM (P > 0.05). Multifactor dimensionality reduction (MDR) analysis showed that the interaction between SNPs rs7986407 and rs4325426 in FOXO1 gene and waist was the best model confirmed by interaction analysis, closely associating with T2DM. There was an increased risk for T2DM in the case of non-obesity with genotype combined AA/CC, AA/AC or AG/AA for rs7986407 and rs4325426, and obesity with genotype AA for rs7986407 or AA for rs4325426 (OR = 3.976; 95% CI = 1.156–13.675; P value from sign test [Psign] = 0.025; P value from permutation test [Pperm] = 0.000–0.001). Together, this study indicates an association of FOXO1 and IRS2 gene polymorphisms with T2DM in Chinese Han population, supporting FOXO1-obesity interaction as a key factor for the risk of T2DM. PMID:28049237

  12. The FOXO1 Gene-Obesity Interaction Increases the Risk of Type 2 Diabetes Mellitus in a Chinese Han Population.

    PubMed

    Gong, Lilin; Li, Rong; Ren, Wei; Wang, Zengchan; Wang, Zhihong; Yang, Maosheng; Zhang, Suhua

    2017-02-01

    Here, we aimed to study the effect of the forkhead box O1-insulin receptor substrate 2 (FOXO1-IRS2) gene interaction and the FOXO1 and IRS2 genes-environment interaction for the risk of type 2 diabetes mellitus (T2DM) in a Chinese Han population. We genotyped 7 polymorphism sites of FOXO1 gene and IRS2 gene in 780 unrelated Chinese Han people (474 cases of T2DM, 306 cases of healthy control). The risk of T2DM in individuals with AA genotype for rs7986407 and CC genotype for rs4581585 in FOXO1 gene was 2.092 and 2.57 times higher than that with GG genotype (odds ratio [OR] = 2.092; 95% confidence interval [CI] = 1.178-3.731; P = 0.011) and TT genotype (OR = 2.571; 95% CI = 1.404-4.695; P = 0.002), respectively. The risk of T2DM in individuals with GG genotype for Gly1057Asp in IRS2 gene was 1.42 times higher than that with AA genotype (OR = 1.422; 95% CI = 1.037-1.949; P = 0.029). The other 4 single nucleotide polymorphisms (SNPs) had no significant association with T2DM (P > 0.05). Multifactor dimensionality reduction (MDR) analysis showed that the interaction between SNPs rs7986407 and rs4325426 in FOXO1 gene and waist was the best model confirmed by interaction analysis, closely associating with T2DM. There was an increased risk for T2DM in the case of non-obesity with genotype combined AA/CC, AA/AC or AG/AA for rs7986407 and rs4325426, and obesity with genotype AA for rs7986407 or AA for rs4325426 (OR = 3.976; 95% CI = 1.156-13.675; P value from sign test [P(sign)] = 0.025; P value from permutation test [P(perm)] = 0.000-0.001). Together, this study indicates an association of FOXO1 and IRS2 gene polymorphisms with T2DM in Chinese Han population, supporting FOXO1-obesity interaction as a key factor for the risk of T2DM.

  13. Association between HLA-A and -B polymorphisms and susceptibility to Henoch-Schönlein purpura in Han and Mongolian children from Inner Mongolia.

    PubMed

    Ren, S M; Yang, G L; Liu, C Z; Zhang, C X; Shou, Q H; Yu, S F; Li, W C; Su, X L

    2012-02-03

    We examined a possible association between HLA-A and -B polymorphisms and susceptibility to Henoch-Schönlein purpura (HSP) in Han and Mongolian children in Inner Mongolia, through a case-control study. Two hundred and sixty-eight unrelated children were enrolled, including 56 Mongolian and 50 Han children with HSP, 66 healthy Mongolian and 96 healthy Han children as a control group. HLA-A and -B alleles were indentified by PCR-sequence-specific oligonucleotide analysis and were further analyzed by PCR-sequencing-based typing (SBT). Frequencies of HLA-A*11, HLA-B*15 in Mongolian patients and HLA-A*26, HLA-B*35, HLA-B*52 in Han patients were higher than those in the corresponding control group (P < 0.05), while frequencies of HLA-B*07 and -B*40 in Mongolian HSP patients were lower than those in the control group (P < 0.05). Further analysis using PCR-SBT showed that all HLA-A*11 were HLA-A*1101, and most HLA-B*15 were HLA-B*1501 in Mongolian HSP patients. All HLA-A*26 were HLA-A*2601 and HLA-B*35 were mostly HLA-B*3503 in Han patients. There were more Han patients with severe manifestations than Mongolian patients (P < 0.05). Frequencies of HLA-A*26, HLA-B*35 and HLA-B*52 in Han patients were higher than in Mongolian patients (P < 0.05). We conclude that HLA-A*11(*1101) and -B*15(*1501) are associated with susceptibility to HSP in Mongolian children and HLA-A*26(*2601), HLA-B*35(*3503) and HLA-B*52 are associated with susceptibility to HSP in Han children. HLA-B*07 and -B*40 may be protective genes in Mongolian children. The different frequencies of HLA-A and -B in Mongolian and Han children may be responsible for the different manifestations in these two ethnic groups.

  14. Influence of the South-to-North Water Transfer and the Yangtze River mitigation projects on the water quality of Han River in China

    NASA Astrophysics Data System (ADS)

    Kuo, Yi-Ming; liu, Wenwen

    2016-04-01

    Algal bloom was occurred every year in the down stream of the Han River in recent five years. The operation of the Middle Route of China's South-to-North Water Transfer (MSNW) Project may affect the hydrological condition and self-purification of water body in the down and middle streams of the Han River, trigger algal bloom, and elevate the difficulty in the treatment of water pollutants, which is a crucial issue involved in ecology, environment, and economy. In this study, the monthly water samples were collected from the middle and down streams of Han River from July 2014 to December 2015. Factor Analysis and Cluster Analysis were applied to identify major pollution types and areas and determine the reasons influencing the variations of water quality in the down and middle streams of the Han River. The results show that whole monitoring period can be divided into three periods as different pollution levels. The factor analysis distinguishes three pollution types (inorganic pollution, organic pollution, and agricultural pollution) and thier contributions on Han River water quality in dry and wet seasons. Industrial areas are influenced by inorganic pollution and cultivated lands are influenced by agricultural pollution. The water quality in wet season is significantly affected by flow rate, which was sometimes controlled by two projects. The heavy polluted water may be diluted by high flow volume.

  15. The “Father of Stress” Meets “Big Tobacco”: Hans Selye and the Tobacco Industry

    PubMed Central

    Lee, Kelley

    2011-01-01

    The concept of stress remains prominent in public health and owes much to the work of Hans Selye (1907–1982), the “father of stress.” One of his main allies in this work has never been discussed as such: the tobacco industry. After an analysis of tobacco industry documents, we found that Selye received extensive tobacco industry funding and that his research on stress and health was used in litigation to defend the industry's interests and argue against a causal role for smoking in coronary heart disease and cancer. These findings have implications for assessing the scientific integrity of certain areas of stress research and for understanding corporate influences on public health research, including research on the social determinants of health. PMID:20466961

  16. New revelations about Hans Berger, father of the electroencephalogram (EEG), and his ties to the Third Reich.

    PubMed

    Zeidman, Lawrence A; Stone, James; Kondziella, Daniel

    2014-07-01

    Hans Berger was a German neuropsychiatrist and head of the neurology department at the University of Jena, who discovered the human electroencephalogram (EEG). Many sources state that Berger was forced into retirement and suicide by the Nazis because he was at odds with the regime. In fact, Berger helped select his Nazi successor Berthold Kihn (complicit in "euthanasia" murders), financially supported the Nazi Schutzstaffel (SS), and was a willing participant on Nazi genetic health higher courts that reviewed appeals for forced sterilizations of neuropsychiatric patients. His motivations could be related to avoiding Nazi harassment, indoctrination by Nazi ideology, or less likely, career opportunism. His actions stand in contrast to colleagues who partially resisted the Nazis, and hopefully will serve as an example to future generations of neurologists regarding the danger of allowing one's professional standing to be used as a tool to support the policies of tyranny and oppression.

  17. [Responsibility: Towards a fifth principle in blood transfusion's ethics. Applicability and limits of Hans Jonas's responsibility principle].

    PubMed

    Nélaton, C

    2016-09-01

    Nowadays, in France, anonymity, gratuity, volunteering, non-profit are recognized as ethical principles in blood transfusion. Can we add responsibility to this list? Can a logo named "Responsiblood" efficiently encourage blood donation? This article explores Hans Jonas's reform of the responsibility concept in order to measure its applicabilities and limits in the field of blood transfusion. Indeed, this concept - rethought by Jonas - seems to be a good encouragement which avoids the pitfalls of the concept of duty and of the idea of payment for blood donation. But can't we also see in this reform a threat to blood transfusion because of technophobia and the heuristics of fear that it involves?

  18. [Textual research on Han-Chinese formulae collected in Tubo medical manuscript unearthed in 'Bum-pa-Che Tower].

    PubMed

    Liu, Y H; Nong, H C

    2016-11-28

    A Tibetan manuscript with title of Sman-dpyad gces-pa grub-pa kun-'dus-pa in the Collection of Practiced Medical Quintessence, was found in the basement of a Buddhist tower named 'Bum-pa-che in Lhokha (Shannan), Tibet. It contains a purgative recipe of TCM with its title "Powder of Han Region" and several ingredients in Chinese transliteration. Based upon the rule of medieval Chinese system of pronunciation with reference of related texts and studies, a textual research identifies it as a kind of Maren (seed of Cannabis sativa L. ) wan in TCM. Although no identical formulae of its kind has been found in extant literature of TCM prior to the Song Dynasty(960 AD), yet its ingredients, pharmaceutical preparation and efficacy are very similar to the Modified maren wan, the variant formulae of Maren wan in Wai tai mi yao (Arcane Essentials from the Imperial Library) of the Tang Dynasty.

  19. Possible interaction between MAOA and DRD2 genes associated with antisocial alcoholism among Han Chinese men in Taiwan.

    PubMed

    Wang, Tso-Jen; Huang, San-Yuan; Lin, Wei-Wen; Lo, Hsin-Yi; Wu, Pei-Lin; Wang, Yu-Shan; Wu, Yi-Syuan; Ko, Huei-Chen; Shih, Jean-Chen; Lu, Ru-Band

    2007-01-30

    Both monoamine oxidase A (MAOA) and dopamine D(2) receptor (DRD2) genes have been considered as candidate genes for antisocial personality disorder with alcoholism (Antisocial ALC) [Parsian, A., 1999. Sequence analysis of exon 8 of MAO-A gene in alcoholics with antisocial personality and normal controls. Genomics. 45, 290-295.; Samochowiec, J., Lesch, K.P., Rottmann, M., Smolka, M., Syagailo, Y.V., Okladnova, O., Rommelspacher, H., Winterer, G., Schmidt, L.G., Sander, T., 1999. Association of a regulatory polymorphism in the promoter region of the monoamine oxidase A gene with antisocial alcoholism. Psychiatry. Res. 86, 67-72.; Schmidt, L.vG., Sander, T., Kuhn, S., Smolka, M., Rommelspacher, H., Samochowiec, J., Lesch, K.P., 2000. Different allele distribution of a regulatory MAO-A gene promotor polymorphism in antisocial and anxious-depressive alcoholics. J. Neural .Transm. 107, 681-689.]. However, the association between alcoholism and MAOA or DRD2 gene has not been universally accepted [Lee, J.F., Lu, R.B., Ko, H.C., Chang, F.M., Yin, S.J., Pakstis, A.J., Kidd, K.K., 1999. No association between DRD(2) locus and alcoholism after controlling the ADH and ALDH genotypes in Chinese Han population. Alcohol. Clin. Exp. Res. 23, 592-599.; Lu, R.B., Lin, W.W., Lee, J.F., Ko, H.C., Shih, J.C., 2003. Neither antisocial personality disorder nor antisocial alcoholism association with MAOA gene among Han Chinese males in Taiwan. Alcohol. Clin. Exp. Res. 27, 889-893.]. Since dopamine is metabolized to 3,4-dihydroxyphenyl-acetaldehyde (DOPAL) via monoamine oxidase (MAO) [Westerink, B.H., de Vries, J.B., 1985. On the origin of dopamine and its metabolite in predominantly noradrenergic innervated brain areas. Brain. Res. 330, 164-166.], the interaction between MAOA and DRD2 genes might be related to Antisocial ALC. The present study aimed to determine whether Antisocial ALC might be associated with the possible interactions of DRD2 gene with MAOA gene. Of the 231 Han Chinese

  20. Genetic data of nine non-CODIS STRs in Chinese Han population from Guangdong Province, Southern China.

    PubMed

    Lu, De-Jian; Liu, Qiu-Ling; Zhao, Hu

    2011-01-01

    Nine non-combined DNA index system tetranucleotide short tandem repeat (STR) loci D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05 were amplified in a multiplex polymerase chain reaction system. The distribution of alleles of the nine STRs was reported from a Chinese Han population in Guangdong Province, Southern China. The combined power of exclusion in trios and duos for the nine loci was 0.999981 and 0.999025, respectively. Mutation rates range from 0 to 0.005618. Pairwise analysis of linkage disequilibrium, which included PowerPlex 16 System loci, did show statistically significant deviation from independence even though loci locate on the same chromosomes. The nine STRs are highly informative and suitable to extend the results obtained with other STRs commonly analyzed for difficult paternity and kinship analysis.

  1. Genetic polymorphism of the Nrf2 promoter region is associated with vitiligo risk in Han Chinese populations.

    PubMed

    Song, Pu; Li, Kai; Liu, Ling; Wang, Xiaowen; Jian, Zhe; Zhang, Weigang; Wang, Gang; Li, Chunying; Gao, Tianwen

    2016-10-01

    The nuclear factor erythroid-derived two-like 2-antioxidant response element (Nrf2-ARE) pathway and its downstream antioxidant enzyme heme oxygenase-1 (HMOX1 or HO-1) play essential roles in H2 O2 -induced oxidative damage in human melanocytes. However, the link between Nrf2 promoter polymorphisms and susceptibility to oxidative stress-related diseases such as vitiligo is unknown. This study evaluated the association of the Nrf2 and HO-1 genes polymorphisms with vitiligo susceptibility. In this case-control study of 1136 Han Chinese vitiligo patients and 1200 controls, Nrf2 (rs35652124 and rs6721961) and HO-1 (rs2071746) genes were genotyped by PCR-restriction fragment length polymorphism analysis. Overall, a significantly decreased risk of vitiligo was found to be associated with Nrf2 rs35652124 CC and combined (CT+CC) genotypes [odds ratio (OR) 0.64, 95% confidence interval (CI) 0.50-0.83 and OR, 0.84, 95% CI 0.71-0.99, respectively], as well as among subgroups: female, onset age ≤20 and never smoker. We subsequently found that Nrf2 rs35652124 C allele had higher transcriptional activity in the luciferase reporter assay compared with Nrf2 rs35652124 T allele. Furthermore, we investigated serum HO-1 activity was associated with the rs35652124 CT+CC genotype and lower in patients than in controls (P = 0.024). Logistic regression analysis showed a dose-response relationship between lower vitiligo risk and increased HO-1 activity in rs35652124 CT+CC genotype carriers (Ptrend < 0.05). These findings indicate that the C allele of rs35652124 located in the promoter region of Nrf2 gene is associated with protective effect on vitiligo in a Han Chinese population.

  2. Association of TNFSF4 Polymorphisms with Vogt-Koyanagi-Harada and Behcet’s Disease in Han Chinese

    PubMed Central

    Lu, Sha; Song, Shengfang; Hou, Shengping; Li, Hua; Yang, Peizeng

    2016-01-01

    To investigate whether single nucleotide polymorphisms (SNPs) of the Tumor Necrosis Factor Superfamily 4 (TNFSF4) gene are associated with Vogt–Koyanagi–Harada (VKH) and Behcet’s disease (BD) in a Chinese Han population. A two-stage case control study was carried out in 1331 VKH, 938 BD and 1752 healthy controls. Ten TNFSF4 SNPs, including rs1234314, rs1234315, rs2205960, rs704840, rs2795288, rs844654, rs12039904, rs10912580, rs844665, and rs844644, were genotyped using the PCR-restriction fragment length polymorphism method. Genotype and allele frequencies were analyzed between cases and healthy controls using the X2 or Fisher’s exact test and p values were corrected for multiple comparisons. We observed a significantly increased frequency of the TT genotype of rs1234315 in BD patients (Pc = 1.44 × 10−5, OR = 1.734, 95% CI = 1.398–2.151). The frequency of the TT genotype of rs12039904 was significantly higher in patients with VKH disease as compared to controls (Pc = 4.62 × 10−5, OR = 1.959, 95% CI = 1.483–2.588). Analysis of clinical manifestations in VKH disease and BD did not show an association with the TNFSF4 gene polymorphisms. The study suggests that the TNFSF4 gene may be involved in the susceptibility to VKH disease and BD in Han Chinese. PMID:27872495

  3. Association study of NRXN3 polymorphisms with schizophrenia and risperidone-induced bodyweight gain in Chinese Han population.

    PubMed

    Hu, Xiaofeng; Zhang, Jishui; Jin, Chao; Mi, Weifeng; Wang, Fang; Ma, Wenbin; Ma, Cuicui; Yang, Yongfeng; Li, Wenqiang; Zhang, Hongxing; Du, Bo; Li, Keqing; Liu, Chenxing; Wang, Lifang; Lu, Tianlan; Zhang, Hongyan; Lv, Luxian; Zhang, Dai; Yue, Weihua

    2013-06-03

    Recent researches have implicated that mutations in the neurexin-3 (NRXN3) gene on chromosome 14q24.3-q31.1 might play a role in addiction, autism, and obesity. In order to explore the association of NRXN3 polymorphisms with schizophrenia, we examined seven single nucleotide polymorphisms (SNPs) in NRXN3 spanning 1.33 Mb of this gene, in a Chinese Han sample of 1214 schizophrenic patients and 1517 healthy control subjects. Our results showed that three SNPs were associated with schizophrenia (rs7157669: A>C, p=0.006; rs724373: C>T, p=0.014; rs7154021: C>T, p=0.018). After being corrected for multiple tests, the association of rs7157669 remained significant but those for two others were modest. According to the linkage disequilibrium pattern, the 7 SNPs may construct 3 haplotype blocks. Several haplotypes were significantly associated with schizophrenia, constructed by rs11624704-rs7157669-rs724373 (AAC, p=0.003; ACT, p=0.007, both remained significant after permutation tests), rs7154021-rs7142344 (TT, p=0.024; CT, p=0.012), respectively. Among the patients, 326 ones at first onset have received 6-week monotherapy of risperidone. Further analyses showed that two SNPs were associated with percentage of bodyweight gain following a 6-week therapy of risperidone (rs11624704: p=0.03; rs7154021: p=0.008) and rs7154021 remained significant after permutation test. Our findings suggested that NRXN3 might represent a major susceptibility gene for schizophrenia and have a role in bodyweight gain related to therapy of risperidone in Chinese Han population.

  4. Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong Province, Southern China.

    PubMed

    Wang, Ying; Zhang, Yong-Ji; Zhang, Chu-chu; Li, Ran; Yang, Yang; Ou, Xue-Ling; Tong, Da-yue; Sun, Hong-Yu

    2016-03-01

    In this study, we collected blood samples from 1033 father-son pairs of a Han population from Guangdong Province, Southern China, of which 1007 fathers were unrelated male individuals. All together, 2040 male individuals were analyzed at 27 Y-chromosomal short tandem repeats (Y-STRs) with Yfiler(®) Plus system. A total of 1003 different haplotypes were observed among 1007 unrelated fathers, with the overall haplotype diversity (HD) 0.999992 and discrimination capacity (DC) 0.996. The gene diversity (GD) values for the 27 Y-STR loci ranged from 0.4400 at DYS438 to 0.9597 at DYS385a/b. 11 off-ladder alleles and 25 copy number variants were detected in 1007 males. Population relationships were analyzed by comparison with 19 other worldwide populations. With 27,920 allele transfers in 1033 father-son pairs, 124 mutation events occurred, of which 118 were one-step mutations and 6 were two-step mutations. Eleven father-son pairs were found to have mutations at two loci, while one pair at three loci. The estimated locus-specific mutation rates varied from 0 to 1.74×10(-2), with an average estimated mutation rate 4.4×10(-3) (95%CI: 3.7×10(-3) to 5.3×10(-3)). Mutations were most frequently observed at three rapidly mutating Y-STRs (RM Y-STRs), DYS576, DYS518 and DYS627. However, at DYS570, DYS449 and DYF387S1 loci, which were also described as RM Y-STRs, the mutation rates in Guangdong Han population were not as high as estimated in other populations.

  5. Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population.

    PubMed

    Li, Wenjin; Ji, Weidong; Li, Zhiqiang; He, Kuanjun; Wang, Qingzhong; Chen, Jianhua; Qiang, Yu; Feng, Guoyin; Li, Xingwang; Shen, Jiawei; Wen, Zujia; Ji, Jue; Shi, Yongyong

    2015-03-01

    Schizophrenia (SCZ) and major depressive disorder (MDD) are two of the most common and severe mental disorders, the etiologies of which are not yet clearly elucidated. The ACSM1 gene has been identified as a susceptibility gene for SCZ in two previous genome-wide association studies (GWAS). ACSM1 catalyzes the activation of fatty acids and plays an important role in the metabolic system. Some evidence has suggested that ACSM1 contributes to a genetic risk for MDD. The present study aimed to evaluate the common genetic risk of the ACSM1 gene in these two disorders in the Han Chinese population. In total, 1235 patients with SCZ, 1045 patients with MDD and 1235 control subjects of Chinese origin were recruited. Six single nuclear polymorphisms (SNPs) in ACSM1 were genotyped to test their associations with SCZ and MDD. SNP rs163234 was found to be significantly associated with both SCZ (permutated Pallele=1.700×10(-3), OR=1.350 [95% CI=1.152-1.581]) and MDD (permutated Pallele=4.800×10(-3), OR=1.329 [95% CI=1.127-1.567]). SNP rs433598 showed a strong association with SCZ (permutated Pallele=4.300×10(-3), OR=1.303 [95% CI=1.117-1.520]). Haplotype analysis of the blocks containing the two positive markers also revealed a significant association. This is the first study to assess the possible association of the ACSM1 gene with a genetic susceptibility for MDD. Our data are the first to suggest a positive association of the ACSM1 gene with a genetic susceptibility for SCZ and MDD in the Han Chinese population.

  6. Relationship between single nucleotide polymorphism of interleukin-18 and susceptibility to pulmonary tuberculosis in the Chinese Han population.

    PubMed

    Han, Min; Yue, Jun; Lian, Yuan-Yuan; Zhao, Yan-Lin; Wang, Hong-Xiu; Liu, Li-Rong

    2011-06-01

    Interleukin-18 (IL-18) is a multi-functional cytokine capable of inducing either Th1 or Th2 polarization depending on the immunologic milieu. IL-18 may influence the host response to Mycobacterium tuberculosis (M.tb) infection. To investigate the relationship between single nucleotide polymorphisms of the IL-18 and susceptibility to pulmonary tuberculosis in the Chinese Han population, the IL-18 gene was sequenced to detect polymorphisms and to examine the genotype frequencies in 300 patients and 702 healthy controls. DNA sequencing revealed three IL-18 variants: rs1946518, rs5744247, and rs549908. It also revealed that allele A of rs1946518 confers a 1.47-fold increased risk of developing tuberculosis (TB) (P = 0.0001, OR [95%CI] = 1.47 [1.21-1.78]), and that the C allele of rs5744247 confers a 0.77-fold decreased risk of disease (P = 0.01, R [95%CI] = 0.77 [0.632-0.937]). The genotypes rs1946518, rs5744247 and rs549908 were found to be significantly associated with TB. Estimation of the frequencies of haplotypes revealed a potential risk haplotype AGA (P = 0.01, OR [95%CI] = 1.41 [1.15-1.72]) and a protective haplotype CCA (P = 0.01, OR [95%CI] = 0.70 [0.57-0.85]) for TB. The present findings suggest that polymorphisms in the IL-18 gene may affect susceptibility to TB and increase the risk of developing the disease in the Chinese Han population.

  7. [Naming and classification of steroids and human stress ulcers. Articles of historic significance published by Hans Selye 70 years ago].

    PubMed

    Szabó, Sándor; Gyires, Klára

    2015-08-30

    The name of Hans Selye is mostly known worldwide as the discoverer of stress reaction. Yet, he made numerous other seminal and clinically relevant discoveries. Namely, since he had a focused research on steroid hormones originating from the adrenal cortex that play a crucial role in stress response, he was the first who introduced about 70 years ago the first classification of steroids that is still valid nowadays. This is based on three objective facts: (a) the names of steroid groups are identical with their organ of origin (e.g., corticoids from the adrenal cortex, testoids/androgens from the testis); (b) chemical structures of the steroids are identical within a group (e.g., all corticoids have pregnane nucleus with 21 carbon atoms); and (c) the biological effects are homogenous within a group (e.g., all glucocorticoids exert catabolic effect, while androgens are anabolic). It should be emphasized that Selye also discovered in animal models the pro-inflammmatory effect of mineralocorticoids and the anti-inflammatory properties of glucocorticoids, about 8-10 years before Nobel Prize was awarded to a physician for the first clinical use of adrenocorticotrop hormone and cortisone. Last, but not least, Selye was the first who recognized about 70 years ago the occurence of stress ulcers in humans, based on clinical reports on the huge increase in the number of perforated gastric anti-duodenal ulcers during bombings of London in World War II. The subsequent ulcer research by Selye`s former students and their contemporaries resulted in the recognition of anti-duodenal ulcer effect of dopamine, and the central gastroprotective actions of thyreotrop releasing hormone and endogenous opioids. Thus, Hans Selye made much more contributions to medical science and clinical practice than 'just' the discoverer of biologic stress response.

  8. Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population.

    PubMed

    Shi, Ou-Yan; Yang, Hui-Yun; Shen, Yong-Ming; Sun, Wei; Cai, Chun-You; Cai, Chun-Quan

    2014-11-01

    Neural tube defects (NTDs) are the most common and severe malformations of the central nervous system. The association of single nucleotide polymorphisms (SNPs) of the Frizzled 3 (FZD3) and Frizzled 6 (FZD6) genes and NTDs in the Han population of northern China was principally studied. One synonymous SNP (rs2241802) in FZD3 gene and three nonsynonymous SNPs (rs827528, rs3808553 and rs12549394) in FZD6 gene were analyzed by polymerase chain reaction (PCR) and sequencing methods in 135 NTD patients and 135 normal controls. The allele, genotype and haplotype frequencies were calculated and analyzed to examine the relationship between FZD3/FZD6 SNPs and NTDs. Both T allele and TT genotype frequencies of the FZD6 rs3808553 loci in the NTDs group were significantly higher than those in the controls, and children with T allele and TT genotype were associated with increased NTDs risk (OR = 1.575, 95 % CI 1.112-2.230, P = 0.010 and OR = 2.811, 95 % CI 1.325-5.967, P = 0.023, respectively). There were no differences among different genotypes or alleles in other three SNPs. Haplotypes A-G-C and A-T-C in FZD6 were found associated with NTDs in the case-control study (OR = 0.560, 95 % CI 0.378-0.830, P = 0.004 and OR = 1.670, 95 % CI 1.126-2.475, P = 0.011, respectively). The rs3808553 of FZD6 is obviously associated with NTDs in Han population of northern China. The TT genotype may increase risk for NTDs.

  9. Association of polymorphisms in the telomere-related gene ACYP2 with lung cancer risk in the Chinese Han population

    PubMed Central

    Guo, Wen; You, Jiangtao; Wu, Qifei; Zhang, Guangjian; Li, Haijun; Geng, Donghong; Jin, Tianbo; Fu, Junke; Zhang, Yong

    2016-01-01

    Single nucleotide polymorphisms (SNPs) in the telomere-associated gene ACYP2 are associated with increased lung cancer risk. We explored the correlation between ACYP2 SNPs and lung cancer susceptibility in the Chinese Han population. A total of 554 lung cancer patients and 603 healthy controls were included in this study. Thirteen SNPs in ACYP2 were selected. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using unconditional logistic regression analysis. Multivariate logistic regression analysis was used assess the correlation between SNPs and lung cancer. We found that rs1682111 was associated with increased lung cancer risk in the recessive model (crude, OR=1.50, 95%CI: 1.04-2.16, p=0.029; adjusted for age, OR=1.55, 95%CI: 1.04-2.30, p=0.029), as was rs11896604 in the codominant model (crude, OR=0.65, 95%CI: 0.33-1.28, p=0.045; adjusted for age, OR=0.74, 95%CI: 0.36-1.53, p=0.049) and over-dominant model (crude, OR=1.30, 95%CI: 1.02-1.66, p=0.032; adjusted for age, OR=1.37, 95%CI: 1.05-1.78, p=0.020). Finally, rs843720 was associated with increased lung cancer risk in the recessive model (crude, OR=1.43, 95%CI: 1.02-2.02, p=0.040; adjusted for age, OR=1.48, 95%CI: 1.02-2.15, p=0.040). Thus three SNPs in ACYP2 (rs1682111, rs11896604 and rs843720) associate with lung cancer in the Chinese Han population. PMID:27974682

  10. Significant association of GRM7 and GRM8 genes with schizophrenia and major depressive disorder in the Han Chinese population.

    PubMed

    Li, Wenjin; Ju, Kang; Li, Zhiqiang; He, Kuanjun; Chen, Jianhua; Wang, Qingzhong; Yang, Beimeng; An, Lin; Feng, Guoyin; Sun, Weiming; Zhou, Juan; Zhang, Shasha; Song, Pingping; Khan, Raja; Ji, Weidong; Shi, Yongyong

    2016-01-01

    Metabotropic glutamate receptor type 7 (GRM7) and type 8 (GRM8) are involved in the neurotransmission of glutamate which is supposed to play an important role in the development of schizophrenia (SCZ) and major depressive disorders (MDD). We designed this study to investigate whether common DNA variants or their genetic interactions within GRM7 and GMR8 genes were associated with these disorders in the Han Chinese population. Fourteen SNPs in GRM7 and GRM8 were selected within a sample set comprising 1235 SCZ patients, 1045 MDD patients and 1235 normal controls. Significant association in SCZ case-control subjects was observed for rs2229902 (permutated Pallele=0.0005, OR=1.492 [95% CI=1.231-1.807]) and rs9870680 (permutated Pallele=0.0023, OR=1.262 [95% CI=1.116-1.426]) in GRM7 and rs2237781 (permutated Pallele=0.0027, OR=1.346 [95% CI=1.149-1.575]) in GRM8. Association analysis for MDD case-control subjects revealed positive results in rs779706 (permutated Pallele=0.0099, OR=1.237 [95% CI=1.093-1.399]) of GRM7 and in rs1361995 (permutated Pallele=0.0017, OR=1.488 [95% CI=1.215-1.823]) of GRM8. Moreover, a three-locus model, constituted by polymorphisms in GRM7 and GRM8 significantly correlated with MDD in the gene-gene interaction analysis. Meta-analysis and haplotype analysis further confirmed our significant results. We demonstrated the genetic association of GRM7 and GRM8 with SCZ and MDD in the Han Chinese population. We also found susceptibility interactive effects of these two genes with both psychiatric disorders, which might provide new insights into the etiology of them.

  11. CTLA-4 confers a risk of recurrent schizophrenia, major depressive disorder and bipolar disorder in the Chinese Han population.

    PubMed

    Liu, Jie; Li, Junyan; Li, Tao; Wang, Ti; Li, You; Zeng, Zhen; Li, Zhiqiang; Chen, Peng; Hu, Zhiwei; Zheng, Lingqing; Ji, Jue; Lin, He; Feng, Guoyin; Shi, Yongyong

    2011-03-01

    Previous studies have reported that the cytotoxic T lymphocyte antigen-4 (CTLA-4) gene, which is related to immunological function such as T-cell regulation, is associated with psychiatric disorders. In this study, we studied the relationship between CTLA-4 and three major psychiatric disorders, schizophrenia, major depressive disorder and bipolar disorder in the Chinese Han population. We recruited 1140 schizophrenia patients, 1140 major depressive disorder patients, 1140 bipolar disorder patients, and 1140 normal controls to examine the risk conferred by 6 tag SNPs (rs231777, rs231775, rs231779, rs3087243, rs5742909, rs16840252) in the CTLA-4 gene. We found that rs231779 conferred a risk for schizophrenia (P(allele)=0.0003, P(genotype)=0.0016), major depressive disorder (P(allele)=0.0006, P(genotype)=0.0026) and bipolar disorder (P(allele)=0.0004, P(genotype)=0.0018). In addition, rs231777 and rs16840252 had a significant association with schizophrenia (rs231777: P(allele)=0.0201, rs16840252: P(allele)=0.0081, P(genotype)=0.0117), and rs231777 had significant association with bipolar disorder (rs231777: P(allele)=0.0199). However, after 10,000 permutations, only rs231779 remained significant (schizophrenia: P(allele)=0.0010, P(genotype)=0.0145, major depressive disorder: P(allele)=0.0010, P(genotype)=0.0201, bipolar disorder: P(allele)=0.0008, P(genotype)=0.0125). Our results suggest that shared common risk factors for schizophrenia, major depressive disorder and bipolar disorder exist in the CTLA-4 gene in the Chinese Han population.

  12. A new species and two new combinations in the genus Strotihypera Kononenko & Han, 2011 (Lepidoptera, Noctuidae, Noctuinae: Elaphriini). A postscript to the description of the genus Strotihypera.

    PubMed

    Han, H L; Kononenko, V S

    2015-10-30

    Elaphriini is a small tribe of the subfamily Noctuinae with predominantly New World distribution. Only three genera, Elaphria Hübner, 1818 with four species, Galgula Guenée, 1852 with one species (Fibiger & Hacker 2010) and Strotihypera Kononenko & Han, 2011 with one species are known from the Eurasia. The majority of species occurs in tropical and subtropical regions. The review of Eurasian Elaphriini with description of the new genus Strotihypera has recently been published by Kononenko & Han (2011). In the subsequent years in the result of intensive collecting in South West China we found a new species allied to Strotihypera flavipuncta (Leech, 1889) and two related species Strotihypera ochreipuncta (Wileman, 1914), comb. n. and "Hyperstrotia" macroplaga (Hampson, 1907), comb. n. The description of a new species and the review of two of its allies are presented here as a postscript to the description of the genus Strotihypera (Kononenko & Han 2011).

  13. Peroxisome proliferator-activated receptor delta +294T > C polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

    PubMed Central

    2010-01-01

    Background The association of peroxisome proliferator-activated receptor delta (PPARD) +294T > C polymorphism and serum lipid levels is inconsistent in several previous studies. Bai Ku Yao is an isolated subgroup of the Yao minority in China. The present study was undertaken to detect the association of PPARD +294T > C (rs2016520) polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 609 subjects of Bai Ku Yao and 573 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the PPARD +294T > C polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.001 for all). The frequency of T and C alleles was 77.50% and 22.50% in Bai Ku Yao, and 72.43% and 27.57% in Han (P < 0.01); respectively. The frequency of TT, TC and CC genotypes was 60.59%, 33.83% and 5.53% in Bai Ku Yao, and 52.18%, 40.50% and 7.32% in Han (P < 0.05); respectively. The subjects with CC genotype in Bai Ku Yao had higher serum LDL-C and ApoB levels and lower the ratio of ApoAI to ApoB than the subjects with TT and TC genotypes in females but not in males. The C allele carriers in Han had higher serum TC levels in males (P < 0.01) and ApoB levels in females (P < 0.05) than the C allele noncarriers. Serum TC and ApoB levels were correlated with genotypes in Han (P < 0.05 for each) but not in Bai Ku Yao. Serum lipid parameters were also correlated with sex, age, body mass index, alcohol consumption, cigarette smoking, and blood pressure in both ethnic groups. Conclusions These results suggest that the association of PPARD +294T > C polymorphism and serum lipid levels is

  14. Relationship between clopidogrel-related polymorphisms and variable platelet reactivity at 1 year: A cohort study from Han Chinese

    PubMed Central

    Wang, Xiaodong; Lai, Yan; Luo, Yu; Zhang, Xumin; Zhou, Hua; Ye, Zi; Tang, Jiani; Liu, Xuebo

    2016-01-01

    Background: This study was designed to investigate the effect of clopidogrel-related gene polymorphisms on platelet reactivity and clinical outcome in Chinese Han patients. Materials and Methods: Three hundred and thirty-six percutaneous coronary intervention - treated patients were recruited and followed for 1 year. Blood samples were collected from all patients for DNA genotyping. The platelet reactivity unit was measured by the VerifyNow technique. The CYP2C19*2, CYP2C19*3, CYP2C19*17, ATP-binding cassette subfamily B member 1, ITGB3, CYP2C9*3, CYP2B6*9, and P2Y12 alleles were assessed. Results: The clinical endpoints were related to previous heart disease history (11.90% vs. 28.57%, P = 0.017), stroke (12.24% vs. 16.67%, P = 0.039), and diabetes (27.55% vs. 52.38%, P = 0.047). High on-treatment platelet reactivity (HTPR) was frequent in advanced age (P = 0.019), male gender (P = 0.016), hypertension (P = 0.033), and chronic renal failure (P = 0.040). There were more endpoints in the CYP2C19*2 and P2Y12 mutant carriers (76.19% vs. 43.20%, P < 0.001; 50.00% vs. 35.71%, P = 0.001, respectively), whereas fewer in the CYP2C19*17 mutant carriers (11.90% vs. 56.46%, P = 0.001). CYP2C19*2 and P2Y12 polymorphism manifested HTPR (194.25 ± 45.91 vs. 151.38 ± 58.14, P < 0.001; 180.33 ± 67.25 vs. 161.89 ± 56.49, P = 0.008, respectively), whereas CYP2C19*17 mutant improved platelet reactivity (97.17 ± 45.38 vs. 169.08 ± 57.15, P = 0.003). However, there were no further cardiovascular deaths in endpoint patients. Conclusion: In Han Chinese people of mainland China, clopidogrel-related gene polymorphisms are related to variable platelet reactivity after clopidogrel maintenance dosing, which influences major adverse cardiovascular events, without an effect on cardiac death. PMID:28255319

  15. Significant Association Between CAV1 Variant rs3807989 on 7p31 and Atrial Fibrillation in a Chinese Han Population

    PubMed Central

    Chen, Shanshan; Wang, Chuchu; Wang, Xiaojing; Xu, Chengqi; Wu, Manman; Wang, Pengxia; Tu, Xin; Wang, Qing K

    2015-01-01

    Background Recent genome-wide association studies (GWAS) in European ancestry populations revealed several genomic loci for atrial fibrillation (AF). We previously replicated the 4q25 locus (PITX2) and 16q22 locus (ZFHX3) in the Chinese population, but not the KCNN3 locus on 1q21. With single-nucleotide polymorphism rs3807989 in CAV1 encoding caveolin-1, however, controversial results were reported in 2 Chinese replication studies. Methods and Results Six remaining AF genetic loci from GWAS, including rs3807989/CAV1, rs593479/PRRX1, rs6479562/C9orf3, rs10824026/SYNPO2L, rs1152591/SYNE2, and rs7164883/HCN4, were analyzed in a Chinese Han population with 941 cases and 562 controls. Only rs3807989 showed significant association with AF (Padj=4.77×10−5), and the finding was replicated in 2 other independent populations with 709 cases and 2175 controls, 463 cases and 644 controls, and the combined population with a total of 2113 cases and 3381 controls (Padj=2.20×10−9; odds ratio [OR]=1.34 for major allele G). Meta-analysis, together with data from previous reports in Chinese and Japanese populations, also showed a significant association between rs3807989 and AF (P=3.40×10−4; OR=1.24 for allele G). We also found that rs3807989 showed a significant association with lone AF in 3 independent populations and in the combined population (Padj=3.85×10−8; OR=1.43 for major allele G). Conclusions The data in this study revealed a significant association between rs3807989 and AF in the Chinese Han population. Together with the findings that caveolin-1 interacts with potassium channels Kir2.1, KCNH2, and HCN4 and sodium channels Nav1.5 and Nav1.8, CAV1 becomes a strong candidate susceptibility gene for AF across different ethnic populations. This study is the first to show a significant association between rs3807989 and lone AF. PMID:25953654

  16. GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.

    PubMed

    Zheng, Jing; Ying, Zhengbiao; Cai, Zhaoyang; Sun, Dongmei; He, Zheyun; Gao, Yinglong; Zhang, Ting; Zhu, Yi; Chen, Ye; Guan, Min-Xin

    2015-01-01

    Mutations in Gap Junction Beta 2 (GJB2) have been reported to be a major cause of non-syndromic hearing loss in many populations worldwide. The spectrums and frequencies of GJB2 variants vary substantially among different ethnic groups, and the genotypes among these populations remain poorly understood. In the present study, we carried out a systematic and extended mutational screening of GJB2 gene in 1067 Han Chinese subjects with non-syndromic hearing loss, and the resultant GJB2 variants were evaluated by phylogenetic, structural and bioinformatic analysis. A total of 25 (23 known and 2 novel) GJB2 variants were identified, including 6 frameshift mutations, 1 nonsense mutation, 16 missense mutations and 2 silent mutations. In this cohort, c.235delC is the most frequently observed pathogenic mutation. The phylogenetic, structural and bioinformatic analysis showed that 2 novel variants c.127G>T (p.V43L), c.293G>C (p.R98P) and 2 known variants c. 107T>C (p.L36P) and c.187G>T (p.V63L) are localized at highly conserved amino acids. In addition, these 4 mutations are absent in 203 healthy individuals, therefore, they are probably the most likely candidate pathogenic mutations. In addition, 66 (24 novel and 42 known) genotypes were identified, including 6 homozygotes, 20 compound heterozygotes, 18 single heterozygotes, 21 genotypes harboring only polymorphism(s) and the wild type genotype. Among these, 153 (14.34%) subjects were homozygous for pathogenic mutations, 63 (5.91%) were compound heterozygotes, and 157 (14.71%) carried single heterozygous mutation. Furthermore, 65.28% (141/216) of these cases with two pathogenic mutations exhibited profound hearing loss. These data suggested that mutations in GJB2 gene are responsible for approximately 34.96% of non-syndromic hearing loss in Han Chinese population from Zhejiang Province in eastern China. In addition, our results also strongly supported the idea that other factors such as alterations in regulatory regions

  17. Influence of polymorphisms in the Wnt/β-catenin pathway genes on hepatocellular carcinoma risk in a Chinese Han population

    PubMed Central

    Li, Qing-Min; Zhang, Feng-Qin; Li, Ya-Feng; Xian, Qing-Jie; Zhang, Yan-Qiang; Li, Peng

    2017-01-01

    Abstract The Wnt/β-catenin pathway plays a vital role in initiating and sustaining hepatocellular carcinoma (HCC). However, few studies have investigated polymorphisms in the Wnt/β-catenin signaling pathway genes in the Chinese Han population. The aim of the present retrospective study was to investigate the correlations between polymorphisms of the Wnt/β-catenin signaling pathway genes (CTNNB1 and WNT2) and HCC susceptibility, development, and progression. Twenty tagging single nucleotide polymorphisms were chosen from HapMap data and genotyped in 320 patients with HCC, 320 chronic hepatitis B virus (HBV)-infected patients without HCC (N-HCC, including 95 liver cirrhosis, 164 chronic hepatitis B, and 61 asymptomatic HBV carriers), and 320 healthy controls. Associations between polymorphisms in the 2 Wnt/β-catenin signaling pathway genes (CTNNB1 and WNT2) and HCC susceptibility, development, and progression were investigated. Genotype AA (P = 0.002, odds ratio [OR] = 2.524) and allele A (P = 0.0003, OR = 1.613) of the WNT2 rs4730775 polymorphism were associated with HCC susceptibility compared with healthy controls. Genotype GA (P = 0.001, OR = 0.567) and allele A (P = 0.002, OR = 0.652) of rs3864004, and genotype AG (P = 0.0004, OR = 0.495) and allele G (P = 0.001, OR = 0.596) of rs11564475 in the CTNNB1 gene were correlated with HCC compared with N-HCC patients. These findings were consistent in dominant and recessive models. Multidimensionality reduction analysis revealed that interactions among rs3864004, rs11564475, and rs4730775 were significantly associated with HCC compared with N-HCC patients. The polymorphism rs4135385 of CTNNB1 genotype GA was associated with a higher risk for Stage III + IV HCC (modified Union for International Cancer Control) (P = 0.001, OR = 2.238). Genetic polymorphisms in the WNT2 and CTNNB1 genes were closely associated with HCC risk and progression in a Chinese Han

  18. Association of Metabolic Factors with Symptomatic Hand Osteoarthritis in the Chinese Han Population Aged 40 Years and above

    PubMed Central

    Wang, Fei; Shi, Lei; Xue, Qing-Yun

    2016-01-01

    Background: The relationship between hand osteoarthritis (HOA) and systemic metabolic factors is unclear. The aim of this study was to investigate the prevalence of systemic metabolic factors including obesity, hypertension, diabetes mellitus, and atherosclerosis in symptomatic patients with HOA and the association between these systemic metabolic factors and symptomatic HOA in the Chinese Han population aged 40 years and above. Methods: A cross-sectional survey was conducted on Chinese Han population aged 40 years and above in six centers in China. The sociodemographic features, lifestyle of the participants, and medical history of hypertension, diabetes mellitus, and atherosclerosis were collected. The cases with hand symptoms underwent anteroposterior radiographic examination of both hands to obtain a diagnosis. The correlations between systemic metabolic factors and symptomatic HOA were analyzed using Logistic regression analysis. Results: Overweight (39.3% vs. 30.5%, P < 0.001), hypertension (34.7% vs. 18.6%, P < 0.001), diabetes mellitus (11.2% vs. 3.3%, P < 0.001), and atherosclerosis (19.8% vs. 8.3%, P < 0.001) were more prevalent in symptomatic patients with HOA than those in the population without HOA. Overweight (odds ratio [OR] = 1.35, 95% confidence interval [CI]: 1.10–1.65, P = 0.005), hypertension (OR = 1.47, 95% CI: 1.18–1.83, P < 0.001), and diabetes mellitus (OR = 2.45, 95% CI: 1.74–3.45, P < 0.001) were associated with a higher prevalence of symptomatic HOA and the OR of symptomatic HOA significantly increased with the accumulated number of the three metabolic factors. Symptomatic HOA was associated with a higher prevalence of atherosclerosis (OR = 1.39, 95% CI: 1.05–1.85, P = 0.023). Conclusions: Overweight, hypertension, and diabetes mellitus were associated with a higher prevalence of HOA, showing cumulative effects. Atherosclerosis risk should be assessed in patients with HOA. PMID:27647188

  19. Genetic polymorphism in hOGG1 is associated with triple-negative breast cancer risk in Chinese Han women.

    PubMed

    Xie, Hui; Xia, Kai; Rong, Hui; Chen, Xiaoxiang

    2013-10-01

    8-hydroxy-2'-deoxyguanine (8-OHdG), a typical product of oxidative stress-induced DNA damage, can cause a G-T transversion during DNA replication if it is not removed. Human 8-oxoguanine glycosylase 1 (hOGG1), a key DNA repair gene, recognizes and excises 8-OHdG from damaged DNA accurately; however, a c.977C>G (Ser326Cys) polymorphism in hOGG1 can inhibit the gene's ability to remove 8-OHdG. The aim of present study was to investigate the association between the c.977C>G polymorphism in hOGG1 and the risk of breast cancer in Chinese Han women. We used high-resolution melting and sequencing to analyze the genotypes of 630 patients with sporadic breast cancer patients and 777 healthy controls. We also performed risk-stratified subgroup analyses to determine the association between the c.977C>G polymorphism and other characteristics of breast cancer subgroups. Breast cancer patients and healthy controls did not have significantly different of c.977C/G genotypes (odds ratio [OR] = 1.10, 95% confidence interval [CI] = 0.82-1.49, p = 0.57) and c.977G/G genotypes (OR = 1.34, 95% CI = 0.97-1.84, p = 0.09). However, the c.977G/G genotype was especially prevalent in breast cancer patients who were younger than 55 years (OR = 1.58, 95% CI = 1.05-2.39, p = 0.04), were premenopausal status (OR = 1.87, 95% CI = 1.14-3.06, p = 0.02), had triple-negative disease (OR = 2.14, 95% CI = 1.06-4.29, p = 0.04), or p53-positive disease (OR = 1.56, 95% CI = 1.14-2.12, p = 0.005). These findings suggest that the c.977C>G polymorphism in hOGG1 is associated with an increased risk of breast cancer in Chinese Han women who are younger than 55 years, premenopausal, triple-negative, or p53-positive subgroups.

  20. Validation of Type 2 Diabetes Risk Variants Identified by Genome-Wide Association Studies in Northern Han Chinese

    PubMed Central

    Rao, Ping; Zhou, Yong; Ge, Si-Qi; Wang, An-Xin; Yu, Xin-Wei; Alzain, Mohamed Ali; Veronica, Andrea Katherine; Qiu, Jing; Song, Man-Shu; Zhang, Jie; Wang, Hao; Fang, Hong-Hong; Gao, Qing; Wang, You-Xin; Wang, Wei

    2016-01-01

    Background: More than 60 genetic susceptibility loci associated with type 2 diabetes mellitus (T2DM) have been established in populations of Asian and European ancestry. Given ethnic differences and environmental factors, validation of the effects of genetic risk variants with reported associations identified by Genome-Wide Association Studies (GWASs) is essential. The study aims at evaluating the associations of T2DM with 29 single nucleotide polymorphisms (SNPs) from 19 candidate genes derived from GWASs in a northern Han Chinese population. Method: In this case-control study, 461 T2DM-diagnosed patients and 434 controls were recruited at the Jidong oil field hospital (Hebei, China) from January 2009 to October 2013. A cumulative genetic risk score (cGRS) was calculated by summation of the number of risk alleles, and a weight GRS (wGRS) was calculated as the sum of risk alleles at each locus multiplied by their effect sizes for T2DM, using the independent variants selected. Result: The allelic frequency of the “A” allele at rs17106184 (Fas-associated factor 1, FAF1) was significantly higher in the T2DM patients than that of the healthy controls (11.7% vs. 6.4%, p < 0.001). Individuals in the highestquartile of wGRS had an over three-fold increased risk for developing T2DM compared with those in the lowest quartile (odds ratio = 3.06, 95% CI = 1.92–4.88, p < 0.001) adjusted for age, sex, BMI, total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), systolic blood pressure (SBP) and diastolic blood pressure (DBP). The results were similar when analyzed with the cGRS. Conclusions: We confirmed the association between rs17106184 (FAF1) and T2DM in a northern Han Chinese population. The GRS calculated based on T2DM susceptibility variants may be a useful tool for predicting the T2DM susceptibility. PMID:27589775

  1. Correlation between single nucleotide polymorphism of FCRL-3 gene and Graves’ disease in Han population of northern Anhui province, China

    PubMed Central

    Jin, Guo-Xi; Zhou, Yu-Ye; Yu, Lei; Bi, Ya-Xin

    2015-01-01

    Objective: The frequency distribution of A/G genotype at position-169 in promoter of FCRL3 gene (Fc receptor-like 3) was identified in Han population of northern Anhui Province. The correlation between single nucleotide polymorphism (SNP) at this site and genetic susceptibility of Graves disease (GD) was discussed. How the genotype at this position correlated to age, gender, severity of goiter, presence or absence of exophthalmos, levels of thyrotrophin receptor antibody (TRab), thyroid peroxidase antibody (TpoAb) and anti-thyroglobulin antibody (TgAb) and thyroid function was analyzed in details. Method: Peripheral venous blood was collected for DNA extraction. SNP at position-169 in the promoter of FCRL3 gene was determined by using PCR-RELP among 180 GD cases and 146 normal subjects. Thyroid function tests and antibody detection were performed. Results: The frequency of GG genotype of position-169 in promoter of FCRL3 gene was higher in GD group than in control group. The frequency was 28.9% and 13.8%, respectively, showing significant differences in intergroup comparison (χ2=6.618, P=0.046). The G allele frequency of GD group and control group was 49.4% and 40.4%, respectively, also showing significant differences between the groups (χ2=5.308, P=0.021). GD cases with AA, AG and GG genotypes at position-169 in FCRL3 promoter had significant differences in serum level of TRAb (χ2=7.319, P=0.026). However, no significant differences in gender, severity of goiter, TpoAb and TgAb level, presence or absence of exophthalmos and thyroid function (FT3, FT4, TSH) were found between the three genotypes (P>0.05). Conclusion: A/G SNP at position-169 in promoter of FCRL3 gene was correlated with susceptibility to GD among Han population in northern Anhui Province. G allele may contribute to the susceptibility to GD and correlate to positive TRAb result in thyroid diseases, but not to age of onset, gender, presence or absence of exophthalmos, thyroid function, TpoAb and Tg

  2. The NVL gene confers risk for both major depressive disorder and schizophrenia in the Han Chinese population.

    PubMed

    Wang, Meng; Chen, Jianhua; He, Kuanjun; Wang, Qingzhong; Li, Zhiqiang; Shen, Jiawei; Wen, Zujia; Song, Zhijian; Xu, Yifeng; Shi, Yongyong

    2015-10-01

    NVL (nuclear VCP (valosin containing protein)/p97-Like), a member of the AAA-ATPase (ATPases associated with various cellular activities) family, encodes a novel hTERT (human telomerase reverse transcriptase)-interacting protein NVL2 which is a telomerase component essential for holoenzyme assembly. Previous researches have reported the impacts of telomerase activity on mental illness and the potential association between NVL and major depressive disorder. To validate the susceptibility of NVL to major depressive disorder, and to investigate the overlapping risk conferred by NVL for both major depressive disorder and schizophrenia, we analyzed 9 tag single nucleotide polymorphisms (tag SNPs) using TaqMan® technology, in 1045 major depressive disorder patients, 1235 schizophrenia patients and 1235 normal controls of Han Chinese origin. We found that rs10916583 (P(allele) = 0.020, P(genotype) = 0.028, OR = 1.156) and rs16846649 (adjusted P(allele) = 0.014, P(genotype) = 0.007, OR = 0.718) were associated with major depressive disorder, while rs10916583 (adjusted P(allele) = 1.08E-02, OR = 1.213), rs16846649 (adjusted P(allele) = 7.40E-06, adjusted P(genotype) = 8.07E-05, OR = 0.598) and rs10799541 (adjusted P(allele) = 8.10E-03, adjusted P(genotype) = 0.049, OR= 0.826) showed statistically significant association with schizophrenia after Bonferroni correction. Furthermore, rs10916583 (adjusted P(allele) = 9.00E-03, adjusted P(genotype) = 3.15E-02, OR = 1.187) and rs16846649 (adjusted P(allele) = 8.92E-06, adjusted P(genotype) = 8.84E-05, OR = 0.653) remained strongly associated with the analysis of combined cases of major depressive disorder and schizophrenia after Bonferroni correction. Our results indicated that the NVL gene may contain overlapping common genetic risk factors for major depressive disorder and schizophrenia in the Han Chinese population. The roles of NVL in telomerase biogenesis were also highlighted in psychiatric pathogenesis. The study on

  3. Advanced paternal age increases the risk of schizophrenia and obsessive-compulsive disorder in a Chinese Han population.

    PubMed

    Wu, Yuejing; Liu, Xiang; Luo, Hongrong; Deng, Wei; Zhao, Gaofeng; Wang, Qiang; Zhang, Lan; Ma, Xiaohong; Liu, Xiehe; Murray, Robin A; Collier, David A; Li, Tao

    2012-08-15

    Using the Structured Clinical Interview for DSM-IV, patient and non-patient version (SCID-P/NP), this study investigated 351 patients with schizophrenia, 122 with obsessive-compulsive disorder (OCD), and 238 unrelated healthy volunteers in a Chinese Han population. The relative risks posed by advanced paternal age for schizophrenia and OCD in offspring were computed under logistic regression analyses and adjusted for the participant's sex, age and co-parent age at birth. Compared to the offspring with paternal age of 25-29 years old, the relative risks rose from 2.660 to 10.183 in the paternal age range of 30-34 and ≥35. The relative risks for OCD increased from 2.225 to 5.413 in 30-34 and ≥35. For offspring with paternal age of <25, the odds ratios of developing schizophrenia and OCD were 0.628 and 0.289 respectively, whereas an association between increased maternal age and risk for schizophrenia/OCD was not seen. Interaction analysis showed an interaction effect between paternal age and maternal age at birth. Such a tendency of risk affected by parental age for schizophrenia and OCD existed after splitting out the data of early onset patients. Sex-specific analyses found that the relative risks for schizophrenia with paternal age of 30-34 and ≥35 in male offspring were 2.407 and 10.893, and in female offspring were 3.080 and 9.659. The relative risks for OCD with paternal age of 30-34 and ≥35 in male offspring were 3.493 and 7.373, and in female offspring 2.005 and 4.404. The mean paternal age of schizophrenia/OCD patients born before the early 1980s was much greater than that of patients who were born after then. The findings illustrated that advanced paternal age is associated with increased risk for both schizophrenia and OCD in a Chinese Han population, prominently when paternal age is over 35. Biological and non-biological mechanisms may both be involved in the effects of advanced paternal age on schizophrenia and OCD.

  4. Establishing a reference interval for serum anti-dsDNA antibody: A large Chinese Han population-based multi-center study

    PubMed Central

    Deng, Chuiwen; Zhang, Shulan; Hu, Chaojun; Li, Ping; Wu, Ziyan; Chen, Si; Li, Jing; Li, Liubing; Zhang, Fengchun; Li, Yongzhe

    2017-01-01

    Background A reference interval (RI) for the circulating concentration of anti-dsDNA antibody is essential for clinicians to interpret laboratory results and make clinical decisions. Therefore, we aimed to establish the RI for anti-dsDNA antibody in the Chinese Han population. Methods This study was designed and carried out in accordance with guideline C28-A3, which is proposed by the International Federation of Clinical Chemistry and the Clinical and Laboratory Standards Institute. A total of 2,880 apparently healthy individuals were enrolled using a posteriori sampling. These individuals were recruited from four hospitals, representing the Han populations of north, south, east, and west China. Serum anti-dsDNA antibody levels were measured using the three analytical systems AESKU, EUROIMMUNE, and INOVA, which are the most commonly used systems in China. Individuals were stratified by gender, age, and region, and the RIs were obtained by nonparametric methods. Results Gender-specific RIs for serum anti-dsDNA antibody in the Chinese Han population were established. Conclusion This is the first exploration of the RI for anti-dsDNA antibody in the Chinese Han population. We have established gender-specific RIs for each assay method commonly used in China. PMID:28151970

  5. SNP-SNP interactions between WNT4 and WNT5A were associated with obesity related traits in Han Chinese Population

    PubMed Central

    Dong, Shan-Shan; Hu, Wei-Xin; Yang, Tie-Lin; Chen, Xiao-Feng; Yan, Han; Chen, Xiang-Ding; Tan, Li-Jun; Tian, Qing; Deng, Hong-Wen; Guo, Yan

    2017-01-01

    Considering the biological roles of WNT4 and WNT5A involved in adipogenesis, we aimed to investigate whether SNPs in WNT4 and WNT5A contribute to obesity related traits in Han Chinese population. Targeted genomic sequence for WNT4 and WNT5A was determined in 100 Han Chinese subjects and tag SNPs were selected. Both single SNP and SNP × SNP interaction association analyses with body mass index (BMI) were evaluated in the 100 subjects and another independent sample of 1,627 Han Chinese subjects. Meta-analyses were performed and multiple testing corrections were carried out using the Bonferroni method. Consistent with the Genetic Investigation of ANthropometric Traits (GIANT) dataset results, we didn’t detect significant association signals in single SNP association analyses. However, the interaction between rs2072920 and rs11918967, was associated with BMI after multiple testing corrections (combined P = 2.20 × 10−4). The signal was also significant in each contributing data set. SNP rs2072920 is located in the 3′-UTR of WNT4 and SNP rs11918967 is located in the intron of WNT5A. Functional annotation results revealed that both SNPs might be involved in transcriptional regulation of gene expression. Our results suggest that a combined effect of SNPs via WNT4-WNT5A interaction may affect the variation of BMI in Han Chinese population. PMID:28272483

  6. The effect of MTHFR C677T polymorphism on type 2 diabetes mellitus with vascular complications in Chinese Han population: a meta-analysis.

    PubMed

    Zhang, Dan; Zhou, Yijun; Han, Lingling; Ji, Hongmei; Li, Jia

    2014-01-01

    Methylenetetrahydrofolate reductase plays an important role in folate metabolism. Individuals who are type 2 diabetes mellitus have greatest risk for the development of vascular complications. The results of studies which assessed the association between MTHFR C677T polymorphism and T2DM with vascular complications were inconsistent in the Chinese Han population. The purpose of this meta-analysis was to assess the associations between MTHFR C677T polymorphism and T2DM with vascular complications in the Chinese Han population. We collected all relevant articles on MTHFR C677T polymorphisms and T2DM with vascular complications in the Chinese Han population in multiple electronic databases which were searched to December 2013. Fixed-effects and random-effects meta-analyses were performed to assess the odds ratios (ORs). Stratified Analysis, sensitivity Analysis and publication bias were examined. A total of 1984 diabetic patients with vascular complications and 1703 single diabetic patients were found in meta-analysis. There was a significant association between MTHFR C677T polymorphisms and T2DM with vascular complications under recessive genetic model, dominant genetic model, homozygous genetic model, heterozygous genetic model and allele comparison. Sensitivity analysis indicated that the overall result was dependable. Our meta-analysis suggests the MTHFR C677T polymorphisms is associated with T2DM with vascular complications in the Chinese Han population.

  7. Learning Pathways, Learning Progression--The Process Matters: An Interview with Prof. Hans Niedderer about His Work as a Physics Education Researcher in Germany

    ERIC Educational Resources Information Center

    Kulgemeyer, Christoph

    2014-01-01

    Hans Niedderer has contributed a lot to German physics education research. His work includes quantitative and qualitative studies about topics like the learning of physics concepts or the history and philosophy of science in science teaching, he has worked on theoretical issues as well as on textbooks. But it is not only his work that is…

  8. Chinese Army Building in the Era of Jiang Zemin

    DTIC Science & Technology

    2000-08-01

    London: Oxford University Press, 1999, p. 186. 8. On the development and training of rapid reaction forces, see Andrew N. D. Yang and Colonel Milton...Wen-Chung Liao (ret.), “PLA Rapid Reaction Forces: Concept, Training, and Preliminary Assessment,” in James C. Mulvenon and Richard H. Yang , eds., The...National Military Strategy,” in Mulvenon and Yang , eds., The People’s Liberation Army in the Information Age, pp. 103-107. 12. Roger Garside, Coming

  9. Association of methylenetetrahydrofolate reductase C677T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

    PubMed Central

    2010-01-01

    Background The association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics. Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677T polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.05-0.001). The frequency of C and T alleles was 77.4% and 22.6% in Bai Ku Yao, and 60.9% and 39.1% in Han (P < 0.001); respectively. The frequency of CC, CT and TT genotypes was 58.7%, 37.3% and 4.0% in Bai Ku Yao, and 32.6%, 56.4% and 11.0% in Han (P < 0.001); respectively. The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes (P < 0.05-0.01). The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes (P < 0.05). The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC, TG and LDL-C in Bai Ku Yao were correlated with genotypes (P < 0.05-0.001), whereas the levels of LDL-C in Han were associated with genotypes (P < 0.001). Serum lipid parameters were also correlated with sex, age, body mass index, alcohol consumption, cigarette smoking, and blood pressure in the both ethnic

  10. Polymorphism of rs1044925 in the acyl-CoA:cholesterol acyltransferase-1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

    PubMed Central

    2010-01-01

    Background The association of rs1044925 polymorphism in the acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) gene and serum lipid profiles is not well known in different ethnic groups. Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was carried out to clarify the association of rs1044925 polymorphism in the ACAT-1 gene and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 626 subjects of Bai Ku Yao and 624 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of rs1044925 polymorphism in the ACAT-1 gene was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.01 for all). The frequency of A and C alleles was 79.0% and 21.0% in Bai Ku Yao, and 87.3% and 12.7% in Han (P < 0.001); respectively. The frequency of AA, AC and CC genotypes was 63.2%, 31.4% and 5.2% in Bai Ku Yao, and 75.6%, 23.2% and 1.1% in Han (P < 0.001); respectively. The levels of TC, LDL-C and ApoB in Bai Ku Yao but not in Han were different between the AA and AC/CC genotypes in females but not in males (P < 0.05 for all). The C allele carriers had lower serum TC, LDL-C and ApoB levels as compared with the C allele noncarriers. The levels of TC, LDL-C and ApoB in Bai Ku Yao but not in Han were correlated with genotypes in females but not in males (P < 0.05 for all). Serum lipid parameters were also correlated with sex, age, body mass index, alcohol consumption, and blood pressure in both ethnic groups (P < 0.05-0.001). Conclusions These results suggest that the polymorphism of rs1044925 in the ACAT-1 gene is mainly associated with female serum TC, LDL-C and

  11. The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

    PubMed Central

    2011-01-01

    Background Proprotein convertase subtilisin-like kexin type 9 (PCSK9) plays a key role in regulating plasma low-density lipoprotein cholesterol (LDL-C) levels. However, the association of E670G (rs505151) polymorphism in the PCSK9 gene and serum lipid levels is inconsistent in several previous studies. The present study was undertaken to detect the association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 649 subjects of Bai Ku Yao and 646 participants of Han were randomly selected from our previous samples. Genotypes of the PCSK9 E670G polymorphism were determined via polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results Serum levels of total cholesterol, high-density lipoprotein cholesterol (HDL-C), LDL-C, and apolipoprotein (Apo) AI were lower in Bai Ku Yao than in Han (P < 0.01 for all). The frequency of G allele was 2.00% in Bai Ku Yao and 4.80% in Han (P < 0.01). There was significant difference in the genotypic and allelic frequencies between Bai Ku Yao and Han (P < 0.01); between normal LDL-C (≤ 3.20 mmol/L) and high LDL-C subgroups (> 3.20 mmol/L, P < 0.01) in Bai Ku Yao; and between normal HDL-C (≥ 0.91 mmol/L) and low HDL-C (< 0.91 mmol/L, P < 0.05), between normal ApoAI (≥ 1.00 g/L) and low ApoAI (< 1.00 g/L, P < 0.05), or between normal ApoAI/ApoB ratio (≥ 1.00) and low ApoAI/ApoB ratio (< 1.00, P < 0.01) subgroups in Han. The G allele carriers in Han had higher serum HDL-C levels and the ratio of ApoAI to ApoB than the G allele noncarriers. The G allele carriers in Han had higher serum HDL-C and ApoAI levels than the G allele noncarriers in males (P < 0.05 for each), whereas the G allele carriers had lower serum ApoB levels and higher the ratio of ApoAI to ApoB than the G allele noncarriers in females (P < 0.05 for all). Serum HDL-C and Apo

  12. Study on a quantitative electroencephalography power spectrum typical of Chinese Han Alzheimer's disease patients by using wavelet transforms

    NASA Astrophysics Data System (ADS)

    Wan, Baikun; Ming, Dong; Fu, Xiaomeng; Yang, Chunmei; Qi, Hongzhi; Chen, Binjin

    2006-03-01

    Our objective was to investigate the quantitative electroencephalogram (EEG) power spectrum typical of Chinese Han ethnic Alzheimer's disease (AD) patients. A study on the resting EEG was carried out on 103 local AD (NINCDS-ADRDA criteria) patients, and 124 age-matched normal elderly subjects served as controls. A novel multi-resolution decomposition algorithm based on Daubechies wavelet transform was employed for EEG spectral analysis. This algorithm decomposed recorded EEG signals into components with five frequency subbands, which especially provided more electroneural activity details in comparison with the conventional four subbands. A significant prevalence of an EEG spectrum characterized by increased slow activity with decreased fast activity was found in these patients. Moreover, the spectral power increase/decrease was mainly centralized in the below-2 Hz/over-8 Hz band, whereas the 2-8 Hz band did not show any widespread change. In conclusion, this study may provide some evidence of specific spectral changes of EEG affected by AD in China.

  13. Catechol-O-methyltransferase polymorphisms do not play a significant role in pain perception in male Chinese Han population.

    PubMed

    Xiang, Xiaohui; Jiang, Yin; Ni, Yanjun; Fan, Min; Shen, Fang; Wang, Xuewei; Han, Jisheng; Cui, Cailian

    2012-03-01

    Polymorphisms in the human catechol-O-methyltransferase (COMT) gene have been widely studied for their role in pain and analgesia. In this study, sensitivity to potassium iontophoresis, visual analog scale measurements for fixed twofold pain threshold stimulation and pain threshold changes induced by transcutaneous electrical acupoint stimulation (TEAS) were assessed in a population of healthy Chinese males. These results were correlated with the alleles of six single nucleotide polymorphisms (SNP) or diplotypes of common haplotypes designated as low pain sensitive, average pain sensitive, and high pain sensitive in the COMT gene of these subjects. Our results reveal that the alleles of each SNP are not significantly correlated with pain perception except for the rs4633 allele in the 2 Hz TEAS session (P < 0.05). In addition, the six diplotypes of COMT haplotypes, which cover 92.5% of the Chinese population, are also not correlated with pain perception. Moreover, there were no significant differences in pain threshold changes induced by 2 and 100 Hz TEAS among the diplotypes of each SNP or the various haplotypes. These results suggest that COMT activity do not play a significant role in pain perception and TEAS-induced analgesia in the Chinese Han male population.

  14. BCS, Nambu-Jona-Lasinio, and Han-Nambu: A sketch of Nambu's works in 1960-1965

    NASA Astrophysics Data System (ADS)

    Fujikawa, Kazuo

    2016-06-01

    The years 1960-1965 were a remarkable period for Yoichiro Nambu. Starting with a reformulation of BCS theory with emphasis on gauge invariance, he recognized the realization of spontaneous chiral symmetry breaking in particle physics as evidenced by the Goldberger-Treiman relation. A concrete model of Nambu and Jona-Lasinio illustrated the essence of the Nambu-Goldstone theorem and the idea of soft pions. After the proposal of the quark model by Gell-Mann, he together with Han constructed an alternative model of integrally charged quarks with possible non-Abelian gluons. All these remarkable works were performed during the years 1960-1965. Here I briefly review those works following the original papers of Nambu chronologically, together with a brief introduction to a formulation of Noether's theorem and the Ward-Takahashi identities using path integrals. This article is mostly based on a lecture given at the Nambu Memorial Symposium held at Osaka City University in September 2015, where Nambu started his professional career.

  15. Identification of rare variants of DSP gene in Sudden Unexplained Nocturnal Death Syndrome in the southern Chinese Han population

    PubMed Central

    Zhao, Qianhao; Chen, Yili; Peng, Longlun; Gao, Rui; Liu, Nian; Jiang, Pingping; Liu, Chao; Tang, Shuangbo

    2016-01-01

    Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Desmoplakin (DSP) gene was the first desmosomal gene linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) which was associated with sudden death. To identify the genetic variants of the DSP gene in SUNDS in the southern Chinese Han population, we genetically screened the DSP gene in 40 sporadic SUNDS victims, 16 Brugada syndrome (BrS) patients and 2 Early Repolarization syndrome (ERS) patients using Next Generation Sequencing (NSG) and direct Sanger sequencing. A total of 10 genetic variants of the DSP gene were detected in 11 cases, comprised of two novel missense mutations (p.I125F and p.D521A) and eight previously reported rare variants. Of eight reported variants, two were previously considered pathogenic (p.Q90R and p.R2639Q), three were predicted in silico to bepathogenic (p.R315C, p.E1357D and p.D2579H), and the rest three were predicted to be benign (p.N1234S, p.R1308Q and p.T2267S). This is the first report of DSP genetic screening in Chinese SUNDS and Brugada syndrome. Our results implies that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome. PMID:26585738

  16. Genome-wide screening for risk loci of idiopathic recurrent miscarriage in a Han Chinese population: a pilot study.

    PubMed

    Li Wang; Zeng Chan Wang; Cui Xie; Xiao Feng Liu; Mao Sheng Yang

    2010-06-01

    The etiology of recurrent miscarriage (RM) is extremely heterogeneous, including genetic, immunologic, anatomic, endocrinological, and infectious anomalies. About 50% of RM is unexplained or poorly understood, which is called idiopathic recurrent miscarriage (IRM). The primary aim of this study was to identify the genetic loci that might be susceptible to IRM. Forty-four Han Chinese patients with IRM during the first trimester of their pregnancies and 44 healthy sex- and ethnic-matched controls were enrolled in this study. A case-control and genome-wide study was performed and 430 polymorphic microsatellite markers were analyzed. Three loci, 6q27 (D6S446, P = .028), 9q33.1 (D9S1776, P = .037), and Xp22.11 (DXS1226, P = .008), significantly associated with IRM were found. This work identified 3 genetic regions that might harbor genes predisposed to IRM and provided new insights for future genetic and etiological study of IRM. Further study is required to confirm it.

  17. Transcriptome analysis of skeletal muscle at prenatal stages in Polled Dorset versus Small-tailed Han sheep.

    PubMed

    Liu, N; He, J N; Yu, W M; Liu, K D; Cheng, M; Liu, J F; He, Y H; Zhao, J S; Qu, X X

    2015-02-06

    The objectives of the present study were to identify additional genes that may play important roles in the regulation of skeletal muscle growth and development, and to provide fundamental information for understanding the underlying molecular mechanisms. Eighteen cDNA libraries were constructed from the longissimus muscle of Polled Dorset (PD) and Small-tailed Han (SH) fetuses. To reveal the differences between the two species, we analyzed the differences in gene expression in 60-, 90- and 120-day fetal skeletal muscle by applying Agilent ovine genome-wide microarray. In this study, we obtained 17,704 genes using a chip containing 39,242 probes. There were 88 differentially expressed genes in the 60-day group (P < 0.05), 128 genes in the 90-day group (P < 0.05), and 340 genes in the 120-day group (P < 0.05) between the two breeds. The differentially expressed genes were grouped in different GO categories and signaling pathways. These results suggested that there are many genetic differences in the muscle growth and development transcriptomes between these two breeds. This study laid the foundation for future genomic research in sheep.

  18. Angiotensin-converting enzyme I/D polymorphism and the risk of thoracic aortic dissection in Chinese Han population.

    PubMed

    Jing, Quanmin; Wang, Xiaozeng; Ma, Yingyan; Yang, Ming; Huang, Guiqi; Zhao, Xin; Han, Yaling

    2013-02-01

    Thoracic aortic dissection (TAD) is a catastrophic cardiovascular disease and is thought to have a genetic basis. Various studies have indicated that renin-angiotensin system plays an important role in the pathogenesis of aortic disease. To determine the association of the I/D polymorphism of ACE gene with the risk of TAD in a Chinese Han population, a hospital-based case-control study was designed consisting of 161 subjects with TAD and 256 control subjects. The genotype frequency of the ACE I/D polymorphism was determined by using a polymerase chain reaction assay. The overall distribution of ACE I/D genotypes was significantly different between the two groups. Compared with the controls, the frequency of DD genotypes and the D allele of ACE gene were significantly increased in TAD patients. Multivariate logistic regression adjusting for conventional vascular risk factors confirmed the association between the ACE I/D polymorphism and the susceptibility to TAD (OR 2.14, 95 % CI 1.38-3.32, P = 0.001). Our data demonstrated that the ACE I/D polymorphism appeared to be an important risk factor in the development of TAD. However, further validation in large population-based studies is needed to confirm the finding.

  19. TIMP-2 SNPs rs7342880 and rs4789936 are linked to risk of knee osteoarthritis in the Chinese Han Population.

    PubMed

    Xu, Pengcheng; Guo, Wen; Jin, Tianbo; Wang, Jihong; Fan, Dongsheng; Hao, Zengtao; Jing, Shangfei; Han, ChaoQian; Du, Jieli; Jiang, Dong; Wen, Shuzheng; Wang, Jianzhong

    2017-01-03

    This study aimed to investigate whether functional polymorphisms in the tissue inhibitors of metalloproteinase-2 (TIMP-2) gene are associated with susceptibility to knee osteoarthritis (OA) in the Chinese Han population. Six TIMP-2 single nucleotide polymorphisms (SNPs) were assayed using MassARRAY in 300 patients clinically and radiographically diagnosed with knee OA and in 428 controls. Allelic and genotypic frequencies were compared between groups. Logistic regression adjusting for age and gender was used to estimate risk associations between specific genotypes and knee OA by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). We found that allele "A" in rs7342880 was significantly associated with increased risk of knee OA (OR = 1.44, 95%CI = 1.09-1.91, p = 0.035). In addition, in the over-dominant model, rs4789936 correlated with reduced risk of knee OA, adjusting for age and gender (OR = 0.69, 95%CI = 0.49-0.98, p = 0.036). Finally, rs7342880 correlated with increased risk of knee OA in females. This study provides evidence that TIMP-2 is a knee OA susceptibility gene in the Chinese population and a potential diagnostic and preventive marker for the disease.

  20. Development of the 19 X-STR loci multiplex system and genetic analysis of a Zhejiang Han population in China.

    PubMed

    Yang, XingYi; Wu, WeiWei; Chen, LinLi; Liu, ChangHui; Zhang, XiaoFang; Chen, Ling; Feng, XingLin; Wang, HuiJun; Liu, Chao

    2016-08-01

    The 19 X-STRs multiplex system is a PCR-based amplification kit that facilitates simultaneous amplification of 19 X-chromosomal STR loci (i.e. DXS7423, DXS10148, DXS10159, DXS6809, DXS7424, DXS8378, DXS10164, DXS10162, DXS7132, DXS10079, DXS6789, DXS101, DXS10103,DXS10101, HPTRB, DXS10075, DXS10074, DXS10135, and DXS10134). Eleven loci were extensively used in an Investigator Qiagen Argus X-12 (DXS7423, DXS10148, DXS8378, DXS10162, DXS7132, DXS10079, DXS10103, DXS10101, HPTRB, DXS10074, and DXS10135). In this research, the multiplex system was tested for detection sensitivity, DNA mixtures, inhibitor tolerance and species specificity; SWGDAM Validation Guidelines - Approved December 2012 were followed for the human fluorescent STR multiplex PCR reagent. Samples from 181 unrelated Zhejiang Han individuals (121 males and 60 females) were typed using this multiplex system. The results show that this 19X-STRs multiplex system is a robust and reliable amplification means to facilitate forensic and human identification testing.

  1. Developmental validation of an X-Insertion/Deletion polymorphism panel and application in HAN population of China.

    PubMed

    Zhang, Suhua; Sun, Kuan; Bian, Yingnan; Zhao, Qi; Wang, Zheng; Ji, Chaoneng; Li, Chengtao

    2015-12-14

    InDels are short-length polymorphisms characterized by low mutation rates, high inter-population diversity, short amplicon strategy and simplicity of laboratory analysis. This work describes the developmental validation of an X-InDels panel amplifying 18 bi-allelic markers and Amelogenin in one single PCR system. Developmental validation indicated that this novel panel was reproducible, accurate, sensitive and robust for forensic application. Sensitivity testing of the panel was such that a full profile was obtainable even with 125 pg of human DNA with intra-locus balance above 70%. Specificity testing was demonstrated by the lack of cross-reactivity with a variety of commonly encountered animal species and microorganisms. For the stability testing in cases of PCR inhibition, full profiles have been obtained with hematin (≤1000 μM) and humic acid (≤150 ng/μL). For the forensic investigation of the 18 X-InDels in the HAN population of China, no locus deviated from the Hardy-Weinberg equilibrium and linkage disequilibrium. Since they are independent from each other, the CDPfemale was 0.999999726 and CDPmale was 0.999934223. The forensic parameters suggested that this X-Indel panel is polymorphic and informative, which provides valuable X-linked information for deficient relationship cases where autosomal markers are uninformative.

  2. Dopamine transporter dysfunction in Han Chinese people with chronic methamphetamine dependence after a short-term abstinence.

    PubMed

    Yuan, Jie; Lv, Rongbin; Robert Brašić, James; Han, Mei; Liu, Xingdang; Wang, Yuankai; Zhang, Guangming; Liu, Congjin; Li, Yu; Deng, Yanping

    2014-01-30

    Single-photon emission-computed tomography (SPECT) after the administration of (99m)Tc-TRODAT-1 was performed on healthy subjects and subjects with methamphetamine (METH)dependence at time 1 (T1) after 24-48 h of abstinence, time 2 (T2) after 2 weeks of abstinence, and time 3 (T3) after 4 weeks of abstinence. In contrast to values in controls, the values of the striatal DAT specific uptake ratios (SURs) in subjects with METH dependence were significantly lower at T1 (n=25), T2 (n=9), and T3 (n=8); a mild increase in SURs was observed at T2 and T3, but values were still significantly lower than those in controls. In subjects with METH dependence, there was a trend for a negative correlation of striatal DAT SURs and craving for METH at T1. METH craving, anxiety and depression scores significantly decreased from T1 to T2 to T3. We conclude that Han Chinese people with METH dependence experience significant striatal DAT dysfunction, and that these changes may be mildly reversible after 4 weeks of abstinence, but that DAT levels still remain significantly lower than those in healthy subjects. The mild recovery of striatal DAT may parallel improvements in craving, anxiety and depression.

  3. Genome-wide analysis of runs of homozygosity identifies new susceptibility regions of lung cancer in Han Chinese

    PubMed Central

    Wang, Cheng; Xu, Zhengfeng; Jin, Guangfu; Hu, Zhibin; Dai, Juncheng; Ma, Hongxia; Jiang, Yue; Hu, Lingmin; Chu, Minjie; Cao, Songyu; Shen, Hongbing

    2013-01-01

    Runs of homozygosity (ROHs) are a class of important but poorly studied genomic variations and may be involved in individual susceptibility to diseases. To better understand ROH and its relationship with lung cancer, we performed a genome-wide ROH analysis of a subset of a previous genome-wide case-control study (1,473 cases and 1,962 controls) in a Han Chinese population. ROHs were classified into two classes, based on lengths, intermediate and long ROHs, to evaluate their association with lung cancer risk using existing genome-wide single nucleotide polymorphism (SNP) data. We found that the overall level of intermediate ROHs was significantly associated with a decreased risk of lung cancer (odds ratio = 0.63; 95% confidence interval: 0.51-0.77; P = 4.78×10−6 ), while the long ROHs seemed to be a risk factor of lung cancer. We also identified one ROH region at 14q23.1 that was consistently associated with lung cancer risk in the study. These results indicated that ROHs may be a new class of variation which may be associated with lung cancer risk, and genetic variants at 14q23.1 may be involved in the development of lung cancer. PMID:23720676

  4. GURU v2.0: An interactive Graphical User interface to fit rheometer curves in Han's model for rubber vulcanization

    NASA Astrophysics Data System (ADS)

    Milani, G.; Milani, F.

    A GUI software (GURU) for experimental data fitting of rheometer curves in Natural Rubber (NR) vulcanized with sulphur at different curing temperatures is presented. Experimental data are automatically loaded in GURU from an Excel spreadsheet coming from the output of the experimental machine (moving die rheometer). To fit the experimental data, the general reaction scheme proposed by Han and co-workers for NR vulcanized with sulphur is considered. From the simplified kinetic scheme adopted, a closed form solution can be found for the crosslink density, with the only limitation that the induction period is excluded from computations. Three kinetic constants must be determined in such a way to minimize the absolute error between normalized experimental data and numerical prediction. Usually, this result is achieved by means of standard least-squares data fitting. On the contrary, GURU works interactively by means of a Graphical User Interface (GUI) to minimize the error and allows an interactive calibration of the kinetic constants by means of sliders. A simple mouse click on the sliders allows the assignment of a value for each kinetic constant and a visual comparison between numerical and experimental curves. Users will thus find optimal values of the constants by means of a classic trial and error strategy. An experimental case of technical relevance is shown as benchmark.

  5. TIMP-2 SNPs rs7342880 and rs4789936 are linked to risk of knee osteoarthritis in the Chinese Han Population

    PubMed Central

    Jin, Tianbo; Wang, Jihong; Fan, Dongsheng; Hao, Zengtao; Jing, Shangfei; Han, ChaoQian; Du, Jieli; Jiang, Dong; Wen, Shuzheng; Wang, Jianzhong

    2017-01-01

    This study aimed to investigate whether functional polymorphisms in the tissue inhibitors of metalloproteinase-2 (TIMP-2) gene are associated with susceptibility to knee osteoarthritis (OA) in the Chinese Han population. Six TIMP-2 single nucleotide polymorphisms (SNPs) were assayed using MassARRAY in 300 patients clinically and radiographically diagnosed with knee OA and in 428 controls. Allelic and genotypic frequencies were compared between groups. Logistic regression adjusting for age and gender was used to estimate risk associations between specific genotypes and knee OA by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). We found that allele “A” in rs7342880 was significantly associated with increased risk of knee OA (OR = 1.44, 95%CI = 1.09-1.91, p = 0.035). In addition, in the over-dominant model, rs4789936 correlated with reduced risk of knee OA, adjusting for age and gender (OR = 0.69, 95%CI = 0.49-0.98, p = 0.036). Finally, rs7342880 correlated with increased risk of knee OA in females. This study provides evidence that TIMP-2 is a knee OA susceptibility gene in the Chinese population and a potential diagnostic and preventive marker for the disease. PMID:27901480

  6. Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

    PubMed

    Zhao, Qianhao; Chen, Yili; Peng, Longlun; Gao, Rui; Liu, Nian; Jiang, Pingping; Liu, Chao; Tang, Shuangbo; Quan, Li; Makielski, Jonathan C; Cheng, Jianding

    2016-03-01

    Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Desmoplakin (DSP) gene was the first desmosomal gene linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) which was associated with sudden death. To identify the genetic variants of the DSP gene in SUNDS in the southern Chinese Han population, we genetically screened the DSP gene in 40 sporadic SUNDS victims, 16 Brugada syndrome (BrS) patients, and 2 early repolarization syndrome (ERS) patients using next generation sequencing (NSG) and direct Sanger sequencing. A total of 10 genetic variants of the DSP gene were detected in 11 cases, comprised of two novel missense mutations (p.I125F and p.D521A) and eight previously reported rare variants. Of eight reported variants, two were previously considered pathogenic (p.Q90R and p.R2639Q), three were predicted in silico to be pathogenic (p.R315C, p.E1357D and p.D2579H), and the rest three were predicted to be benign (p.N1234S, p.R1308Q, and p.T2267S). This is the first report of DSP genetic screening in Chinese SUNDS and Brugada syndrome. Our results imply that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome.

  7. The scientific legacy of Little Hans and Little Albert: future directions for research on specific phobias in youth.

    PubMed

    Ollendick, Thomas H; Muris, Peter

    2015-01-01

    We review issues associated with the phenomenology, etiology, assessment, and treatment of specific phobias in children and adolescents and provide suggestions for future research and clinical practice. In doing so, we highlight the early case studies of Little Hans and Little Albert and the advances that have been made following the publication of these seminal cases. In recent years, we have witnessed a deeper understanding of the etiology of specific phobias and developed a rich array of evidence-based assessments and treatments with which to address specific phobias in youth. Although much has been accomplished in this area of inquiry, we also note that much remains to be done before we can advance more fully our understanding, assessment, and treatment of specific phobias in youth. It will be important for future work to build more firmly on these developments and to better determine the moderators and mediators of change with our evidence-based treatments and to more vigorously pursue their dissemination in real-word settings.

  8. Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

    PubMed Central

    2014-01-01

    Background Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD). In this study, we investigated the PRRT2 gene mutation in a Chinese Han family with PKD and study the pathogenesis of the mutation with PRRT2 gene. Methods Peripheral venous blood was taken from the family members. Sanger sequencing was used for novel mutation sequencing. For the pathogenesis with the novel mutation was analyzed by bioinformatics, real-time PCR, subcellular localization and Western blot. Results The Sanger sequencing showed a novel mutation, c.186-187delGC, a deletion mutation, in exon 2 of the PRRT2 gene, the frameshift mutation generated a truncated protein that was stably expressed in transfected Human embryonic kidney (HEK) 293 cells. A subcellular localization assay in COS-7 cells with GFP-tagged protein showed nuclear localization for the mutant protein while the wild-type protein was localized in membranes. Co-transfection of HEK293 cells with wild-type and mutant expression plasmids cells did not influence mRNA or protein expression from the wild-type plasmid. Conclusions Our findings demonstrated that the c.186-187delGC mutation resulted in a truncated protein from the PRRT2 gene to involve in PKD pathogenesis with haploinsufficiency. The results extend the mutation spectrum of the PRRT2 gene and provide a new example for studying the pathogenesis of the mutated PRRT2 gene. PMID:25027704

  9. Association analysis between 12 genetic variants of ten genes and personality traits in a young chinese Han population.

    PubMed

    Gong, Pingyuan; Zheng, Anyun; Zhang, Kejin; Lei, Xu; Li, Fengchao; Chen, Dongmei; Chi, Wanyu; Tong, Xueli; Zheng, Zijian; Gao, Xiaocai; Zhang, Fuchang

    2010-09-01

    Some genes involved in neurotransmission synthesis and transmission have been hypothesized to affect personality traits. To investigate the possible roles of these genes in personality traits of 16 Personality Factor Questionnaire, we performed a population-based study in a young Chinese Han cohort. In the study, we selected some functional variations in ten candidate genes (COMT, DBH, DRD(2), DRD(3), DAT, MAOA, GRM(1), GRIN2B, 5-TH(2A), and 5-TH(6)) encoding components in dopamine, glutamate, and 5-hydroxytryptamine pathways. The results showed the T102C in 5-TH(2A) was associated with X3 (emotional and quiet alertness) and B (reasoning) (F = 4.71 and 6.23; p = 0.009 and 0.002), Val158Met in COMT with E (dominance) (F = 7.01; p = 0.0009), while the variations in DBH, DRD(2), DRD(3), MAOA, GRM(1), GRIN2B, and 5-TH(6) were not associated with any of the personality traits. This finding suggests that T102C in 5-TH(2A) and Val158Met in COMT play roles in some human personality traits.

  10. Association of Polymorphisms of the Receptor for Advanced Glycation Endproducts Gene with Schizophrenia in a Han Chinese Population

    PubMed Central

    Fu, Jiawu; Zuo, Xiang; Yin, Jingwen; Luo, Xudong; Li, Zheng; Lin, Juda

    2017-01-01

    Receptor for Advanced Glycation Endproducts (RAGE) is a member of the immunoglobulin superfamily that binds diverse ligands involved in the development of inflammatory damage and diverse chronic diseases including schizophrenia. Here, three single-nucleotide polymorphisms (SNPs) (G82S, -374T/A, and -429T/C) in the RAGE gene were genotyped in 923 patients with schizophrenia and 874 healthy-matched controls in a Han Chinese population using the SNaPshot technique. Additionally, we investigated the association among aforementioned SNPs with the clinical psychotic symptoms of the patients and neurocognitive function. Our study demonstrated that the frequencies of the TC + CC genotypes and the C allele in the -429T/C polymorphism were significantly lower in the patients compared with the controls (p = 0.031 and p = 0.034, resp.). However, the significant effect disappeared when using Bonferroni correction (p = 0.093 and p = 0.102, resp.). And there were no significant differences in the genotype and allele frequencies between the patients and the controls for G82S and -374T/A polymorphisms. Additionally, the -429T/C C allele carriers had marginally higher Symbol coding scores than the subjects with the TT genotypes [p = 0.031 and p (corr) = 0.093]. Our data indicate that the RAGE -429T/C polymorphism may be associated with the susceptibility of schizophrenia. PMID:28373983

  11. Genetic polymorphisms (rs10636 and rs28366003) in metallothionein 2A increase breast cancer risk in Chinese Han population

    PubMed Central

    Wang, Xi-Jing; Kang, Hua-Feng; Jin, Tian-Bo; Zhang, Shu-Qun; Guan, Hai-Tao; Yang, Peng-Tao; Liu, Kang; Liu, Xing-Han; Xu, Peng; Zheng, Yi; Dai, Zhi-Jun

    2017-01-01

    Genetic polymorphisms of MT2A are frequently observed in many different cancers. We performed this case-control study, including 459 breast cancer (BC) patients and 549 healthy controls from Northwest China, to evaluate the associations between two common MT2A polymorphisms (rs10636 and rs28366003) and BC risk. The MT2A polymorphisms were genotyped via Sequenom MassARRAY. The individuals with the rs28366003 A/G, A/G-G/G genotypes underwent a higher risk of BC (P<0.0001). And, the minor allele G of rs28366003 was related to an increased BC risk (P<0.0001). We also found a significantly increased BC risk with rs10636 polymorphism among homozygote and recessive models (P<0.05). Further subgroup analysis by clinical characteristics of BC patients showed that Scarff, Bloom and Richardson tumor grade (SBR) 1-2 have a higher expression of the minor allele of these two MT2A loci than SBR 3. Our results indicated that the rs10636 and rs28366003 polymorphisms in MT2A increased BC risk in Northwest Chinese Han population.   PMID:28228606

  12. Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model.

    PubMed

    Lin, Ping-I; Kuo, Po-Hsiu; Chen, Chia-Hsiang; Wu, Jer-Yuarn; Gau, Susan S-F; Wu, Yu-Yu; Liu, Shih-Kai

    2013-01-01

    Runs of homozygosity (ROH) may play a role in complex diseases. In the current study, we aimed to test if ROHs are linked to the risk of autism and related language impairment. We analyzed 546,080 SNPs in 315 Han Chinese affected with autism and 1,115 controls. ROH was defined as an extended homozygous haplotype spanning at least 500 kb. Relative extended haplotype homozygosity (REHH) for the trait-associated ROH region was calculated to search for the signature of selection sweeps. Totally, we identified 676 ROH regions. An ROH region on 11q22.3 was significantly associated with speech delay (corrected p = 1.73×10(-8)). This region contains the NPAT and ATM genes associated with ataxia telangiectasia characterized by language impairment; the CUL5 (culin 5) gene in the same region may modulate the neuronal migration process related to language functions. These three genes are highly expressed in the cerebellum. No evidence for recent positive selection was detected on the core haplotypes in this region. The same ROH region was also nominally significantly associated with speech delay in another independent sample (p = 0.037; combinatorial analysis Stouffer's z trend = 0.0005). Taken together, our findings suggest that extended recessive loci on 11q22.3 may play a role in language impairment in autism. More research is warranted to investigate if these genes influence speech pathology by perturbing cerebellar functions.

  13. Estimation of stature by using the dimensions of the right hand and right foot in Han Chinese adults.

    PubMed

    Zhang, Xinghua; Wei, Yu; Zheng, Lianbin; Yu, Keli; Zhao, Dapeng; Bao, Jinping; Li, Yonglan; Lu, Shunhua; Xi, Huanjiu; Xu, Guochang; Wen, Youfeng

    2017-01-01

    The Han Chinese people are the main ethnic group in China and the largest ethnic group in the world. The dimensions of the hands and feet have been successfully used for the estimation of stature. A total of 26,927 healthy adult subjects, comprising 13,221 men and 13,706 women, were recruited. The survey samples were chosen through random cluster sampling. The mean values were significantly higher in men than those in women for all measurements (P<0.001). All the measurements showed a statistically significant correlation with stature (P<0.01). The combination of the right hand length and the right foot length was the best predictor of stature because it had the lowest standard error of estimate. The use of multiple regression equations yielded better results than did the use of linear regression equations. The accuracy of stature prediction ranged from ±4.81 to ±6.39 cm. The present study was of great importance with regards to improving the physical anthropology database of ethnic groups in China.

  14. Hans A. Bethe Prize: Cosmic Collisions Online - Compact Binary Mergers, Gravitational Waves and Gamma-Ray Bursts

    NASA Astrophysics Data System (ADS)

    Shapiro, Stuart

    2017-01-01

    Hans A. Bethe elucidated our understanding of the fundamental forces of Nature by exploring and explaining countless phenomena occurring in nuclear laboratories and in stars. With the dawn of gravitational wave astronomy we now can probe compact binary mergers - Nature's cosmic collision experiments - to deepen our understanding, especially where strong-field gravitation is involved. In addition to gravitational waves, some mergers are likely to generate observable electromagnetic and/or neutrino radiation, heralding a new era of multimessenger astronomy. Robust numerical algorithms now allow us to simulate these events in full general relativity on supercomputers. We will describe some recent magnetohydrodynamic simulations that show how binary black hole-neutron star and neutron star-neutron star mergers can launch jets, lending support to the idea that such mergers could be the engines that power short gamma-ray bursts. We will also show how the magnetorotational collapse of very massive stars to spinning black holes immersed in magnetized accretion disks can launch jets as well, reinforcing the belief that such ``collapsars'' are the progenitors of long gamma-ray bursts. Computer-generated movies highlighting some of these simulations will be shown. We gratefully acknowledge support from NSF Grants 1300903 and 1602536 and NASA Grant NNX13AH44G.

  15. Common variants of the PINK1 and PARL genes do not confer genetic susceptibility to schizophrenia in Han Chinese.

    PubMed

    Li, Xiao; Zhang, Wen; Zhang, Chen; Yi, Zhenghui; Zhang, Deng-Feng; Gong, Wei; Tang, Jinsong; Wang, Dong; Lu, Weihong; Chen, Xiaogang; Fang, Yiru; Yao, Yong-Gang

    2015-04-01

    Schizophrenia is a prevalent psychiatric disorder with a complex etiology. Mitochondrial dysfunction has been frequently reported in schizophrenia. Phosphatase and tension homologue-induced kinase 1 (PINK1) and presenilin-associated rhomboid-like protease (PARL) are mitochondrial proteins, and genetic variants of these two genes may confer genetic susceptibility to schizophrenia by influencing mitochondrial function. In this study, we conducted a two-stage genetic association study to test this hypothesis. We genotyped 4 PINK1 and 5 PARL genetic variants and evaluated the potential association of the 9 SNPs with schizophrenia in two independent case-control cohorts of 2510 Han Chinese individuals. No positive association of common genetic variants of the PINK1 and PARL genes with schizophrenia was identified in our samples after Bonferroni correction. Re-analysis of the newly updated Psychiatric Genetics Consortium (PGC) data sets confirmed our negative result. Intriguingly, one PINK1 SNP (rs10916832), which showed a marginally significant association in only Hunan samples (P = 0.032), is associated with the expression of a schizophrenia susceptible gene KIF17 according to the expression quantitative trait locus (eQTL) analysis. Our study indicated that common genetic variants of the PINK1 and PARL genes are unlikely to be involved in schizophrenia. Further studies are essential to characterize the role of the PINK1 and PARL genes in schizophrenia.

  16. Developmental validation of an X-Insertion/Deletion polymorphism panel and application in HAN population of China

    PubMed Central

    Zhang, Suhua; Sun, Kuan; Bian, Yingnan; Zhao, Qi; Wang, Zheng; Ji, Chaoneng; Li, Chengtao

    2015-01-01

    InDels are short-length polymorphisms characterized by low mutation rates, high inter-population diversity, short amplicon strategy and simplicity of laboratory analysis. This work describes the developmental validation of an X-InDels panel amplifying 18 bi-allelic markers and Amelogenin in one single PCR system. Developmental validation indicated that this novel panel was reproducible, accurate, sensitive and robust for forensic application. Sensitivity testing of the panel was such that a full profile was obtainable even with 125 pg of human DNA with intra-locus balance above 70%. Specificity testing was demonstrated by the lack of cross-reactivity with a variety of commonly encountered animal species and microorganisms. For the stability testing in cases of PCR inhibition, full profiles have been obtained with hematin (≤1000 μM) and humic acid (≤150 ng/μL). For the forensic investigation of the 18 X-InDels in the HAN population of China, no locus deviated from the Hardy–Weinberg equilibrium and linkage disequilibrium. Since they are independent from each other, the CDPfemale was 0.999999726 and CDPmale was 0.999934223. The forensic parameters suggested that this X-Indel panel is polymorphic and informative, which provides valuable X-linked information for deficient relationship cases where autosomal markers are uninformative. PMID:26655948

  17. Identification and characterization of the highly polymorphic locus D14S739 in the Han Chinese population

    PubMed Central

    Shao, Chengchen; Zhang, Yaqi; Zhou, Yueqin; Zhu, Wei; Xu, Hongmei; Liu, Zhiping; Tang, Qiqun; Shen, Yiwen; Xie, Jianhui

    2015-01-01

    Aim To systemically select and evaluate short tandem repeats (STRs) on the chromosome 14 and obtain new STR loci as expanded genotyping markers for forensic application. Methods STRs on the chromosome 14 were filtered from Tandem Repeats Database and further selected based on their positions on the chromosome, repeat patterns of the core sequences, sequence homology of the flanking regions, and suitability of flanking regions in primer design. The STR locus with the highest heterozygosity and polymorphism information content (PIC) was selected for further analysis of genetic polymorphism, forensic parameters, and the core sequence. Results Among 26 STR loci selected as candidates, D14S739 had the highest heterozygosity (0.8691) and PIC (0.8432), and showed no deviation from the Hardy-Weinberg equilibrium. 14 alleles were observed, ranging in size from 21 to 34 tetranucleotide units in the core region of (GATA)9-18 (GACA)7-12 GACG (GACA)2 GATA. Paternity testing showed no mutations. Conclusion D14S739 is a highly informative STR locus and could be a suitable genetic marker for forensic applications in the Han Chinese population. PMID:26526885

  18. Low density lipoprotein receptor gene Ava II polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

    PubMed Central

    2011-01-01

    Background Several common genetic polymorphisms in the low density lipoprotein receptor (LDL-R) gene have associated with modifications of serum total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels, but the results are not consistent in different populations. Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was undertaken to detect the association of LDL-R gene Ava Ⅱ polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 1024 subjects of Bai Ku Yao and 792 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the LDL-R gene Ava Ⅱ polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum TC, high density lipoprotein cholesterol (HDL-C), LDL-C, apolipoprotein (Apo) A1 and the ratio of ApoA1 to ApoB were lower in Bai Ku Yao than in Han (P < 0.01 for all). The frequency of A- and A+ alleles was 65.5% and 34.5% in Bai Ku Yao, and 80.7% and 19.3% in Han (P < 0.001); respectively. The frequency of A-A-, A-A+ and A+A+ genotypes was 42.6%, 45.9% and 11.5% in Bai Ku Yao, and 64.9%, 31.6% and 3.5% in Han (P < 0.001); respectively. There was also significant difference in the genotypic frequencies between males and females in Bai Ku Yao (P <0.05), and in the genotypic and allelic frequencies between normal LDL-C (≤ 3.20 mmol/L) and high LDL-C (>3.20 mmol/L) subgroups in Bai Ku Yao (P < 0.05 for each) and between males and females in Han (P < 0.05 for each). The levels of LDL-C in males and TC and HDL-C in females were different among the three genotypes (P < 0.05 for all) in Bai Ku Yao, whereas the levels of HDL-C in males and HDL-C and ApoA1 in females were different among the three genotypes (P < 0.05-0.001) in Han. The subjects with A+A+ genotype had

  19. Associations between INSR and MTOR polymorphisms in type 2 diabetes mellitus and diabetic nephropathy in a Northeast Chinese Han population.

    PubMed

    Zhu, A N; Yang, X X; Sun, M Y; Zhang, Z X; Li, M

    2015-03-13

    We explored the associations of INSR and mTOR, 2 key genes in the insulin signaling pathway, and the susceptibility to type 2 diabetes mellitus and diabetic nephropathy. Three single-nucleotide polymorphisms (SNPs) (rs1799817, rs1051690, and rs2059806) in INSR and 3 SNPs (rs7211818, rs7212142, and rs9674559) in mTOR were genotyped using the Sequenom MassARRAY iPLEX platform in 89 type 2 diabetes patients without diabetic nephropathy, 134 type 2 diabetes patients with diabetic nephropathy, and 120 healthy control subjects. Statistical analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95%CI) for each SNP. Combination analyses between rs2059806 and rs7212142 were also performed using the X(2) test and logistic regression. Among these 6 SNPs, 4 (rs1799817, rs1051690, rs7211818, and rs9674559) showed no association with type 2 diabetes mellitus or diabetic nephropathy. However, rs2059806 in INSR was associated with both type 2 diabetes mellitus (P = 0.033) and type 2 diabetic nephropathy (P = 0.018). The rs7212142 polymorphism in mTOR was associated with type 2 diabetic nephropathy (P = 0.010, OR = 0.501, 95%CI = 0.288- 0.871), but showed no relationship with type 2 diabetes mellitus. Combination analysis revealed that rs2059806 and rs7212142 had a combined effect on susceptibility to type 2 diabetes mellitus and diabetic nephropathy. Our results suggest that both INSR and mTOR play a role in the predisposition of the Han Chinese population to type 2 diabetic nephropathy, but the genetic predisposition may show some differences.

  20. Association of SCN10A Polymorphisms with the Recurrence of Atrial Fibrillation after Catheter Ablation in a Chinese Han Population

    PubMed Central

    Wu, Haiqing; Xu, Juan; Chen, Songwen; Zhou, Genqing; Qi, Baozhen; Wei, Yong; Hu, En; Tang, Dongdong; Chen, Gang; Li, Hongli; Zhao, Liqun; Shi, Yongyong; Liu, Shaowen

    2017-01-01

    The nonsynonymous SCN10A single nucleotide polymorphism (SNP) rs6795970 has been reported to associate with PR interval and atrial fibrillation (AF) and in strong linkage disequilibrium (LD) with the AF-associated SNP rs6800541. In this study, we investigated whether rs6795970 polymorphisms are associated with AF recurrence after catheter ablation. A total of 502 consecutive patients with AF who underwent catheter ablation were included. AF recurrence was defined as a documented episode of any atrial arrhythmias lasting ≥30 s after a blanking period of 3 months. AF recurrence was observed between 3 and 12 months after catheter ablation in 24.5% of the patients. There was a significant difference in the allele distribution (p = 7.86 × 10−5) and genotype distribution (p = 1.42 × 10−5) of rs6795970 between the AF recurrence and no recurrence groups. In a multivariate analysis, we identified the following independent predictors of AF recurrence: the rs6795970 genotypes in an additive model (OR 0.36, 95%CI 0.22~0.60, p = 7.04 × 10−5), a history of AF ≥36 months (OR 3.57, 95%CI 2.26~5.63, p = 4.33 × 10−8) and left atrial diameter (LAD) ≥40 mm (OR 1.85, 95%CI 1.08~3.19, p = 0.026). These data suggest that genetic variation in SCN10A may play an important role in predicting AF recurrence after catheter ablation in the Chinese Han population. PMID:28281580

  1. Evidence for Association of Cell Adhesion Molecules Pathway and NLGN1 Polymorphisms with Schizophrenia in Chinese Han Population

    PubMed Central

    Jiang, Sisi; Liao, Jinmin; Lu, Tianlan; Wang, Lifang; Zhang, Dai; Yue, Weihua

    2015-01-01

    Multiple risk variants of schizophrenia have been identified by Genome-wide association studies (GWAS). As a complement for GWAS, previous pathway-based analysis has indicated that cell adhesion molecules (CAMs) pathway might be involved in the pathogenesis of schizophrenia. However, less replication studies have been reported. Our objective was to investigate the association between CAMs pathway and schizophrenia in the Chinese Han population. We first performed a pathway analysis utilizing our previous GWAS data. The CAMs pathway (hsa04514) was significantly associated with schizophrenia using hybrid gene set-based test (P = 1.03×10−10) and hypergeometric test (P = 5.04×10−6). Moreover, 12 genes (HLA-A, HLA-C, HLA-DOB, HLA-DPB1, HLA-DQA2, HLA-DRB1, MPZ, CD276, NLGN1, NRCAM, CLDN1 and ICAM3) were modestly significantly associated with schizophrenia (P<0.01). Then, we selected one promising gene neuroligin 1 (NLGN1) to further investigate the association between eight significant SNPs and schizophrenia in an independent sample (1814 schizophrenia cases and 1487 healthy controls). Our study showed that seven SNPs of NLGN1 and two haplotype blocks were significantly associated with schizophrenia. This association was confirmed by the results of combined analysis. Among them, SNP rs9835385 had the most significant association with schizophrenia (P = 2.83×10−7). Furthermore, in silico analysis we demonstrated that NLGN1 is preferentially expressed in human brain and SNP rs1488547 was related to the expression level. We validated the association of CAMs pathway with schizophrenia in pathway-level and identified one susceptibility gene NLGN1. Further investigation of the roles of CAMs pathway in the pathogenesis of schizophrenia is warranted. PMID:26674772

  2. FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese.

    PubMed

    Yu, Hongsong; Luo, Le; Wu, Lili; Zheng, Minming; Zhang, Lijun; Liu, Yunjia; Li, Hua; Cao, Qingfeng; Kijlstra, Aize; Yang, Peizeng

    2015-11-01

    Previous studies have identified that disturbed apoptosis was involved in the pathogenesis of Behçet disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome. This study aims to investigate whether copy number variations of apoptosis-related genes, including FAS, CASPASE8, CASPASE3, and BCL2, are associated with BD and VKH syndrome in Han Chinese. A two-stage association study was performed in 1,014 BD patients, 1,051 VKH syndrome patients, and 2,076 healthy controls. TaqMan(®) Copy Number Assays and real-time PCR were performed. The first-stage study showed that increased frequency of high FAS copy number (>2) was found in BD (P = 1.05 × 10(-3) ) and VKH syndrome (P = 2.56 × 10(-3) ). Replication and combined study confirmed the association of high copy number (>2) of FAS with BD (P = 3.35 × 10(-8) ) and VKH syndrome (P = 9.77 × 10(-8) ). A significant upregulated mRNA expression of FAS was observed in anti-CD3/CD28 antibodies-stimulated CD4(+) T cells from individuals carrying a high gene copy number (>2) as compared to normal diploid 2 copy number carriers (P = 0.004). Moreover, the mRNA expression of FAS both in active patients with BD and VKH syndrome was significantly higher than that in controls (P = 0.001 and P = 0.007, respectively). Our findings suggest that a high copy number of FAS gene confers risk for BD and VKH syndrome.

  3. Correlation of IL-27 genetic polymorphisms with the risk and survival of cervical cancer in a Chinese Han population.

    PubMed

    Shi, Jian; Yuan, Meng; Liu, Shuang; Duan, Xiaoyang; Chen, Juan

    2016-05-01

    Interleukin-27 (IL-27) has been recognized as a pleiotropic cytokine with both pro- and anti-inflammatory properties. However, there are no data about the role of IL-27 polymorphism in the development of cervical cancer. A hospital-based case-control study was conducted in 380 patients with cervical cancer and 380 healthy controls to investigate the possible associations of IL-27 gene polymorphisms (-964A/G, 2905T/G, and 4730T/C), with susceptibility to cervical cancer and clinical outcome. Our results suggested that the IL-27 2905T/G was significantly associated with a decreased risk of cervical cancer (TG vs. TT, odds ratio (OR) = 0.77; 95 % confidence interval (CI) = 0.60-0.86; GG vs. TT, OR = 0.95; 95 % CI = 0.72-0.96; TG+GG vs. TT, OR = 0.87; 95 % CI = 0.65-0.94). However, the genotype and allele frequencies of IL-27 (-964A/G and 4730T/C) polymorphisms in cervical cancer patients were not significantly different from controls. Further analysis showed IL-27 2905T/G genotypes were associated with advanced tumor stages of cervical cancer patients. More interestingly, the IL-27 2905T/G genotypes were statistically significantly associated with the survival in cervical cancer patients. Our results showed that the IL-27 2905T/G genotypes were associated with decreased susceptibility and development of cervical cancer in Chinese Han population.

  4. Multiplex assay development and mutation rate analysis for 13 RM Y-STRs in Chinese Han population.

    PubMed

    Zhang, Wenqiong; Xiao, Chao; Yu, Jin; Wei, Tian; Liao, Fei; Wei, Wei; Huang, Daixin

    2017-03-01

    In this study, a novel multiplex polymerase chain reaction (PCR) assay was developed for amplifying the newly introduced 13 rapidly mutating Y-STR markers (RM Y-STRs) including DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526b, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627. In addition, a survey for mutation rates of the 13 RM Y-STRs in Chinese Han population was performed to make sure of the mutation characteristic and application in Chinese group. With 14,476 allele transfers in 1034 father-son pairs, 221 mutation events occurred, of which 215 were one-step mutations and 6 were two-step mutations. Nineteen father-son pairs were found to have mutations at two loci and one pair at three loci. Based upon our research data, 18.96 % of all 1034 father-son pairs were successfully differentiated, and the estimated locus-specific mutation rates varied from 4.84 × 10(-3) to 6.29 × 10(-2), with an average estimated mutation rate 1.53 × 10(-2) (95 % CI 1.33 × 10(-2) to 1.74 × 10(-2)). Among the 13 Y-STR markers, eight loci (DYF399S1, DYF403S1a, DYF404S1, DYS449, DYS518, DYS547, DYS576, and DYS612) had mutation rates higher than 1.00 × 10(-2), and the rest loci lower than 1.00 × 10(-2) in Chinese samples.

  5. A pharmacogenetic study of risperidone on histamine H3 receptor gene (HRH3) in Chinese Han schizophrenia patients.

    PubMed

    Wei, Zhiyun; Wang, Lei; Zhang, Mengmeng; Xuan, Jiekun; Wang, Yang; Liu, Baocheng; Shao, Liyan; Li, Jun; Zeng, Zhen; Li, Tao; Liu, Jie; Wang, Ti; Zhang, Ming; Qin, Shengying; Xu, Yifeng; Feng, Guoyin; He, Lin; Xing, Qinghe

    2012-06-01

    Evidence suggests that the human histamine H3 receptor (HRH3) may be involved in the pharmacodynamics of risperidone and influence clinical efficacy. More information on the pharmacogenetics of this receptor may therefore be useful in developing individualized therapy. However, to our knowledge, no study has been reported in this area. The aim of this investigation was to clarify whether H3 receptor polymorphism could affect risperidone efficacy. We genotyped tag single nucleotide polymorphisms (SNPs) of the HRH3 gene (rs3787429 and rs3787430) and analyzed their association with the reduction of Brief Psychiatric Rating Scale (BPRS) score in Chinese Han schizophrenia patients (N = 129), following an eight-week period of risperidone monotherapy. The confounding effects of non-genetic factors were estimated, and then the significant one was included as the covariate for adjustment in statistical analysis. Baseline symptom score was the only significant confounding effect and thus the covariate. After adjustment, significant association of HRH3 with antipsychotic efficacy was detected (for rs3787429, p = 0.013, 0.087 after 4 weeks and 8 weeks of treatment, respectively; for rs3787430, p = 0.024, 0.010 after 4 weeks and 8 weeks of treatment, respectively) and stood up to conservative Bonferroni correction. Our results demonstrate that polymorphism of the HRH3 gene may be a potential genetic marker for predicting the therapeutic effect of risperidone, and suggest novel pharmacological links between HRH3 and risperidone. Further studies with larger samples and different ethnic populations are warranted to confirm our results.

  6. Polymorphisms in TCF7L2 gene are associated with gestational diabetes mellitus in Chinese Han population.

    PubMed

    Ye, Dan; Fei, Yang; Ling, Qi; Xu, Weiwei; Zhang, Zhe; Shu, Jing; Li, Chengjiang; Dong, Fengqin

    2016-07-28

    This study aimed to investigate the possible association between diabetes susceptibility gene transcription factor 7-like 2 (TCF7L2) and gestational diabetes mellitus (GDM) in a Chinese Han population. A total of 556 GDM patients and 500 Non-GDM were included. Eighteen single nucleotide polymorphisms (SNPs) were evaluated. Fifteen tag SNPs were selected from HapMap CHB database with a minor allele frequency of >0.2 and r(2) of >0.8. Three additional SNPs were also chosen because these SNPs are associated with type 2 diabetes in East Asians. TCF7L2 rs290487, rs6585194, and rs7094463 polymorphisms were found to be significantly associated with GDM. In multivariate analysis, rs290487 genetic variation (OR = 2.686 per each C allele, P = 0.002), pre-BMI > 24 kg/m(2) (OR = 1.592, P = 0.018), age > 25 years (OR = 1.780, P = 0.012) and LDL-C > 3.6 mmol/L (OR = 2.034, P = 0.009) were identified as independent risk factors of GDM, rs7094463 genetic variation (OR = 0.429 per each G allele, P = 0.005) was identified as independent protect factor of GDM. This finding suggests that TCF7L2 rs290487, and rs7094463 were a potential clinical value for the prediction of GDM.

  7. The contributions of Hans-Dieter Rösler: pioneer of digit ratio (2D:4D) research.

    PubMed

    Voracek, Martin; Dressler, Stefan G; Loibl, Lisa Mariella

    2008-12-01

    Over the past decade, the second-to-fourth digit ratio (2D:4D), a putative biomarker for the organizational (permanent) effects of prenatal androgens on the human brain, body, and behavior, has received extensive research attention in psychology. This account makes more widely accessible the contributions of the German psychologist, Hans-Dieter Rösler, an early, for a long time unnoticed, predecessor of modern 2D:4D research. In the mid-1950s, Rösler collected a massive sample of hand outline drawings, totalling nearly 7,000 individuals, ranging in age from 1 mo. to 70 yr. With regard to the distal finger-extent pattern, Rösler differentiated radial (longer index than ring finger), ulnar (reversed pattern), and intermediate hand types, which reflect higher (more female-typical), lower (more male-typical), and intermediate 2D:4D, respectively. Here is summarized Rösler's research. In a series of investigations into the hand types, he reported on their anatomical bases, unsuitability for paternity testing, developmental changes, heritability, sex, side, and occupational group differences, and associations with left-handedness, manual dexterity, mental retardation, and clinodactyly. Based on new data from 313 male and 316 female adults, hand type is further shown to be only a weak proxy of actual 2D:4D, leaving 75% of the interindividual variation in 2D:4D unexplained. Notwithstanding these shortcomings of the hand-type method, Rösler's work from the 1950s still has the potential to inform modern 2D:4D research, as it contains a multitude of testable hypotheses not yet picked up by current research.

  8. Association analysis revealed one susceptibility locus for vitiligo with immune-related diseases in the Chinese Han population.

    PubMed

    Li, Shu; Yao, Weiyi; Pan, Qian; Tang, Xianfa; Zhao, Suli; Wang, Wenjun; Zhu, Zhengwei; Gao, Jinping; Sheng, Yujun; Zhou, Fusheng; Zheng, Xiaodong; Zuo, Xianbo; Sun, Liangdan; Zhang, Anping

    2015-07-01

    Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other immune-related diseases. However, there is no reported study on the associations between immune susceptibility polymorphisms and the risk of vitiligo with immune-related diseases. The aim of this study was to evaluate the potential influence of 10 single-nucleotide polymorphisms (SNPs) at 18q21.31 (rs10503019), 4p16.1 (rs11940117), 3q28 (rs1464510), 14q12 (rs2273844), 12q13.2 (rs2456973), 16q12.2 (rs3213758), 10q25.3 (rs4353229), 3q13.33 (rs59374417), and 10p15.1 (rs706779 and rs7090530) on vitiligo with immune-related diseases in the Chinese Han population. All SNPs were genotyped in 552 patients with vitiligo-associated immune-related diseases and 1656 controls using the Sequenom MassArray system. Data were analyzed with PLINK 1.07 software. The C allele of rs2456973 at 12q13.2 was observed to be significantly associated with vitiligo-associated immune-related diseases (autoimmune diseases and allergic diseases) (P = 0.0028, odds ratio (OR) = 1.27). In subphenotype analysis, the rs2456973 C allele was also significantly associated with early-onset vitiligo by comparing with controls (P = 0.0001) and in the case-only analysis (P = 0.0114). We confirmed that 12q13.2 was an important candidate locus for vitiligo with immune-related diseases (autoimmune diseases and allergic diseases) and affected disease phenotypes with early onset.

  9. Muscle-specific changes in length-force characteristics of the calf muscles in the spastic Han-Wistar rat.

    PubMed

    Olesen, Annesofie T; Jensen, Bente R; Uhlendorf, Toni L; Cohen, Randy W; Baan, Guus C; Maas, Huub

    2014-11-01

    The purpose of the present study was to investigate muscle mechanical properties and mechanical interaction between muscles in the lower hindlimb of the spastic mutant rat. Length-force characteristics of gastrocnemius (GA), soleus (SO), and plantaris (PL) were assessed in anesthetized spastic and normally developed Han-Wistar rats. In addition, the extent of epimuscular myofascial force transmission between synergistic GA, SO, and PL, as well as between the calf muscles and antagonistic tibialis anterior (TA), was investigated. Active length-force curves of spastic GA and PL were narrower with a reduced maximal active force. In contrast, active length-force characteristics of spastic SO were similar to those of controls. In reference position (90° ankle and knee angle), higher resistance to ankle dorsiflexion and increased passive stiffness was found for the spastic calf muscle group. At optimum length, passive stiffness and passive force of spastic GA were decreased, whereas those of spastic SO were increased. No mechanical interaction between the calf muscles and TA was found. As GA was lengthened, force from SO and PL declined despite a constant muscle-tendon unit length of SO and PL. However, the extent of this interaction was not different in spastic rats. In conclusion, the effects of spasticity on length-force characteristics were muscle specific. The changes observed for GA and PL muscles are consistent with the changes in limb mechanics reported for human patients. Our results indicate that altered mechanics in spastic rats cannot be attributed to differences in mechanical interaction, but originate from individual muscular structures.

  10. Considering Hans-Georg Gadamer's philosophical hermeneutics as a referent for student understanding of nature-of-science concepts

    NASA Astrophysics Data System (ADS)

    Rashford, Jared M.

    The purpose of this study is to examine philosophical hermeneutics as a referent for student understanding of Nature-of-Science (NOS) concepts. Rather than focus on a prescriptive set of canons used in addressing NOS pedagogy in K-12 schools, this study seeks to explicate a descriptive set of principles based on Hans-Georg Gadamer's theory of interpretation that has the potential for developing dispositions necessary for understanding. Central among these are the concepts of fore-structure, prejudice, temporal distance, and history of effect, all of which constitute part of the whole of the hermeneutic circle as envisaged by Gadamer. As such, Gadamer's hermeneutics is contrasted with Cartesian epistemology and its primacy of method, the Enlightenment's prejudice against prejudice, the modernist/progressive tendency to consider all situations as problems to be solved by relegating all forms of knowledge to techne, and the subjective nature of interpretation inherent in a hermeneutics of suspicion. The implication of such a conceptual analysis for NOS pedagogy is that student understanding is considered not so much as a cognitive outcome dependent on a series of mental functions but rather as an ontological characteristic of Dasein (being-human) that situates learning in the interchange between interpreter and text. In addition, the philosophical foundations implicit in addressing student understanding of NOS found in many curricular reform efforts and pedagogical practices in science education are questioned. Gadamer's hermeneutics affords science education a viable philosophical framework within which to consider student understanding of the development of scientific knowledge and the scientific enterprise.

  11. Association of SCN10A Polymorphisms with the Recurrence of Atrial Fibrillation after Catheter Ablation in a Chinese Han Population.

    PubMed

    Wu, Haiqing; Xu, Juan; Chen, Songwen; Zhou, Genqing; Qi, Baozhen; Wei, Yong; Hu, En; Tang, Dongdong; Chen, Gang; Li, Hongli; Zhao, Liqun; Shi, Yongyong; Liu, Shaowen

    2017-03-10

    The nonsynonymous SCN10A single nucleotide polymorphism (SNP) rs6795970 has been reported to associate with PR interval and atrial fibrillation (AF) and in strong linkage disequilibrium (LD) with the AF-associated SNP rs6800541. In this study, we investigated whether rs6795970 polymorphisms are associated with AF recurrence after catheter ablation. A total of 502 consecutive patients with AF who underwent catheter ablation were included. AF recurrence was defined as a documented episode of any atrial arrhythmias lasting ≥30 s after a blanking period of 3 months. AF recurrence was observed between 3 and 12 months after catheter ablation in 24.5% of the patients. There was a significant difference in the allele distribution (p = 7.86 × 10(-5)) and genotype distribution (p = 1.42 × 10(-5)) of rs6795970 between the AF recurrence and no recurrence groups. In a multivariate analysis, we identified the following independent predictors of AF recurrence: the rs6795970 genotypes in an additive model (OR 0.36, 95%CI 0.22~0.60, p = 7.04 × 10(-5)), a history of AF ≥36 months (OR 3.57, 95%CI 2.26~5.63, p = 4.33 × 10(-8)) and left atrial diameter (LAD) ≥40 mm (OR 1.85, 95%CI 1.08~3.19, p = 0.026). These data suggest that genetic variation in SCN10A may play an important role in predicting AF recurrence after catheter ablation in the Chinese Han population.

  12. Associations between serum hepcidin, ferritin and Hb concentrations and type 2 diabetes risks in a Han Chinese population.

    PubMed

    Guo, Xin; Zhou, Daizhan; An, Peng; Wu, Qian; Wang, Hao; Wu, Aimin; Mu, Mingdao; Zhang, Di; Zhang, Zhou; Wang, Hui; He, Lin; Liu, Yun; Wang, Fudi

    2013-12-01

    Systemic Fe overload can contribute to abnormal glucose metabolism and the onset of type 2 diabetes (T2D). Although hepcidin is the master regulator of systemic Fe homeostasis, few studies have systematically evaluated the associations of serum hepcidin concentrations with Fe metabolism parameters and risks for the development of T2D. In this regard, whether hepcidin concentrations are associated with T2D remains controversial. We measured serum hepcidin and ferritin concentrations in a case-control study of 1259 Han Chinese participants to evaluate the possible associations of serum hepcidin concentrations with Fe metabolism parameters and risks of T2D. Individuals with diabetes (n 555) and control participants (n 704) were recruited and serum hepcidin and ferritin concentrations were quantified. Additionally, selected biochemical and anthropometric variables were determined. A logistic regression analysis was performed to evaluate the association of serum hepcidin and ferritin concentrations with T2D. A linear regression analysis was used to test for associations between serum hepcidin and ferritin concentrations and a number of clinical, demographic and diabetes-associated variables. We found that serum hepcidin concentrations correlated with Hb and serum ferritin concentrations. No differences in hepcidin concentrations were found between the group with diabetes and the control group. Hepcidin concentrations were not significantly correlated with T2D risk factors. We also found that serum ferritin concentrations were elevated in individuals with diabetes and were positively correlated with both Hb concentrations and T2D risk factors. The present findings suggest that serum ferritin concentrations correlate with T2D risk factors, while serum hepcidin concentrations are positively associated with Hb and serum ferritin concentrations, but do not correlate with T2D.

  13. Developed and evaluated a multiplex mRNA profiling system for body fluid identification in Chinese Han population.

    PubMed

    Song, Feng; Luo, Haibo; Hou, Yiping

    2015-10-01

    In forensic casework, identification the cellular origin from a biological sample is crucial to the case investigation and reconstruction in crime scene. DNA/RNA co-extraction for STR typing and human body fluids identification has been proposed as an efficient and comprehensive assay for forensic analysis. Several cell-specific messenger RNA (mRNA) markers for identification of the body fluids have been proposed by previous studies. In this study, a novel multiplex mRNA profiling system included 19 markers was developed and performed by reverse transcription endpoint polymerase chain reaction (RT-PCR). The multiplex combined 3 housekeeping gene markers and 16 cell-specific markers that have been used to identify five types of human body fluids: peripheral blood, semen, saliva, vaginal secretions and menstrual blood. The specificity, sensitivity, stability and detectability of the mixture were explored in our study. Majority of the cell-specific mRNA markers showed high specificity, although cross-reactivity was observed sporadically. Specific profiling for per body fluid was obtained. Moreover, the interpretation guidelines for inference of body fluid types were performed according to the A. Lindenbergh et al. The scoring guidelines can be applied to any RNA multiplex, which was based on six different scoring categories (observed, observed and fits, sporadically observed and fits, not observed, sporadically observed, not reliable, and non-specific due to high input). The simultaneous extraction of DNA showed positive full or partial profiling results of all samples. It demonstrated that the approach of combined STR-profiling and RNA profiling was suitable and reliable to detect the donor and origin of human body fluids in Chinese Han population.

  14. Lack of association between HLA-G 14-bp polymorphism and systemic lupus erythematosus in a Han Chinese population.

    PubMed

    Wu, F-X; Wu, L-J; Luo, X-Y; Tang, Z; Yang, M-H; Xie, C-M; Liu, N-T; Zhou, J-G; Guan, J-L; Yuan, G-H

    2009-12-01

    HLA-G is a non-classical HLA-class Ib molecule with multiple immunoregulatory properties. A 14-bp insertion/deletion polymorphism in the HLA-G gene has been suggested to influence the expression of HLA-G and to associate with certain pathological conditions, including autoimmune diseases. We investigated the influence of the 14-bp insertion/deletion polymorphism in the HLA-G gene on disease susceptibility in systemic lupus erythematosus by genotyping this polymorphism in 231 patients with systemic lupus erythematosus and 367 healthy controls and analyzing the levels of soluble HLA-G in a subset of patients with systemic lupus erythematosus and healthy subjects from a Han Chinese population. No statistically significant differences were observed in the frequencies of the 14-bp insertion/deletion HLA-G alleles or genotypes between controls and patients with systemic lupus erythematosus. However, a significant increased expression of soluble HLA-G was noted in patients with systemic lupus erythematosus (mean value = 230.2 U/ml vs 118.3 U/ml in controls, p = 0.0001). Moreover, patients with high levels of soluble HLA-G presented with higher disease activity and had more neurological involvement. Our results do not support the HLA-G 14-bp insertion/deletion polymorphism as a genetic factor influencing systemic lupus erythematosus susceptibility. It is possible that the expression of soluble HLA-G in systemic lupus erythematosus is enhanced as part of a mechanism to try to restore the tolerance process towards auto-antigens and to counteract inflammation. However, the participation of this molecule in the pathological process of the disease also could not be excluded.

  15. A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.

    PubMed

    Li, Huaixing; Gan, Wei; Lu, Ling; Dong, Xiao; Han, Xueyao; Hu, Cheng; Yang, Zhen; Sun, Liang; Bao, Wei; Li, Pengtao; He, Meian; Sun, Liangdan; Wang, Yiqin; Zhu, Jingwen; Ning, Qianqian; Tang, Yong; Zhang, Rong; Wen, Jie; Wang, Di; Zhu, Xilin; Guo, Kunquan; Zuo, Xianbo; Guo, Xiaohui; Yang, Handong; Zhou, Xianghai; Zhang, Xuejun; Qi, Lu; Loos, Ruth J F; Hu, Frank B; Wu, Tangchun; Liu, Ying; Liu, Liegang; Yang, Ze; Hu, Renming; Jia, Weiping; Ji, Linong; Li, Yixue; Lin, Xu

    2013-01-01

    Substantial progress has been made in identification of type 2 diabetes (T2D) risk loci in the past few years, but our understanding of the genetic basis of T2D in ethnically diverse populations remains limited. We performed a genome-wide association study and a replication study in Chinese Hans comprising 8,569 T2D case subjects and 8,923 control subjects in total, from which 10 single nucleotide polymorphisms were selected for further follow-up in a de novo replication sample of 3,410 T2D case and 3,412 control subjects and an in silico replication sample of 6,952 T2D case and 11,865 control subjects. Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DUSP9) at genome-wide significance, we identified two novel T2D loci, including G-protein-coupled receptor kinase 5 (GRK5) (rs10886471: P = 7.1 × 10(-9)) and RASGRP1 (rs7403531: P = 3.9 × 10(-9)), of which the association signal at GRK5 seems to be specific to East Asians. In nondiabetic individuals, the T2D risk-increasing allele of RASGRP1-rs7403531 was also associated with higher HbA(1c) and lower homeostasis model assessment of β-cell function (P = 0.03 and 0.0209, respectively), whereas the T2D risk-increasing allele of GRK5-rs10886471 was also associated with higher fasting insulin (P = 0.0169) but not with fasting glucose. Our findings not only provide new insights into the pathophysiology of T2D, but may also shed light on the ethnic differences in T2D susceptibility.

  16. Genetic variation in the ABCG2 gene is associated with gout risk in the Chinese Han population.

    PubMed

    Jiri, Mutu; Zhang, Le; Lan, Bing; He, Na; Feng, Tian; Liu, Kai; Jin, Tianbo; Kang, Longli

    2016-01-01

    Gout is a common type of arthritis that is characterized by hyperuricemia, tophi, and joint inflammation. Current evidence suggests that heredity contributes to the progression of gout. Previous studies have shown that regulation of the ATP-binding cassette subfamily G member 2 (ABCG2) pathways plays a role in gout occurrence. To investigate and validate potential genetic associations with the risk of gout, we conducted a case-control study. We conducted 143 cases and 310 controls and genotyped seven single-nucleotide polymorphisms (SNPs) in ABCG2 gene. ABCG2 SNP association analyses were performed using SPSS 17.0 Statistical Package, PLINK Software, HaploView software package, and SHEsis software platform. We identified that four susceptibility SNPs were potentially associated with occurrence of gout. Rs2622621 and rs3114018 in ABCG2 can actually increase the risk of gout in log-additive model (rs2622621, odds ratio (OR) = 1.90, 95% confidence interval (CI) 1.39-2.61, p < 0.001; rs3114018, OR = 1.55, 95% CI 1.13-2.13, p = 0.006). We found that rs17731799G/T-G/G and rs3114020 T/C-T/T in ABCG2 can actually increase the risk of gout in dominant model (rs17731799, OR = 1.67, 95% CI 1.05-2.66, p = 0.028; rs3114020, OR = 1.58, 95% CI 1.00-2.51, p = 0.048). The ABCG2 haplotype "GGCTCTC" (OR = 0.46, 95% CI 0.28-0.75, p = 0.0019) decreased the gout risk. Our results, combined with those from previous studies, suggest that genetic variation in ABCG2 may influence gout susceptibility in the Han population.

  17. Cyclooxygenase product inhibition with acetylsalicylic acid slows disease progression in the Han:SPRD-Cy rat model of polycystic kidney disease.

    PubMed

    Ibrahim, Naser H M; Gregoire, Melanie; Devassy, Jessay G; Wu, Yinhong; Yoshihara, Daisuke; Yamaguchi, Tamio; Nagao, Shizuko; Aukema, Harold M

    2015-01-01

    Renal cyclooxygenase (COX) derived eicosanoids are elevated and lipoxygenase (LOX) products are reduced in the Han:SPRD-Cy rat model of polycystic kidney disease (PKD). Selective COX2 inhibition reduces kidney disease progression, but COX1 levels also are elevated in this model. Since the effect of reducing the products of both COX isoforms and the role of LOX products is not known, weanling normal and diseased Han:SPRD-cy littermates were given either low dose acetylsalicylic acid (ASA), nordihydroguaiaretic (NDGA) or no treatment for eight weeks. Renal eicosanoids were altered in the diseased compared to normal cortex, with COX products being higher and LOX products being lower. ASA reduced COX products, cyst growth and kidney water content, while NDGA reduced LOX products without altering disease progression or kidney function. Hence, a human equivalent ASA dose equal to less than one regular strength aspirin per day slowed disease progression, while further reduction of LOX products did not worsen disease progression.

  18. Effect of runoff discharge on the environmental levels of 13 veterinary antibiotics: A case study of Han River and Kyungahn Stream, South Korea.

    PubMed

    Kim, Younghee; Lee, Kee-Bong; Choi, Kyungho

    2016-06-15

    In this study, the effect of heavy monsoon rains on the environmental levels of 13 veterinary pharmaceuticals was investigated. Kyungahn Stream has an annual average flow rate (AVF) of 4.2m(3)/s and receives runoffs from agricultural areas and livestock farms scattered in the upper stream area, and Han River has an AVF of 845m(3)/s with four sewage treatment plants with individual capacities of >1millionm(3)/day. Grab samples collected in three different rain seasons, before, during, and after rain, were analyzed. Kyungahn Stream and Han River showed completely different patterns of environmental levels of pharmaceuticals: the former had higher detection rates and concentrations of the pharmaceuticals during and after rainy season, implying direct influence by rainfalls, whereas in the latter, higher detection rates were observed before rain (1236ng/L of oxytetracycline (OTC), 2093ng/L of tetracycline (TC), and 793ng/L of chlorotetracycline (ChTC) as the highest values).

  19. Polymorphisms in the DLG3 gene is not associated with non-syndromic mental retardation in the Chinese Han population of Qin-Ba mountain.

    PubMed

    Han, Ning; Shi, Zhangyan; Zhang, Kejin; Gao, Xiaocai; Zheng, Zijian; Gong, Pingyuan; Guo, Yale; Huang, Shaoping; Zhang, Fuchang

    2011-07-01

    Discs-large-related 3 (DLG3), a member of the membrane-associated guanylate kinases (MAGUKs) protein family, playing an important role in regulating NMDA signal pathway and contributing to synaptic plasticity, may have an influence on the susceptibility of non-syndromic mental retardation (NSMR). To investigate the possible genetic contribution of DLG3 gene to the NSMR of Chinese Han population, we performed an association study of 556 subjects (118 NSMR, 116 borderline NSMR, and 322 controls in 275 males and 281 females) from Qin-Ba mountain region of Shaanxi province in the northwest of China by five common SNPs in the gene. The results showed that there was no positive association between the genetic variations of DLG3 and NSMR. In conclusion, the results of this study indicated that DLG3 did not associate with NSMR in Chinese Han population; however, further studies are needed.

  20. Smoking and Alzheimer's disease among Mongolian and Han Chinese aged 55 years and over living in the Inner Mongolia farming area of China.

    PubMed

    Zhang, Chunyu; Da, Lin; Zhao, Shigang; Wang, Desheng; Niu, Guangming; Huriletemuer

    2012-07-15

    Residents aged 55 years or older from 27 communities and two settlements in Xilingol League of Inner Mongolia were selected for participation in an Alzheimer's disease epidemiological investigation from June 2008 to June 2009, including 3 259 Mongolians and 5 887 Han Chinese. The Mongolian subjects in the Alzheimer's disease group were at age of 55 years or older (on average), and more of them were male, illiterate and/or had a history of coronary artery disease and/or diabetes compared with the Mongolian subjects in the non-Alzheimer's disease group. The Han Chinese subjects in the Alzheimer's disease group were at age of 55 years or older (on average) and more of them were women, illiterate and/or had a history of coronary artery disease, and less of them had a history of alcohol consumption compared with the non-Alzheimer's disease group. Non-conditional multivariate stepwise logistic regression identified that male gender, increasing age and having a history of diabetes and/or coronary heart disease were associated with higher odds of Alzheimer's disease among Mongolians while having an educational background was associated with lower odds (OR = 0.259, 95%CI 0.174-0.386). Among the Han Chinese subjects, male gender, increasing age and having a history of coronary heart disease and/or hypertension was associated with higher odds of Alzheimer's disease, while having an educational background was associated lower odds (OR = 0.271, 95%CI 0.192-0.381). The results also indicated that extremely heavy smoking may be a risk factor for Alzheimer's disease in Mongolian males aged over 55 years. There was no significant difference in smoking habits between the Mongolian and Han Chinese subjects with Alzheimer's disease.

  1. Annotation of Hans Bethe's paper, Zeitschrift für Physik 76, 293 (1932), "Braking Formula for Electrons of Relativistic Speed"

    NASA Astrophysics Data System (ADS)

    Fontes, Christopher J.; Bostock, Christopher J.; Bartschat, Klaus

    2014-12-01

    We present an annotation of Hans Bethe's "Bremsformel für Elektronen relativistischer Geschwindigkeit" [Zeitschrift für Physik 76, 293 (1932)] (Braking Formula for Electrons of Relativistic Speed). The English translation of the paper appears as a companion to this annotation. We highlight the conceptual and historical aspects of the relevant quantum electrodynamics employed by Bethe, provide details in the derivation of several equations, and point out some typographical errors in the original manuscript.

  2. Study for collecting background data on Wistar Hannover [Crl:WI(Han)] rats in embryo-fetal development studies--comparative data to Sprague Dawley rats.

    PubMed

    Noritake, Ken-ichi; Ikeda, Takashi; Ito, Keiichi; Miwa, Yoji; Senuma, Mika; Takashima, Hiromasa; Tateishi, Taishi; Hisada, Shigeru; Maki, Eiji

    2013-01-01

    The purpose of the present study was to collect the background data on Wistar Hannover [Crl:WI(Han)] (hereafter Wistar Han) rats in embryo-fetal development studies from the 6 safety research facilities of pharmaceutical companies and contract research organizations. In each facility, 20 or 22 female rats were dosed with vehicle solution during the organogenesis period. As a result, no abnormalities in clinical signs and necropsy findings in dams were found. Body weights and food consumption in dams were lower than those in Sprague Dawley (SD) rats. The number of corpora lutea (13.3 vs. 16.0 in SD) and implantations (11.8 vs. 14.7) were fewer, and fetal body weights (3.66 vs. 3.70) and placental weights (0.42 vs. 0.45) tended to be lower than those in SD rats. Regarding the fetal abnormalities, the incidence of several findings such as the persistent left umbilical artery (10.4% vs. 1.1%) and cervical (5.2% vs. 0.4%), full (7.4% vs. 0.9%) or short supernumerary (64.5% vs. 9.9%) and wavy ribs (6.6% vs. 0.3%) was higher than that in SD rats. Our present study showed that they maintained a sufficient number of live fetuses and the difference in the fetal sex ratio was not observed. In conclusion, Wistar Han rats were considered to be a suitable strain for embryo-fetal development toxicity study. Since the incidence of several abnormalities was higher than that in SD rats, it may be said that to accumulate background control data is important to evaluate the embryo-fetal development toxicity study using Wistar Han rats.

  3. Analysis of interleukin-8 gene variants reveals their relative importance as genetic susceptibility factors for chronic periodontitis in the Han population.

    PubMed

    Zhang, Nan; Xu, Yuehong; Zhang, Bo; Zhang, Tianxiao; Yang, Haojie; Zhang, Bao; Feng, Zufei; Zhong, Dexing

    2014-01-01

    Interleukin (IL)-8, an important chemokine that regulates the inflammatory response, plays an important role in periodontitis. Previous studies indicate that certain IL-8 gene polymorphisms are associated with periodontitis susceptibility in some populations. However, the literature is somewhat contradictory, and not all IL-8 polymorphisms have been examined, particularly in Han Chinese individuals. The aim of this study was to investigate the association of every IL-8 SNP with chronic periodontitis in Han Chinese individuals. We analyzed 23 SNPs with minor allele frequency (MAF)≥0.01, which were selected from 219 SNPs in the NCBI dbSNP and preliminary HapMap data analyses from a cohort of 400 cases and 750 controls from genetically independent Han Chinese individuals. Single SNP, haplotype and gender-specific associations were performed. We found that rs4073 and rs2227307 were significantly associated with chronic periodontitis. Further haplotype analysis indicated that a haplotype block (rs4073-rs2227307-rs2227306) that spans the promoter and exon1 of IL-8 was highly associated with chronic periodontitis. Additionally, the ATC haplotype in this block was increased 1.5-fold in these cases. However, when analyzing the samples by gender, no significant gender-specific associations in IL-8 were observed, similar to the results of haplotype association analyses in female and male subgroups. Our results provide further evidence that IL-8 is associated with chronic periodontitis in Han Chinese individuals. Furthermore, our results confirm previous reports suggesting the intriguing possibilities that IL-8 plays a role in the pathogenesis of chronic periodontitis and that this gene may be involved in the etiology of this condition.

  4. [Hans Kurella's 'Naturgeschichte des Verbrechers' [Natural history of the criminal], 1893, as an apology of Cesare Lombroso's doctrine of 'Uomo delinquente'].

    PubMed

    Gutmann, Philipp

    2005-01-01

    At the end of the 19th century Cesare Lombroso and his theory of the 'delinquente nato' had great influence on a lot of scientists in the German speaking world. One of the psychiatrists who published several books and articles about Lombroso's theory was Hans Kurella. In his 'Naturgeschichte des Verbrechers' (1893) he elaborates the thesis of the 'delinquente nato' agreeing with its central point that the criminal.

  5. ABO blood types associated with the risk of venous thromboembolism in Han Chinese people: A hospital-based study of 200,000 patients.

    PubMed

    Sun, Xuefeng; Feng, Jun; Wu, Wei; Peng, Min; Shi, Juhong

    2017-03-06

    ABO blood types are putatively associated with the risk of venous thromboembolism (VTE), but it is not proved in Chinese people. A large population of Han Chinese patients discharged from Peking Union Medical College Hospital between January 2010 and June 2016 were retrospectively analyzed in a case-control study. A total of 1412 VTE patients were identified from 200,660 discharged Han Chinese patients, including 600 patients with deep vein thrombosis (DVT), 441 patients with pulmonary embolism, and 371 patients with both DVT and pulmonary embolism. The prevalence of non-O blood type was weakly but statistically higher in VTE patients compared with 199,248 non-VTE patients, with an odds ratio (OR) of 1.362 (95% confidence interval [CI], 1.205-1.540). Subgroup analysis showed that the OR for non-O blood type was still increased. It was greater in pre-hospital VTE (OR = 1.464) than that in hospital-acquired VTE (OR = 1.224), and greater in unprovoked VTE (OR = 1.859) than that in provoked VTE (OR = 1.227). The OR for non-O blood type decreased with age in subgroup analysis. These results suggest a weak but statistically significant correlation between non-O blood type and risk of VTE in Han Chinese people.

  6. Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population

    PubMed Central

    Song, Hongquan; Wang, Xiaotong; Yan, Jiaqun; Mi, Na; Jiao, Xiaohui; Hao, Yanru; Zhang, Wei; Gao, Yuwei

    2017-01-01

    Abstract Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation among live births, and depends on race and ethnic background. The CDH1 gene plays a vital role in orofacial development. Our research was conducted to examine the association between 3 single-nucleotide polymorphisms in the CDH1 gene and NSCL/P. Methods: Three single-nucleotide polymorphisms (rs16260, rs9929218, and rs1801552) of the CDH1 gene were genotyped using the Snapshot mini-sequencing technique in 331 patients with NSCL/P and 271 controls from the northern Chinese Han population. Results: The investigation indicated that presence of the CDH1 rs1801552 TT genotype under the assumption of a recessive model is related to the decreased risk for NSCL/P (odds ratio 0.53, 95% confidence interval 0.34–0.81, P = 0.003). The results were still significant after the Bonferroni correction for multiple comparisons. However, nonsignificant differences in rs16260 and rs9929218 were found between cases and controls. Conclusion: Our study demonstrates that the CDH1 polymorphisms were significantly associated with the risk of NSCL/P in the northern Chinese Han population. We provide further evidence regarding the role of CDH1 variations in the development of NSCL/P in a northern Chinese Han population. PMID:28151848

  7. No association of SLC6A3 and SLC6A4 gene polymorphisms with schizophrenia in the Han Chinese population.

    PubMed

    Yang, Beimeng; Huang, Xiaoye; Ruan, Liemin; Yu, Tao; Li, Xin; Jesse, Forrest Fabian; Cao, Yanfei; Li, Xingwang; Liu, Baocheng; Yang, Fengping; Lee, Yong-Seok; He, Lin; Li, Weidong; He, Guang

    2014-09-05

    The SLC6A3 and SLC6A4 genes are members of a class of neurotransmitter transporters for the release, re-uptake and recycling of neurotransmitters in synapses. SLC6A3 and SLC6A4 encode a dopamine transporter and serotonin transporter, respectively. Abnormal expression and genetic polymorphism of SLC6A3 and SLC6A4 genes may increase the risk of developing mental illness, such as schizophrenia, bipolar disorder, ADHD, and aggressive behavior in Alzheimer disease, etc. Nevertheless, association between SLC6A3, SLC6A4 genes polymorphism and schizophrenia patients have not been well studied in Han Chinese people. In this study, we examined whether single nucleotide polymorphisms (SNPs) in SLC6A3, SLC6A4 were associated with schizophrenia in Han Chinese people (893 schizophrenia patients and 611 healthy controls). No significant difference in allelic or genotypic frequency was found between schizophrenia patients and healthy controls. No positive linkage disequilibrium (LD) was detected either. No haplotypic distributions were positive. Accordingly, our study suggests that the 10 SNPs within both genes we examined do not play a major role in schizophrenia in the Han Chinese population.

  8. Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans

    PubMed Central

    He, Longxia; Pang, Xiuhong; Chen, Penghui

    2016-01-01

    Autosomal dominant nonsyndromic hearing loss (ADNSHL) is extremely heterogeneous. So far the genetic etiological contribution of the gene POU4F3 associated with ADNSHL has been rarely reported. In our previous study, a c.603_604delGG mutation in the hair cell specific gene POU4F3 has been identified as the pathogenic cause in one of the seven Chinese Han ADNSHL families. In the present study, we performed targeted next-generation sequencing of 144 known deafness genes in another nine Chinese Han ADNSHL families and identified two more novel mutations in POU4F3, p.Leu311Pro and c.120+1G>C, as the pathogenic cause. Clinical characterization of the affected individuals in these three families showed that the three POU4F3 mutations may lead to progressive hearing loss with variable ages of onset and degrees of severity. Our results suggested that mutations in POU4F3 are a relatively common cause (3/16) for ADNSHL in Chinese Hans, which should be routinely screened in such cases during genetic testing. PMID:28053790

  9. ABO blood types associated with the risk of venous thromboembolism in Han Chinese people: A hospital-based study of 200,000 patients

    PubMed Central

    Sun, Xuefeng; Feng, Jun; Wu, Wei; Peng, Min; Shi, Juhong

    2017-01-01

    ABO blood types are putatively associated with the risk of venous thromboembolism (VTE), but it is not proved in Chinese people. A large population of Han Chinese patients discharged from Peking Union Medical College Hospital between January 2010 and June 2016 were retrospectively analyzed in a case-control study. A total of 1412 VTE patients were identified from 200,660 discharged Han Chinese patients, including 600 patients with deep vein thrombosis (DVT), 441 patients with pulmonary embolism, and 371 patients with both DVT and pulmonary embolism. The prevalence of non-O blood type was weakly but statistically higher in VTE patients compared with 199,248 non-VTE patients, with an odds ratio (OR) of 1.362 (95% confidence interval [CI], 1.205–1.540). Subgroup analysis showed that the OR for non-O blood type was still increased. It was greater in pre-hospital VTE (OR = 1.464) than that in hospital-acquired VTE (OR = 1.224), and greater in unprovoked VTE (OR = 1.859) than that in provoked VTE (OR = 1.227). The OR for non-O blood type decreased with age in subgroup analysis. These results suggest a weak but statistically significant correlation between non-O blood type and risk of VTE in Han Chinese people. PMID:28262729

  10. Association Between Dentin Matrix Protein 1 (rs10019009) Polymorphism and Ankylosing Spondylitis in a Chinese Han Population from Shandong Province

    PubMed Central

    Liu, Jian-Min; Cui, Ya-Zhou; Zhang, Geng-Lin; Zhou, Xiao-Yan; Pang, Jing-Xiang; Wang, Xue-Zheng; Han, Jin-Xiang

    2016-01-01

    Background: Ankylosing spondylitis (AS) is the most common rheumatic condition that is slowly progressive and predominantly affects adolescents. Pathological bone formation associated with AS is an important cause of disability. The aim of the study was to investigate the possible involvement of the genes related to endochondral ossification and ectopia ossification in genetic susceptibility to AS in a Chinese Han population. Methods: Sixty-eight single nucleotide polymorphisms (SNPs) from 13 genes were genotyped in discovery cohorts including 300 AS patients and 180 healthy controls. The rs10019009 in dentin matrix protein 1 (DMP1) gene shown as association with AS after multiple testing corrections in discovery cohorts was replicated in a validation independent cohort of 620 AS patients and 683 healthy controls. The rs10019009 was assessed with bioinformatics including phylogenetic context, F-SNP and FastSNP functional predictions, secondary structure prediction, and molecular modeling. We performed a functional analysis of rs10019009 via reverse transcription-polymerase chain reaction, alkaline phosphatase (ALP) activity in human osteosarcoma U2OS cells. Results: Interestingly, the SNP rs10019009 was associated with AS in both the discovery cohort (P = 0.0012) and validation cohort (P = 0.0349), as well as overall (P = 0.0004) in genetic case–control association analysis. After a multivariate logistic regression analysis, the effect of this genetic variant was observed to be independent of linkage disequilibrium. Via bioinformatics analysis, it was found that the amino acid change of the rs10019009 led to changes of SNP function, secondary structure, tertiary conformation, and splice mode. Finally, functional analysis of rs10019009 in U2OS cells demonstrated that the risk T allele of the rs10019009 increased enzymatic activity of ALP, compared to that of the nonrisk allele (P = 0.0080). Conclusions: These results suggested that the DMP1 gene seems to be

  11. Genetic susceptibility of eight nonsynonymous polymorphisms in HLA-DRB1 gene to hepatocellular carcinoma in Han Chinese

    PubMed Central

    Shi, Yanhui; Zhai, Weiyu; Wang, Bin; Zhao, Dongmei; Jin, He; Wang, Yuefei; Zhang, Jidong; An, Hongjun; Fu, Zhongze; Zhao, Kun; Lu, Changzhu

    2016-01-01

    Backgrounds and Objective Mounting evidence suggests that human leukocyte antigen (HLA) plays a central role in anti-virus and tumor defense. To test whether genetic variation in HLA-DRB1 gene, a key component of HLA system, can predict its predisposition to hepatocellular carcinoma (HCC), we thereby conducted an association study by genotyping 8 nonsynonymous polymorphisms in HLA-DRB1 gene among 257 HCC patients and 264 controls. Results All polymorphisms respected the Hardy-Weinberg equilibrium. The genotypes and alleles of rs17879599 differed significantly between patients and controls after Bonferroni correction (both P < 0.001), and the power to detect this significance was 94.4%. After adjusting for age, gender, smoking, drinking and hepatitis infection, the mutant allele of rs17879702 was significantly associated with an increased risk for HCC under additive (odds ratio [OR] = 2.12, 95% confidence interval [CI]: 1.20-4.02, P = 0.004) and dominant (OR = 2.51, 95% CI: 1.39–2.96, P = 0.004) models. Haplotype analysis indicated that haplotype A-T-C-T-G-C-T-A (alleles ordered by rs199514452, rs201540428, rs201614260, rs17879702, rs17880292, rs17879599, rs17424145 and rs35445101) was overrepresented in patients and enhanced predisposition to HCC (adjusted OR = 2.72, 95% CI: 1.24–5.78, P = 0.004). In cumulative analysis, carriers of 7–9 unfavorable alleles had a 2.41-fold (95% CI: 1.18–4.92, P = 0.016) increased risk for HCC after adjusting for confounding factors relative to those possessing 4 or less unfavorable alleles. Materials and Methods Genotypes were determined by ligase detection reaction. HCC patients were newly diagnosed, histopathologically confirmed or previously untreated and controls were cancer-free. Conclusions Our findings suggest an independent leading contribution of rs17879599 in the 2nd exon of HLA-DRB1 gene to HCC risk in Han Chinese. PMID:27821814

  12. A case-control study of sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

    PubMed

    Zheng, Jinxiang; Huang, Erwen; Tang, Shuangbo; Wu, Qiuping; Huang, Lei; Zhang, Dongchuan; Quan, Li; Liu, Chao; Cheng, Jianding

    2015-03-01

    To study the epidemiological characteristics of sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population during 2007 to 2013, we gathered 879 SUNDS victims from Dongguan City and in the Longgang District in Shenzhen City as the case group then selected 879 all-cause death cases, adopting a 1:1 pair method, as the control group I and collected 8142 all-cause death cases from the Bao'an District in Shenzhen City as the control group II, simultaneously. Case information collected was statistically analyzed. The annual incidence of SUNDS is 1.02 and 2.23 per 100,000 person-years for Dongguan City and in the Longgang District, respectively. The number of male and female victims is drastically different, with a ratio of 13.92:1, whereas the incidence between the 2 sexes is significantly different (χ2 = 78.734, P < 0.01), with an odds ratio value of 11.32 (95% confidence interval, 5.75-22.28). The age of death of SUNDS cases ranges from 17 to 55 years with a median age of 35 years; furthermore, the difference of distribution of age of death between the SUNDS victims and the all-cause death population is significant (χ2 = 767.12, P < 0.001). The birthplace of SUNDS victims is distributed throughout 27 provinces of China, but the difference between the SUNDS victims and the all-cause death population is not significant (χ2 = 27.273, P > 0.05). The monthly incidence of SUNDS is relatively higher from March to June, whereas the difference of monthly distribution between SUNDS victims and all-cause death population is significant (χ2 = 9.869, P < 0.05), with an odds ratio value of 1.42 (95% confidence interval, 1.14-1.76). Although the majority of SUNDS occurred during midnight sleep, they were mostly discovered from 7 to 9 am once the inmates or spouses woke in the morning. A total of 97.74% of the SUNDS victims were blue-collar factory workers with a high-intensity labor and poor education background. This investigation confirmed the

  13. Beyond the myth: the mermaid syndrome from Homerus to Andersen. A tribute to Hans Christian Andersen's bicentennial of birth.

    PubMed

    Romano, Stefania; Esposito, Vincenzo; Fonda, Claudio; Russo, Anna; Grassi, Roberto

    2006-05-01

    Mermaid or sirens have been part of the cultural tradition of the sailors during the first expeditions in the western world. The Siren's Myth appeared for a first time with Homer, who described in the Odyssey some singing creatures that lured the enchanted sailors to death. More frequently described with a bird body and a female head, sometimes the female part was extended to torso, with arms prolonged in sturdy claws. In the Latin literature Publius Ovidius Naso presented in the Métamorphoses these creatures. Proposed ethymology for the word "siren" seems to confirm the prerogatives of these creatures, related to magnetism, seduction, charm. The first figuration of Sirens resembling to fish-women was in the second century bc. Hans Christian Andersen provided to leave us the strongest legend of Siren in the well-known fairy tale "The Little Mermaid". Following this story, Sirens are definitely considered as beautiful half-fish women who lived in the bottom of the sea, having a lovely voice to be used when they rise up to allow sweeter the agony of the wrecked sailors. Beyond the Myth, may the Siren really exist? It can be hypothesized that these creatures probably were individuals affected by sirenomelia. In our literature and medical review, we describe the etiology of the disease, and we illustrated the anatomical features of fetuses affected by this pathology using MDCT 3D reconstructions. Syrenomelia is a condition not compatible with the normal life, however nine cases of "mermaid" survived to reconstructive surgery have been reported until now. In our report we also presented a case of survival baby girl affected by sirenomelia, before and after surgery, with correlative radiologic imaging findings. The most important characteristic that seems to allow survival of the affected individuals is the presence of one functional kidney, displaced in pelvis. As so dramatically tragic was the history of the Andersen Little Mermaid, so unattended pleasant would be the

  14. Association Between Promoter Polymorphisms of the GRP78 Gene and Risk of Type 2 Diabetes in a Chinese Han Population

    PubMed Central

    Liu, Shengyuan; Li, Tao; Xiong, Xingdong; Yao, Songpo; Chen, Zhongwei; Wang, Changyi

    2013-01-01

    There are large amounts of unfolding or misfolding protein accumulation in the endoplasmic reticulum in patients with type 2 diabetes (T2D), which in turn induces the expression of the glucose-regulated protein 78 (GRP78) that plays a key role in influencing insulin secretion and maintaining glucose homeostasis in pancreatic beta cells. The aim in the study is to analyze the potential association between single-nucleotide polymorphisms (SNPs) of GRP78 and the risk of T2D. To assess the association between GRP78 polymorphisms and T2D, a case–control study was conducted among 1058 consecutive unrelated subjects. Of the 1058 subjects, 523 of them were diagnosed with T2D and 535 of them were healthy controls. Four SNPs with R2>0.8 and the minor allele frequency>0.05 (rs391957, rs17840761, rs17840762, and rs11355458) in the GRP78 gene promoter were analyzed. Overall, no associations of GRP78 polymorphisms with T2D were observed in genotypic analyses. In addition, haplotypes combining those SNPs in the promoter in high linkage disequilibrium were also not associated with a T2D risk. However, the levels of fasting plasma glucose and HbA1c in patients with the −415AA/−180GG genotype were significantly lower than those of the patients with −415GG/−180deldel and −415AG/−180Gdel genotypes, and the level of fasting insulin in patients with the −415AA/−180GG genotype was significantly lower than that of the patients with −415GG/−180deldel. The study does not support a role for promoter polymorphisms of GRP78 in T2D in a Chinese Han population, but it does provide a clue for association between low levels of fasting plasma glucose, HbA1c and fasting insulin, and the −415AA/−180GG model. PMID:23402331

  15. Association of genetic variations in the Wnt signaling pathway genes with myocardial infarction susceptibility in Chinese Han population

    PubMed Central

    Abudoukelimu, Mayila; Yang, Yi-ning; Li, Xiao-mei; Xie, Xiang; Chen, Bang-dang; Liu, Fen; He, Chun-hui; Li, Hua-yin; Ma, Yi-tong

    2016-01-01

    Numerous studies have implicated the Wnt pathway in the development and progression of myocardial infarction (MI); however, there are very few investigations addressing the effects of polymorphisms in the Wnt pathway genes on MI susceptibility. We investigated the possible correlation between genetic variations in Wnt pathway genes and MI risk. Three polymorphisms (rs7832767 C > T in SFRP1 gene, rs2293303 C > T in CTNNB1 gene, rs16893344 C > T in WISP1 gene) were finally selected and genotyped in 465 MI patients and 485 healthy controls, using the PCR-RFLP method. We found that the SFRP1 rs7832767 variant allele (T) was associated with a significantly increased risk of MI [TT vs. CC: adjusted odds ratio (AOR) = 3.13, 95% CI = 1.78-5.51; CT/TT vs. CC: AOR = 1.53, 95% CI = 1.12-2.08; TT vs. CC/CT: AOR = 2.87, 95% CI = 1.66-4.97)]. The significant association with MI risk was also found for the CTNNB1 rs2293303 (CT vs. CC: AOR = 3.48, 95% CI = 2.28-5.33; TT vs. CC: AOR = 7.37, 95% CI = 2.08-26.16; CT/TT vs. CC: AOR = 3.72, 95% CI = 2.46-5.62; TT vs. CC/CT: AOR = 5.52, 95% CI = 1.58-19.28), and WISP1 rs16893344 polymorphisms (CT vs. CC: AOR = 2.43, 95% CI = 1.70-3.47; TT vs. CC: AOR = 5.17, 95% CI = 1.85-14.41; CT/TT vs. CC: AOR = 2.58, 95% CI = 1.83-3.66; TT vs. CC/CT: AOR = 3.88, 95% CI = 1.41-10.64). The associations remain significant in stratified analysis by demographic and clinical characteristics of participants, with few exceptions. Our study provided the first evidence of the association between polymorphisms in the Wnt pathway genes and MI susceptibility in Chinese Han population. Epidemiological studies with larger samples and functional analyses are warranted to further verify our results. PMID:27391264

  16. Association of the LIPG 584C > T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

    PubMed Central

    2010-01-01

    Background Endothelial lipase (EL) is a major determinant of high-density lipoprotein-cholesterol (HDL-C) metabolism, but the association of endothelial lipase gene (LIPG) polymorphism and serum HDL-C levels is scarce and conflicting in diverse populations. Bai Ku Yao is an isolated subgroup of the Yao minority in China. This study was designed to detect the association of LIPG 584C > T (rs2000813) polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 645 subjects of Bai Ku Yao and 638 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the LIPG 584C > T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC), HDL-C, low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.05 - 0.001). The frequency of C and T alleles was 73.5% and 26.5% in Bai Ku Yao, and 67.9% and 32.1% in Han (P < 0.01); respectively. The frequency of CC, CT and TT genotypes was 50.4%, 46.2% and 3.4% in Bai Ku Yao, and 41.4%, 53.1% and 5.5% in Han (P < 0.01); respectively. Serum HDL-C levels in both ethnic groups were different among the three genotypes (P < 0.05 for each). Serum TC levels in both ethnic groups were also different between the CC and CT/TT genotypes (P < 0.05 for each). The T allele carriers had higher serum HDL-C and TC levels than the T allele noncarriers. Multivariate logistic regression analysis showed that the levels of HDL-C and ApoB were correlated with genotypes in Bai Ku Yao (P < 0.05 for each), whereas the levels of TC and HDL-C were associated with genotypes in Han Chinese (P < 0.05 and P < 0.01). Serum lipid parameters were also correlated with several environmental factors in the both ethnic

  17. II. Comment on “Critique and correction of the currently accepted solution of the infinite spherical well in quantum mechanics” by Huang Young-Sea and Thomann Hans-Rudolph

    NASA Astrophysics Data System (ADS)

    Prados, Antonio; Plata, Carlos A.

    2016-12-01

    We comment on the paper "Critique and correction of the currently accepted solution of the infinite spherical well in quantum mechanics" by Huang Young-Sea and Thomann Hans-Rudolph, EPL 115, 60001 (2016) .

  18. Interaction of CARD14, SENP1 and VEGFA polymorphisms on susceptibility to high altitude polycythemia in the Han Chinese population at the Qinghai-Tibetan Plateau.

    PubMed

    Chen, Yu; Jiang, Chunhua; Luo, Yongjun; Liu, Fuyu; Gao, Yuqi

    2016-03-01

    High altitude polycythemia (HAPC) is a serious public health problem among Han Chinese immigrants to the Qinghai-Tibetan Plateau. This study aims to explore the genetic basis of HAPC in the Han Chinese population. 484 male subjects (234 patients and 250 controls) were enrolled in this study. Genotyping was performed for polymorphisms of I/D in ACE, C1772T and G1790A in exon 12 of HIF-1α, rs2567206 in CYP1B1, rs726354 in SENP1, rs3025033 in VEGFA, rs7251432 in HAMP, rs2075800 in HSPA1L and rs8065364 in CARD14. Gene-gene interaction was assessed by multifactor dimensionality reduction. A significant association was seen between CARD14 polymorphism rs8065364 and risk of HAPC development in male Han Chinese, and the C allele of rs8065364 was a risk factor (odds ratio (OR)=1.59, 95% confidence interval (95% CI)=1.21-2.08). Gene-gene interaction analysis indicated that a synergistic relationship existed between rs3025033 and rs8065364 (1.00%), rs3025033 and rs726354 (0.18%), and rs7