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Sample records for genetic studies qatar

  1. Qatar.

    PubMed

    1987-11-01

    Qatar is an oil-exporting Arab country that juts out from the north coast of Saudi Arabia into the Persian Gulf. Fewer than half of the 320,000 population are Arabs, however, most are Pakistani, Indian, Iranian and Egyptian foreign workers. Education is compulsory to age 16, and 60% are literate. Oil and refined petroleum products account for the $2 billion trade surplus, amounting to a $27,000 annual per capita income. The government is centralized and run by consensus under the Amir, head of the Al Thani, or ruling family. Political parties are banned. Qatar is evolving from a traditional to a modern welfare state. PMID:12177955

  2. Qatar.

    PubMed

    1992-04-01

    Qatar is a country of 11,437 sq. km with 400,000 inhabitants, of whom 65% are literate. Independence was gained on September 3, 1971. The terrain consists of flat, barren desert, with a hot and dry climate. Arabic and English are spoken by Arab, South Asian, and Iranian ethnic groups who are largely of the Islamic faith. Life expectancy is 58 years. The gross domestic product is $5.2 billion, growing at a rate of 4%. Per capita income is $13,000. The country's natural resources include petroleum, natural gas, and fish. Oil production, refining, natural gas development, fishing, cement, power/desalinization plants, petrochemicals, steel, and fertilizers are areas of economic production. Industrial and consumer goods are imported and oil is exported. In-depth information is also given on the people and history, government and principal officials, political conditions, the economy, defense, foreign relations, relations with the US, and names of principal US officials in the country. PMID:12178044

  3. Proposed artificial recharge studies in northern Qatar

    USGS Publications Warehouse

    Kimrey, J.O.

    1985-01-01

    The aquifer system in northern Qatar comprises a water-table aquifer in the Rus Formation which is separated by an aquitard from a partially confined aquifer in the top of the overlying Umm er Radhuma Formation. These two aquifers are composed of limestone and dolomite of Eocene and Paleocene age and contain a fragile lens of freshwater which is heavily exploited as a source of water for agricultural irrigation. Net withdrawals are greatly in excess of total recharge, and quality of ground water is declining. Use of desalinated seawater for artificial recharge has been proposed for the area. Artificial recharge, on a large scale, could stabilize the decline in ground-water quality while allowing increased withdrawals for irrigation. The proposal appears technically feasible. Recharge should be by injection to the Umm er Radhuma aquifer whose average transmissivity is about 2,000 meters squared per day (as compared to an average of about 200 meters squared per day for the Rus aquifer). Implementation of artificial recharge should be preceded by a hydrogeologic appraisal. These studies should include test drilling, conventional aquifer tests, and recharge-recovery tests at four sites in northern Qatar. (USGS)

  4. An exploratory study on medications in Qatar homes

    PubMed Central

    Kheir, N; Hajj, MS El; Wilbur, K; Kaissi, RML; Yousif, A

    2011-01-01

    Background Drug therapy is the most often used intervention for treatment and prevention of disease. However, if used inappropriately, drugs can cause more harm than good. Improper drug storage and disposal can have a direct impact on public safety, the environment, and the health care services. The purpose of this study was to characterize medications stored in Qatar homes and to explore their methods of storage and disposal, and to identify the public’s source of information related to medicines. Methods For the purpose of this cross-sectional exploratory study, a list of telephone numbers was generated from Qatar’s telephone directory using a systematic sampling method. Individuals consenting to participate were interviewed using a multipart pretested survey instrument. Results Data were collected from a total of 49 homes. Most respondents did not have a designated compartment or box specifically for storing medications. The majority of drugs (48%) were kept in bedrooms and a number of respondents were keeping their drugs in the fridge and in the kitchen. The most often stored classes of medicines were analgesics, antihistamines, nutritional supplements, and medications used for the respiratory system. Most respondents disposed of unwanted medicines by throwing them in the trash. In about 15% of cases, the dosage of drug taken was different from the instructions on the label. Sharing of prescription medicines was not uncommon. The majority of respondents sought information related to drugs from doctors. Conclusion These findings raise concerns about how medications are stored and disposed of in the community. The fact that no household routinely returned unwanted medications to a pharmacy for proper disposal places the environment at risk. There is a need for more societal awareness about the safe handling and storage of drugs in the home, and about the professional role of the pharmacist. PMID:22279414

  5. An assessment of patients’ knowledge of osteoporosis in Qatar: A pilot study

    PubMed Central

    Hammoudeh, Samer; Abdelrahman, Magdi Hassan; Chandra, Prem; Hammoudeh, Mohammed

    2015-01-01

    Osteoporosis is a disease that affects the bones. It leads to increased risk of fractures as a result of decreased bone mineral density. The goal of this study was to assess the general perception of osteoporosis as well as knowledge of lifestyle, risk factors, and preventive measures among patients in Qatar. The study was conducted between September 2013 and September 2014. The study subjects (n = 93) were patients diagnosed with osteoporosis who attended the Outpatient Rheumatology Clinic at Hamad General Hospital in Doha, Qatar. The results showed that those with a university or graduate degree had a significantly higher level of knowledge about osteoporosis (p = 0.009) than those with less education. Among those in our study, knowledge related to osteoporosis was principally obtained through media sources such as television and radio (39%). In conclusion, osteoporosis patients in Qatar need a better understanding of the disease. Identifying thought patterns related to the perception of osteoporosis and treatment might assist in building a foundation for management modalities and effective preventive strategies for the disease in Qatar. PMID:26835409

  6. Trends and characteristics of injuries in the State of Qatar: hospital-based study.

    PubMed

    Bener, Abdulbari; Abdul Rahman, Yassir S; Abdel Aleem, Eltayib Y; Khalid, Muayad K

    2012-01-01

    Injuries account for a large burden of mortality and morbidity in the State of Qatar. No comprehensive study has been conducted on all types of injuries in the State of Qatar. The objective of this study was to determine the trend in the number, incidence and pattern of injuries in the State of Qatar. This hospital-based study is a retrospective analysis of 53,366 patients treated at the accident and emergency and trauma centres for injuries during the period from 2006 to 2010. Injuries were determined according to the ICD 10 criteria. The details of the entire trauma patients who were involved in occupational/domestic injuries were extracted from the database of the Emergency Medical Services (EMS), Hamad Medical Corporation. Our results demonstrated that the rates of injury remained relatively stable in the State of Qatar over the five-year period. Those most at risk of injury were non-Qatari males who were below 30 years. Road traffic accidents (RTA) (36.7%) followed by falls causing back injuries (11.0%) were the most common types of injuries during the period. Most of the injuries occurred at the head for both males (17.7%) and females (13.5%); this was consistently the case across all of the age groups. The greatest proportion of RTA (21.2%), industrial machinery injuries (16.4%), construction injuries (15.5%), recreational sporting injuries (20.5%) and beach/sea/ocean injuries (15.0%) resulted in head injuries. Intervention efforts need to be aimed at reducing occupational injuries, RTA injuries and work-related hazards in the State of Qatar. PMID:22455450

  7. Public’s attitudes towards community pharmacy in Qatar: a pilot study

    PubMed Central

    El Hajj, Maguy Saffouh; Salem, Samah; Mansoor, Hend

    2011-01-01

    Objectives To assess the public’s attitudes towards the community pharmacist’s role in Qatar, to investigate the public’s use of community pharmacy, and to determine the public’s views of and satisfaction with community pharmacy services currently provided in Qatar. Materials and methods Three community pharmacies in Qatar were randomly selected as study sites. Patients 16 years of age and over who were able to communicate in English or Arabic were randomly approached and anonymously interviewed using a multipart pretested survey. Results Over 5 weeks, 58 patients were interviewed (60% response rate). A total of 45% of respondents perceived community pharmacists as having a good balance between health and business matters. The physician was considered the first person to contact to answer drug- related questions by 50% of respondents. Most patients agreed that the community pharmacist should provide them with the medication directions of use (93%) and advise them about the treatment of minor ailments (79%); however, more than 70% didn’t expect the community pharmacist to monitor their health progress or to perform any health screening. Half of the participants (52%) reported visiting the pharmacy at least monthly. The top factor that affected a patient’s choice of any pharmacy was pharmacy location (90%). When asked about their views about community pharmacy services in Qatar, only 37% agreed that the pharmacist gave them sufficient time to discuss their problem and was knowledgeable enough to answer their questions. Conclusion This pilot study suggested that the public has a poor understanding of the community pharmacist’s role in monitoring drug therapy, performing health screening, and providing drug information. Several issues of concern were raised including insufficient pharmacist– patient contact time and unsatisfactory pharmacist knowledge. To advance pharmacy practice in Qatar, efforts may be warranted to address identified issues and to

  8. Observational study of atmospheric surface layer and coastal weather in northern Qatar

    NASA Astrophysics Data System (ADS)

    Samanta, Dhrubajyoti; Sadr, Reza

    2016-04-01

    Atmospheric surface layer is the interaction medium between atmosphere and Earth's surface. Better understanding of its turbulence nature is essential in characterizing the local weather, climate variability and modeling of turbulent exchange processes. The importance of Middle East region, with its unique geographical, economical and weather condition is well recognized. However, high quality micrometeorological observational studies are rare in this region. Here we show experimental results from micrometeorological observations from an experimental site in the coastal region of Qatar during August-December 2015. Measurements of winds are obtained from three sonic anemometers installed on a 9 m tower placed at Al Ghariyah beach in northern Qatar (26.08 °N, 51.36 °E). Different surface layer characteristics is analyzed and compared with earlier studies in equivalent weather conditions. Monthly statistics of wind speed, wind direction, temperature, humidity and heat index are made from concurrent observations from sonic anemometer and weather station to explore variations with surface layer characteristics. The results also highlights potential impact of sea breeze circulation on local weather and atmospheric turbulence. The observed daily maximum temperature and heat index during morning period may be related to sea breeze circulations. Along with the operational micrometeorological observation system, a camera system and ultrasonic wave measurement system are installed recently in the site to study coastline development and nearshore wave dynamics. Overall, the complete observational set up is going to provide new insights about nearshore wind dynamics and wind-wave interaction in Qatar.

  9. Case study on combined CO₂ sequestration and low-salinity water production potential in a shallow saline aquifer in Qatar.

    PubMed

    Ahmed, Tausif Khizar; Nasrabadi, Hadi

    2012-10-30

    CO₂ is one of the byproducts of natural gas production in Qatar. The high rate of natural gas production from Qatar's North Field (world's largest non-associated gas field) has led to the production of significant amounts of CO₂. The release of CO₂ into the atmosphere may be harmful from the perspective of global warming. In this work, we study the CO₂ sequestration potential in Qatar's Aruma aquifer. The Aruma aquifer is a saline aquifer in the southwest of Qatar. It occupies an area of approximately 1985 km₂ on land (16% of Qatar's total area). We have developed a compositional model for CO₂ sequestration in the Aruma aquifer on the basis of available log and flow test data. We suggest water production at some distance from the CO₂ injection wells as a possible way to control the pore pressure. This method increases the potential for safe sequestration of CO₂ in the aquifer without losing integrity of the caprock and without any CO₂ leakage. The water produced from this aquifer is considerably less saline than seawater and could be a good water source for the desalination process, which is currently the main source of water in Qatar. The outcome of the desalination process is water with higher salinity than the seawater that is currently discharged into the sea. This discharge can have negative long-term environmental effects. The water produced from the Aruma aquifer is considerably less saline than seawater and can be a partial solution to this problem. PMID:22672956

  10. Project analysis procedures for an OPEC country: case study of Qatar's Northwest Dome Gas Project

    SciTech Connect

    Ali, A.B.; Khalifah, H.

    1986-01-01

    The discovery of oil in most OPEC countries in the 1940s changed the economies of these countries from a state of capital shortage and stagnation to a state of capital surplus and economic growth. This growth, however, is lopsided. Oil production and export dominate the gross domestic products (GDPs) of those economies. Concern arising during the 1970s about overdependence on crude oil export as the main source of national income has resulted in the initiation of various industrial development programs in OPEC states aiming to diversify their economies. This study was conducted with two primary objectives: (1) to identify and understand the features of selected OPEC countries' development problems, strategies and plans, focusing on the role of oil and gas resources and opportunities for diversification, and (2) to suggest an appropriate development strategy, with project evaluation implications, for capital-abundant, labor-scarce OPEC countries in the Gulf region such as Qatar. This proposed approach is designed to evaluate the project from its contribution to the national income, people's welfare, the expansion of the economy's absorptive capacity, and relief of the economy's dependence on nonrenewable resources. The Northwest Dome Gas Project in Qatar was selected as an illustrative case study for this approach.

  11. Prehospital versus Emergency Room Intubation of Trauma Patients in Qatar: A-2-year Observational Study

    PubMed Central

    Al-Thani, Hassan; El-Menyar, Ayman; Latifi, Rifat

    2014-01-01

    Background: The impact of prehospital intubation (PHI) in improving outcome of trauma patients has not been adequately evaluated in the developing countries. Aims: The present study analyzed the outcome of PHI versus emergency room intubation (ERI) among trauma patients in Qatar. Materials and Methods: Data were retrospectively reviewed for all intubated trauma patients between 2010 and 2011. Patients were classified according to location of intubation (PHI: Group-1 versus ERI: Group-2). Data were analyzed and compared. Results: Out of 570 intubated patients; 482 patients (239 in group-1 and 243 in group-2) met the inclusion criteria with a mean age of 32 ΁ 14.6 years Head injury (P = 0.003) and multiple trauma (P = 0.004) were more prevalent in group-1, whereas solid organ injury predominated in group-2 (P = 0.02). Group-1 had significantly higher mean injury severity scoring (ISS), lower Glasgow coma scale (GCS), greater head abbreviated injury score and longer activation, response, scene and total emergency medical services times. The mortality was higher in group-1 (53% vs. 18.5%; P = 0.001). Multivariate analysis showed that GCS [odds ratio (OR) 0.78, P = 0.005) and ISS (OR 1.12, P = 0.001) were independent predictors of mortality. Conclusions: PHI is associated with high mortality when compared with ERI. However, selection bias cannot be ruled out and therefore, PHI needs further critical assessment in Qatar. PMID:24678471

  12. Patterns in Place of Cancer Death in the State of Qatar: A Population-Based Study

    PubMed Central

    Mohsen, Hassan; Haddad, Pascale; Allam, Ayman; Hassan, Azza

    2014-01-01

    Background International studies show that most people prefer to die at home; however, hospitals remain the most common place of death (PoD). This study aims to investigate the patterns in PoD and the associated factors, which are crucial for end-of-life cancer care enhancement. Method This retrospective, population-based study analyzed all registered cancer deaths in Qatar between January 1, 2006 and December 31, 2012 (n = 1,224). The main outcome measures were patient characteristics: age, gender, nationality, cancer diagnosis, year of death, and PoD. Time trends for age-standardized proportions of death in individual PoDs were evaluated using chi-square analysis. Odds ratio (OR) were determined for variables associated with the most preferred (acute palliative care unit [APCU] and hematology/oncology ward) versus least preferred (ICU and general medicine ward) PoDs in Qatar, stratified by nationality. Results The hematology/oncology ward was the most common PoD (32.4%; 95% CI 26.7–35.3%) followed by ICU (31.4%; 95% CI 28.7–34.3%), APCU (26.9%; 95% CI 24.3–29.6%), and general medicine ward (9.2%; 95% CI 7.6–11.1%). APCU trended upward (+0.057/year; p<0.001), while the hematology/oncology ward trended downward (−0.055/year; p<0.001). No statistically significant changes occurred in the other PoDs; home deaths remained low (0.4%; 95% Cl 0.38–0.42). Qataris who died from liver cancer (OR 0.23) and aged 65 or older (OR 0.64) were less likely to die in the APCU or hematology/oncology ward (p<0.05). Non-Qataris who died from pancreatic cancer (OR 3.12) and female (OR 2.05) were more likely to die in the APCU or hematology/oncology ward (p<0.05). Both Qataris and non-Qataris who died from hematologic malignancy (OR 0.18 and 0.41, respectively) were more likely to die in the ICU or general medicine ward (p<0.05). Conclusion A high percentage of cancer deaths in Qatar occur in hospital. As home was the preferred PoD for most people, effective home care and

  13. Study exploring depression and cardiovascular diseases amongst Arabic speaking patients living in the State of Qatar: Rationale and methodology

    PubMed Central

    Donnelly, Tam Truong; Al Suwaidi, Jassim M; Alqahtani, Awad; Assad, Nidal; Qader, Najla Abdul; Byrne, Carolyn; Singh, Rajvir; Fung, Tak Shing

    2012-01-01

    Abstract: In Qatar, cardiovascular diseases are the leading cause of death. Studies show that depression is associated with an increased morbidity and mortality among cardiovascular patients. Thus, early detection of, and intervention for, depression among cardiovascular patients can reduce cardiovascular morbidity and mortality, and save health care costs. To date there is no study in the Gulf region exploring depression among cardiovascular patients. The goals of our three-phase research program are to (1) understand the mental health issues, specifically depression, as experienced by cardiovascular patients living in the State of Qatar; (2) identify and implement strategies that would prevent depression and assist patients to deal with depression; and (3) evaluate, facilitate, and sustain strategies that are effective at reducing depression and foster its treatment among cardiovascular patients. This paper describe phase I of the research program. Using both quantitative and qualitative research methodologies, we will investigate (1) the prevalence and severity of depression among patients who have confirmed diagnosis of cardiovascular diseases (2) how contextual factors such as social, cultural, and economic factors contribute to the risk of depression and its management among cardiovascular patients, and (3) formulate effective intervention strategies that are expected to increase awareness, prevention of and treatment for depression among cardiovascular patients, thus reducing cardiovascular diseases morbidity and mortality in Qatar. PMID:24688991

  14. Acinetobacter Infections among Adult Patients in Qatar: A 2-Year Hospital-Based Study

    PubMed Central

    Al Samawi, Musaed Saad; Khan, Fahmi Yousef; Eldeeb, Yasser; Almaslamani, Muna; Alkhal, Abdullatif; Alsoub, Hussam; Ghadban, Wissam; Howady, Faraj; Hashim, Samar

    2016-01-01

    This retrospective study was conducted at Hamad General Hospital, Qatar, to describe the demographic data, clinical features underlying diseases, antimicrobial susceptibility, and outcome of A. baumannii infection. It involved all adult patients 15 years of age or older who were managed at Hamad General Hospital for A. baumannii infection from January 1, 2012, to December 31, 2013. We identified a total of 239 patients with A. baumannii infection, of which 182 (76.2%) were males. The mean age was 49.10 ± 19.57 years. The majority of the episodes (25.1%) occurred in elderly patients (≥65 years) and the most commonly identified site of A. baumannii infection was the respiratory tract, 117 (48.9%). Most episodes of infection, 231 (96.7%), were hospital-acquired and high rate of nosocomial infections occurred in the medical intensive care unit, 66 (28.6%). All patients had underlying medical conditions. Maximum resistance was seen to cefotaxime, 147 (58.3%), and minimum resistance was seen to colistin, 2 (1.4%). Of the 239 isolates, 102 (42.7%) were susceptible and 137 (57.3%) were multidrug-resistant. The in-hospital mortality in our study was 31%. Male gender, multidrug resistance, and septic shock were found to be independent mortality predictors. PMID:27433169

  15. Acinetobacter Infections among Adult Patients in Qatar: A 2-Year Hospital-Based Study.

    PubMed

    Al Samawi, Musaed Saad; Khan, Fahmi Yousef; Eldeeb, Yasser; Almaslamani, Muna; Alkhal, Abdullatif; Alsoub, Hussam; Ghadban, Wissam; Howady, Faraj; Hashim, Samar

    2016-01-01

    This retrospective study was conducted at Hamad General Hospital, Qatar, to describe the demographic data, clinical features underlying diseases, antimicrobial susceptibility, and outcome of A. baumannii infection. It involved all adult patients 15 years of age or older who were managed at Hamad General Hospital for A. baumannii infection from January 1, 2012, to December 31, 2013. We identified a total of 239 patients with A. baumannii infection, of which 182 (76.2%) were males. The mean age was 49.10 ± 19.57 years. The majority of the episodes (25.1%) occurred in elderly patients (≥65 years) and the most commonly identified site of A. baumannii infection was the respiratory tract, 117 (48.9%). Most episodes of infection, 231 (96.7%), were hospital-acquired and high rate of nosocomial infections occurred in the medical intensive care unit, 66 (28.6%). All patients had underlying medical conditions. Maximum resistance was seen to cefotaxime, 147 (58.3%), and minimum resistance was seen to colistin, 2 (1.4%). Of the 239 isolates, 102 (42.7%) were susceptible and 137 (57.3%) were multidrug-resistant. The in-hospital mortality in our study was 31%. Male gender, multidrug resistance, and septic shock were found to be independent mortality predictors. PMID:27433169

  16. Is diabetes management in primary care improving clinical outcomes? A study in Qatar.

    PubMed

    Mochtar, I; Al-Monjed, M F

    2015-04-01

    There has been little research into the effectiveness of primary-care diabetes clinics in the Middle East. This study in Qatar compared patient outcomes at a primary-care facility with a dedicated diabetes clinic and one without. Using a cross-sectional method, data on demographics, diabetes status and 6 clinical outcomes of diabetes care were collected from the records of patients who visited the clinics during 2012. Diabetes management in both facilities improved clinical outcomes over the 1-year observation period. The mean total cholesterol of patients attending the special clinic (n = 102) decreased significantly from 4.66 to 4.27 mmol/dL and LDL cholesterol from 3.42 to 3.22 mmol/dL. The LDL cholesterol of patients receiving standard care (n = 108) reduced significantly from 3.41 to 3.22 mmol/dL and HDL cholesterol increased from 0.83 to 0.87 mmol/dL. Inter-provider comparisons indicated that the outcomes in the facility with a diabetes clinic were not superior to those in the facility with standard care. PMID:26077518

  17. Attitudes toward science among grades 3 through 12 Arab students in Qatar: findings from a cross-sectional national study

    NASA Astrophysics Data System (ADS)

    Said, Ziad; Summers, Ryan; Abd-El-Khalick, Fouad; Wang, Shuai

    2016-03-01

    This study assessed students' attitudes toward science in Qatar. A cross-sectional, nationwide probability sample representing all students enrolled in grades 3 through 12 in the various types of schools in Qatar completed the 'Arabic Speaking Students' Attitudes toward Science Survey' (ASSASS). The validity and reliability of the 32-item instrument, encompassing five sub-scales, have already been shown to be robust. The present analysis focused on responses from 1978 participants representing the students who completed the ASSASS in Arabic. Descriptive statistics were computed and a competing pair of multiple indicators multiple causes models is presented that attempt to link patterns in students' responses to the ASSASS with a set of indicators. The final model retained student age, gender, nationality (i.e. Qatari vs. Non-Qatari Arab), and school type as indicators. Findings from this study suggest that participants' attitudes toward science decrease with age, and that these attitudes and related preferences are influenced by students' nationality and the type of school they attend. Equally important, the often-reported advantages for male over female precollege students in terms of attitudes toward science were much less prominent in the present study.

  18. Challenges and opportunities of US and Arab collaborations in health services research: a case study from Qatar.

    PubMed

    Hammoud, Maya M; Elnashar, Maha; Abdelrahim, Huda; Khidir, Amal; Elliott, Heather A K; Killawi, Amal; Padela, Aasim I; Al Khal, Abdul Latif; Bener, Abdulbari; Fetters, Michael D

    2012-11-01

    Economic globalization and advances in technology have made it more feasible and even necessary to develop international research collaborations in global public health. Historically, collaborations in global research described in the literature have been mostly "North-South" collaborations in which the more developed "North" country works together with a developing "South" country to conduct research in the latter. This type of collaboration has for the most part, represented unequal partnership and rarely left behind a lasting impact. Recently, the opportunity for a new kind of international research partnership has emerged in which the host country has significant financial resources, but relatively limited expertise in research Methodology or techniques and research implementation.  This type of collaboration features a relative equalization of power between the international partners. The purpose of this paper is to describe the process of building a successful research collaboration between a team in the United States and a team in Qatar, a rich Arabic nation in Gulf. We present a case study that provides an overview of our own project focused on the development of a culturally and linguistically adapted health care quality instrument for Qatar, discussing many of the benefits and challenges we encountered during each phase of instrument development. We present recommendations for researchers seeking sustainable and equitable partnerships with the Arab World. PMID:23121751

  19. Challenges and Opportunities of US and Arab Collaborations in Health Services Research: A Case Study from Qatar

    PubMed Central

    Hammoud, Maya M.; Elnashar, Maha; Abdelrahim, Huda; Khidir, Amal; Elliott, Heather A.K.; Killawi, Amal; Padela, Aasim I.; Khal, Abdul Latif Al; Bener, Abdulbari; Fetters, Michael D.

    2012-01-01

    Economic globalization and advances in technology have made it more feasible and even necessary to develop international research collaborations in global public health. Historically, collaborations in global research described in the literature have been mostly “North-South” collaborations in which the more developed “North” country works together with a developing “South” country to conduct research in the latter. This type of collaboration has for the most part, represented unequal partnership and rarely left behind a lasting impact. Recently, the opportunity for a new kind of international research partnership has emerged in which the host country has significant financial resources, but relatively limited expertise in research methodology or techniques and research implementation. This type of collaboration features a relative equalization of power between the international partners. The purpose of this paper is to describe the process of building a successful research collaboration between a team in the United States and a team in Qatar, a rich Arabic nation in Gulf. We present a case study that provides an overview of our own project focused on the development of a culturally and linguistically adapted health care quality instrument for Qatar, discussing many of the benefits and challenges we encountered during each phase of instrument development. We present recommendations for researchers seeking sustainable and equitable partnerships with the Arab World. PMID:23121751

  20. A retrospective epidemiological study on the incidence of salmonellosis in the State of Qatar during 2004–2012

    PubMed Central

    Farag, Elmoubasher; Garcell, Humberto Guanche; Ganesan, Nandakumar; Ahmed, Shazia Nadeem N.; Al-Hajri, Mohammed; Al Thani, Shk. Mohammed Hamad J.; Al-Marri, Salih Ali; Ibrahim, Emad; Al-Romaihi, Hamad Eid

    2016-01-01

    Background: Salmonella is a food- and water-borne pathogen that can be easily spread in a population, leading to the outbreak of salmonellosis that is caused by ingestion of mixed salads contaminated by the pathogen. Most cases occur in the late spring months and can be seen as single cases, clusters, or episodes. Objective: The aim of this study was to describe the incidence and epidemiological characteristics of salmonellosis in the State of Qatar. Methods: This was a retrospective, descriptive study carried out in laboratory-confirmed cases of salmonellosis during 2004–2012 from all Salmonella surveillance centers. Therapeutic records of patients who were clinically suspected of having Salmonella diseases were analyzed. Initially, cases with typhoid fever were investigated in the laboratory by means of Widal agglutination tests, while non-typhoidal Salmonella diseases were determined based on culture technique. Results: The annual incident of salmonellosis cases were 12.3, 23.0, 30.3, 19.4, 15.3, 18.0, 22.7, 18.5, and 18.1 per 100,000 population in 2006–2011 and 2012, respectively. The number of salmonellosis cases was high among less than 2-year-old females and 3-year-old males. In addition, one-fourth of patients (27.7%) were Qatari when compared to other nationalities. A significant difference in age was found between Qatari (6.08 ± 12.28 years) and non-Qatari (15.04 ± 19.56 years) patients. Of the reported cases, 79.8% included the onset date of the first symptoms. Contact phone numbers were available for 94% of the cases but addresses were available for only 50.4% of cases. The time difference between onset of symptoms and diagnosis was 5.4 ± 5.7 days. The most frequent serotype reported were type b (41.9%), type d (26.9%), and type c1 (12.2%). Conclusion: The present surveillance data showed a high incidence of salmonellosis in Qatar that poses a serious public health problem. Special intervention and health awareness programs are required for

  1. Assessment of learning and study strategies of university students in Qatar using an Arabic translation of the Learning and Study Strategies Inventory.

    PubMed

    Alkhateeb, Haitham M; Nasser, Ramzi

    2014-06-01

    413 (119 men, 294 women) undergraduate university students in Qatar completed an Arabic version of the Learning and Study Strategies Inventory (LASSI) measuring Anxiety, Attitude, Concentration, Information Processing, Motivation, Self-testing, Selecting Main Ideas, Study Aids, Time Management, and Test Strategies. The students' learning and study strategies scores were similar to those reported in the literature. Factor analysis indicated the same general factors as in the original study. Internal consistency estimates ranged from .62 to .88. Nine of the 10 scales (i.e., all with the exception of the Study Aids) significantly correlated with students' GPAs. Scores obtained from these scales provide valid assessments of Qatar University students' use of learning and study strategies related to skill, will, and self-regulation components of strategic learning and also academic achievement. There also were statistically significant differences between higher and lower achieving students in their learning and study strategies. This study also explored the use of the LASSI as a predictive measure of academic achievement. Anxiety and test strategies were significant predictors of academic achievement as measured by students' GPA. PMID:25074313

  2. Teaching across Cultures: Canada and Qatar

    ERIC Educational Resources Information Center

    Prowse, Jacqueline; Goddard, J. Tim

    2010-01-01

    Findings from a comparative case study conducted in Canada and Qatar are presented in this article. The study examined the cultural context of a transnational post-secondary program offered by the Faculty of Business at a Canadian college, with campuses located in both St. John's and Doha. The instructors' perceptions of their students' cultures…

  3. Consanguinity and hereditary hearing loss in Qatar.

    PubMed

    Girotto, Giorgia; Mezzavilla, Massimo; Abdulhadi, Khalid; Vuckovic, Dragana; Vozzi, Diego; Khalifa Alkowari, Moza; Gasparini, Paolo; Badii, Ramin

    2014-01-01

    Qatar is a sovereign state located on the Eastern coast of the Arabian Peninsula in the Persian Gulf. Its native population consists of 3 major subgroups: people of Arabian origin or Bedouins, those from an Eastern or Persian ancestry and individuals with African admixture. Historically, all types of consanguineous marriages have been and still are common in the Qatari population, particularly among first and double-first cousins. Thus, there is a higher risk for most inherited diseases including hereditary hearing loss (HHL). In particular, a hearing loss prevalence of 5.2% has been reported in Qatar, with parental consanguinity being more common among affected individuals as compared with unaffected ones. Our recent molecular results confirm a high homogeneity and level of inbreeding in Qatari HHL patients. Among all HHL genes, GJB2, the major player worldwide, accounts for a minor proportion of cases and at least 3 additional genes have been found to be mutated in Qatari patients. Interestingly, one gene, BDP1, has been described to cause HHL only in this country. These results point towards an unexpected level of genetic heterogeneity despite the high level of inbreeding. This review provides an up-to-date picture of HHL in Qatar and of the impact of consanguinity on this disease. PMID:25060281

  4. Misoprostol use in medical evacuation of spontaneous miscarriage: Pilot drug use evaluation study at the Women's Hospital in Qatar

    PubMed Central

    ElSalem, Samah A.; AlSaad, Doua T.; Abdulrouf, Palli V.; Ahmed, Afif A.; AlHail, Moza S.

    2016-01-01

    Background: Misoprostol is a synthetic prostaglandin E1 that induces cervical effacement and uterine contractions at all gestational ages, thus facilitating uterine evacuation and pregnancy termination. Successful medical evacuation of spontaneous miscarriage with minimal adverse effects can be performed using misoprostol-only regimen if given as indicated and if the administered dose, frequency of the dosage, and number of total doses are appropriate. Aim: To conduct a drug use evaluation by investigating indications, appropriateness of dosing, and clinical outcome of misoprostol-only regimen when used for medical evacuation of spontaneous miscarriage at the Women's Hospital in Doha, Qatar. Materials and methods: A retrospective descriptive drug use evaluation was conducted on women with spontaneous miscarriage who received misoprostol for medical evacuation during August 2013. The current practice at the Women's Hospital was compared with the recommendation from the World Health Organization (WHO). Patients were stratified into three groups based on weeks of amenorrhea. Results: A total of 107 patients received misoprostol during August 2013, of which 33 (31%) were included in the study. In these patients, the main indication for misoprostol use was missed miscarriage (54.5%). In the group of patients at ≤ 9 weeks of gestation, 80% received an initial dose of 800 μg, 80% received frequency within the WHO recommendation, and the majority had surgical evacuation (80%). In the group of patients at 10–12 weeks of gestation, more than 80% received an initial dose of 800 μg, 6% received frequency within the WHO recommendation, and more than 75% had successful medical evacuation. In the group of patients at 13–22 weeks of gestation, more than 80% received an initial dose of 400 μg, more than 80% received frequency within the WHO recommendation, and 54% had successful medical evacuation. Overall, more than 70% of the patients received ≤ 3 total doses of

  5. Female Students' Experience in E-Learning: A Study from Qatar

    ERIC Educational Resources Information Center

    Robinson, Martha; Ally, Mohamed

    2010-01-01

    This article describes a study that examines female Arab students' experiences in a pilot eSchoolbag project. The project used a blended approach which combined face-to-face instruction with e-learning resources and strategies. The study found that educational values, English-language ability, and experience with computers emerged as structural…

  6. A preliminary report on the distribution of lizards in Qatar.

    PubMed

    Cogălniceanu, Dan; Castilla, Aurora M; Valdeón, Aitor; Gosá, Alberto; Al-Jaidah, Noora; Alkuwary, Ali; Saifelnasr, Essam O H; Mas-Peinado, Paloma; Richer, Renee; Al-Hemaidi, Ahmad Amer Mohd

    2014-01-01

    We have updated the list of the lizard species present in Qatar and produced the first distribution maps based on two field surveys in 2012 and 2013. We used the QND95/Qatar National Grid with a grid of 10 × 10 km squares for mapping. Our results show the occurrence of 21 lizard species in Qatar, from the 15 species indicated in the last biodiversity report conducted in 2004. The most abundant family found in Qatar is Gekkonidae with nine species (Bunopus tuberculatus, Cyrtopodion scabrum, Hemidactylus robustus, H. flaviviridis, H. persicus, Stenodactylus arabicus, S. slevini, S. doriae, Pseudoceramodactylus khobarensis), followed by Lacertidae with four species (Acanthodactylus schmidti, A. opheodurus, Mesalina brevirostris, M. adramitana), Agamidae with three species (Trapelus flavimaculatus, Uromastyx aegyptia, Phrynocephalus arabicus), Scincidae with two species (Scincus mitranus, Trachylepis septemtaeniata), and Varanidae (Varanus griseus), Sphaerodactylidae (Pristurus rupestris) and Trogonophiidae (Diplometopon zarudnyi) with one species each. The species richness fluctuated largely across Qatar between one and eleven species per grid square. We believe that the lizard fauna records in Qatar are still incomplete and that additional studies are required. However, our study here fills a gap concerning lizard biodiversity knowledge in the Gulf Region. PMID:24493961

  7. A preliminary report on the distribution of lizards in Qatar

    PubMed Central

    Cogălniceanu, Dan; Castilla, Aurora M; Valdeón, Aitor; Gosá, Alberto; Al-Jaidah, Noora; Alkuwary, Ali; Saifelnasr, Essam O. H.; Mas-Peinado, Paloma; Richer, Renee; Al-Hemaidi, Ahmad Amer Mohd

    2014-01-01

    Abstract We have updated the list of the lizard species present in Qatar and produced the first distribution maps based on two field surveys in 2012 and 2013. We used the QND95/Qatar National Grid with a grid of 10 × 10 km squares for mapping. Our results show the occurrence of 21 lizard species in Qatar, from the 15 species indicated in the last biodiversity report conducted in 2004. The most abundant family found in Qatar is Gekkonidae with nine species (Bunopus tuberculatus, Cyrtopodion scabrum, Hemidactylus robustus, H. flaviviridis, H. persicus, Stenodactylus arabicus, S. slevini, S. doriae, Pseudoceramodactylus khobarensis), followed by Lacertidae with four species (Acanthodactylus schmidti, A. opheodurus, Mesalina brevirostris, M. adramitana), Agamidae with three species (Trapelus flavimaculatus, Uromastyx aegyptia, Phrynocephalus arabicus), Scincidae with two species (Scincus mitranus, Trachylepis septemtaeniata), and Varanidae (Varanus griseus), Sphaerodactylidae (Pristurus rupestris) and Trogonophiidae (Diplometopon zarudnyi) with one species each. The species richness fluctuated largely across Qatar between one and eleven species per grid square. We believe that the lizard fauna records in Qatar are still incomplete and that additional studies are required. However, our study here fills a gap concerning lizard biodiversity knowledge in the Gulf Region. PMID:24493961

  8. Levels of radioactivity in Qatar

    SciTech Connect

    Al-Thani, A.A.; Abdul-Majid, S.; Mohammed, K.

    1995-12-31

    The levels of natural and man-made radioactivity in soil and seabed were measured in Qatar to assess radiation exposure levels and to evaluate any radioactive contamination that may have reached the country from fallout or due to the Chernobyl accident radioactivity release. Qatar peninsula is located on the Arabian Gulf, 4500 km from Chernobyl, and has an area of {approximately}11,600 km{sup 2} and a population of {approximately}600,000.

  9. Epidemiological review of scorpion stings in Qatar

    PubMed Central

    Alkahlout, Baha H.; Abid, Muhammad M.; Kasim, Mohammad M.; Haneef, Shumaila M.

    2015-01-01

    Objectives: To review the epidemiology of scorpion sting in Qatar, to explore both the clinical significance, and the role of the emergency department (ED) in the management of such cases. Methods: In this retrospective study, we reviewed the records of all scorpion sting cases presented to the ED of Hamad General Hospital, Doha, Qatar between October 2010 and May 2013. Results: A total of 111 cases of scorpion stings were reviewed, 81 (72.9%) were males and 30 (27.1%) were females, with a mean age of 38 years. Localized pain was the most frequent presenting complaint (89 [80.2%]), whereas localized redness (44 [39.6%]) and swelling (38 [34.2%]) were the most common clinical signs. Abroug’s classification was used, and all cases were found to be class I. All patients received symptomatic treatment and were sent home. Conclusion: Scorpion sting problem in Qatar has a low clinical significance. Data from such studies should be utilized to create more specific (local) management guidelines, which should be more efficient with more rational utilization of ED resources. PMID:26108591

  10. The Reform of Qatar University. Monograph

    ERIC Educational Resources Information Center

    Moini, Joy S.; Bikson, Tora K.; Neu, C. Richard; DeSisto, Laura

    2009-01-01

    In 2003, the State of Qatar engaged the RAND-Qatar Policy Institute to assist Qatar University, the nation's first and only public higher education institution, with reform of its major administrative and academic structures, policies, and practices. This monograph summarizes that reform effort, which formally lasted from October 2003 through…

  11. Mood disturbance and depression in Arab women following hospitalisation from acute cardiac conditions: a cross-sectional study from Qatar

    PubMed Central

    Donnelly, Tam Truong; Al Suwaidi, Jassim Mohd; Al-Qahtani, Awad; Asaad, Nidal; Fung, Tak; Singh, Rajvir; Qader, Najlaa Abdul

    2016-01-01

    Objectives Depression is associated with increased morbidity and mortality rates among cardiovascular patients. Depressed patients have three times higher risk of death than those who are not. We sought to determine the presence of depressive symptoms, and whether gender and age are associated with depression among Arab patients hospitalised with cardiac conditions in a Middle Eastern country. Setting Using a non-probability convenient sampling technique, a cross-sectional survey was conducted with 1000 Arab patients ≥20 years who were admitted to cardiology units between 2013 and 2014 at the Heart Hospital in Qatar. Patients were interviewed 3 days after admission following the cardiac event. Surveys included demographic and clinical characteristics, and the Arabic version of the Beck Depression Inventory Second Edition (BDI-II). Depression was assessed by BDI-II clinical classification scale. Results 15% of the patients had mild mood disturbance and 5% had symptoms of clinical depression. Twice as many females than males suffered from mild mood disturbance and clinical depression symptoms, the majority of females were in the age group 50 years and above, whereas males were in the age group 40–49 years. χ2 Tests and multivariate logistic regression analyses indicated that gender and age were statistically significantly related to depression (p<0.001 for all). Conclusions Older Arab women are more likely to develop mood disturbance and depression after being hospitalised with acute cardiac condition. Gender and age differences approach, and routine screening for depression should be conducted with all cardiovascular patients, especially for females in the older age groups. Mental health counselling should be available for all cardiovascular patients who exhibit depressive symptoms. PMID:27388362

  12. Clinical experience with insulin detemir, biphasic insulin aspart and insulin aspart in people with type 2 diabetes: Results from the Qatar cohort of the A1chieve study

    PubMed Central

    Daghash, Mohamed Hasan; Raja, Jabbar Mubarak; Milad, Mohamed

    2013-01-01

    Background: The A1chieve, a multicentric (28 countries), 24-week, non-interventional study evaluated the safety and effectiveness of insulin detemir, biphasic insulin aspart and insulin aspart in people with T2DM (n = 66,726) in routine clinical care across four continents. Materials and Methods: Data was collected at baseline, at 12 weeks and at 24 weeks. This short communication presents the results for patients enrolled from Qatar. Results: A total of 91 patients were enrolled in the study. Two insulin analogue regimens were used in the study. Study patients had started on or were switched to biphasic insulin aspart (n = 88), insulin detemir (n = 2), and other insulin combinations (n = 1). At baseline glycaemic control was poor for both insulin naïve (mean HbA1c: 10.9%) and insulin users (mean HbA1c: 9.1%) groups. After 24 weeks of treatment, all the study groups showed improvement in HbA1c (insulin naïve: −1.8%, insulin users: −1.3%). Major hypoglycaemia did not occur in the study patients. SADRs were reported in 1.4% of insulin users. Conclusion: Starting or switching to insulin analogues was associated with improvement in glycaemic control with a low rate of hypoglycaemia. PMID:24404484

  13. A Case Study On the Relative Influence of Free Tropospheric Subsidence, Long Range Transport and Local Production in Modulating Ozone Concentrations over Qatar

    NASA Astrophysics Data System (ADS)

    Ayoub, Mohammed; Ackermann, Luis; Fountoukis, Christos; Gladich, Ivan

    2016-04-01

    The Qatar Environment and Energy Research Institute (QEERI) operates a network of air quality monitoring stations (AQMS) around the Doha metropolitan area and an ozonesonde station with regular weekly launches and occasional higher frequency launch experiments (HFLE). Six ozonesondes were launched at 0700 LT/0400 UTC and 1300 LT/1000 UTC over a three day period between 10-12 September, 2013. We present the analysis of the ozonesonde data coupled with regional chemical transport modeling over the same time period using WRF-Chem validated against both the ozonesonde and surface AQMS measurements. The HFLE and modeling show evidence of both subsidence and transboundary transport of ozone during the study period, coupled with a strong sea breeze circulation on the 11th of September resulting in elevated ozone concentrations throughout the boundary layer. The development of the sea breeze during the course of the day and influence of the early morning residual layer versus daytime production is quantified. The almost complete titration of ozone in the morning hours of 11 September, 2013 is attributed to local vehicular emissions of NOx and stable atmospheric conditions prevailing over the Doha area. The relative contribution of long range transport of ozone along the Arabian Gulf coast and local urban emissions are discussed.

  14. Impact of noncommunicable diseases in the State of Qatar

    PubMed Central

    Al-Kaabi, Salma Khalaf; Atherton, Andrew

    2015-01-01

    This study, commissioned by the Supreme Council of Health in the State of Qatar, focuses on the main noncommunicable diseases (NCDs) globally and regionally, in order to gauge their potential impact on Qatar. The research shows that the Gulf Cooperation Council is projected to be affected dramatically by NCDs in the coming years. The top five NCDs that will affect Qatar in terms of economic burden and disability-adjusted life years are cardiovascular diseases, mental health and behavioral disorders, cancer, respiratory diseases, and diabetes. Whilst these diseases have diverse effects on patients, their causes can be traced to “… common lifestyle-related, or behavioral, risk factors such as tobacco use, a diet heavy in fat, and physical inactivity”. The total direct and indirect costs to the Gulf Cooperation Council calculated for the above five NCDs were $36.2 billion in 2013, which equates to 150% of the officially recorded annual health care expenditure. If this trajectory is maintained, spending per head of population in Qatar will reach $2,778 by 2022. These figures demonstrate not only the potential financial impact of the main NCDs, but also give an idea of how the current health system is working to address them. PMID:26170702

  15. Qatar Peninsula, United Arab Emirates, Persian Gulf

    NASA Technical Reports Server (NTRS)

    1983-01-01

    In this view of the Qatar Peninsula, United Arab Emirates, Persian Gulf, (25.0N, 51.0E) a large oil spill, seen as a large dark toned mass in the water covers much of the surface of the western Persian Gulf. Qatar is one of several of the oil rich United Arab Emirate states. Oil spills and oil pollution of the environment are common occurrances associated with oil tanker loading operations.

  16. A market basket survey of As, Zn and Se in rice imports in Qatar: health implications.

    PubMed

    Rowell, Candace; Kuiper, Nora; Al-Saad, Khalid; Nriagu, Jerome; Shomar, Basem

    2014-08-01

    Qatar is dependent on importation of rice, its staple dish, and is therefore susceptible to compromises of food quality in the global market. This market basket study assesses potential health risks of As exposure from rice consumption in Qatar and examines its contribution to the recommended nutritional intakes (RNI) for Zn and Se. Fifty-six rice types and 12 products sold in Qatar were analyzed by ICP/MS. Mean concentrations and ranges were 96.2±54.1μg/kg (9.76-258μg/kg) for As; 12.5±5.35mg/kg (2.79-29.9mg/kg) for Zn and 103±113μg/kg (<5.94-422μg/kg) for Se. Calculated risk quotient shows rice consumption in Qatar is not a significant route of As exposure but can contribute up to 100% and 50% of the RNI for Se and Zn, respectively. Results indicate that children in Qatar may be at elevated risk of arsenic exposure from rice-based infant cereals but more data is needed to obtain a definitive assessment. PMID:24813761

  17. Do socioeconomic factors influence breast cancer screening practices among Arab women in Qatar?

    PubMed Central

    Donnelly, Tam Truong; Al Khater, Al-Hareth; Al Kuwari, Mohamed Ghaith; Al-Bader, Salha Bujassoum; Al-Meer, Nabila; Abdulmalik, Mariam; Singh, Rajvir; Chaudhry, Sofia; Fung, Tak

    2015-01-01

    Objectives Breast cancer incidence rates are rising in Qatar. Although the Qatari government provides subsidised healthcare and screening programmes that reduce cost barriers for residents, breast cancer screening (BCS) practices among women remain low. This study explores the influence of socioeconomic status on BCS among Arab women in Qatar. Setting A multicentre, cross-sectional quantitative survey was conducted with 1063 Arab women (87.5% response rate) in Qatar from March 2011 to July 2011. Women who were 35 years or older and had lived in Qatar for at least 10 years were recruited from seven primary healthcare centres and women's health clinics in urban and semiurban regions of Qatar. Associations between socioeconomic factors and BCS practice were estimated using χ2 tests and multivariate logistic regression analyses. Results Findings indicate that less than one-third of the participants practised BCS appropriately, whereas less than half of the participants were familiar with recent BCS guidelines. Married women and women with higher education and income levels were significantly more likely to be aware of and to practise BCS than women who had lower education and income levels. Conclusions Findings indicate low levels of awareness and low participation rates in BCS among Arab women in Qatar. Socioeconomic factors influence these women's participation in BCS activities. The strongest predictors for BCS practice are higher education and higher income levels. Recommendations Additional research is needed to explore the impact of economic factors on healthcare seeking behaviours in the Middle Eastern countries that have a high national gross domestic product where healthcare services are free or heavily subsidised by the government; promotion of BCS and intervention strategies in these countries should focus on raising awareness about breast cancer, the cost and benefit of early screening for this disease, particularly among low-income women. PMID

  18. Identification of wind fields for wave modeling near Qatar

    NASA Astrophysics Data System (ADS)

    Nayak, Sashikant; Balan Sobhana, Sandeepan; Panchang, Vijay

    2016-04-01

    Due to the development of coastal and offshore infrastructure in and around the Arabian Gulf, a large semi-enclosed sea, knowledge of met-ocean factors like prevailing wind systems, wind generated waves, and currents etc. are of great importance. Primarily it is important to identify the wind fields that are used as forcing functions for wave and circulation models for hindcasting and forecasting purposes. The present study investigates the effects of using two sources of wind-fields on the modeling of wind-waves in the Arabian Gulf, in particular near the coastal regions of Qatar. Two wind sources are considered here, those obtained from ECMWF and those generated by us using the WRF model. The wave model SWAN was first forced with the 6 hourly ERA Interim daily winds (from ECMWF) having spatial resolution of 0.125°. For the second option, wind fields were generated by us using the mesoscale wind model (WRF) with a high spatial resolution (0.1°) at every 30 minute intervals. The simulations were carried out for a period of two months (7th October-7th December, 2015) during which measurements were available from two moored buoys (deployed and operated by the Qatar Meteorological Department), one in the north of Qatar ("Qatar North", in water depth of 58.7 m) and other in the south ("Shiraouh Island", in water depth of 16.64 m). This period included a high-sea event on 11-12th of October, recorded by the two buoys where the significant wave heights (Hs) reached as high as 2.9 m (i.e. max wave height H ~ 5.22 m) and 1.9 (max wave height H ~ 3.4 m) respectively. Model results were compared with the data for this period. The scatter index (SI) of the Hs simulated using the WRF wind fields and the observed Hs was found to be about 30% and 32% for the two buoys (total period). The observed Hs were generally reproduced but there was consistent underestimation. (Maximum 27% for the high-sea event). For the Hs obtained with ERA interim wind fields, the underestimation was

  19. Prevention of type II diabetes mellitus in Qatar: Who is at risk?

    PubMed Central

    Christos, Paul J; Chemaitelly, Hiam; Abu-Raddad, Laith J; Ali Zirie, Mahmoud; Deleu, Dirk; Mushlin, Alvin I

    2014-01-01

    Background: Type II diabetes mellitus (DM) is one of the leading chronic diseases in Qatar as well as worldwide. However, the risk factors for DM in Qatar and their prevalence are not well understood. We conducted a case-control study with the specific aim of estimating, based on data from outpatients with DM in Qatar (cases) and outpatient/inpatient controls, the association between demographic/lifestyle factors and DM. Methods: A total of 459 patients with DM from Hamad General Hospital (HGH) outpatient adult diabetes clinics, and 342 control patients from various outpatient clinics and inpatient departments within Hamad Medical Corporation (HMC) (years 2006–2008), were recruited. The association between risk factors and DM was evaluated using bivariate and multivariable logistic regression analyses. In addition to odds ratios (OR) and 95% confidence intervals (95% CI), we estimated the population attributable risk fractions for the DM demographic/lifestyle risk factors. Results: Qatari nationality was the strongest risk factor for DM (adjusted OR = 5.5; 95% CI = 3.5–8.6; p < 0.0001), followed by higher monthly income (defined as ≥ 3000 Qatari Riyals, adjusted OR = 5.1; 95% CI = 3.0–8.7; p < 0.0001), age >65 years (adjusted OR = 3.3; 95% CI = 0.9–11.4; p = 0.06), male gender (adjusted OR = 2.9; 95% CI = 1.8-4.8; p < 0.0001), obesity (BMI ≥ 30, adjusted OR = 2.2; 95% CI = 1.5-3.2; p < 0.0001), no college education (adjusted OR = 1.7; 95% CI = 1.2–2.6; p = 0.009), and no daily vigorous/moderate activity (adjusted OR = 1.5; 95% CI = 0.9–2.3; p = 0.12). Among Qatari nationals, obesity was found to be the main risk factor for DM (unadjusted OR = 3.0; 95% CI = 1.6–5.6; p < 0.0001), followed by no college education (unadjusted OR = 2.7; 95% CI = 1.5–5.1; p = 0.001), while consanguinity did not appear to play a major role in predicting DM (unadjusted OR = 1.5; 95% CI = 0.8–2.8; p = 0

  20. Alignment of Teacher-Developed Curricula and National Standards in Qatar's National Education Reform

    ERIC Educational Resources Information Center

    Nasser, Ramzi; Zaki, Eman; Allen, Nancy; Al Mula, Badria; Al Mutawaha, Fatma; Al Bin Ali, Hessa; Kerr, Tricia

    2014-01-01

    This study investigated the degree to which teacher developed curriculum was aligned with the national standards in Qatar. Three sources of data included teacher response to a questionnaire, teacher interviews and expert rating of the alignment of teacher-developed materials with curriculum standards. A survey and interview questions measured…

  1. Adequacy, Accountability, Autonomy and Equity in a Middle Eastern School Reform: The Case of Qatar

    ERIC Educational Resources Information Center

    Guarino, Cassandra M.; Tanner, Jeffery C.

    2012-01-01

    This study examines Qatar's recent and ambitious school reform in the early stages of its implementation against a set of four criteria for successful education systems drawn from guidelines developed by the international community: adequacy, accountability, autonomy and gender equity. We investigate both the initial structure of the reform and…

  2. Exploring the Relationship between Organizational Learning and Career Resilience among Faculty Members at Qatar University

    ERIC Educational Resources Information Center

    Abu-Tineh, Abdullah M.

    2011-01-01

    Purpose: Two main purposes guide this study. The first is to assess the level of individual, group, and organizational learning at Qatar University (QU), and the level of career resilience among its faculty members. The second is to explore the relationships between these levels of learning at QU and the career resilience of its faculty members.…

  3. Qatar's K-12 Education Reform Has Achieved Success in Its Early Years. Research Brief

    ERIC Educational Resources Information Center

    Larson, Judy

    2009-01-01

    To evaluate progress made in the first years of Qatar's implementation of K-12 education reform, RAND analyzed data from school-level observations, national surveys, and national student assessments. The study found that students in the new, Independent schools were performing better than those in Ministry schools, and there was greater student…

  4. Mothers' Perceptions of the Treatment of Their Children with Disabilities in Qatar

    ERIC Educational Resources Information Center

    Kay, Alyn K.

    2011-01-01

    This article constitutes one part of a study of the perceptions of mothers of children with disabilities in Qatar with the purpose of obtaining mothers' unique perceptions of treatment of their children within their community. Participants included 40 mothers of one or more children with disabilities from ages 4 to 19 who attended the same…

  5. New Cultures of Critical Reflection in Qatar

    ERIC Educational Resources Information Center

    McNiff, Jean

    2011-01-01

    We speak about the need for critical reflection on practice, but what do we do when we do it; and how do we explain how and why we should do it? This paper explores these issues, and itself acts as the site for an exploration and explanation of what it means to be critically reflective. Drawing on recent research in Qatar, I give an account of how…

  6. Kuwait Oil Fires, Persian Gulf, Qatar Peninsula

    NASA Technical Reports Server (NTRS)

    1991-01-01

    This view up the Persian Gulf from the Qatar Peninsula into southern Iraq (25.5N, 51.0E) shows an excursion of the smoke plumes from the Kuwait oil fires set during the short Persian Gulf War. Smoke from the fires north of Kuwait City, extends across the Persian Gulf while a larger smoke plume from the southern fires heads into southern Saudi Arabia before beginning to spread out and become more diffuse.

  7. Perception of aging and ageism among women in Qatar.

    PubMed

    Musaiger, Abdulrahman O; D'Souza, Reshma; Al-Roomi, Khaldoon

    2013-01-01

    The objective of this study was to find out the perceptions of age and aging among women in Qatar. Respondents consisted of 250 women aged between 20 and 70 years, selected from those attending the health centers in Doha city, the capital of Qatar. They were interviewed using a pretested validated questionnaire, and data were collected through direct face-to-face interviews using the incidental sampling method. It was found that physical appearance and mental alertness were the most important criteria for defining aging in men and women. A statistically significant association was found between age of respondents and physical criteria for aging such as hair color (p < .000) in women and body image in men (p < .0298). As for aging characteristics, decreasing hearing ability (p < .000), performance as before (p < .004), more irritability (p < .0227), ability to travel alone (p < .0429), needs check up (p < .001), and needs a geriatric home (p < .001) were statistically associated with age of women studied. Both positive (socializing factors, independence, housework, retirement, and geriatric care) and negative stereotyping (care for self, learning capabilities, irritability, and worries) with regard to aging were evident among the Qatari women. In general, Qatari women had several positive attitudes toward aging. Such attitudes could be utilized in any health promotion for elderly people. PMID:23767841

  8. Cystic fibrosis in a large kindred family in Qatar.

    PubMed

    Abdul Wahab, A; Dawod, S T; al Thani, G

    2000-09-01

    We describe 45 patients with cystic fibrosis (CF), diagnosed between June 1987 and May 1999, seen at the Hamad Medical Corporation, Qatar in the Arabian Gulf. Twenty-six of 32 families in the study were related and belonged to the same Bedouin tribe. The parents of 98% of these cases were consanguineous. Metabolic alkalosis and/or hypo-electrolytaemia were found in a large proportion of infants with CF. Cystic fibrosis in Qatari children is phenotypically variable with mild to moderate respiratory symptoms, and none of them died during this study. Among the non-Arabic-Asian patients, pulmonary symptoms were more severe, Pseudomonas colonization was earlier, pancreatic insufficiency occurred in infancy and four died in early life. PMID:11064773

  9. Controlling residential water demand in Qatar: an assessment.

    PubMed

    Al-Mohannadi, Hassan I; Hunt, Chris O; Wood, Adrian P

    2003-08-01

    Qatar has serious water resource problems, following rapid socioeconomic development and massive population increase. Municipal water provision depends on costly and unsustainable desalination. There is little regulation. Native Qataris do not pay a water tariff and migrants pay a subsidized price--approximately one third of the cost of production--so there is little awareness of the true cost of water and use is profligate. This paper discusses trends in water use and identifies issues underlying sustainable water use in Qatar. A questionnaire of respondents chosen to represent Qatari social groups measured awareness and attitudes to water. The results show that previous efforts to control water demand in Qatar, using awareness campaigns, legal restrictions and tariffs, have been ineffectual. The questionnaire evaluated reactions to possible measures to limit uses by raising awareness, using legal restrictions and raising tariffs. From this, a number of policy changes can be suggested, to bring Qatar's water industry towards sustainability. PMID:14571967

  10. Remote sensing of Qatar nearshore habitats with perspectives for coastal management.

    PubMed

    Warren, Christopher; Dupont, Jennifer; Abdel-Moati, Mohamed; Hobeichi, Sanaa; Palandro, David; Purkis, Sam

    2016-04-30

    A framework is proposed for utilizing remote sensing and ground-truthing field data to map benthic habitats in the State of Qatar, with potential application across the Arabian Gulf. Ideally the methodology can be applied to optimize the efficiency and effectiveness of mapping the nearshore environment to identify sensitive habitats, monitor for change, and assist in management decisions. The framework is applied to a case study for northeastern Qatar with a key focus on identifying high sensitivity coral habitat. The study helps confirm the presence of known coral and provides detail on a region in the area of interest where corals have not been previously mapped. Challenges for the remote sensing methodology associated with natural heterogeneity of the physical and biological environment are addressed. Recommendations on the application of this approach to coastal environmental risk assessment and management planning are discussed as well as future opportunities for improvement of the framework. PMID:26632526

  11. Radioactivity levels in the marine environment along the Exclusive Economic Zone (EEZ) of Qatar.

    PubMed

    Al-Qaradawi, Ilham; Abdel-Moati, Mohamed; Al-Yafei, Mohsin Al-Ansi; Al-Ansari, Ebrahim; Al-Maslamani, Ibrahim; Holm, Elis; Al-Shaikh, Ismail; Mauring, Alexander; Pinto, Primal V; Abdulmalik, Dana; Amir, Amina; Miller, Mark; Yigiterhan, Oguz; Persson, Bertil

    2015-01-15

    A study on (137)Cs, (40)K, (226)Ra, (228)Ra, and (238)U was carried out along the EEZ of Qatar. Results serve as the first ever baseline data. The level of (137)Cs (mean value 1.6 ± 0.4 Bq m(-3)) in water filters was found to be in the same order of magnitude as reported by others in worldwide marine radioactivity studies. Results are also in agreement with values reported from other Gulf regions. The computed values of sediment-water distribution coefficients Kd, are lower than the values given by IAEA. Measurements were carried out for bottom sediments, biota samples like fish, oyster, sponge, seashell, mangrove, crab, shrimp, starfish, dugong and algae. The 'concentration factors' reported for biota samples are below the levels published by IAEA and cause no significant impact on human health for seafood consumers in Qatar. PMID:25480154

  12. Genetic studies in alcohol research

    SciTech Connect

    Karp, R.W.

    1994-12-15

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) supports research to elucidate the specific genetic factors, now largely unknown, which underlie susceptibility to alcoholism and its medical complications (including fetal alcohol syndrome). Because of the genetic complexity and heterogeneity of alcoholism, identification of the multiple underlying factors will require the development of new study designs and methods of analysis of data from human families. While techniques of genetic analysis of animal behavioral traits (e.g., targeted gene disruption, quantitative trait locus (QTL) mapping) are more powerful that those applicable to humans (e.g., linkage and allelic association studies), the validation of animal behaviors as models of aspects of human alcoholism has been problematic. Newly developed methods for mapping QTL influencing animal behavioral traits can not only permit analyses of human family data to be directly informed by the results of animal studies, but can also serve as a novel means of validating animal models of aspects of alcoholism. 55 refs.

  13. Adequacy, accountability, autonomy and equity in a Middle Eastern school reform: The case of Qatar

    NASA Astrophysics Data System (ADS)

    Guarino, Cassandra M.; Tanner, Jeffery C.

    2012-04-01

    This study examines Qatar's recent and ambitious school reform in the early stages of its implementation against a set of four criteria for successful education systems drawn from guidelines developed by the international community: adequacy, accountability, autonomy and gender equity. We investigate both the initial structure of the reform and its sustainability in light of concerns that movements in these directions might be politically unfeasible. To some degree, these concerns are substantiated by the developments we trace. However, it is important to note that the reform has changed the landscape of primary and secondary education in Qatar and that many reform principles, though diluted, have been retained. This paper highlights lessons learned - both hopeful and cautionary - in the first few years of reform and presents a methodology for evaluating progress along key dimensions that can be applied to school systems in many nations.

  14. Emergence of multidrug-resistant Acinetobacter baumannii producing OXA-23 Carbapenemase in Qatar.

    PubMed

    Rolain, J-M; Loucif, L; Al-Maslamani, M; Elmagboul, E; Al-Ansari, N; Taj-Aldeen, S; Shaukat, A; Ahmedullah, H; Hamed, M

    2016-05-01

    The objective of our study was to describe the molecular support of carbapenem resistance from randomly selected clinical isolates of multidrug-resistant (MDR) Acinetobacter baumannii as a pilot study from the Hamad Medical Corporation (HMC), Qatar. Results of our report will be used to study carbapenemases using molecular techniques in all isolated MDR A. baumannii. Forty-eight MDR A. baumannii were randomly selected from isolates preserved at HMC. Identification of all isolates was confirmed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Antibiotic resistance was tested phenotypically by Phoenix and confirmed by Etest. The molecular support of carbapenemases (bla OXA-23, bla OXA-24, bla OXA-58, bla NDM) was investigated by real-time PCR. The epidemiologic relatedness of the isolates was verified by phylogenetic analysis based on partial sequences of CsuE and bla OXA-51 genes. All 48 isolates were identified as A. baumannii and were confirmed to be resistant to most antibiotics, especially meropenem, imipenems, ciprofloxacin, levofloxacin, amikacin, gentamicin and most of the β-lactams; they were sensitive to colistin. All the isolates were positive for bla OXA-23 and negative for the other tested carbapenemase genes. Clonality analysis demonstrated that different lineages were actually circulating in Qatar; and we suggest that an outbreak occurred in the medical intensive care unit of HMC between 2011 and 2012. Here we report the emergence of MDR A. baumannii producing the carbapenemase OXA-23 in Qatar. PMID:27054039

  15. [Genetic study of allergic diseases].

    PubMed

    Zhang, Yuan; Zhang, Luo

    2012-09-01

    Allergic diseases mentioned in this review is regarding to I type allergic inflammation induced by an IgE-mediated reaction, including asthma, allergic rhinitis, atopic dermatitis and food allergy. It is convinced that allergic diseases belong to multiple genes diseases and are controlled by both genetic and environmental factors. Meanwhile there exists gene-gene as well as gene-environment interactions during the development of the disease. The aim of this review is to summarize the toolkit, advance, inherent difficulties and future clinical application prospect in genetic studies of allergic disease. PMID:23214325

  16. Prevalence of Online Reading among High School Students in Qatar: Evidence from the Programme for International Student Assessment 2009

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2014-01-01

    Recent research has suggested presence of a significant relationship between prevalence of online reading and reading literacy. In this study we examined the prevalence of online reading among 15-year old students in Qatar using a nationally representative sample of 8,089 students. Bivariate and multivariate analyses were conducted at the item and…

  17. The private-public literacy divide amid educational reform in Qatar: What does PISA tell us?

    NASA Astrophysics Data System (ADS)

    Cheema, Jehanzeb R.

    2015-04-01

    The education system in Qatar comprises of both private schools, which receive money through student fees, and public schools, which are fully government-funded. In the mid-2000s, Qatar started its transition towards an independent school model with the aim of eventually converting all public schools into government-supported independent schools. The idea was to give public schools more autonomy in terms of hiring decisions, adoption of curriculum and textbooks, and budget spending, enabling them to emulate some of the private schools' strategies for turning out successful students. This study examines evidence from the 2006-2012 administrations of the Program for International Student Assessment (PISA) in Qatar in order to evaluate whether or not recent educational reform efforts in this country have succeeded in bridging the literacy divide between private and public schools. The results, presented in a number of detailed tables and discussed in the last part of the article, indicate that there is a significant difference in key literacy skills between the two types of schools. Private schools were found to outperform their public counterparts in areas such as mathematics, reading and science, both before and after controlling for important student-level differences, and this gap has evidently persisted from 2006 to 2012.

  18. Qatar's School Transportation System: Supporting Safety, Efficiency, and Service Quality. Monograph

    ERIC Educational Resources Information Center

    Henry, Keith; Younossi, Obaid; Al-Dafa, Maryah; Culbertson, Shelly; Mattock, Michael G.; Light, Thomas; Rohr, Charlene

    2012-01-01

    In consideration of the many challenges associated with Qatar's continued growth and demographic changes, the government of Qatar is interested in updating its school transportation system (STS). This volume assesses the perspectives of parents and school administrators on Qatar's STS, identifies a vision and goals for the STS, reviews…

  19. An assessment of Qatar's coral communities in a regional context.

    PubMed

    Burt, John A; Smith, Edward G; Warren, Christopher; Dupont, Jennifer

    2016-04-30

    Qatar's once extensive coral communities have undergone considerable change in recent decades. We quantitatively surveyed three coral assemblages in Qatar to assess current status, and compared these against 14 sites in Bahrain and the United Arab Emirates to evaluate Qatar in a larger biogeographic context. Umm Al-Arshan had the highest species richness of 17 sites examined in the southern Arabian Gulf, as well as the highest coral cover and the only Acropora observed on sites in Qatar. Coral cover and richness were more modest at Fuwayrit and Al-Ashat, reflecting greater impacts from earlier stress events. Two distinct communities were identified across the southern Gulf, with Umm Al-Arshan clustering with high-cover, mixed merulinid/poritid assemblages that were less impacted by earlier bleaching and long-term stress, while Fuwayrit and Al-Ashat grouped with a lower-cover, stress-tolerant community characteristic of more extreme environments in the southern Gulf. We recommend implementation of a nation-wide baseline assessment of coral communities to guide development of an MPA network and long-term coral monitoring program for Qatar. PMID:26410180

  20. Oil slicks off the coast of Qatar, Persian Gulf

    NASA Technical Reports Server (NTRS)

    1983-01-01

    A detailed view the port facility of Musay'id on the Qatar Peninsula, United Arab Emirates, Persian Gulf (25.0N, 52.5E). Part of a large oil spill seen as a dark toned mass in the water, covering much of the surface of the western Persian Gulf, has moved offshore in this scene. Qatar is one of several of the oil rich United Arab Emirate states. Oil spills and oil pollution of the environment commonly occur in oil tanker operations.

  1. Assessment of the 10-year risk of coronary heart disease events for Qatar Petroleum's firefighters and non-firefighter staff in Qatar.

    PubMed

    Mochtar, I; Hooper, R W

    2012-02-01

    Coronary heart disease is a major public health problem worldwide and firefighters may be at particular occupational risk. In a cross-sectional study in Ras Laffan Industrial City, Qatar, we assessed the 10-year risk of coronary heart disease events for 369 Qatar Petroleum staff at their periodic medical examination. The subjects of the study (all males) were divided into firefighters and non-firefighters groups. Based on the Framingham risk score calculations, 69.9% of the subjects were categorized as low risk, 27.1% as intermediate risk and 2.9% as high risk. None of the firefighters was categorized as high risk, 15.5% were intermediate and the rest were low risk. In the whole group, low high-density lipoprotein cholesterol was the most prevalent risk factor (68.8%), followed by hypertension (32.0%) and smoking (15.4%). The mean risk of developing coronary heart disease in firefighters [6.5% (SD 3.7%)] was significantly lower than in non-firefighters 19.5% (SD 6.5%)]. PMID:22571088

  2. Studies in genetic discrimination. Final progress report

    SciTech Connect

    Not Available

    1994-06-01

    We have screened 1006 respondents in a study of genetic discrimination. Analysis of these responses has produced evidence of the range of institutions engaged in genetic discrimination and demonstrates the impact of this discrimination on the respondents to the study. We have found that both ignorance and policy underlie genetic discrimination and that anti-discrimination laws are being violated.

  3. A Perspective on Student Learning Outcome Assessment at Qatar University

    ERIC Educational Resources Information Center

    Al-Thani, Shaikha Jabor; Abdelmoneim, Ali; Daoud, Khaled; Cherif, Adel; Moukarzel, Dalal

    2014-01-01

    This paper provides a unique perspective on the student learning outcome assessment process as adopted and implemented at Qatar University from 2006 to 2012. The progress of the student learning outcome assessment and continuous improvement efforts at the university and the initiatives taken to establish a culture of assessment and evidence-based…

  4. Prevalence of dental caries among 12–14 year old children in Qatar

    PubMed Central

    Al-Darwish, Mohammed; El Ansari, Walid; Bener, Abdulbari

    2014-01-01

    Background To ensure the oral health of a population, clinicians must deliver appropriate dental services, and local communities need to have access to dental care facilities. However, establishment of this infrastructure must be based on reliable information regarding disease prevalence and severity in the target population. Objectives The aims of this study were to measure the incidence of dental caries in school children aged 12–14 throughout Qatar, including the influence of socio-demographic factors. Materials and methods A cross-sectional study was conducted in Qatar from October 2011 to March 2012. A total of 2113 children aged 12–14 were randomly selected from 16 schools located in different geographic areas. Three calibrated examiners using World Health Organization (WHO) criteria to diagnose dental caries performed the clinical examinations. Data analyses were subsequently conducted. Results The mean decayed, missing, and filled teeth index values were respectively 4.62 (±3.2), 4.79 (±3.5), and 5.5 (±3.7), for 12, 13, and 14 year-old subjects. Caries prevalence was 85%. The mandibular incisors and canines were least affected by dental caries, while maxillary and mandibular molars exhibited the highest incidence of dental caries. Dental caries were affected by socio-demographic factors; significant differences were detected between female and male children, where more female children showed dental caries than male children. In addition, children residing in semi-urban areas showed more dental caries than in urban areas. Conclusion Results indicated that dental caries prevalence among school children in Qatar has reached critical levels, and is influenced by socio-demographic factors. The mean decayed, missing, and filled teeth values obtained in this study were the second highest detected in the Eastern Mediterranean region. PMID:25057232

  5. Emergence of multidrug-resistant Acinetobacter baumannii producing OXA-23 Carbapenemase in Qatar

    PubMed Central

    Rolain, J.-M.; Loucif, L.; Al-Maslamani, M.; Elmagboul, E.; Al-Ansari, N.; Taj-Aldeen, S.; Shaukat, A.; Ahmedullah, H.; Hamed, M.

    2016-01-01

    The objective of our study was to describe the molecular support of carbapenem resistance from randomly selected clinical isolates of multidrug-resistant (MDR) Acinetobacter baumannii as a pilot study from the Hamad Medical Corporation (HMC), Qatar. Results of our report will be used to study carbapenemases using molecular techniques in all isolated MDR A. baumannii. Forty-eight MDR A. baumannii were randomly selected from isolates preserved at HMC. Identification of all isolates was confirmed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Antibiotic resistance was tested phenotypically by Phoenix and confirmed by Etest. The molecular support of carbapenemases (blaOXA-23, blaOXA-24, blaOXA-58, blaNDM) was investigated by real-time PCR. The epidemiologic relatedness of the isolates was verified by phylogenetic analysis based on partial sequences of CsuE and blaOXA-51 genes. All 48 isolates were identified as A. baumannii and were confirmed to be resistant to most antibiotics, especially meropenem, imipenems, ciprofloxacin, levofloxacin, amikacin, gentamicin and most of the β-lactams; they were sensitive to colistin. All the isolates were positive for blaOXA-23 and negative for the other tested carbapenemase genes. Clonality analysis demonstrated that different lineages were actually circulating in Qatar; and we suggest that an outbreak occurred in the medical intensive care unit of HMC between 2011 and 2012. Here we report the emergence of MDR A. baumannii producing the carbapenemase OXA-23 in Qatar. PMID:27054039

  6. Oral health knowledge, behaviour and practices among school children in Qatar

    PubMed Central

    Al-Darwish, Mohammed Sultan

    2016-01-01

    Background: The aim of this study was to assess the oral health knowledge behaviour and practices among school children in Qatar. Materials and Methods: A cross-sectional study was carried out in Qatar from October 2011 to April 2012. A total of 2200 school children aged 12–14 years were approached from 16 schools of different areas. The information about oral health knowledge and sources of information was obtained through a self-administrated questionnaire. Data analyses were performed. Results: The overall response rate was (96%). Only (25.8%) of children reported a high level of oral health knowledge. After each meal, tooth brushing was observed by a very low percentage of children (3.7%). About 44.6% of children recognized dental floss as a cleaning device for between the teeth. A large number of children (32.5%) thought incorrectly that one must visit the dentist only in case of pain. A great majority was not aware of cariogenic potential of soft drinks (39%) and sweetened milk (97.8%). Less than half (38.9%) of children actually had heard about fluoride. Only (16.8%) correctly answered the question about sign of tooth decay. Slightly, less than half (48.4%) could not define the meaning of plaque. Parents were the most popular (69.1%), source of oral health information for the children. Conclusion: The oral health knowledge in Qatar is below the satisfactory level. Parents were the most popular source of oral health knowledge for the children followed by dentists, school teachers, and media. PMID:27605993

  7. Twenty years of sedimentary change and diagenesis, Qatar Peninsula, Arabian Gulf

    SciTech Connect

    Shinn, E.A.

    1988-01-01

    Re-examination in February 1986 of areas studied by the author in 1966 and 1967 revealed rapid rates of sedimentation and diagenesis along the east coast of the Qatar Peninsula. At Ras UmSa on the northeast side of Qatar, a series of chenier-like beaches and curved spits is building southward under the influence of longshore currents. Beach and spit growth increasingly protects the shoreline and allows tidal flats to form in their lee. As these spits accrete, they become armored on their lagoonal side by beachrock formation. In the last 20 years a spit approximately 1/2 km long has grown, and beachrock has already armored its recurved lagoonal side. At Umm Said on the southeast side of Qatar, seawardly accreting barchan dunes composed of quartz sand have built a 40-km long, 10-km wide sabkha as thick as 30 m. Aerial and ground photographs show that certain dunes near the seaward edge of the sabkha have migrated into the sea and have contributed to shoreline accretion. The observed rate of dune migration suggests that within approximately 100 years the remaining quartz sands are depleted and blown into the sea because there is no replenishment of the dune field. Subsequently, the area reverts to one of carbonate deposition. Fine-grained dolomite is presently precipitating in interstitial brines in the landwardmost portions of this unusual sabkha. In the geologic record, such a deposit would be an anomalous, porous and permeable, cross-bedded, linear, 30-m thick, dolomite-cemented sandstones body encased in carbonate sediments. A modern model such as the one at Umm Said can provide useful clues for determining the origin of similar deposits in ancient rocks.

  8. Twenty years of sedimentary change and diagenesis, Qatar Peninsula, Arabian Gulf

    SciTech Connect

    Shinn, E.A.

    1988-02-01

    Re-examination in February 1986 of areas studied by the author in 1966 and 1967 revealed rapid rates of sedimentation and diagenesis along the east coast of the Qatar Peninsula. At Ras Um Sa on the north-east side of Qatar, a series of chenier-like beaches and curved spits is building southward under the influence of longshore currents. Beach and spit growth increasingly protects the shoreline and allows tidal flats to form in their lee. As these spits accrete, they become armored on their lagoonal side by beachrock formation. In the last 20 years a spit approximately 1/2 km long has grown, and beachrock has already armored its recurved lagoonal side. At Umm Said on the southeast side of Qatar, seawardly accreting barchan dunes composed of quartz sand have built a 40-km long, 10-km wide sabkha as thick as 30 m. Aerial and ground photographs show that certain dunes near the seaward edge of the sabkha have migrated into the sea and have contributed to shoreline accretion. The observed rate of dune migration suggests that within approximately 100 years the remaining quartz sands will be depleted and blown into the sea because there is no replenishment of the dune field. Subsequently, the area will revert to one of carbonate deposition. Fine-grained dolomite is presently precipitating in interstitial brines in the landwardmost portions of this unusual sabkha. In the geologic record, such a deposit would be an anomalous, porous and permeable, cross-bedded, linear, 30-m thick, dolomite-cemented sandstone body encased in carbonate sediments. A modern model such as the one at Umm Said can provide useful clues for determining the origin of similar deposits in ancient rocks.

  9. Quantitative genetic studies of antisocial behaviour.

    PubMed

    Viding, Essi; Larsson, Henrik; Jones, Alice P

    2008-08-12

    This paper will broadly review the currently available twin and adoption data on antisocial behaviour (AB). It is argued that quantitative genetic research can make a significant contribution to further the understanding of how AB develops. Genetically informative study designs are particularly useful for investigating several important questions such as whether: the heritability estimates vary as a function of assessment method or gender; the relative importance of genetic and environmental influences varies for different types of AB; the environmental risk factors are truly environmental; and genetic vulnerability influences susceptibility to environmental risk. While the current data are not yet directly translatable for prevention and treatment programmes, quantitative genetic research has concrete translational potential. Quantitative genetic research can supplement neuroscience research in informing about different subtypes of AB, such as AB coupled with callous-unemotional traits. Quantitative genetic research is also important in advancing the understanding of the mechanisms by which environmental risk operates. PMID:18434281

  10. Comparison of pharmacist knowledge, perceptions and training opportunities regarding maternal-fetal medicine in Canada, Qatar and Uganda

    PubMed Central

    Bains, Serena; Kitutu, Freddy E.; Rahhal, Ala’a; Abu Samaha, Rana; Wilby, Kyle J.

    2014-01-01

    Background: Although pharmacists have great potential to modify and optimize drug therapy in pregnancy and lactation, current literature demonstrates that they do not routinely provide this care and often feel ill equipped to do so. The objective of this study was to determine pharmacists’ knowledge and perceptions of maternal-fetal medicine in Canada, Uganda and Qatar. Secondary objectives were to determine factors associated with pharmacists’ knowledge and to characterize training opportunities and resources available to practising pharmacists. Methods: A cross-sectional survey using online software (SurveyMonkey) was sent to the e-mails of potential research participants. Practising pharmacists and resident pharmacists in British Columbia, Canada; the country of Qatar; and the country of Uganda were eligible for inclusion. The survey was designed to assess knowledge and perceptions, and to create a baseline inventory of current practice and information resources used in practice. Results: The mean knowledge assessment scores of pharmacists in Canada, Qatar and Uganda were 62.9%, 53.3%, and 57.7%, respectively (p < 0.05). Pharmacists in British Columbia scored higher on knowledge assessment than pharmacists in Qatar (p < 0.05), but other country comparisons were not significant. No predefined factors (gender, years of experience, practice area or parental status) were found to be significant in determining the knowledge score. More than two-thirds of pharmacists expressed interest in participating in continuing education opportunities in maternal-fetal medicine. Conclusion: Pharmacists have differing levels of knowledge in the area of maternal-fetal medicine. Continuing education and degree curricula should be reviewed and developed to fill the knowledge gaps of student pharmacists and practising pharmacists in maternal-fetal medicine. PMID:25364351

  11. The Perceived Effectiveness of the School Based Support Program: A National Capacity Building Initiative by the National Center for Educational Development at Qatar University

    ERIC Educational Resources Information Center

    Abu-Tineh, Abdullah M.

    2015-01-01

    Purpose: This study aims to investigate the effectiveness of the school-based support program (SBSP) as perceived by teachers who participated in this program. SBSP was designed to collectively build the capacity and promote the overall quality of teaching and learning in identified independent schools in the State of Qatar.…

  12. Objective structured clinical examination for pharmacy students in Qatar: cultural and contextual barriers to assessment.

    PubMed

    Wilby, K J; Black, E K; Austin, Z; Mukhalalati, B; Aboulsoud, S; Khalifa, S I

    2016-04-01

    This study aimed to evaluate the feasibility and psychometric defensibility of implementing a comprehensive objective structured clinical examination (OSCE) on the complete pharmacy programme for pharmacy students in a Middle Eastern context, and to identify facilitators and barriers to implementation within new settings. Eight cases were developed, validated, and had standards set according to a blueprint, and were assessed with graduating pharmacy students. Assessor reliability was evaluated using inter-class coefficients (ICCs). Concurrent validity was evaluated by comparing OSCE results to professional skills course grades. Field notes were maintained to generate recommendations for implementation in other contexts. The examination pass mark was 424 points out of 700 (60.6%). All 23 participants passed. Mean performance was 74.6%. Low to moderate inter-rater reliability was obtained for analytical and global components (average ICC 0.77 and 0.48, respectively). In conclusion, OSCE was feasible in Qatar but context-related validity and reliability concerns must be addressed prior to future iterations in Qatar and elsewhere. PMID:27432407

  13. Characterizing the ADHD Phenotype for Genetic Studies

    ERIC Educational Resources Information Center

    Stevenson, Jim; Asherson, Phil; Hay, David; Levy, Florence; Swanson, Jim; Thapar, Anita; Willcutt, Erik

    2005-01-01

    The genetic study of ADHD has made considerable progress. Further developments in the field will be reliant in part on identifying the most appropriate phenotypes for genetic analysis. The use of both categorical and dimensional measures of symptoms related to ADHD has been productive. The use of multiple reporters is a valuable feature of the…

  14. Education for a New Era: Design and Implementation of K-12 Education Reform in Qatar. Monograph

    ERIC Educational Resources Information Center

    Brewer, Dominic J.; Augustine, Catherine H.; Zellman, Gail L.; Ryan, Gery; Goldman, Charles A.; Stasz, Cathleen; Constant, Louay

    2007-01-01

    The leadership of Qatar has a social and political vision that calls for improving the outcomes of the Qatari K-12 education system. With this vision in mind, the leadership asked RAND to examine Qatar's K-12 education system, to recommend options for building a world-class system, and, subsequently, to develop the chosen option and support its…

  15. The Migrant Effect: An Evaluation of Native Academic Performance in Qatar

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2014-01-01

    Recent data have suggested that despite massive outlays on educational reform Qatar consistently ranks as one of the least academically proficient countries in key areas of literacy. Of the seventy-four countries that participated in PISA 2009 Qatar ranked between sixty-seven and sixty-nine in mathematics, reading and science literacy. Although…

  16. The Private-Public Literacy Divide amid Educational Reform in Qatar: What Does PISA Tell Us?

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2015-01-01

    The education system in Qatar comprises of both private schools, which receive money through student fees, and public schools, which are fully government-funded. In the mid-2000s, Qatar started its transition towards an independent school model with the aim of eventually converting all public schools into government-supported independent schools.…

  17. Small Steps Lead to Quality Assurance and Enhancement in Qatar University

    ERIC Educational Resources Information Center

    Al Attiyah, Asma; Khalifa, Batoul

    2009-01-01

    This paper presents a brief overview of Qatar University's history since it was started in 1973. Its primary focus is on the various small, but important, steps taken by the University to address the needs of quality assurance and enhancement. The Qatar University Reform Plan is described in detail. Its aims are to continually improve the quality…

  18. Concerns and considerations among caregivers of a child with autism in Qatar

    PubMed Central

    2012-01-01

    Background Autism impacts the lives of the family looking after a child with the condition in different ways, and forces family members to modify their daily lives to suit their reality. To our knowledge, no previous research investigated concern and considerations of parents/caregivers of children with autism in Qatar or the Arabic speaking Middle Eastern region. Methods Caregivers of a child who was between the age of 3 to17 years old at the time of the study and who was diagnosed with ASD (Autistic Group or AG) were recruited from the two main developmental pediatric and children rehabilitation clinics in Qatar. The control group (non-autism group, or NAG) was represented by caregivers of a non-autistic child between the age of 3 to 17 years old at the time of the study and who were visiting a family clinic of a primary health care facility for routine medical check-up. Data collected from both groups included related to the child (e.g. the child’s date of birth, his/her relation to the caregiver, number of siblings, number of hours of sleep in a day, number of hours spent watching television or videos prior to age 3, time spent indoors prior to age 3, absenteeism from school, and use of a nanny to care for the child) and to the caregiver (education level, profession, level of consanguinity using the phylogram method). In addition to these questions, caregivers in the AG were asked specific questions around maternal concern and considerations in respect to the future of their children and the specialized services they receive. Results Children in the autism group spent more time indoors, watching television, or sleeping than children in the non-autism group. Only around 40% of caregivers in the autism group said they would encourage their child to get married and become a parent when s/he grows up. A number of caregivers of children with autism frequently utilize specialized rehabilitation services; others did express their needs for these services and made

  19. Analysis of pediatric trauma data from a hospital based trauma registry in Qatar

    PubMed Central

    Alyafei, Khalid A; Toaimah, Fatihi; El Menyar, Ayman; Al Thani, Hassan; Youssef, Bashir; Mollazehi, Muneera; Consunji, Rafael

    2015-01-01

    Background: Trauma is the leading killer in the young age children, but data about the injury burden on pediatric population are lacking. The aim of this study is to describe the epidemiology and outcome of the traumatic injuries among children in Qatar. Materials and Methods: This is a retrospective analysis of a trauma registry database, which reviewed all cases of serious traumatic injury (ISS ≥ 9) to children aged 0–18 years who were admitted to the national pediatric Level I trauma center at the Hamad General Hospital (HGH), over a period of one year. Data included demographics, day of injuries, location, time, type and mechanism of injuries, co-morbidity, safety equipment use, pre-hospital intubation, mode of pre-hospital transport, Glasgow Coma Scale (GCS), Injury Severity Score (ISS), emergency department (ED) intervention, hospital length of stay and mortality outcome. Results: The incidence of severe pediatric trauma was 163 per 280,000 children who visited the ED of HGH in 2011. Out of them, 83% were male, mean age was 9.6 ± 5.9 years and mortality rate was 1.8%. On presentation to the ED, the mean ISS was 13.9 ± 6.6 and GCS was 13.4 ± 3.8. Over half of the patients needed ICU admission. For the ages 0-4 years, injuries most frequently occurred at home; for 5-9 years (59%) and 15-18 years (68%), the street; and for 10-14 years (50%), sports and recreational sites. The most common mechanisms of injury for the age groups were falls for 0-4 years, motor vehicle collision (MVC) or pedestrian injury for 5-9 years, all-terrain vehicle (ATV)/bicycle injuries for 10-14 years, and MVC injuries for 15-18 years. Head (34%) and long bone (18%) injuries were the most common, with 18% suffering from polytrauma. None of the patients were using safety equipment when injured. Conclusion: Traumatic injuries to children have an age- and mechanism-specific pattern in Qatar. This has important implications for the formulation of focused injury prevention programs for

  20. RR Lyrae Stars in the GCVS Observed by the Qatar Exoplanet Survey

    NASA Astrophysics Data System (ADS)

    Bramich, D. M.; Alsubai, K. A.; Arellano Ferro, A.; Parley, N. R.; Collier Cameron, A.; Horne, K.; Pollacco, D.; West, R. G.

    2014-05-01

    We used the light curve archive of the Qatar Exoplanet Survey to investigate the RR Lyrae variable stars listed in the GCVS. Of 588 variables studied, we reclassified 14 as eclipsing binaries, one as an RS CVn type variable, one as an irregular variable, four as classical Cepheids, and one as a type II Cepheid, while also improving their periods. We also report new RR Lyrae sub-type classifications for 65 variables and improve on the GCVS period estimates for 135 RR Lyrae variables. There are seven double-mode RR Lyrae stars in the sample for which we measured their fundamental and first overtone periods. Finally, we detected the Blazhko effect in 38 of the RR Lyrae stars for the first time and we successfully measured the Blazhko period for 26 of them.

  1. The Ischemic Stroke Genetics Study (ISGS) Protocol

    PubMed Central

    Meschia, James F; Brott, Thomas G; Brown, Robert D; Crook, Richard JP; Frankel, Michael; Hardy, John; Merino, José G; Rich, Stephen S; Silliman, Scott; Worrall, Bradford Burke

    2003-01-01

    Background The molecular basis for the genetic risk of ischemic stroke is likely to be multigenic and influenced by environmental factors. Several small case-control studies have suggested associations between ischemic stroke and polymorphisms of genes that code for coagulation cascade proteins and platelet receptors. Our aim is to investigate potential associations between hemostatic gene polymorphisms and ischemic stroke, with particular emphasis on detailed characterization of the phenotype. Methods/Design The Ischemic Stroke Genetic Study is a prospective, multicenter genetic association study in adults with recent first-ever ischemic stroke confirmed with computed tomography or magnetic resonance imaging. Patients are evaluated at academic medical centers in the United States and compared with sex- and age-matched controls. Stroke subtypes are determined by central blinded adjudication using standardized, validated mechanistic and syndromic classification systems. The panel of genes to be tested for polymorphisms includes β-fibrinogen and platelet glycoprotein Ia, Iba, and IIb/IIIa. Immortalized cell lines are created to allow for time- and cost-efficient testing of additional candidate genes in the future. Discussion The study is designed to minimize survival bias and to allow for exploring associations between specific polymorphisms and individual subtypes of ischemic stroke. The data set will also permit the study of genetic determinants of stroke outcome. Having cell lines will permit testing of future candidate risk factor genes. PMID:12848902

  2. Procedures of recruiting, obtaining informed consent, and compensating research participants in Qatar: findings from a qualitative investigation

    PubMed Central

    2014-01-01

    Background Very few researchers have reported on procedures of recruiting, obtaining informed consent, and compensating participants in health research in the Arabian Gulf Region. Empirical research can inform the debate about whether to adjust these procedures for culturally diverse settings. Our objective was to delineate procedures related to recruiting, obtaining informed consent, and compensating health research participants in the extremely high-density multicultural setting of Qatar. Methods During a multistage mixed methods project, field observations and qualitative interviews were conducted in a general medicine clinic of a major medical center in Qatar. Participants were chosen based on gender, age, literacy, and preferred language, i.e., Arabic, English, Hindi and Urdu. Qualitative analysis identified themes about recruitment, informed consent, compensation, and other research procedures. Results A total of 153 individuals were approached and 84 enrolled; the latter showed a diverse age range (18 to 75 years); varied language representation: Arabic (n = 24), English (n = 20), Hindi (n = 20), and Urdu (n = 20); and balanced gender distribution: women (n = 43) and men (n = 41). Primary reasons for 30 declinations included concern about interview length and recording. The study achieved a 74% participation rate. Qualitative analytics revealed key themes about hesitation to participate, decisions about participation with family members as well as discussions with them as “incidental research participants”, the informed consent process, privacy and gender rules of the interview environment, reactions to member checking and compensation, and motivation for participating. Vulnerability emerged as a recurring issue throughout the process among a minority of participants. Conclusions This study from Qatar is the first to provide empirical data on recruitment, informed consent, compensation and other research procedures in a general

  3. Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).

    PubMed

    Abdul Wahab, A; Al Thani, G; Dawod, S T; Kambouris, M; Al Hamed, M

    2001-04-01

    Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar. PMID:11336127

  4. Antenatal genetic studies in twin pregnancies.

    PubMed

    Redwine, F O; Cruikshank, D P; Brown, J

    1984-01-01

    The diagnosis of multiple gestation at the time of genetic amniocentesis is a routine occurrence. In a combined series of 2765 patients referred for antenatal genetic studies from the Medical College of Virginia and the University of Iowa, 34 twin pregnancies were encountered (1.2%). Twenty-six of the patients with twins were referred for advanced maternal age. The other indications were previous neural tube defects (1), previous trisomy 21 (2), known carriers of Tay Sachs disease (2), previous Turner's syndrome (1), family history of trisomy 21 (1), and one pregnancy was referred because of an abnormal ultrasound. Amniocentesis procedures, outcome of the twin pregnancies, and genetic counseling issues, are discussed. PMID:6741416

  5. Genetic studies in the Amish community.

    PubMed

    Patton, Michael A

    2005-01-01

    The Amish community was established in Pennsylvania, Ohio and Indiana. They form a distinct and biologically isolated community by virtue of their strong cultural and religious beliefs. This paper outlines aspects of the Amish culture and reviews some of the recent genetic studies that have been undertaken in this community. PMID:16096212

  6. Evaluation of the atmospheric model WRF on the Qatar peninsula for a converging sea-breeze event

    NASA Astrophysics Data System (ADS)

    Balan Sobhana, Sandeepan; Nayak, Sashikant; Panchang, Vijay

    2016-04-01

    Qatar, a narrow peninsula covering an area of 11437 sq km, extends northwards into the Arabian Gulf for about 160km and has a maximum width of 88km. The convex shape of the coast-line and narrowness of the peninsula results in the Qatar region experiencing complex wind patterns. The geometry is favorable for formation of the land-sea breeze from both coastal sides of the peninsula. This can lead to the development of sea breeze convergence zones in the middle of the country. Although circulations arising from diurnal thermal contrast of land and water are amongst most intensively studied meteorological phenomena, there is no reported study for the Qatar peninsula and very few studies are reported for the Arabian Gulf region as whole. It is necessary to characterize the wind field for applications such as assessing air pollution, renewable energy etc. A non-hydrostatic mesoscale model, Weather Research and Forecast (WRF) with a nested high resolution grid permits the investigation of such fine scale phenomena. Data from eighteen land based Automated Weather Stations (AWS) and two offshore buoys deployed and maintained by the Qatar Meteorological Department were analyzed. Based on the analysis a clear case of sea breeze convergence were seen on 18 September 2015. Model simulations were used to investigate the synoptic conditions associated with the formation of this event. The season is characterized by week ambient north westerly wind over the Arabian Gulf. The WRF model performance is validated using observed in-situ data. Model simulations show that vertical extent of sea breeze cell was up to 1 km and the converging sea breeze regions were characterized with high vertical velocities. The WRF simulation also revealed that with high resolution, the model is capable of reproducing the fine scale patterns accurately. The error of predictions in the inner domain (highest resolution) are found to be relatively lower than coarse resolution domain. The maximum wind speed

  7. 76 FR 38614 - Transportation Infrastructure/Multimodal Products and Services Trade Mission to Doha, Qatar, and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-07-01

    ... and strategies; mass transportation systems; advanced vehicle technologies and intelligent...- modal freight and intelligent supply chain management, provides significant business opportunities in... Mission to Qatar and the U.A.E. must complete and timely submit an application package for...

  8. Presymptomatic studies in genetic frontotemporal dementia.

    PubMed

    Rohrer, J D; Warren, J D; Fox, N C; Rossor, M N

    2013-10-01

    Approximately 20% of patients with the neurodegenerative disorder frontotemporal dementia (FTD) have an autosomal dominant pattern of inheritance. Genetic FTD is caused by mutations in three genes in most cases (progranulin, microtubule-associated protein tau and chromosome 9 open reading frame 72) although a number of other genes are rare causes. Studies of other neurodegenerative diseases have shown imaging and biomarker evidence of disease onset many years prior to the development of symptoms. Similar studies in genetic FTD are now revealing evidence of a series of presymptomatic changes, initially in plasma biomarkers followed by MR imaging abnormalities of functional and structural connectivity and then grey matter atrophy. Lastly, neuropsychometric tests become abnormal in proximity to the onset of symptoms. Such studies have been relatively small until now but research centres with an expertise in genetic FTD are now forming consortia such as the Genetic Frontotemporal Dementia Initiative (GenFI) to create larger cohorts that can form the basis of future clinical trials. PMID:24012408

  9. Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.

    PubMed

    Fahiminiya, S; Almuriekhi, M; Nawaz, Z; Staffa, A; Lepage, P; Ali, R; Hashim, L; Schwartzentruber, J; Abu Khadija, K; Zaineddin, S; Gamal, H; Majewski, J; Ben-Omran, T

    2014-08-01

    Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to identify disease-causing genes in consanguineous families in Qatar. Seventeen consanguineous families with diverse disorders were recruited. Initial mutation screening of known genes related to the clinical diagnoses did not reveal the causative mutations. Using WES approach, we identified the definitive disease-causing mutations in four families: (i) a novel nonsense homozygous (c.1034C>G) in PHKG2 causing glycogen storage disease type 9C (GSD9C) in a male with initial diagnosis of GSD3; (ii) a novel homozygous 1-bp deletion (c.915del) in NSUN2 in a male proband with Noonan-like syndrome; (iii) a homozygous SNV (c.1598C>G) in exon 11 of IDUA causing Hurler syndrome in a female proband with unknown clinical diagnosis; (iv) a de novo known splicing mutation (c.1645+1G>A) in PHEX in a female proband with initial diagnosis of autosomal recessive hypophosphatemic rickets. Applying WES as a diagnostic tool led to the unambiguous identification of disease-causing mutations in phenotypically complex disorders or correction of the initial clinical diagnosis in ˜25% of our cases. PMID:24102521

  10. Impact of clinical pharmacy services in a short stay unit of a hospital emergency department in Qatar.

    PubMed

    Abdelaziz, Hani; Al Anany, Rasha; Elmalik, Ashraf; Saad, Mohammad; Prabhu, Kirti; Al-Tamimi, Haleema; Salah, Salem Abu; Cameron, Peter

    2016-08-01

    Background The presence of a clinical pharmacist in a hospital's Emergency Department (ED) is important to decrease the potential for medication errors. To our knowledge, no previous studies have been conducted to evaluate the impact of implementing clinical pharmacy services in the ED in Qatar. Objective To characterize the contributions of clinical pharmacists in a short stay unit of ED in order to implement and scale-up the service to all ED areas in the future. Methods A retrospective study conducted for 7 months in the ED of Hamad General Hospital, Qatar. The intervention recommendations were made by clinical pharmacists to the physician in charge during medical rounds. Results A total of 824 documented pharmacist recommendations were analyzed. The interventions included the following: Providing information to the physician (24.4 %) and recommending medication discontinuation (22.0 %), dose adjustment (19.3 %), medication addition (16.0 %), changes in frequency of medications (7.6 %), medication resumption (5.7 %), and patient education (5.0 %). Conclusion Clinical pharmacists in the ED studied play an important role in patient care. PMID:27033505

  11. Henoch-Schöenlein syndrome in Qatar: the effects of steroid therapy and paucity of renal involvement.

    PubMed

    Dawod, S T; Akl, K F

    1990-01-01

    This is a retrospective study of 40 patients admitted to Hamad General Hospital in the state of Qatar between January 1983 and December 1987 with the diagnosis of Henoch-Schöenlein syndrome. Of the 40 patients, 25 were boys and 15 were girls, with a ratio of 1.6:1. Ages ranged from 2 years 3 months to 13 years, with a mean of 6 years. There were six episodes of recurrence in four patients. There was a clustering of cases in late summer and early winter. About half of the patients had a history of preceding upper respiratory infection. All of them had the typical skin rash. The percentages of joint, gastro-intestinal and renal manifestations were 80%, 65% and 17.39%, respectively. One patient had penile swelling which has not been reported before. Steroid therapy seemed to enhance early resolution of abdominal pain but did not affect the course of the syndrome. Sixty-seven per cent of the patients were followed up for from 4 weeks to 5 years, with a mean of 8 months. Only one patient with renal involvement continued to have proteinuria with microscopic haematuria and hypertension. The rest were normal within about 2 months. The remarkably low incidence of renal involvement in our study may be related to local variations in causative factors. Henoch-Schöenlein syndrome is a milder disease in Qatar than in other countries. PMID:1703745

  12. Bio-repository of DNA in stroke: a study protocol of three ancestral populations

    PubMed Central

    Cotlarciuc, Ioana; Khan, Muhammad Saleem; Maheshwari, Ankita; Yadav, Sunaina; Khan, Fahmi Yousif; Al-Hail, H; de Silva, Ranil; Gorthi, S P; Gupta, Salil; Sharma, Shri Ram; Sylaja, P N; Prasad, Kameshwar; Sharma, Pankaj

    2012-01-01

    Stroke is a leading cause of death and disability in the world. Identifying the genes underlying stroke risk may help us to improve our understanding of the mechanisms that cause stroke and also identify novel therapeutic targets. To have sufficient power to disentangle the genetic component of stroke, large-scale highly phenotyped DNA repositories are necessary. The BRAINS (Bio-repository of DNA in stroke) study aims to recruit subjects with all subtypes of stroke as well as controls from UK, India, Sri Lanka and Qatar. BRAINS-UK will include 1500 stroke patients of European ancestry as well as British South Asians. BRAINS-South Asia aims to recruit 3000 stroke subjects and 3000 controls from across India and Sri Lanka. BRAINS-Middle East aims to enrol 1500 stroke patients from Qatar. The controls for BRAINS-Middle East will be recruited from a population-based Qatari Biobank. With the addition of new recruitment centres in India and Qatar, we present an updated version of the BRAINS study protocol. This is the first international DNA biobank for stroke patients and controls from the Middle East. By investigating the influence of genetic factors on stroke risk in European, South Asian and Middle Eastern populations, BRAINS has the potential to improve our understanding of genetic differences between these groups and may lead to new population-specific therapeutic targets. PMID:24175068

  13. Investigating chlorophyll and nitrogen levels of mangroves at Al-Khor, Qatar: an integrated chemical analysis and remote sensing approach.

    PubMed

    Al-Naimi, Noora; Al-Ghouti, Mohammad A; Balakrishnan, Perumal

    2016-05-01

    Mangroves are unique ecosystems that dominate tropical and subtropical coastlines around the world. They provide shelter and nursery to wide variety of species such as fish and birds. Around 73 species of mangroves were recognized around the world. In Qatar, there is only one mangrove species Avicennia marina that is predominant along the northeastern coast. Assessing the health of these valuable ecosystems is vital for protection, management, and conservation of those resources. In this study, an integrated approach of chemical and remote sensing analysis was implemented to investigate the current status of the mangrove trees in Al-Khor, Qatar. Fifteen different A. marina trees from different locations in the mangrove forest were examined for their chlorophyll and nitrogen content levels. Soil analysis was also conducted to understand the effect of moisture on nitrogen availability. Results shows that currently, mangroves are in a good status in terms of nitrogen availability and chlorophyll levels which are related and both are key factors for photosynthesis. Remote sensing techniques were used for chlorophyll prediction. The results showed that these methods have the potential to be used for chlorophyll prediction and estimation. PMID:27048493

  14. Getting Its Ducks in a Row? Qatar Foundation's Agreement with HEC Paris and the Launch of the Qatar Foundation Management, Education and Research Centre

    ERIC Educational Resources Information Center

    Observatory on Borderless Higher Education, 2010

    2010-01-01

    Last week, private, non-profit organisation the Qatar Foundation (QF) announced a partnership agreement with French business institution HEC Paris to offer executive education programmes. According to the terms of the agreement, a full-time faculty will provide executive and short certificate programmes and corporate-specific training, including…

  15. Education for a New Era: Design and Implementation of K-12 Education Reform in Qatar. Executive Summary

    ERIC Educational Resources Information Center

    Brewer, Dominic J.; Augustine, Catherine H.; Zellman, Gail L.; Ryan, Gery; Goldman, Charles A.; Stasz, Cathleen; Constant, Louay

    2007-01-01

    The leadership of Qatar has a social and political vision that calls for improving the outcomes of the Qatari K-12 education system. With this vision in mind, the leadership asked RAND to examine Qatar's K-12 education system, to recommend options for building a world-class system, and, subsequently, to develop the chosen option and support its…

  16. Projected changes in climate extremes over Qatar and the Arabian Gulf region

    NASA Astrophysics Data System (ADS)

    Kundeti, K.; Kanikicharla, K. K.; Al sulaiti, M.; Khulaifi, M.; Alboinin, N.; Kito, A.

    2015-12-01

    The climate of the State of Qatar and the adjacent region is dominated by subtropical dry, hot desert climate with low annual rainfall, very high temperatures in summer and a big difference between maximum and minimum temperatures, especially in the inland areas. The coastal areas are influenced by the Arabian Gulf, and have lower maximum, but higher minimum temperatures and a higher moisture percentage in the air. The global warming can have profound impact on the mean climate as well as extreme weather events over the Arabian Peninsula that may affect both natural and human systems significantly. Therefore, it is important to assess the future changes in the seasonal/annual mean of temperature and precipitation and also the extremes in temperature and wind events for a country like Qatar. This study assesses the performance of the Coupled Model Inter comparison Project Phase 5 (CMIP5) simulations in present and develops future climate scenarios. The changes in climate extremes are assessed for three future periods 2016-2035, 2046-2065 and 2080-2099 with respect to 1986-2005 (base line) under two RCPs (Representative Concentrate Pathways) - RCP4.5 and RCP8.5. We analyzed the projected changes in temperature and precipitation extremes using several indices including those that capture heat stress. The observations show an increase in warm extremes over many parts in this region that are generally well captured by the models. The results indicate a significant change in frequency and intensity of both temperature and precipitation extremes over many parts of this region which may have serious implications on human health, water resources and the onshore/offshore infrastructure in this region. Data from a high-resolution (20km) AGCM simulation from Meteorological Research Institute of Japan Meteorological Agency for the present (1979-2003) and a future time slice (2075-2099) corresponding to RCP8.5 have also been utilized to assess the impact of climate change on

  17. Trauma research in Qatar: a literature review and discussion of progress after establishment of a trauma research centre.

    PubMed

    El-Menyar, A; Asim, M; Zarour, A; Abdelrahman, H; Peralta, R; Parchani, A; Al-Thani, H

    2016-11-01

    A structured research programme is one of the main pillars of a trauma care system. Despite the high rate of injury-related mortalities, especially road traffic accidents, in Qatar, little consideration has been given to research in trauma. This review aimed to analyse research publications on the subject of trauma published from Qatar and to discuss the progress of clinical research in Qatar and the Gulf Cooperation Council countries with special emphasis on trauma research. A literature search using PubMed and Google Scholar search engines located 757 English-language articles within the fields of internal medicine, surgery and trauma originating from Qatar between the years 1993 and 2013. A steep increase in the number of trauma publications since 2010 could be linked to the setting up of a trauma research centre in Qatar in 2011. We believe that establishing a research unit has made a major impact on research productivity, which ultimately benefits health care. PMID:26857718

  18. A generalized approach and computer tool for quantitative genetics study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Quantitative genetics is one of the most important components to provide valuable genetic information for improving production and quality of plants and animals. The research history of quantitative genetics study could be traced back more than one hundred years. Since the Analysis of Variance (ANOV...

  19. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The genus Capsicum represents one of several well characterized Solanaceous genera. A wealth of classical and molecular genetics research is available for the genus. Information gleaned from its cultivated relatives, tomato and potato, provide further insight for basic and applied studies. Early ...

  20. Evolutionary genetics in wild primates: combining genetic approaches with field studies of natural populations

    PubMed Central

    Tung, Jenny; Alberts, Susan C; Wray, Gregory A

    2010-01-01

    Ecological and evolutionary studies of wild primates hold important keys to understanding both the shared characteristics of primate biology and the genetic and phenotypic differences that make specific lineages, including our own, unique. Although complementary genetic research on nonhuman primates has long been of interest, recent technological and methodological advances now enable functional and population genetic studies in an unprecedented manner. In the past several years, novel genetic data sets have revealed new information about the demographic history of primate populations and the genetics of adaptively important traits. In combination with the rich history of behavioral, ecological, and physiological work on natural primate populations, genetic approaches promise to provide a compelling picture of primate evolution in the past and in the present day. PMID:20580115

  1. 3D laser scanning and modelling of the Dhow heritage for the Qatar National Museum

    NASA Astrophysics Data System (ADS)

    Wetherelt, A.; Cooper, J. P.; Zazzaro, C.

    2014-08-01

    Curating boats can be difficult. They are complex structures, often demanding to conserve whether in or out of the water; they are usually large, difficult to move on land, and demanding of gallery space. Communicating life on board to a visiting public in the terra firma context of a museum can be difficult. Boats in their native environment are inherently dynamic artifacts. In a museum they can be static and divorced from the maritime context that might inspire engagement. New technologies offer new approaches to these problems. 3D laser scanning and digital modeling offers museums a multifaceted means of recording, monitoring, studying and communicating watercraft in their care. In this paper we describe the application of 3D laser scanning and subsequent digital modeling. Laser scans were further developed using computer-generated imagery (CGI) modeling techniques to produce photorealistic 3D digital models for development into interactive, media-based museum displays. The scans were also used to generate 2D naval lines and orthographic drawings as a lasting curatorial record of the dhows held by the National Museum of Qatar.

  2. Sport events and climate for visitors—the case of FIFA World Cup in Qatar 2022

    NASA Astrophysics Data System (ADS)

    Matzarakis, Andreas; Fröhlich, Dominik

    2015-04-01

    The effect of weather on sport events is not well studied. It requires special attention if the event is taking place at a time and place with extreme weather situations. For the world soccer championship in Qatar (Doha 2022), human biometeorological analysis has been performed in order to identify the time of the year that is most suitable in terms of thermal comfort for visitors attending the event. The analysis is based on thermal indices like Physiologically Equivalent Temperature (PET). The results show that this kind of event may be not appropriate for visitors, if it is placed during months with extreme conditions. For Doha, this is the period from May to September, when conditions during a large majority of hours of the day cause strong heat stress for the visitors. A more appropriate time would be the months November to February, when thermally comfortable conditions are much more frequent. The methods applied here can quantify the thermal conditions and show limitations and possibilities for specific events and locations.

  3. Composition of Atmospheric Dust from Qatar in the Arabian Gulf

    NASA Astrophysics Data System (ADS)

    Yigiterhan, O.; Al-Ansari, I. S.; Abdel-Moati, M.; Al-Ansi, M.; Paul, B.; Nelson, A.; Turner, J.; Murray, J. W.; Alfoldy, B. Z.; Mahfouz, M. M. K.; Giamberini, M.

    2015-12-01

    Samples of atmospheric dust from Qatar have been collected and analyzed for major and trace elemental composition. Twenty-one samples were collected in 2014 and 2015 from Doha, Al Khor, Katara, Sealine, and Al Waab by a variety of techniques. Some samples were collected during the megastorms that occurred in April 2015. Back trajectories were determined for each sample using the NOAA HYSPLIT model over a 50 hour time interval. Our samples were about equally divided between northerly (n=12; northern Saudi Arabia, Kuwait or Iraq) and southerly (n=8; SE Saudi Arabia, United Arab Emirates and Oman) sources. One sample originated directly westward, in Saudi Arabia. Samples were microwave-assisted total acid digested (HF+HCl+HNO3) and analyzed by inductively coupled plasma-mass spectroscopy (ICP-MS) and inductively coupled plasma-optical emission spectroscopy (ICP-OES). There are only 12 out of 23 elements for which the Qatari dust was enriched relative to upper continental crust (UCC). Calcium was especially enriched at 400% relative to UCC. About 33% of the total sample mass was CaCO3, reflecting the composition of surface rocks in the source areas. Of the elements typically associated with anthropogenic activity, Ag, Ni and Zn were the most enriched relative to UCC, with enrichment factors of 182%, 233% and 209%, respectively. Others like Pb and V were not significantly enriched, with enrichment factors of 25% and 3%, respectively. The major elements Al, Mn and Fe were depleted relative to UCC because of the strong enrichment in CaCO3, with enrichment factors of -58%, -35% and -45% respectively. We separately averaged the samples with northern and southern origins to see if composition could be used to identify source. Only three elements had a statistical difference. Pb and Na were higher in the samples from the Se while Cr was higher in those from the north.

  4. Horizontal well application in QGPC - Qatar, Arabian Gulf

    SciTech Connect

    Jubralla, A.F.; Al-Omran, J.; Al-Omran, S.

    1995-08-01

    As with many other areas in the world, the application of horizontal well technology in Qatar has changed the {open_quotes}old time{close_quotes} reservoir development philosophy and approach. QGPC`s first experience with this technology was for increased injectivity in an upper Jurassic reservoir which is comprised by alternating high and low permeable layers. The first well drilled in 1990 offshore was an extreme success and the application was justified for fieldwide implementation. Huge costs were saved as a result. This was followed by 2 horizontal wells for increased productivity in a typically tight (< 5 mD) chalky limestone of Cretaceous age. A fourth offshore well drilled in a thin (30 ft) and tight (10-100 mD) Jurassic dolomite overlaying a stack of relatively thick (25-70 ft) and {open_quotes}Watered Out{close_quotes} grain and grain-packstones, (500-4500 mD) indicated another viable and successful application. A similar approach in the Onshore Dukhan field has been adopted for another Upper Jurassic reservoir. The reservoir is 80 ft thick and is being developed by vertical wells. However, permeability contrast between the upper and lower cycles had caused preferential production and hence injection across the lower cycles, leaving the upper cycles effectively undrained. Horizontal wells have resulted in productivity and injectivity improvements by a factor 3 to 5 that of vertical wells. Therefore a field wide development scheme is being implemented. 3D seismic and the imaging tools, such as the FMS, reconciled with horizontal cores have assisted in understanding the lateral variation and the macro and micro architectural and structural details of these reservoirs. Such tools are essential for the optimum design of horizontal wells.

  5. Quality of Life of Caregivers of Children with Autism in Qatar

    ERIC Educational Resources Information Center

    Kheir, Nadir; Ghoneim, Ola; Sandridge, Amy L.; Al-Ismail, Muna; Hayder, Sara; Al-Rawi, Fadhila

    2012-01-01

    Introduction: Caring for a child diagnosed with autism could affect the quality of life of the caregiver in various different ways. No previous research has assessed the quality of lives of caregivers of children with autism in Qatar. Methods: Caregivers of a child with autism between 3 and 17 years old were recruited from child rehabilitation…

  6. Lifelong Education in University Life in the Arab Countries: The Qatar University Experience.

    ERIC Educational Resources Information Center

    Sobeih, Nabil Ahmed Amer

    Suggestions for strengthening lifelong education at Qatar's University and other Arab universities are offered that might apply to other countries. Particular attention is devoted to: various views of the relative functions, content, and duration of initial and higher education; new procedures of admission and the evaluation of experience; new…

  7. A road map to Translational Medicine in Qatar and a model for the world.

    PubMed

    Marincola, Francesco M; Sheikh, Javaid I

    2012-01-01

    Translational Medicine (TM) in Qatar is part of a concerted effort of the Qatari medical and scientific leadership supported by a strong political will by Qatari authorities to deliver world-class health care to Qatari residents while participating in the worldwide quest to bridge the gap between bench-to-bedside-to-community. TM programs should embrace the Qatar National vision for research to become an international hub of excellence in research and development, based on intellectual merit, contributing to global knowledge and adhering to international standards, to innovate by translating new and original ideas into useful applications, to be inclusive at the national and international level, to build and maintain a competitive and diversified economy and ultimately improve the health and well-being of the Qatar's population. Although this writing focuses on Qatar, we hope that the thoughts expressed here may be of broader use for the development of any TM program particularly in regions where an established academic community surrounded by a rich research infrastructure and/or a vibrant biotechnology enterprise is not already present. PMID:22929646

  8. An International Collaboration: Establishing an Education Collection in a Library in Qatar

    ERIC Educational Resources Information Center

    Smith, Jane

    2008-01-01

    Texas A&M University has a history of international collaboration, cooperation and global outreach. Texas A&M University at Qatar provides engineering students in the Middle East with an education, and ultimately, a degree comparable to that found on our home campus in College Station. The Texas A&M University Libraries have provided curricular…

  9. "Hope in the Life": The Children of Qatar Speak about Inclusion

    ERIC Educational Resources Information Center

    Al Attiyah, Asma; Lazarus, Brenda

    2007-01-01

    Qatar supports the rights of children with special needs to obtain suitable opportunities to learn and be included with other children. However, the concept of inclusion in education is relatively new in this country. In 2001, the Special Needs Committee of the Supreme Council for Family Affairs set up a task force to begin planning for including…

  10. Developing a School Finance System for K-12 Reform in Qatar

    ERIC Educational Resources Information Center

    Guarino, Cassandra M.; Galama, Titus; Constant, Louay; Gonzalez, Gabriella; Tanner, Jeffery C.; Goldman, Charles A.

    2009-01-01

    Reform-minded leaders of Qatar, who have embarked on a sweeping reform of their nation's education system, asked RAND to evaluate the education finance system that has been adopted and to offer suggestions for improvements. The authors analyze the system's evolution and resource allocation patterns between 2004 and 2006 and develop analytic tools…

  11. Development of Education in Qatar (1975/76 and 1976/77).

    ERIC Educational Resources Information Center

    Ministry of Education and Youth Welfare (Qatar).

    The national educational system of Qatar was established in 1956, when the discovery of oil provided a financial base for educational expansion. The government provides free education from primary school through the university and has stressed a system of incentives for students rather than declaring education compulsory on any level. Four types…

  12. International Trends in Health Science Librarianship Part 18: The Middle East (Iran, Qatar and Turkey).

    PubMed

    Zeraatkar, Kimia; Ayatollahi, Haleh; Havlin, Tracy; Neves, Karen; Şendir, Mesra

    2016-06-01

    This is the 18th in a series of articles exploring international trends in health science librarianship in the 21st century. The focus of the present issue is the Middle East (Iran, Qatar and Turkey). The next feature column will investigate trends in the Balkan States JM. PMID:27168258

  13. Post-Secondary Education in Qatar: Employer Demand, Student Choice, and Options for Policy. Monograph

    ERIC Educational Resources Information Center

    Stasz, Cathleen; Eide, Eric R.; Martorell, Francisco

    2007-01-01

    Qatar has made significant efforts to improve post-secondary educational opportunities to ensure that its citizens are able to contribute to the country's social and economic goals. These initiatives, however, have not been subjected to a broad strategic review. The authors describe RAND's analysis of skill and occupational demands and related…

  14. Genetics

    MedlinePlus

    Homozygous; Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  15. Genetics

    MedlinePlus

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  16. Statistical Analysis in Genetic Studies of Mental Illnesses

    PubMed Central

    Zhang, Heping

    2011-01-01

    Identifying the risk factors for mental illnesses is of significant public health importance. Diagnosis, stigma associated with mental illnesses, comorbidity, and complex etiologies, among others, make it very challenging to study mental disorders. Genetic studies of mental illnesses date back at least a century ago, beginning with descriptive studies based on Mendelian laws of inheritance. A variety of study designs including twin studies, family studies, linkage analysis, and more recently, genomewide association studies have been employed to study the genetics of mental illnesses, or complex diseases in general. In this paper, I will present the challenges and methods from a statistical perspective and focus on genetic association studies. PMID:21909187

  17. Seasonal Variability in Tropospheric Ozone Distribution Over Qatar

    NASA Astrophysics Data System (ADS)

    Ayoub, Mohammed; Ackermann, Luis

    2015-04-01

    We report on the vertical distribution and seasonal variability in tropospheric ozone over the Middle East through one year of weekly ozonesondes launched from Doha, Qatar during 2014. A total of 49 2Z-V7 DMT/EN-SCI Electrochemical Concentration Cell (ECC) ozonesondes employing a 1% buffered potassium iodide solution (KI), coupled with iMet-1-RS GPS radiosondes were launched around 1300 local time. The authors used the SkySonde telemetry software (developed by CIRES and NOAA/ESRL) and developed robust in-house data quality assurance and validation methodologies. The average height of the thermal tropopause is between 15-17.5 km (125-85 hPa). Monthly average relative humidity around the tropopause shows an enhancement during the months of June through the beginning of October. Monthly average temperature profiles show the development of the subtropical subsidence inversion around 5-6 km (450-520 hPa) between the months of April through October. The subsidence inversion is strongest during the months of June and July and is accompanied by a sharp drop in relative humidity over a 100-300 m in the vertical. The monthly average ozone background concentration between the Planetary Boundary Layer (PBL) height and the subsidence inversion increases from 50 ppb in the winter to almost 80 ppb in the summer months. An enhancement of up to 50% in the average ozone in the mid-to-upper troposphere (above the subsidence inversion) is strongest during the summer months (June through September) and results in average concentrations between 80-100 ppb. In the upper troposphere (above 13 km/200 hPa) ozone concentrations are highest during the spring and summer months. This is coupled with a drop in the average height of the tropopause. HYSPLIT back-trajectory analysis shows the enhancement in mid-to-upper tropospheric ozone in the summer is due to persistent high pressure over the Middle East between the months of June through September. Evidence of Stratosphere-Troposphere Exchange

  18. A study of the practice of individual genetic counsellors and genetic nurses in Europe.

    PubMed

    Skirton, Heather; Cordier, Christophe; Lambert, Debby; Hosterey Ugander, Ulrika; Voelckel, Marie-Antoinette; O'Connor, Anita

    2013-01-01

    Advances in genetics have meant that the genetic services are now accessed by increasing numbers of patients. One way of dealing with the pressure on services without jeopardising patient care is the inclusion of nonmedical genetic counsellors and genetic nurses in the genetic services team. However, a cohesive approach to the profession has been lacking in Europe, and an educational programme and registration system for European practitioners is required. The aim of this study was to ascertain the type of work undertaken by genetic nurses and counsellors in Europe and the context in which they practised. We used a cross-sectional survey design to collect data from 213 practitioners, either genetic nurses or genetic counsellors, from 18 European countries. Respondents completed the survey online, and data were analysed using descriptive statistics and cross-tabulations. The majority were involved in undertaking the initial contact with the patient (89.9 %) and explaining the genetic test to the patient (91.5 %), while 74 % ordered tests and 91.4 % obtained informed consent for such tests. Psychological support before and after genetic testing was provided by 80.2 % of respondents, and 82.1 % reported regularly managing cases autonomously. While the genetic counselling profession is barely established in some countries, counsellors are able to contribute substantially to patient care as part of the multi-disciplinary team. Further efforts to establish the profession at the European level through a registration process will enhance the confidence in this new group of allied health professionals. PMID:23055100

  19. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases

    PubMed Central

    Lee, Wen-Chung

    2016-01-01

    The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventional Cochran-Armitage trend test is striking when the genetic effects are heterogeneous. The easy-to-use R 3.1.2 software (R Foundation for Statistical Computing, Vienna, Austria) code is provided. The optimal trend tests are recommended for routine use. PMID:27278756

  20. Expanding the Genetic Code for Biological Studies

    PubMed Central

    Wang, Qian; Parrish, Angela R.; Wang, Lei

    2009-01-01

    Summary Using an orthogonal tRNA-synthetase pair, unnatural amino acids can be genetically encoded with high efficiency and fidelity; and over forty unnatural amino acids have been site-specifically incorporated into proteins in E. coli, yeast, or mammalian cells. Novel chemical or physical properties embodied in these amino acids enable new means for tailored manipulation of proteins. This review summarizes the methodology and recent progress in expanding this technology to eukaryotic cells. Applications of genetically encoded unnatural amino acids are highlighted with reports on labeling and modifying proteins, probing protein structure and function, identifying and regulating protein activity, and generating proteins with new properties. Genetic incorporation of unnatural amino acids provides a powerful method for investigating a wide variety of biological processes both in vitro and in vivo. PMID:19318213

  1. A "Genetic Study" of the Galaxy

    NASA Astrophysics Data System (ADS)

    2006-09-01

    Looking in detail at the composition of stars with ESO's VLT, astronomers are providing a fresh look at the history of our home galaxy, the Milky Way. They reveal that the central part of our Galaxy formed not only very quickly but also independently of the rest. "For the first time, we have clearly established a 'genetic difference' between stars in the disc and the bulge of our Galaxy," said Manuela Zoccali, lead author of the paper presenting the results in the journal Astronomy and Astrophysics [1]. "We infer from this that the bulge must have formed more rapidly than the disc, probably in less than a billion years and when the Universe was still very young." ESO PR Photo 34a/06 ESO PR Photo 34a/06 The Field around Baade's Window The Milky Way is a spiral galaxy, having pinwheel-shaped arms of gas, dust, and stars lying in a flattened disc, and extending directly out from a spherical nucleus of stars in the central region. The spherical nucleus is called a bulge, because it bulges out from the disc. While the disc of our Galaxy is made up of stars of all ages, the bulge contains old stars dating from the time the galaxy formed, more than 10 billion years ago. Thus, studying the bulge allows astronomers to know more about how our Galaxy formed. To do this, an international team of astronomers [2] analysed in detail the chemical composition of 50 giant stars in four different areas of the sky towards the Galactic bulge. They made use of the FLAMES/UVES spectrograph on ESO's Very Large Telescope to obtain high-resolution spectra. The chemical composition of stars carries the signature of the enrichment processes undergone by the interstellar matter up to the moment of their formation. It depends on the previous history of star formation and can thus be used to infer whether there is a 'genetic link' between different stellar groups. In particular, comparison between the abundance of oxygen and iron in stars is very illustrative. Oxygen is predominantly produced in

  2. Strategies for enrollment of African Americans into cancer genetic studies.

    PubMed

    Ewing, Altovise; Thompson, Nicole; Ricks-Santi, Luisel

    2015-03-01

    The enrollment of ethnically diverse populations in genetic and genomic research is vital to the parity of benefits resulting from research with biological specimens. Herein, we discuss strategies that may effectively improve the recruitment of African Americans into genetics studies. Specifically, we show that engaging physicians, genetic counselors, and community members is essential to enrolling participants into genetic studies. We demonstrate the impact of utilizing African American genetic counselors on study enrollment rates and implementing a two-page consent form that improved on a lengthy and inefficient consenting process. Lastly, we provided participants with the option of donating saliva instead of blood for study purposes. Descriptive statistics were used. Using the aforementioned strategies, recruitment goals for the Genetic Basis of Breast Cancer Subtype Study at Howard University (HU) were met. Our overall results yielded 182 participants in 18 months. Recruitment strategies that involve the engagement of physicians, genetic counselors, and community members may help researchers increase the enrollment of ethnically diverse and hard-to-reach participants into genetic studies. PMID:24882437

  3. Strategies for Enrollment of African Americans into Cancer Genetic Studies

    PubMed Central

    Thompson, Nicole; Ricks-Santi, Luisel

    2014-01-01

    The enrollment of ethnically diverse populations in genetic and genomic research is vital to the parity of benefits resulting from research with biological specimens. Herein, we discuss strategies that may effectively improve the recruitment of African Americans into genetics studies. Specifically, we show that engaging physicians, genetic counselors, and community members is essential to enrolling participants into genetic studies. We demonstrate the impact of utilizing African American genetic counselors on study enrollment rates and implementing a two-page consent form that improved on a lengthy and inefficient consenting process. Lastly, we provided participants with the option of donating saliva instead of blood for study purposes. Descriptive statistics were used. Using the aforementioned strategies, recruitment goals for the Genetic Basis of Breast Cancer Subtype Study at Howard University (HU) were met. Our overall results yielded 182 participants in 18 months. Recruitment strategies that involve the engagement of physicians, genetic counselors, and community members may help researchers increase the enrollment of ethnically diverse and hard-to-reach participants into genetic studies. PMID:24882437

  4. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    PubMed

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. PMID:27601615

  5. Genetic breeding and diversity of the genus Passiflora: progress and perspectives in molecular and genetic studies.

    PubMed

    Cerqueira-Silva, Carlos Bernard M; Jesus, Onildo N; Santos, Elisa S L; Corrêa, Ronan X; Souza, Anete P

    2014-01-01

    Despite the ecological and economic importance of passion fruit (Passiflora spp.), molecular markers have only recently been utilized in genetic studies of this genus. In addition, both basic genetic researches related to population studies and pre-breeding programs of passion fruit remain scarce for most Passiflora species. Considering the number of Passiflora species and the increasing use of these species as a resource for ornamental, medicinal, and food purposes, the aims of this review are the following: (i) to present the current condition of the passion fruit crop; (ii) to quantify the applications and effects of using molecular markers in studies of Passiflora; (iii) to present the contributions of genetic engineering for passion fruit culture; and (iv) to discuss the progress and perspectives of this research. Thus, the present review aims to summarize and discuss the relationship between historical and current progress on the culture, breeding, and molecular genetics of passion fruit. PMID:25196515

  6. Genetic Breeding and Diversity of the Genus Passiflora: Progress and Perspectives in Molecular and Genetic Studies

    PubMed Central

    Cerqueira-Silva, Carlos Bernard M.; Jesus, Onildo N.; Santos, Elisa S. L.; Corrêa, Ronan X.; Souza, Anete P.

    2014-01-01

    Despite the ecological and economic importance of passion fruit (Passiflora spp.), molecular markers have only recently been utilized in genetic studies of this genus. In addition, both basic genetic researches related to population studies and pre-breeding programs of passion fruit remain scarce for most Passiflora species. Considering the number of Passiflora species and the increasing use of these species as a resource for ornamental, medicinal, and food purposes, the aims of this review are the following: (i) to present the current condition of the passion fruit crop; (ii) to quantify the applications and effects of using molecular markers in studies of Passiflora; (iii) to present the contributions of genetic engineering for passion fruit culture; and (iv) to discuss the progress and perspectives of this research. Thus, the present review aims to summarize and discuss the relationship between historical and current progress on the culture, breeding, and molecular genetics of passion fruit. PMID:25196515

  7. Imaging genetics studies on monoaminergic genes in major depressive disorder.

    PubMed

    Won, Eunsoo; Ham, Byung-Joo

    2016-01-01

    Although depression is the leading cause of disability worldwide, current understanding of the neurobiology of depression has failed to be translated into clinical practice. Major depressive disorder (MDD) pathogenesis is considered to be significantly influenced by multiple risk genes, however genetic effects are not simply expressed at a behavioral level. Therefore the concept of endophenotype has been applied in psychiatric genetics. Imaging genetics applies anatomical or functional imaging technologies as phenotypic assays to evaluate genetic variation and their impact on behavior. This paper attempts to provide a comprehensive review of available imaging genetics studies, including reports on genetic variants that have most frequently been linked to MDD, such as the monoaminergic genes (serotonin transporter gene, monoamine oxidase A gene, tryptophan hydroxylase-2 gene, serotonin receptor 1A gene and catechol-O-methyl transferase gene), with regard to key structures involved in emotion processing, such as the hippocampus, amygdala, anterior cingulate cortex and orbitofrontal cortex. PMID:25828849

  8. Evaluation of the timeliness and completeness of communicable disease reporting: Surveillance in The Cuban Hospital, Qatar

    PubMed Central

    Garcell, Humberto Guanche; Hernandez, Tania M. Fernandez; Abdo, Elmusbasher Abu Baker; Arias, Ariadna Villanueva

    2014-01-01

    Public health surveillance systems should be evaluated periodically, and should involve an assessment of system attributes. Objective: Evaluate hospital-based surveillance of communicable diseases using the elements of timeliness and data quality. Method: Descriptive study was conducted of communicable diseases reported at The Cuban Hospital, Qatar during January 2012 to December 2013. The completeness of notifications were assessed for contact number, address, place of work, and date of symptom onset. Time between the symptoms onset and physician notification, time between physician and Supreme Council of Health notification and time between physician notification and lab confirmation were calculated for each case. Analysis: Percentage of cases with documented essential information and 95% confidence interval (CI) were determined. Mean and standard deviation (SD) of time were calculated. Results: 1065 patients were reported, 75% were male, 80% non-qataries and 91.5% were group 1 (high priority) diseases. Symptom onset date was documented in 91.5% (95% CI, 89.8; 93.2) of cases; contact number in 84.7% (82.5;86.8), with lower frequencies for address (68.1%, 65.3;70.9) and place of work (60.5%, 57.5;63.4). Diagnostic time for tuberculosis was 61.7 days (SD 93.0), acute hepatitis 18.5 days (SD 17.6), typhoid fever 17.0 days (SD 11.6 days), other diseases of sexual transmission 300.2 days, chronic hepatitis 165 days and AIDS 154.5 days. The time of notification to the Supreme Council of Health for group 1 diseases was 1.2 days (SD 1.4). Conclusion: Our results show that the quality of essential data and timeliness is not sufficient to meet the needs of the health system. Additional studies should focus on the evaluation of time delay for diagnosis of high priority diseases. PMID:25320693

  9. Genetic Counseling of Adults with Williams Syndrome: A First Study

    PubMed Central

    Farwig, Katrina; Harmon, Amanda G.; Fontana, Kristina M.; Mervis, Carolyn B.; Morris, Colleen A.

    2010-01-01

    We report on a study of genetic counseling to 43 adults with Williams syndrome (WS). Participants were initially asked what they knew about how WS occurs. Genetic counseling was provided with a focus on the basic genetics of WS, recurrence risk, and on participants’ attitudes toward socio-cultural topics. Forty nine % indicated they would be okay or happy if their baby had WS, 44% said they would be sad or upset, and 5% were unsure. The sad/upset group was significantly older than the okay/happy group and a significantly higher proportion of the former group indicated they did not plan to have children. During the post counseling session participants were questioned to determine if they recalled the facts previously presented. Eighy one % correctly gave the odds that their child would have WS. Fifty three % considered the 50-50 odds to be a high chance. After genetic counseling, 61% were able to state something that had been taught, and 88% indicated they would want to test their baby for WS before birth. Ninety eight% would recommend genetic counseling to others. Findings indicate that based on the type of genetic counseling provided in this study, the majority of individuals with WS—a genetic disorder associated with intellectual disability but with relative strengths in (concrete) language and in verbal rote memory—are able to learn simple facts about the genetics of WS and are eager to respond to socio-cultural questions regarding topics typically included in genetic counseling sessions. PMID:20425790

  10. Library collaboration with medical humanities in an american medical college in qatar.

    PubMed

    Birch, Sally; Magid, Amani; Weber, Alan

    2013-11-01

    The medical humanities, a cross-disciplinary field of practice and research that includes medicine, literature, art, history, philosophy, and sociology, is being increasingly incorporated into medical school curricula internationally. Medical humanities courses in Writing, Literature, Medical Ethics and History can teach physicians-in-training communication skills, doctor-patient relations, and medical ethics, as well as empathy and cross-cultural understanding. In addition to providing educational breadth and variety, the medical humanities can also play a practical role in teaching critical/analytical skills. These skills are utilized in differential diagnosis and problem-based learning, as well as in developing written and oral communications. Communication skills are a required medical competency for passing medical board exams in the U.S., Canada, the UK and elsewhere. The medical library is an integral part of medical humanities training efforts. This contribution provides a case study of the Distributed eLibrary at the Weill Cornell Medical College in Qatar in Doha, and its collaboration with the Writing Program in the Premedical Program to teach and develop the medical humanities. Programs and initiatives of the DeLib library include: developing an information literacy course, course guides for specific courses, the 100 Classic Books Project, collection development of 'doctors' stories' related to the practice of medicine (including medically-oriented movies and TV programs), and workshops to teach the analytical and critical thinking skills that form the basis of humanistic approaches to knowledge. This paper outlines a 'best practices' approach to developing the medical humanities in collaboration among the medical library, faculty and administrative stakeholders. PMID:24223240

  11. Library Collaboration with Medical Humanities in an American Medical College in Qatar

    PubMed Central

    Birch, Sally; Magid, Amani; Weber, Alan

    2013-01-01

    The medical humanities, a cross-disciplinary field of practice and research that includes medicine, literature, art, history, philosophy, and sociology, is being increasingly incorporated into medical school curricula internationally. Medical humanities courses in Writing, Literature, Medical Ethics and History can teach physicians-in-training communication skills, doctor-patient relations, and medical ethics, as well as empathy and cross-cultural understanding. In addition to providing educational breadth and variety, the medical humanities can also play a practical role in teaching critical/analytical skills. These skills are utilized in differential diagnosis and problem-based learning, as well as in developing written and oral communications. Communication skills are a required medical competency for passing medical board exams in the U.S., Canada, the UK and elsewhere. The medical library is an integral part of medical humanities training efforts. This contribution provides a case study of the Distributed eLibrary at the Weill Cornell Medical College in Qatar in Doha, and its collaboration with the Writing Program in the Premedical Program to teach and develop the medical humanities. Programs and initiatives of the DeLib library include: developing an information literacy course, course guides for specific courses, the 100 Classic Books Project, collection development of ‘doctors’ stories’ related to the practice of medicine (including medically-oriented movies and TV programs), and workshops to teach the analytical and critical thinking skills that form the basis of humanistic approaches to knowledge. This paper outlines a ‘best practices’ approach to developing the medical humanities in collaboration among the medical library, faculty and administrative stakeholders. PMID:24223240

  12. Progress in genetic association studies of plasma lipids

    PubMed Central

    Asselbergs, Folkert W.; Lovering, Ruth C.; Drenos, Fotios

    2013-01-01

    Purpose of review This review summarizes recently published large-scale efforts elucidating the genetic architecture of lipid levels. A supplemental file with all genetic loci is provided for research purposes and we performed bioinformatic analyses of the genetic variants to give an oversight of involved pathways. Recent findings In total, 52 genes for HDL cholesterol, 42 genes for LDL cholesterol, 59 genes for total cholesterol, and 39 genes for triglycerides have been identified. Genetic overlap is present between the different traits and similar pathways are involved. Most of the SNPs that were detected in the European studies could be replicated in other ethnicities and these SNPs show the same direction of effect suggesting that the underlying genetic architecture of blood lipids is similar between ethnicities. Summary Genetic studies have identified many loci associated with plasma lipids and have provided insight into the underlying mechanisms of lipid homeostasis. Future research is needed to determine whether these loci may be novel targets for lipid-lowering therapy and for reducing cardiovascular disease risk. In addition, the proportion of genetic variance explained by these lipid loci is still limited and new large-scale genetic studies are ongoing to identify additional common and rare variants associated with lipid levels. PMID:23385652

  13. Genetic Epidemiology of Tuberculosis Susceptibility: Impact of Study Design

    PubMed Central

    Stein, Catherine M.

    2011-01-01

    Several candidate gene studies have provided evidence for a role of host genetics in susceptibility to tuberculosis (TB). However, the results of these studies have been very inconsistent, even within a study population. Here, we review the design of these studies from a genetic epidemiological perspective, illustrating important differences in phenotype definition in both cases and controls, consideration of latent M. tuberculosis infection versus active TB disease, population genetic factors such as population substructure and linkage disequilibrium, polymorphism selection, and potential global differences in M. tuberculosis strain. These considerable differences between studies should be accounted for when examining the current literature. Recommendations are made for future studies to further clarify the host genetics of TB. PMID:21283783

  14. Environmental carcinogen exposure and lifestyle factors affecting cancer risk in Qatar: findings from a qualitative review.

    PubMed

    Denholm, R; Schüz, J; Straif, K; Ali, F M H; Bonas, F; Gjebrea, O; Sifton, C; Olsson, A C

    2016-03-01

    To meet the country's health goals for 2011-2016, a qualitative review of exposure to risk factors for cancer in Qatar was conducted in 2013. The review included exposure to environmental agents carcinogenic to humans (International Agency for Research on Cancer classification), as well as lifestyle factors known to affect cancer risk. Information from all available sources was assembled and reviewed. The levels of particulate matter reported in Qatar were in the upper range of ambient air pollutants reported internationally, and may influence the country's future lung cancer burden. The limited data on occupational exposure suggests that the greatest risks for workers in the construction industry are likely to be from environmental dust and related air pollutants. The greatest cancer risks for Qatari nationals may be lifestyle factors, particularly obesity, physical inactivity and tobacco use. Extended monitoring of the composition of and human exposure to air pollutants is recommended. PMID:27334079

  15. Comparison of intestinal parasitic infection in newly arrived and resident workers in Qatar

    PubMed Central

    2011-01-01

    Background The rapid growth of Qatar in the last two decades has been associated with an enormous expansion of building programs in its cities and in the provision of new service industries. This in turn has attracted a large influx of immigrant workers seeking employment in jobs associated with food handling, domestic service and the building industry. Many of these immigrants come from countries in the tropics and subtropics where intestinal parasitic infections are common. Methods We analyzed intestinal parasitic infections recorded in 2008 among immigrant and long-term resident workers in Doha city, Qatar (n = 1538). Stool examinations were carried out at the Hamad Medical Corporation and at the Medical Commission in Doha using standard procedures. Results Overall, 21.5% of subjects were infected with at least one of the species recorded (8 helminth and 4 protozoan species; the highest prevalence was for hookworms = 8.3%) and there were strong regional effects on prevalence of helminths, with subjects from North East Africa and Nepal showing particularly high prevalence. Most helminths declined in prevalence in subjects that acquired residency status in Qatar, especially among female subjects, but there was a marked exception among male Nepalese workers, who continued to harbour helminth infections (notably hookworms) after they became residents. Contrary to all other regional groups the prevalence of Giardia duodenalis was higher among Nepalese residents compared with new arrivals, while Blastocystis hominis infections were more common among residents of all regions, and especially among North East Africans. Conclusions Our analysis has identified male Nepalese workers as a particular risk group continuing to harbour hookworm infection and G. duodenalis as residents, and subjects from North East Africa are as particularly likely to acquire B. hominis infection after settling in the country. These conclusions have important implications for the health

  16. Characterising the aetiology of severe acute gastroenteritis among patients visiting a hospital in Qatar using real-time polymerase chain reaction

    PubMed Central

    2013-01-01

    Background Acute gastroenteritis (AGE) remains a common cause of clinic visits and hospitalizations, though its aetiology has not been determined in Qatar. Methods We performed a prospective, emergency department–based study of 288 children and adults with AGE. Stool specimens were collected at presentation from June to November 2009. Faecal specimens were tested, using real-time PCR, for a panel of four viral (norovirus, adenovirus, astrovirus and rotavirus) and bacterial pathogens. Results Viral and bacterial pathogens were detected in 131 (45.5%) and 34 (12.2%) of the 288 patients recruited. The most commonly detected pathogens were norovirus (28.5%), rotavirus (10.4%), followed by adenovirus (6.25%) and astrovirus (0.30%). Norovirus was the most commonly detected viral pathogen amongst all the age groups with an almost even distribution in all age groups. Rotavirus and adenovirus were more common in children under 5 yr of age. Astrovirus was found in only one person. Conclusions Viruses, especially noroviruses, are associated with severe diarrhoea in children and adults in Qatar. Further studies to confirm the findings and to explore the causes of illness among patients from whom a pathogen cannot be determined are needed. PMID:23865805

  17. Geology and hydrocarbon potential in the state of Qatar, Arabian Gulf

    SciTech Connect

    Alsharhan, A.S. ); Nairn, A.E.M. )

    1990-05-01

    The state of Qatar is situated in the southern Arabian Gulf and covers an area of 12,000 km{sup 2}. It is formed by a large, broad anticline, which is part of the regional south-southwest-north-northeast-trending Qatar-South Fars arch. The arch separates the two Infracambrian salt basins. The Dukhan field was the first discovery, made in 1939, in the Upper Jurassic limestones. Since then, a series of discoveries have been made so that Qatar has become one of the leading OPEC oil states. Hydrocarbon accumulations are widely dispersed throughout the stratigraphic column from upper Paleozoic to Cretaceous producing strata. The most prolific reservoirs are the Permian and Mesozoic shelf carbonate sequences. Minor clastic reservoirs occur in the Albian and Paleozoic sequences. Seals, mainly anhydrite and shale. occur both intraformationally and regionally. Several stratigraphic intervals contain source rocks or potential source rocks. The Silurian shales arc the most likely source of the hydrocarbon stored in the upper Paleozoic clastics and carbonates. The upper Oxfordian-middle Kimmeridgian rocks formed in the extensive starved basin during the Mesozoic period of sea level rise. Total organic carbon ranges between 1 and 6%, with the sulfur content approximately 9%. The source material consists of sapropelic liptodetrinite and algae. The geological background of the sedimentary facies through geologic time, stratigraphy, and structural evolution which control source, and the subsequent timing and migration of large-scale hydrocarbon generation are presented in detail.

  18. Perception and intentions to quit among waterpipe smokers in Qatar: a cross-sectional survey

    PubMed Central

    Jaam, M.; Al-Marridi, W.; Fares, H.; Izham, M.; Kheir, N.

    2016-01-01

    Objective: To evaluate the perceptions and attitudes of waterpipe (shisha) smokers in Qatar regarding the health risks associated with addiction and to determine their intentions to quit. Methods: A cross-sectional survey was conducted among 181 self-reported waterpipe smokers. Participants were approached in public places as well as in shisha cafes in Qatar. The questionnaire included items related to perception, attitude and intention to quit. Both descriptive and inferential statistics were performed for data analyses, with P ≤ 0.05 considered statistically significant. Results: About 44% of the respondents believed that waterpipe smoking was safer than cigarette smoking, and more than 70% would not mind if their children became involved in waterpipe smoking. More than half of the current smokers wanted to quit smoking shisha at some point, and 17% identified health concerns as the main motivating factor for their intention to quit. Conclusion: A large proportion of shisha smokers viewed shisha as a safer alternative to cigarettes, yet they admitted to intending to quit. These findings underscore the need to design educational interventions and awareness campaigns as well as impose stringent laws on waterpipe smoking in public places in Qatar. PMID:27051611

  19. A road map to Translational Medicine in Qatar and a model for the world

    PubMed Central

    2012-01-01

    Translational Medicine (TM) in Qatar is part of a concerted effort of the Qatari medical and scientific leadership supported by a strong political will by Qatari authorities to deliver world-class health care to Qatari residents while participating in the worldwide quest to bridge the gap between bench-to-bedside-to-community. TM programs should embrace the Qatar National vision for research to become an international hub of excellence in research and development, based on intellectual merit, contributing to global knowledge and adhering to international standards, to innovate by translating new and original ideas into useful applications, to be inclusive at the national and international level, to build and maintain a competitive and diversified economy and ultimately improve the health and well-being of the Qatar’s population. Although this writing focuses on Qatar, we hope that the thoughts expressed here may be of broader use for the development of any TM program particularly in regions where an established academic community surrounded by a rich research infrastructure and/or a vibrant biotechnology enterprise is not already present. PMID:22929646

  20. Genetic studies of Unverricht-Luendborg disease

    SciTech Connect

    Lafreniere, R.G.; Dube, M.P.; Rouleau, G.A.

    1994-09-01

    Unverricht-Luendborg disease (ULD) is a progressive myoclonus epilepsy with an age of onset between 6 and 13 years, myoclonic jerks that progressively worsen, and mental deterioration. ULD shows an autosomal recessive mode of inheritance. The ULD gene has been genetically linked to 21q22.3, and more recently estimated to lie within 0.3 cM of the markers PFKL, D21S25, and D21S154, based on linkage disequilibrium. We have previously identified eight families affected with ULD and shown linkage to 21q22.3. In our efforts to identify the metabolic basis of the disease, we have identified several other families with ULD and are testing them for linkage to 21q22.3 We are also constructing a cosmid and YAC contig of the candidate EPM1 region in 21q22.3 and are in the process of identifying candidate genes therefrom.

  1. ALS: Recent Developments from Genetics Studies.

    PubMed

    Therrien, Martine; Dion, Patrick A; Rouleau, Guy A

    2016-06-01

    Amyotrophic lateral sclerosis (ALS) is a fatal disorder that is characterized by a progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10 % of cases have a family history of the disease. High-throughput DNA sequencing and related genomic capture tools are methodological advances which have rapidly contributed to an acceleration in the discovery of genetic risk factors for both familial and sporadic ALS. It is interesting to note that as the number of ALS genes grows, many of the proteins they encode are in shared intracellular processes. This review will summarize some of the recent advances and gene discovery made in ALS. PMID:27113253

  2. Medical education and research environment in Qatar: a new epoch for translational research in the Middle East

    PubMed Central

    2011-01-01

    Recent advances in medical technology and key discoveries in biomedical research have the potential to improve human health in an unprecedented fashion. As a result, many of the Arab Gulf countries, particularly Qatar are devoting increasing resources toward establishing centers of excellence in biomedical research. However, there are challenges that must be overcome. The low profile of private medical institutions and their negligible endowments in the region are examples of such challenges. Business-type government controlled universities are not the solution for overcoming the challenges facing higher education and research programs in the Middle East. During the last decade, Qatar Foundation for Education, Science and Community Development has attracted six branch campuses of American Institutions of higher learning to the Education City in Qatar, a 2500-acre area, which is rapidly becoming a model of integrating higher education and research in the region. Not-for profit, time-tested education institutions from abroad in public-private partnership with local organizations offer favorable conditions to build robust research programs in the region. Weill Cornell Medical College in Qatar (WCMC-Q) of Cornell University is an example such an institution. It is the first and only medical school in Qatar. WCMC-Q's interwoven education, research and public health based framework lays a sturdy foundation for developing and implementing translational medicine research programs of importance to the State of Qatar and Middle Eastern nations. This approach is yielding positive results. Discoveries from this program should influence public policy in a positive fashion toward reducing premature mortality and morbidity due to diabetes, obesity, heart disease and cancer, examples of health conditions commonly encountered in Qatar. PMID:21272322

  3. Multiple Comparisons in Genetic Association Studies: A Hierarchical Modeling Approach

    PubMed Central

    Yi, Nengjun; Xu, Shizhong; Lou, Xiang-Yang; Mallick, Himel

    2016-01-01

    Multiple comparisons or multiple testing has been viewed as a thorny issue in genetic association studies aiming to detect disease-associated genetic variants from a large number of genotyped variants. We alleviate the problem of multiple comparisons by proposing a hierarchical modeling approach that is fundamentally different from the existing methods. The proposed hierarchical models simultaneously fit as many variables as possible and shrink unimportant effects towards zero. Thus, the hierarchical models yield more efficient estimates of parameters than the traditional methods that analyze genetic variants separately, and also coherently address the multiple comparisons problem due to largely reducing the effective number of genetic effects and the number of statistically ‘significant’ effects. We develop a method for computing the effective number of genetic effects in hierarchical generalized linear models, and propose a new adjustment for multiple comparisons, the hierarchical Bonferroni correction, based on the effective number of genetic effects. Our approach not only increases the power to detect disease-associated variants but also controls the Type I error. We illustrate and evaluate our method with real and simulated data sets from genetic association studies. The method has been implemented in our freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/). PMID:24259248

  4. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

    PubMed

    Yamamoto, Shinya; Jaiswal, Manish; Charng, Wu-Lin; Gambin, Tomasz; Karaca, Ender; Mirzaa, Ghayda; Wiszniewski, Wojciech; Sandoval, Hector; Haelterman, Nele A; Xiong, Bo; Zhang, Ke; Bayat, Vafa; David, Gabriela; Li, Tongchao; Chen, Kuchuan; Gala, Upasana; Harel, Tamar; Pehlivan, Davut; Penney, Samantha; Vissers, Lisenka E L M; de Ligt, Joep; Jhangiani, Shalini N; Xie, Yajing; Tsang, Stephen H; Parman, Yesim; Sivaci, Merve; Battaloglu, Esra; Muzny, Donna; Wan, Ying-Wooi; Liu, Zhandong; Lin-Moore, Alexander T; Clark, Robin D; Curry, Cynthia J; Link, Nichole; Schulze, Karen L; Boerwinkle, Eric; Dobyns, William B; Allikmets, Rando; Gibbs, Richard A; Chen, Rui; Lupski, James R; Wangler, Michael F; Bellen, Hugo J

    2014-09-25

    Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human data sets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. PMID:25259927

  5. A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

    PubMed Central

    Yamamoto, Shinya; Jaiswal, Manish; Charng, Wu-Lin; Gambin, Tomasz; Karaca, Ender; Mirzaa, Ghayda; Wiszniewski, Wojciech; Sandoval, Hector; Haelterman, Nele A.; Xiong, Bo; Zhang, Ke; Bayat, Vafa; David, Gabriela; Li, Tongchao; Chen, Kuchuan; Gala, Upasana; Harel, Tamar; Pehlivan, Davut; Penney, Samantha; Vissers, Lisenka E. L. M.; de Ligt, Joep; Jhangiani, Shalini; Xie, Yajing; Tsang, Stephen H.; Parman, Yesim; Sivaci, Merve; Battaloglu, Esra; Muzny, Donna; Wan, Ying-Wooi; Liu, Zhandong; Lin-Moore, Alexander T.; Clark, Robin D.; Curry, Cynthia J.; Link, Nichole; Schulze, Karen L.; Boerwinkle, Eric; Dobyns, William B.; Allikmets, Rando; Gibbs, Richard A.; Chen, Rui; Lupski, James R.; Wangler, Michael F.; Bellen, Hugo J.

    2014-01-01

    Summary Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X-chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human datasets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. PMID:25259927

  6. EEG longitudinal studies in febrile convulsions. Genetic aspects.

    PubMed

    Doose, H; Ritter, K; Völzke, E

    1983-05-01

    It was the purpose of the study to obtain viewpoints on the genetics of febrile convulsions and their relationship to epilepsy by EEG long term follow up. 89 children with febrile convulsions could be followed up to the age of 11 to 13 years (in total 1046 EEG records). The study was concentrated on genetically determined EEG patterns: bilaterally synchronous spikes and waves, photosensitivity and 4-7 cps rhythms. The statistical evaluation was based on standards derived from known strict age dependence of the different patterns. Theta rhythms were found in 54%, spikes and waves of the resting record in 49% and photosensitivity in 42%. In total, genetically determined EEG patterns were found in 81% of the cases which were sufficiently investigated according to given standards. Spikes and waves are strongly age dependent with a maximum at the age of 5-6 years and appear very inconstantly. Theta rhythms and spikes and waves are closely correlated. Spikes and waves are a heterogeneous phenomenon. The type described here must be interpreted as a facultative symptom of the same functional anomaly which forms the basis of 4-7 cps rhythms. The possible pathophysiological basis of the pattern is discussed.--Photosensitivity is interpreted as the symptom of a genetically independent pathogenetic mechanism, which can lead to additive effects by interaction with other genetic abnormalities as well as exogenous factors.--The pathogenesis of febrile convulsions is multifactorial in the strict sense. While the exogenous pathogenetic factors are rather uniform, the genetic predisposition apparently is not. It is based on different genetic anomalies. Each of them is polygenically determined. In the individual case one or different factors can be involved. The genetic predisposition to febrile convulsions is definitely not only polygenic, but of heterogeneous nature. Finally the genetic relationship between febrile convulsions and epilepsy is discussed. PMID:6877532

  7. A systematic study of genetic algorithms with genotype editing

    SciTech Connect

    Huang, C. F.; Rocha, L. M.

    2004-01-01

    This paper presents our systematic study on an RNA-editing computational model of Genetic Algorithms (GA). This model is constructed based on several genetic editing characteristics that are gleaned from the RNA editing system as observed in several organisms. We have expanded the traditional Genetic Algorithm with artificial editing mechanisms as proposed by [15]. The incorporation of editing mechanisms provides a means for artificial agents with genetic descriptions to gain greater phenotypic plasticity, which may be environmentally regulated. The systematic study of this RNA-editing model has shed some light into the evolutionary implications of RNA editing and how to select proper RNA editors for design of more robust GAS. The results will also show promising applications to complex real-world problems. We expect that the framework proposed will both facilitate determining the evolutionary role of RNA editing in biology, and advance the current state of research in Evolutionary Computation.

  8. SNPTrack™ : an integrated bioinformatics system for genetic association studies.

    PubMed

    Xu, Joshua; Kelly, Reagan; Zhou, Guangxu; Turner, Steven A; Ding, Don; Harris, Stephen C; Hong, Huixiao; Fang, Hong; Tong, Weida

    2012-01-01

    A genetic association study is a complicated process that involves collecting phenotypic data, generating genotypic data, analyzing associations between genotypic and phenotypic data, and interpreting genetic biomarkers identified. SNPTrack is an integrated bioinformatics system developed by the US Food and Drug Administration (FDA) to support the review and analysis of pharmacogenetics data resulting from FDA research or submitted by sponsors. The system integrates data management, analysis, and interpretation in a single platform for genetic association studies. Specifically, it stores genotyping data and single-nucleotide polymorphism (SNP) annotations along with study design data in an Oracle database. It also integrates popular genetic analysis tools, such as PLINK and Haploview. SNPTrack provides genetic analysis capabilities and captures analysis results in its database as SNP lists that can be cross-linked for biological interpretation to gene/protein annotations, Gene Ontology, and pathway analysis data. With SNPTrack, users can do the entire stream of bioinformatics jobs for genetic association studies. SNPTrack is freely available to the public at http://www.fda.gov/ScienceResearch/BioinformaticsTools/SNPTrack/default.htm. PMID:23245293

  9. A rangewide population genetic study of trumpeter swans

    USGS Publications Warehouse

    Oyler-McCance, S.J.; Ransler, F.A.; Berkman, L.K.; Quinn, T.W.

    2007-01-01

    For management purposes, the range of naturally occurring trumpeter swans (Cygnus buccinator) has been divided into two populations, the Pacific Coast Population (PP) and the Rocky Mountain Population (RMP). Little is known about the distribution of genetic variation across the species' range despite increasing pressure to make difficult management decisions regarding the two populations and flocks within them. To address this issue, we used rapidly evolving genetic markers (mitochondrial DNA sequence and 17 nuclear microsatellite loci) to elucidate the underlying genetic structure of the species. Data from both markers revealed a significant difference between the PP and RMP with the Yukon Territory as a likely area of overlap. Additionally, we found that the two populations have somewhat similar levels of genetic diversity (PP is slightly higher) suggesting that the PP underwent a population bottleneck similar to a well-documented one in the RMP. Both genetic structure and diversity results reveal that the Tri-State flock, a suspected unique, non-migratory flock, is not genetically different from the Canadian flock of the RMP and need not be treated as a unique population from a genetic standpoint. Finally, trumpeter swans appear to have much lower mitochondrial DNA variability than other waterfowl studied thus far which may suggest a previous, species-wide bottleneck. ?? 2007 Springer Science+Business Media, Inc.

  10. Combining genetic association study designs: a GWAS case study.

    PubMed

    Estus, Janice L; Fardo, David W

    2013-01-01

    Genome-wide association studies (GWAS) explore the relationship between genome variability and disease susceptibility with either population- or family-based data. Here, we have evaluated the utility of combining population- and family-based statistical association tests and have proposed a method for reducing the burden of multiple testing. Unrelated singleton and parent-offspring trio cases and controls from the Genetics of Kidneys in Diabetes (GoKinD) study were analyzed for genetic association with diabetic nephropathy (DN) in type 1 diabetics (T1D). The Cochran-Armitage test for trend and the family-based association test were employed using either unrelated cases and controls or trios, respectively. In addition to combining single nucleotide polymorphism (SNP) p-values across these tests via Fisher's method, we employed a novel screening approach to rank SNPs based on conditional power for more efficient testing. Using either the population-based or family-based subset alone predictably limited resolution to detect DN SNPs. For 384,197 SNPs passing quality control (QC), none achieved strict genome-wide significance (1.4 × 10(-7)) using 1171 singletons (577/594 cases/controls) or 1738 pooled singletons and offspring probands (841/897). Similarly, none of the 352,004 SNPs passing QC in 567 family trios (264/303 case/control proband trios) reached genome-wide significance. Testing the top 10 SNPs ranked using aggregated conditional power resulted in two SNPs reaching genome-wide significance, rs11645147 on chromosome 16 (p = 1.74 × 10(-4) < 0.05/10 = 0.005) and rs7866522 on chromosome 9 (p = 0.0033). Efficient usage of mixed designs incorporating both unrelated and family-based data may help to uncover associations otherwise difficult to detect in the presence of massive multiple testing corrections. Capitalizing on the strengths of both types while using screening approaches may be useful especially in light of large-scale, next-generation sequencing and rare

  11. Genetically Engineered Mouse Models for Studying Inflammatory Bowel Disease

    PubMed Central

    Mizoguchi, Atsushi; Takeuchi, Takahito; Himuro, Hidetomo; Okada, Toshiyuki; Mizoguchi, Emiko

    2015-01-01

    Inflammatory bowel disease (IBD) is a chronic intestinal inflammatory condition that is mediated by very complex mechanisms controlled by genetic, immune, and environmental factors. More than 74 kinds of genetically engineered mouse strains have been established since 1993 for studying IBD. Although mouse models cannot fully reflect human IBD, they have provided significant contributions for not only understanding the mechanism, but also developing new therapeutic means for IBD. Indeed, 20 kinds of genetically engineered mouse models carry the susceptibility genes identified in human IBD, and the functions of some other IBD susceptibility genes have also been dissected out using mouse models. Cutting-edge technologies such as cell-specific and inducible knockout systems, which were recently employed to mouse IBD models, have further enhanced the ability of investigators to provide important and unexpected rationales for developing new therapeutic strategies for IBD. In this review article, we briefly introduce 74 kinds of genetically engineered mouse models that spontaneously develop intestinal inflammation. PMID:26387641

  12. Molecular Genetic Strategies in the Study of Corticohippocampal Circuits.

    PubMed

    Angelakos, Christopher C; Abel, Ted

    2015-07-01

    The first reproductively viable genetically modified mice were created in 1982 by Richard Palmiter and Ralph Brinster (Palmiter RD, Brinster RL, Hammer RE, Trumbauer ME, Rosenfeld MG, Birnberg NC, Evans RM. 1982. Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. Nature 300: 611-615). In the subsequent 30 plus years, numerous ground-breaking technical advancements in genetic manipulation have paved the way for improved spatially and temporally targeted research. Molecular genetic studies have been especially useful for probing the molecules and circuits underlying how organisms learn and remember—one of the most interesting and intensively investigated questions in neuroscience research. Here, we discuss selected genetic tools, focusing on corticohippocampal circuits and their implications for understanding learning and memory. PMID:26134320

  13. Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results from a Prospective, Longitudinal Genetic Counseling and Testing Study

    ERIC Educational Resources Information Center

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

  14. Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals.

    PubMed

    Kowal, Emma; Gallacher, Lyndon; Macciocca, Ivan; Sahhar, Margaret

    2015-08-01

    Indigenous populations are thought to have particularly low levels of access to genetic health services, and cultural issues may be a contributing factor. This article presents the findings of the first study of genetic health service provision to Indigenous Australians. This qualitative study aimed to identify elements of culturally-competent genetic health service provision in Indigenous Australian contexts. Twelve semi-structured interviews were conducted with genetic counselors and clinical geneticists from around Australia who had delivered services to Indigenous Australians. Participants were asked to describe their experiences and identify any collective cultural needs of Indigenous clients, as well as comment on specific training and resources they had received or used. Interviews were audio-recorded and transcribed with thematic analysis conducted on the data. The findings show that participants were reluctant to generalize the needs of Indigenous peoples. Some participants asserted that Indigenous peoples have needs that differ from the general population, while others felt that there were no collective cultural needs, instead advocating an individualized approach. Being flexible and practical, taking time to build rapport, recognizing different family structures and decision-making processes, as well as socio-economic disadvantage were all identified as important factors in participants' interactions with Indigenous clients. Indigenous support workers and hospital liaison officers were seen as valuable resources for effective service provision. The implications of this study for training and practice are discussed. PMID:25348084

  15. Consent for genetic research in the Framingham Heart Study.

    PubMed

    Levy, Daniel; Splansky, Greta Lee; Strand, Nicolle K; Atwood, Larry D; Benjamin, Emelia J; Blease, Susan; Cupples, L Adrienne; D'Agostino, Ralph B; Fox, Caroline S; Kelly-Hayes, Margaret; Koski, Greg; Larson, Martin G; Mutalik, Karen M; Oberacker, Elizabeth; O'Donnell, Christopher J; Sutherland, Patrice; Valentino, Maureen; Vasan, Ramachandran S; Wolf, Philip A; Murabito, Joanne M

    2010-05-01

    Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease, including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investigators. To study this we calculated percentages of participants who consented to collection of DNA and to various uses of their genetic information in two FHS cohorts between 2002 and 2009. The data included rates of consent for providing a DNA sample, creating an immortalized cell line, conducting research on various genetic conditions including those that might be considered sensitive, and for notifying participants of clinically significant genetic findings were above 95%. Only with regard to granting permission to share DNA or genetic findings with for-profit companies was the consent rate below 95%. We concluded that the FHS has maintained high rates of retention and consent for genetic research that has provided the scientific freedom to establish collaborations and address a broad range of research questions. We speculate that our high rates of consent have been achieved by establishing frequent and open communications with participants that highlight extensive oversight procedures. Our approach to maintaining high consent rates via ethical oversight of genetic research and communication with study participants is summarized in this report and should be of help to other studies engaged in similar types of research. Published 2010 Wiley-Liss, Inc. PMID:20425830

  16. NCI launches largest-ever study of breast cancer genetics in black women

    Cancer.gov

    The Breast Cancer Genetic Study in African-Ancestry Populations initiative is a collaborative research project that will identify genetic factors that may underlie breast cancer disparities. It is the largest study ever to investigate how genetic and biol

  17. WONOEP appraisal: new genetic approaches to study epilepsy

    PubMed Central

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A.; Grisar, Thierry; Gilby, Krista L.; Vinet, Jonathan; Kadam, Shilpa D.; Becker, Albert J.

    2014-01-01

    Objective New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming and optogenetic manipulations within epileptic networks are progressively unravelling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiological impacts of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. Methods This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy in Quebec, Canada. Results Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and have revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell-types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knockdown approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. Genetically-encoded cell-type labeling is also providing new means to assess the role of the non-neuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and non

  18. WONOEP appraisal: new genetic approaches to study epilepsy.

    PubMed

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A; Grisar, Thierry; Gilby, Krista L; Vinet, Jonathan; Kadam, Shilpa D; Becker, Albert J

    2014-08-01

    New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming, and optogenetic manipulations within epileptic networks are progressively unraveling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiologic effects of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy (WONOEP 2013) in Quebec, Canada. Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and has revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knock-down approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type-specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. In addition, genetically encoded cell-type labeling is providing new means to assess the role of the nonneuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and noncoding

  19. Genetic disorders in children and young adults: a population study.

    PubMed Central

    Baird, P A; Anderson, T W; Newcombe, H B; Lowry, R B

    1988-01-01

    The data base of an ongoing population-based registry with multiple sources of ascertainment was used to estimate the present population load from genetic disease in more than 1 million consecutive live births. It was found that, before approximately age 25 years, greater than or equal to 53/1,000 live-born individuals can be expected to have diseases with an important genetic component. This total was composed of single-gene disorders (3.6/1,000), consisting of autosomal dominant (1.4/1,000), autosomal recessive (1.7/1,000), and X-linked recessive disorders (0.5/1,000). Chromosomal anomalies accounted for 1.8/1,000, multifactorial disorders (including those present at birth and those of onset before age 25 years) accounted for 46.4/1,000, and cases of genetic etiology in which the precise mechanism was not identified accounted for 1.2/1,000. Previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, but only those judged to fit into one of the above categories were included in the present study. Data for congenital anomalies are therefore also presented separately, to facilitate comparison with earlier studies. If all congenital anomalies are considered as part of the genetic load, then greater than or equal to 79/1,000 live-born individuals have been identified as having one or other genetic disorder before approximately age 25 years. These new data represent a better estimate of the genetic load in the population than do previous studies. PMID:3358420

  20. Consortium-Based Genetic Studies of Kawasaki Disease in Korea: Korean Kawasaki Disease Genetics Consortium

    PubMed Central

    Hong, Young Mi; Jang, Gi Young; Yun, Sin Weon; Yu, Jeong Jin; Yoon, Kyung Lim; Lee, Kyung-Yil; Kil, Hong-Rang

    2015-01-01

    In order to perform large-scale genetic studies of Kawasaki disease (KD) in Korea, the Korean Kawasaki Disease Genetics Consortium (KKDGC) was formed in 2008 with 10 hospitals. Since the establishment of KKDGC, there has been a collection of clinical data from a total of 1198 patients, and approximately 5 mL of blood samples per patient (for genomic deoxyribonucleic acid and plasma isolation), using a standard clinical data collection form and a nation-wide networking system for blood sample pick-up. In the clinical risk factor analysis using the collected clinical data of 478 KD patients, it was found that incomplete KD type, intravenous immunoglobulin (IVIG) non-responsiveness, and long febrile days are major risk factors for coronary artery lesions development, whereas low serum albumin concentration is an independent risk factor for IVIG non-responsiveness. In addition, we identified a KD susceptibility locus at 1p31, a coronary artery aneurysm locus (KCNN2 gene), and the causal variant in the C-reactive protein (CRP) promoter region, as determining the increased CRP levels in KD patients, by means of genome-wide association studies. Currently, this consortium is continually collecting more clinical data and genomic samples to identify the clinical and genetic risk factors via a single nucleotide polymorphism chip and exome sequencing, as well as collaborating with several international KD genetics teams. The consortium-based approach for genetic studies of KD in Korea will be a very effective way to understand the unknown etiology and causal mechanism of KD, which may be affected by multiple genes and environmental factors. PMID:26617644

  1. Physician and medical student perceptions and expectations of the pediatric clerkship: a Qatar experience

    PubMed Central

    Hendaus, Mohamed A; Khan, Shabina; Osman, Samar; Alsamman, Yasser; Khanna, Tushar; Alhammadi, Ahmed H

    2016-01-01

    Background The average number of clerkship weeks required for the pediatric core rotation by the US medical schools is significantly lower than those required for internal medicine or general surgery. Objective The objective behind conducting this survey study was to explore the perceptions and expectations of medical students and pediatric physicians about the third-year pediatric clerkship. Methods An anonymous survey questionnaire was distributed to all general pediatric physicians at Hamad Medical Corporation and to students from Weill Cornell Medical College-Qatar. Results Feedback was obtained from seven attending pediatricians (100% response rate), eight academic pediatric fellow physicians (100% response rate), 36 pediatric resident physicians (60% response rate), and 36 medical students (60% response rate). Qualitative and quantitative data values were expressed as frequencies along with percentages and mean ± standard deviation and median and range. A P-value <0.05 from a 2-tailed t-test was considered to be statistically significant. Participants from both sides agreed that medical students receive <4 hours per week of teaching, clinical rounds is the best environment for teaching, adequate bedside is provided, and that there is no adequate time for both groups to get acquainted to each other. On the other hand, respondents disagreed on the following topics: almost two-thirds of medical students perceive postgraduate year 1 and 2 pediatric residents as the best teachers, compared to 29.4% of physicians; 3 weeks of inpatient pediatric clerkship is enough for learning; the inpatient pediatric environment is safe and friendly; adequate feedback is provided by physicians to students; medical students have accessibility to physicians; students are encouraged to practice evidence-based medicine; and students get adequate exposure to multi-professional teams. Conclusion Assigning devoted physicians for education, providing proper job description or definition

  2. Recruiting American Indian Women for a Genetic Epidemiology Study

    PubMed Central

    Nadeau, M.; Best, L.

    2010-01-01

    Due to previous negative experiences, some American Indian communities are distrustful of research in general and genetic research in particular. The Turtle Mountain Community College was awarded a National Institutes of Health (NIH) grant with 3 aims: (1) to study possible genetic influences on pre-eclampsia, (2) to encourage tribal college students to consider biomedical careers and (3) to develop the local research infrastructure. Retrospectively identified case (91) and control (188) participants were recruited into Phase I over a 3-year period and additional participants (71) were concurrently recruited from a prenatal clinic into a prospective case/control study, Phase II. This paper describes some of the challenges and solutions we encountered in the process of recruiting American Indian participants into a genetic epidemiologic study. PMID:20616521

  3. International note: exploring differences in native and immigrant adolescents' mathematics achievement and dispositions towards mathematics in Qatar.

    PubMed

    Areepattamannil, Shaljan; Melkonian, Michael; Khine, Myint Swe

    2015-04-01

    The burgeoning immigrant population in major immigrant-receiving countries in North America and Europe has necessitated researchers and policymakers in these countries to examine the academic success of children of immigration and the factors contributing to their academic success. However, there is sparse research on the academic trajectories of children of immigration in other continents, such as Asia. Hence, the purpose of the present study was to examine first- and second-generation immigrant adolescents' mathematics achievement and dispositions towards mathematics in comparison to their native peers in one of the Middle Eastern countries in Asia, Qatar. The results of the study indicated that both first- and second-generation immigrant adolescents tended to have higher mathematics achievement, intrinsic motivation to learn mathematics, instrumental motivation to learn mathematics, mathematics self-efficacy, and mathematics self-concept than did their native counterparts. Moreover, immigrant adolescents tended to have lower mathematics anxiety than did their native peers. The study also revealed significant differences between first- and second-generation immigrant adolescents with respect to their mathematics achievement and dispositions towards mathematics. PMID:25600511

  4. Does Childhood Anxiety Evoke Maternal Control? A Genetically Informed Study

    ERIC Educational Resources Information Center

    Eley, Thalia C.; Napolitano, Maria; Lau, Jennifer Y. F.; Gregory, Alice M.

    2010-01-01

    Background: Despite theoretical and empirical support for an association between maternal control and child anxiety, few studies have examined the origins of this association. Furthermore, none use observer-ratings of maternal control within a genetically informative design. This study addressed three questions: 1) do children who experience…

  5. Stoppage Rules and Genetic Studies of Autism.

    ERIC Educational Resources Information Center

    Jones, Marshall B.; Szatmari, Peter

    1988-01-01

    "Stoppage rules" (responses of parents to the question of having more children when a child has been born seriously handicapped) are discussed. The paper shows that application of stoppage rules to a recent study of 46 families shows that the segregation ratio was underestimated in the original report. (Author/DB)

  6. Genetic and environmental influences on disordered eating: An adoption study.

    PubMed

    Klump, Kelly L; Suisman, Jessica L; Burt, S Alexandra; McGue, Matt; Iacono, William G

    2009-11-01

    Twin studies indicate significant genetic, but little shared environmental, influences on eating disorders. However, critics argue that study limitations constrain the conclusions that can be drawn. Adoption studies avoid many of these limitations, but to date, no adoption studies of eating pathology have been conducted. The current study was the first adoption study to examine genetic/environmental effects for disordered eating. Participants included 123 adopted and 56 biological female sibling pairs. Disordered eating (i.e., overall eating pathology, body dissatisfaction, weight preoccupation, binge eating) was assessed with the Minnesota Eating Behaviors Survey (Klump, McGue, & Iacono, 2000; von Ranson, Klump, Iacono, & McGue, 2005). Biometric model fitting indicated significant genetic influences (59%-82%) on all forms of disordered eating, with nonshared environmental factors accounting for the remaining variance. Shared environmental factors did not contribute significantly to any disordered eating symptom. Our findings bolster those from twin studies and provide critical evidence of significant genetic effects on disordered eating symptoms. PMID:19899849

  7. Why Is Studying the Genetics of Intelligence So Controversial?

    PubMed

    Tabery, James

    2015-01-01

    From the very beginning, studies of the nature and nurture of intelligence have been closely associated with an interest in intervening, and those interventions have been surrounded by controversy. The nature of those controversies has not always been the same, however. Since the mid-nineteenth century, when Francis Galton imagined a science that would assess the extent to which a trait like "genius" was due to nature or due to nurture, science and technology have changed dramatically, and so have the interventions that have been envisioned in light of those developments. A scientist today can search for particular stretches of DNA and assess whether differences in those stretches are associated with differences in a human trait of interest; a genetic counselor today can genetically test an individual (be it an embryo, fetus, newborn, child, or adult) and provide information about what that genetic result means, allowing for interventions that can range from terminating a pregnancy to prescribing chemotherapy. So when one asks a question like, "Why is studying the genetics of intelligence controversial?," it is important to realize up front that the answer will be, "It can be controversial for a variety of different reasons, and those reasons have evolved over time." The purpose of this essay is to provide a survey of the controversies that surround genetic studies of intelligence. With the survey in place, I will then draw out several lessons both for scientists who study the genetics of intelligence as well as for science studies scholars (bioethicists, philosophers, historians, sociologists) who reflect and comment on the controversies surrounding that research. PMID:26413953

  8. Toxoplasma gondii Seropositivity and Co-Infection with TORCH Pathogens in High-Risk Patients from Qatar

    PubMed Central

    Abu-Madi, Marawan A.; Behnke, Jerzy M.; Dabritz, Haydee A.

    2010-01-01

    Testing of patients who are deemed to be at high risk for TORCH pathogens, e.g., pregnant women, their fetuses, neonates, and acquired immunodeficiency syndrome (AIDS) patients, is important so that specific treatment can be initiated. This study included 1,857 such patients between 2005 and 2008. Logistic regression was used to evaluate factors associated with Toxoplasma gondii seropositivity. Among 823 women of childbearing age, 35.1% and 5.2% tested positive for T. gondii IgG and IgM, respectively. Three infants ≤ 6 months of age (0.8% of 353) were congenitally infected. Factors associated with T. gondii IgG seropositivity included older age, East Mediterranean or African nationality, positive cytomegalovirus (CMV) and herpes simplex virus (HSV)-1 serostatus, and negative rubella IgG results. The decreasing prevalence of IgM antibodies between 2005 and 2008 suggested that exposure to T. gondii from food or environmental sources declined over this period in Qatar. Population-based studies of newborns would be helpful to accurately estimate incidence of congenital toxoplasmosis. PMID:20348511

  9. Sequencing studies in human genetics: design and interpretation

    PubMed Central

    Goldstein, David B.; Allen, Andrew; Keebler, Jonathan; Margulies, Elliott H.; Petrou, Steven; Petrovski, Slavé; Sunyaev, Shamil

    2014-01-01

    Next-gene ration sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are now poised to identify the mutations that cause undiagnosed childhood genetic diseases and those that predispose individuals to more common complex diseases. There are, however, growing concerns that the complexity and magnitude of complete sequence data could lead to an explosion of weakly justified claims of association between genetic variants and disease. Here, we provide an overview of the basic workflow in next-generation sequencing studies and emphasize, where possible, measures and considerations that facilitate accurate inferences from human sequencing studies. PMID:23752795

  10. Reverse Genetics System for Studying Human Rhinovirus Infections

    PubMed Central

    Lee, Wai-Ming; Wang, Wensheng; Bochkov, Yury A; Lee, Iris

    2015-01-01

    SUMMARY Human rhinovirus (HRV) contains a 7.2 Kb messenger-sense RNA genome which is the template for reproducing progeny viruses after it enters the cytoplasm of a host cell. Reverse genetics refers to the regeneration of progeny viruses from an artificial cDNA copy of the RNA genome of an RNA virus. It has been a powerful molecular genetic tool for studying HRV and other RNA viruses because the artificial DNA stage makes it practical to introduce specific mutations into the viral RNA genome. This chapter uses HRV-16 as the model virus to illustrate the strategy and the methods for constructing and cloning the artificial cDNA copy of a full-length HRV genome, identifying the infectious cDNA clone isolates, and selecting the most vigorous cDNA clone isolate to serve as the standard parental clone for future molecular genetic study of the virus. PMID:25261313

  11. Genetic studies of Crohn's disease: Past, present and future

    PubMed Central

    Liu, Jimmy Z.; Anderson, Carl A.

    2014-01-01

    The exact aetiology of Crohn's disease is unknown, though it is clear from early epidemiological studies that a combination of genetic and environmental risk factors contributes to an individual's disease susceptibility. Here, we review the history of gene-mapping studies of Crohn's disease, from the linkage-based studies that first implicated the NOD2 locus, through to modern-day genome-wide association studies that have discovered over 140 loci associated with Crohn's disease and yielded novel insights into the biological pathways underlying pathogenesis. We describe on-going and future gene-mapping studies that utilise next generation sequencing technology to pinpoint causal variants and identify rare genetic variation underlying Crohn's disease risk. We comment on the utility of genetic markers for predicting an individual's disease risk and discuss their potential for identifying novel drug targets and influencing disease management. Finally, we describe how these studies have shaped and continue to shape our understanding of the genetic architecture of Crohn's disease. PMID:24913378

  12. [Studies on genetic relationship of Dioscorea].

    PubMed

    Huang, Han-han; Li, Xia; Gao, Wen-yuan; Xiao, Pei-gen

    2015-09-01

    Based on the results of the morphologic studies on genus Dioscorea, the paper summarized the entire chemical constituent that isolated from this genus and analyzed it with the methods of chemotaxonomy. The rules of the chemical constituent and pharmacodynamic effects were analyzed. Seventeen species which belong to Sect. Stenophora Uline of Dioscorea contain steroidal sapogenin. Other species with different main components such as polysaccharide and tannin have have different effects. This chemotaxonomic view point will conduce to establish a phylogeny of the genus Dioscorea. PMID:26978991

  13. Changing trends in intestinal parasitic infections among long-term-residents and settled immigrants in Qatar

    PubMed Central

    2010-01-01

    Background The rapid socio-economic development in Qatar in the last two decades has encouraged a mass influx of immigrant workers, the majority of whom originate from countries with low socio-economic levels, inadequate medical care and many are known to carry patent intestinal helminth and protozoan infections on arrival in Qatar. Some eventually acquire residency status but little is known about whether they continue to harbour infections. Methods We examined 9208 hospital records of stool samples that had been analysed for the presence of intestinal helminth and protozoan ova/cysts, over the period 2005-2008, of subjects from 28 nationalities, but resident in Qatar and therefore not recent arrivals in the country. Results Overall 10.2% of subjects were infected with at least one species, 2.6% with helminths and 8.0% with protozoan species. Although hookworms, Ascaris lumbricoides, Trichuris trichiura and Hymenolepis nana were observed, the majority of helminth infections (69%) were caused by hookworms, and these were largely aggregated among 20.0-39.9 year-old male subjects from Nepal. The remaining cases of helminth infection were mostly among Asian immigrants. Protozoan infections were more uniformly spread across immigrants from different regions when prevalence was calculated on combined data, but this disguised three quite contrasting underlying patterns for 3 taxa of intestinal protozoa. Blastocystis hominis, Giardia duodenalis and non-pathogenic amoebae were all acquired in childhood, but whereas prevalence of B. hominis rose to a plateau and then even further among the elderly, prevalence of G. duodenalis fell markedly in children aged 10 and older, and stayed low (< 2%) gradually falling even further in the elderly. In contrast the prevalence of non-pathogenic amoebae (Entamoeba coli, E. hartmanni, Endolimax nana and Iodamoeba buetschlii) peaked in the 30.0-39.9 age group and only then dropped to very low values among the oldest subjects examined. A

  14. Hypoxia in the central Arabian Gulf Exclusive Economic Zone (EEZ) of Qatar during summer season

    NASA Astrophysics Data System (ADS)

    Al-Ansari, Ebrahim M. A. S.; Rowe, G.; Abdel-Moati, M. A. R.; Yigiterhan, O.; Al-Maslamani, I.; Al-Yafei, M. A.; Al-Shaikh, I.; Upstill-Goddard, R.

    2015-06-01

    One of the most fascinating and unexpected discoveries during the Qatar University Marine Expeditions to the marine Exclusive Economic Zone (EEZ) of Qatar in 2000-2001, was the detection of a hypoxic water layer in the central region of the Arabian Gulf in waters deeper than 50 m. Hypoxia was defined as the region where the concentration of dissolved oxygen was less than 2 mg L-1. This article presents the discovery of hypoxia in the Arabian Gulf, based on samples collected (mainly during evening or night time) from vertical profiles along transects of the EEZ of Qatar and analyzed for physico-chemical properties, nutrients and chlorophyll-a. Hypoxia occurred in the summer months caused by an interaction between physical stratification of the water column that prevents oxygen replenishment, and biological respiration that consumes oxygen. Strong south-westerly winds (the SW monsoon) from June to September drive the relatively low-salinity nutrient-rich surface water from the Arabian Sea/Arabian Gulf (Sea of Oman) through the Strait of Hormuz into the central-Arabian Gulf, and this surface current penetration fertilizes the deep central-Arabian Gulf during the summer period. A strong seasonal pycnocline is formed between deeper waters at an ambient temperature of 20.9 °C and surface waters at 31.9 °C. This prevents the mixing of supersaturated O2 (>100-130%) water from the upper layer that would otherwise raise concentrations of dissolved oxygen below the thermocline, thus resulting in deep water hypoxia, i.e. dissolved oxygen levels of less than 0.86 ml L-1 at 17.3% saturation. These are the lowest values ever recorded for the Arabian Gulf. The calculated area of hypoxia is around 7220 square kilometers, and occurs in a layer about ≥15 m thick above the sea floor which extends toward the deep part of the Qatar Exclusive Economic Zone (EEZ). The biological consequences of this hypoxia on the sea floor are yet to be investigated.

  15. Potential Genetic Risk Factors for Chronic TMD: Genetic Associations from the OPPERA Case Control Study

    PubMed Central

    Smith, Shad B.; Maixner, Dylan; Greenspan, Joel; Dubner, Ron; Fillingim, Roger; Ohrbach, Richard; Knott, Charles; Slade, Gary; Bair, Eric; Gibson, Dustin G.; Zaykin, Dmitri V.; Weir, Bruce; Maixner, William; Diatchenko, Luda

    2011-01-01

    Genetic factors play a role in the etiology of persistent pain conditions, putatively by modulating underlying processes such as nociceptive sensitivity, psychological well-being, inflammation, and autonomic response. However, to date, only a few genes have been associated with temporomandibular disorders (TMD). This study evaluated 358 genes involved in pain processes, comparing allelic frequencies between 166 cases with chronic TMD and 1442 controls enrolled in the OPPERA (Orofacial Pain: Prospective Evaluation and Risk Assessment) study cooperative agreement. To enhance statistical power, 182 TMD cases and 170 controls from a similar study were included in the analysis. Genotyping was performed using the Pain Research Panel, an Affymetrix gene chip representing 3295 single nucleotide polymorphisms, including ancestry-informative markers that were used to adjust for population stratification. Adjusted associations between genetic markers and TMD case status were evaluated using logistic regression. The OPPERA findings provided evidence supporting previously-reported associations between TMD and two genes: HTR2A and COMT. Other genes were revealed as potential new genetic risk factors for TMD, including NR3C1, CAMK4, CHRM2, IFRD1, and GRK5. While these findings need to be replicated in independent cohorts, the genes potentially represent important markers of risk for TMD and they identify potential targets for therapeutic intervention. PMID:22074755

  16. Structural and physical properties of the dust particles in Qatar and their influence on the PV panel performance

    PubMed Central

    Aïssa, Brahim; Isaifan, Rima J.; Madhavan, Vinod E.; Abdallah, Amir A.

    2016-01-01

    Recently, extensive R&D has been conducted, both by industry and academia, to significantly raise the conversion efficiency of commercial photovoltaic (PV) modules. The installation of PV systems aimed at optimizing solar energy yield is primarily dictated by its geographic location and installation design to maximize solar exposure. However, even when these characteristics have been addressed appropriately, there are other factors that adversely affect the performance of PV systems, namely the temperature-induced voltage decrease leading to a PV power loss, and the dust accumulation (soiling). The latter is the lesser acknowledged factor that significantly influences the performance of PV installations especially in the Middle East region. In this paper we report on the investigation of the structural and physical properties of the desert-dust particles in the State of Qatar. The dust particles were collected directly from the PV panels installed in desert environment and characterized by different techniques, including scanning electron, optical and atomic force microscopies, X-ray diffraction, energy-dispersive, UV-Vis, micro-Raman and Fourier transform infrared spectroscopy. The vibrating sample magnetometry analyses were also conducted to study the magnetic properties of the dust particles. The influence of the dust accumulation on the PV panel performance was also presented and discussed. PMID:27526667

  17. Structural and physical properties of the dust particles in Qatar and their influence on the PV panel performance.

    PubMed

    Aïssa, Brahim; Isaifan, Rima J; Madhavan, Vinod E; Abdallah, Amir A

    2016-01-01

    Recently, extensive R&D has been conducted, both by industry and academia, to significantly raise the conversion efficiency of commercial photovoltaic (PV) modules. The installation of PV systems aimed at optimizing solar energy yield is primarily dictated by its geographic location and installation design to maximize solar exposure. However, even when these characteristics have been addressed appropriately, there are other factors that adversely affect the performance of PV systems, namely the temperature-induced voltage decrease leading to a PV power loss, and the dust accumulation (soiling). The latter is the lesser acknowledged factor that significantly influences the performance of PV installations especially in the Middle East region. In this paper we report on the investigation of the structural and physical properties of the desert-dust particles in the State of Qatar. The dust particles were collected directly from the PV panels installed in desert environment and characterized by different techniques, including scanning electron, optical and atomic force microscopies, X-ray diffraction, energy-dispersive, UV-Vis, micro-Raman and Fourier transform infrared spectroscopy. The vibrating sample magnetometry analyses were also conducted to study the magnetic properties of the dust particles. The influence of the dust accumulation on the PV panel performance was also presented and discussed. PMID:27526667

  18. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maintaining genetic variation in wild populations of Arctic organisms is fundamental to the long-term persistence of high latitude biodiversity. Variability is important because it provides options for species to respond to changing environmental conditions and novel challenges such as emerging path...

  19. Zebrafish: A Model for the Study of Addiction Genetics

    PubMed Central

    Klee, Eric W; Schneider, Henning; Clark, Karl; Cousin, Margot; Ebbert, Jon; Hooten, Michael; Karpyak, Victor; Warner, David; Ekker, Stephen

    2013-01-01

    Drug abuse and dependence are multifaceted disorders with complex genetic underpinnings. Identifying specific genetic correlates is challenging and may be more readily accomplished by defining endophenotypes specific for addictive disorders. Symptoms and syndromes, including acute drug response, consumption, preference, and withdrawal, are potential endophenotypes characterizing addiction that have been investigated using model organisms. We present a review of major genes involved in serotonergic, dopaminergic, GABAergic, and adrenoreceptor signaling that are considered to be directly involved in nicotine, opioid, cannabinoid, and ethanol use and dependence. The zebrafish genome encodes likely homologs of the vast majority of these loci. We also review the known expression patterns of these genes in zebrafish. The information presented in this review provides support for the use of zebrafish as a viable model for studying genetic factors related to drug addiction. Expansion of investigations into drug response using model organisms holds the potential to advance our understanding of drug response and addiction in humans. PMID:22207143

  20. Applications of Molecular Genetics to the Study of Asthma.

    PubMed

    Sanz-Lozano, Catalina S; García-Solaesa, Virginia; Davila, Ignacio; Isidoro-García, María

    2016-01-01

    Asthma is a multifactorial disease. This fact, associated to the diversity of asthma phenotypes, has made difficult to obtain a clear pattern of inheritance. With the huge development of molecular genetics technologies, candidate gene studies are giving way to different types of studies from the genomic point of view.These approaches are allowing the identification of several genes associated with asthma. However, in these studies, there are some conflicting results between different populations and there is still a lack of knowledge about the actual influence of the gene variants. Some confounding factors are, among others, the inappropriate sample size, population stratification, differences in the classification of the phenotypes, or inadequate coverage of the genes.To confirm the real effect of the reported associations, it is necessary to consider both the genetic and environmental factors and perform functional studies that explain the molecular mechanisms mediating between the emergence of gene variants and the development of the disease.The development of experimental techniques opens a new horizon that allows the identification of major genetic factors of susceptibility to asthma. The resulting classification of the population groups based on their genetic characteristics, will allow the application of specific and highly efficient treatments. PMID:27300527

  1. GESDB: a platform of simulation resources for genetic epidemiology studies.

    PubMed

    Yao, Po-Ju; Chung, Ren-Hua

    2016-01-01

    Computer simulations are routinely conducted to evaluate new statistical methods, to compare the properties among different methods, and to mimic the observed data in genetic epidemiology studies. Conducting simulation studies can become a complicated task as several challenges can occur, such as the selection of an appropriate simulation tool and the specification of parameters in the simulation model. Although abundant simulated data have been generated for human genetic research, currently there is no public database designed specifically as a repository for these simulated data. With the lack of such a database, for similar studies, similar simulations may have been repeated, which resulted in redundant work. Thus, we created an online platform, the Genetic Epidemiology Simulation Database (GESDB), for simulation data sharing and discussion of simulation techniques for genetic epidemiology studies. GESDB consists of a database for storing simulation scripts, simulated data and documentation from published articles as well as a discussion forum, which provides a platform for discussion of the simulated data and exchanging simulation ideas. Moreover, summary statistics such as the simulation tools that are most commonly used and datasets that are most frequently downloaded are provided. The statistics will be informative for researchers to choose an appropriate simulation tool or select a common dataset for method comparisons. GESDB can be accessed at http://gesdb.nhri.org.twDatabase URL: http://gesdb.nhri.org.tw. PMID:27242038

  2. Involving study populations in the review of genetic research.

    PubMed

    Sharp, R R; Foster, M W

    2000-01-01

    Genetic research can present risks to all members of a study population, not just those who choose to participate in research. The authors suggest that community-based reviews of research protocols can help identify and minimize such research-related risks. PMID:11067631

  3. GENETICAL METABOLOMICS OF FLAVONOID BIOSYNTHESIS IN POPULUS: A CASE STUDY

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetical metabolomics (metabolite profiling combined with quantitative trait locus [QTL] analysis) is proposed as a new tool to identify loci that control metabolite abundances. This concept was evaluated in a case study with the model tree Populus. By using HPLC, the peak abundances were analyzed ...

  4. GESDB: a platform of simulation resources for genetic epidemiology studies

    PubMed Central

    Yao, Po-Ju; Chung, Ren-Hua

    2016-01-01

    Computer simulations are routinely conducted to evaluate new statistical methods, to compare the properties among different methods, and to mimic the observed data in genetic epidemiology studies. Conducting simulation studies can become a complicated task as several challenges can occur, such as the selection of an appropriate simulation tool and the specification of parameters in the simulation model. Although abundant simulated data have been generated for human genetic research, currently there is no public database designed specifically as a repository for these simulated data. With the lack of such a database, for similar studies, similar simulations may have been repeated, which resulted in redundant work. Thus, we created an online platform, the Genetic Epidemiology Simulation Database (GESDB), for simulation data sharing and discussion of simulation techniques for genetic epidemiology studies. GESDB consists of a database for storing simulation scripts, simulated data and documentation from published articles as well as a discussion forum, which provides a platform for discussion of the simulated data and exchanging simulation ideas. Moreover, summary statistics such as the simulation tools that are most commonly used and datasets that are most frequently downloaded are provided. The statistics will be informative for researchers to choose an appropriate simulation tool or select a common dataset for method comparisons. GESDB can be accessed at http://gesdb.nhri.org.tw. Database URL: http://gesdb.nhri.org.tw PMID:27242038

  5. Study design in genetic epidemiology: theoretical and practical considerations.

    PubMed

    Whittemore, A S; Nelson, L M

    1999-01-01

    Recent advances in molecular genetics have created new opportunities and challenges for genetic epidemiologists. Here we review some of the issues that arise when designing a study involving the genetic epidemiology of chronic diseases of late onset, such as cancer. We discuss two considerations that influence the choice of design. The first consideration is the study's goals. We describe the goals of identifying new susceptibility genes for a disease, of estimating important characteristics of known genes, and of learning how to prevent the disease in the genetically susceptible. We indicate how these goals affect the choice of design and present some guidelines for choosing designs that effectively address them. The second consideration is the set of practical constraints to successfully conducting the research. These contraints include problems of potential selection bias, reduced response rates, problems particular to family registries, problems particular to the cultures of various ethnic groups, and ethical issues. We indicate how these constraints affect the choice of design and discuss ways to deal with them. PMID:10854488

  6. Human genetic mapping studies using single sperm typing

    SciTech Connect

    Hubert, R.S.

    1993-01-01

    Sperm typing is a powerful technique that uses the polymerase chain reaction (PCR) to analyze DNA sequences within single sperm cells in order to construct genetic maps. This methodology was used to estimate the recombination fraction between D3S2 and D3S2 which was found to be 0.28 (95% CI = 0.20-0.36). Pedigree analysis was unable to determine genetic distance between these two markers due to their low informativeness. We also showed that dinucleotide and tetranucleotide repeat polymorphisms can be analyzed in single cells without using radioactivity or denaturing gels. This provides a rich new source of DANA polymorphisms for genetic mapping by sperm typing. In addition, an approach that uses the sperm typing methodology is described that can define the physical boundaries of meiotic recombination hotspots. The hotspot at 4p16.3 near the Huntington disease gene was localized to an interval between D4S10 and D4S126. These studies demonstrated the usefulness of sperm typing as a tool for the study of human genetic.

  7. A Course-based Cross-Cultural Interaction among Pharmacy Students in Qatar and Canada

    PubMed Central

    Taylor, Jeff; Khalifa, Sherief I.; Jorgenson, Derek

    2015-01-01

    Objective. To develop, implement, and evaluate a course-based, cross-cultural student interaction using real-time videoconferencing between universities in Canada and Qatar. Design. A professional skills simulation practice session on smoking cessation was run for students in Qatar (n=22) and Canada (n=22). Students role played cases in small group situations and then interacted with colleagues from the other country regarding culturally challenging situations and communication strategies. Assessment. Students were assessed on analytical content and communication skills through faculty member and peer evaluation. Cultural competency outcomes were assessed using a postsession survey. Overall, 92.3% of respondents agreed that learning was enhanced through the cross-cultural exchange, and 94.9% agreed that insight was gained into the health-related issues and needs of people from another culture. Conclusion. A course-based, cross-cultural interaction was an effective method to incorporate cultural competency principles into student learning. Future initiatives should increase direct student interaction and focus on culturally sensitive topics. PMID:25861107

  8. Intestinal helminths of feral cat populations from urban and suburban districts of Qatar.

    PubMed

    Abu-Madi, Marawan A; Behnke, Jerzy M; Prabhaker, K S; Al-Ibrahim, Roda; Lewis, John W

    2010-03-25

    A survey of the helminths of 658 adult cats from feral urban and suburban populations in Qatar was conducted across all months in 2006 and 2007. Six species of helminths were identified, comprising two cestodes (Taenia taeniaeformis [73.6%] and Diplopylidium acanthotetra [47.1%]) and four nematodes (Ancylostoma tubaeforme [14.7%], Physaloptera praeputialis [5.2%], Toxocara cati [0.8%] and Toxascaris leonina [0.2%]), and 83% of cats were infected with at least one of these. The average number of species harboured was 1.4 and the average worm burden was 55.8 worms/cat. The vast majority of worms (97.6%) were cestodes, nematodes being relatively rare. Prevalence and abundance of infections were analyzed, taking into consideration four factors: year (2006 and 2007), site (urban and suburban), season (winter and summer) and sex of the host. Analyses revealed marked year effects, female host bias in some species and interactions involving combination of factors, but especially sex and season of the year. The results indicate that whilst the majority of adult feral cats in Qatar carry helminth infections, infections are variable between years and subject to annual changes that may reflect climatic and other environmental changes in the rapidly developing city of Doha and its suburban surroundings. Only two species have the potential to infect humans and both were rare among the sampled cats (A. tubaeforme and T. cati). PMID:20031329

  9. The Qatar genome: a population-specific tool for precision medicine in the Middle East

    PubMed Central

    Fakhro, Khalid A; Staudt, Michelle R; Ramstetter, Monica Denise; Robay, Amal; Malek, Joel A; Badii, Ramin; Al-Marri, Ajayeb Al-Nabet; Khalil, Charbel Abi; Al-Shakaki, Alya; Chidiac, Omar; Stadler, Dora; Zirie, Mahmoud; Jayyousi, Amin; Salit, Jacqueline; Mezey, Jason G; Crystal, Ronald G; Rodriguez-Flores, Juan L

    2016-01-01

    Reaching the full potential of precision medicine depends on the quality of personalized genome interpretation. In order to facilitate precision medicine in regions of the Middle East and North Africa (MENA), a population-specific genome for the indigenous Arab population of Qatar (QTRG) was constructed by incorporating allele frequency data from sequencing of 1,161 Qataris, representing 0.4% of the population. A total of 20.9 million single nucleotide polymorphisms (SNPs) and 3.1 million indels were observed in Qatar, including an average of 1.79% novel variants per individual genome. Replacement of the GRCh37 standard reference with QTRG in a best practices genome analysis workflow resulted in an average of 7* deeper coverage depth (an improvement of 23%) and 756,671 fewer variants on average, a reduction of 16% that is attributed to common Qatari alleles being present in QTRG. The benefit for using QTRG varies across ancestries, a factor that should be taken into consideration when selecting an appropriate reference for analysis. PMID:27408750

  10. D Model of AL Zubarah Fortress in Qatar - Terrestrial Laser Scanning VS. Dense Image Matching

    NASA Astrophysics Data System (ADS)

    Kersten, T.; Mechelke, K.; Maziull, L.

    2015-02-01

    In September 2011 the fortress Al Zubarah, built in 1938 as a typical Arabic fortress and restored in 1987 as a museum, was recorded by the HafenCity University Hamburg using terrestrial laser scanning with the IMAGER 5006h and digital photogrammetry for the Qatar Museum Authority within the framework of the Qatar Islamic Archaeology and Heritage Project. One goal of the object recording was to provide detailed 2D/3D documentation of the fortress. This was used to complete specific detailed restoration work in the recent years. From the registered laser scanning point clouds several cuttings and 2D plans were generated as well as a 3D surface model by triangle meshing. Additionally, point clouds and surface models were automatically generated from digital imagery from a Nikon D70 using the open-source software Bundler/PMVS2, free software VisualSFM, Autodesk Web Service 123D Catch beta, and low-cost software Agisoft PhotoScan. These outputs were compared with the results from terrestrial laser scanning. The point clouds and surface models derived from imagery could not achieve the same quality of geometrical accuracy as laser scanning (i.e. 1-2 cm).

  11. Matching Strategies for Genetic Association Studies in Structured Populations

    PubMed Central

    Hinds, David A.; Stokowski, Renee P.; Patil, Nila; Konvicka, Karel; Kershenobich, David; Cox, David R.; Ballinger, Dennis G.

    2004-01-01

    Association studies in populations that are genetically heterogeneous can yield large numbers of spurious associations if population subgroups are unequally represented among cases and controls. This problem is particularly acute for studies involving pooled genotyping of very large numbers of single-nucleotide–polymorphism (SNP) markers, because most methods for analysis of association in structured populations require individual genotyping data. In this study, we present several strategies for matching case and control pools to have similar genetic compositions, based on ancestry information inferred from genotype data for ∼300 SNPs tiled on an oligonucleotide-based genotyping array. We also discuss methods for measuring the impact of population stratification on an association study. Results for an admixed population and a phenotype strongly confounded with ancestry show that these simple matching strategies can effectively mitigate the impact of population stratification. PMID:14740319

  12. Toxoplasmosis in Sand cats (Felis margarita) and other animals in the Breeding Centre for Endangered Arabian Wildlife in the United Arab Emirates and Al Wabra Wildlife Preservation, the State of Qatar.

    PubMed

    Dubey, J P; Pas, An; Rajendran, C; Kwok, O C H; Ferreira, L R; Martins, J; Hebel, C; Hammer, S; Su, C

    2010-09-20

    The Sand cat (Felis margarita) is a small-sized felid found in sand and stone deserts ranging from the north of Africa to Asia, with the Arabian Peninsula as its centre of distribution. The Sand cat captive breeding program at the Breeding Centre for Endangered Arabian Wildlife (BCEAW), Sharjah, UAE, has experienced high newborn mortality rates, and congenital toxoplasmosis was recently recognized as one of the causes of this mortality. In the present study, one 18-month-old Sand cat (FM019) died of acute toxoplasmosis-associated hepatitis and pneumonitis acquired after birth; Toxoplasma gondii was demonstrated in histological sections which reacted with T. gondii polyclonal antibodies by immunohistochemistry (IHC). T. gondii DNA was found by PCR of extracted DNA from liver and lung tissues of this cat. Antibodies to T. gondii were found in serum examined in 1:1600 dilution in the modified agglutination test (MAT); its 2-year-old cage mate seroconverted (MAT titer 1:3200) at the same time. Another Sand cat (FM017) was euthanized because of ill health when 3 years old; its MAT titer was >1:3200, and T. gondii tissue cysts were found in brain, heart, ocular muscles and skeletal muscle, confirmed by IHC. Viable T. gondii was isolated by bioassays in mice inoculated with tissues of another chronically infected Sand cat (FM002); T. gondii was not found in histological sections of this cat. T. gondii antibodies were found in several species of animals tested, notably in 49 of 57 wild felids at BCEAW. A 7-year-old Sand cat (3657) from Al Wabra Wildlife Preservation (AWWP), Doha, State of Qatar died of acute visceral toxoplasmosis with demonstrable T. gondii tachyzoites by IHC, and T. gondii DNA by PCR, and a MAT titer of >3200. T. gondii antibodies were found in 21 of 27 of wild felids at AWWP. PCR-RFLP genotyping at 10 genetic loci revealed that these T. gondii isolates from Sand cat (FM002 and FM019) at BCEAW have an atypical genotype, which was previously reported in T

  13. SU-E-P-57: Radiation Doses Assessment to Paediatric Patients for Some Digital Diagnostic Radiology Examination in Emergency Department in Qatar

    SciTech Connect

    Abdallah, I; Aly, A; Al Naemi, H

    2015-06-15

    Purpose: The aim of this study was to evaluate radiation doses to pediatric patients undergoing standard radiographic examinations using Direct Digital Radiography (DDR) in Paediatric emergency center of Hamad General Hospital (HGH) in state of Qatar and compared with regional and international Dose Reference Levels (DRLs). Methods: Entrance Skin Dose (ESD) was measured for 2739 patients for two common X-ray examinations namely: Chest AP/PA, Abdomen. Exposure factors such as kV, mAs and Focal to Skin Distance (FSD) were recorded for each patient. Tube Output was measured for a range of selected kV values. ESD for each individual patient was calculated using the tube output and the technical exposure factors for each examination. The ESD values were compared with the some international Dose Reference Levels (DRL) for all types of examinations. Results: The most performed procedure during the time of this study was chest PA/PA (85%). The mean ESD values obtained from AP chest, PA chest and AP abdomen ranged 91–120, 80–84 and 209 – 659 µGy per radiograph for different age’s groups respectively. Two protocols have been used for chest AP and PA using different radiological parameters, and the different of ESD values for chest PA and were 41% for 1 years old child, 57% for 5 years old for chest AP. Conclusion: The mean ESD were compared with those found in literature and were found to be comparable. The radiation dose can be reduced more for Chest AP and PA examination by optimization of each investigation and hence more studies are required for this task. The results presented will serve as a baseline data needed for deriving local reference doses for pediatric X-ray examinations in this local department and hence it can be applied in the whole Qatar.

  14. The OCD collaborative genetics study: methods and sample description.

    PubMed

    Samuels, Jack F; Riddle, Mark A; Greenberg, Benjamin D; Fyer, Abby J; McCracken, James T; Rauch, Scott L; Murphy, Dennis L; Grados, Marco A; Pinto, Anthony; Knowles, James A; Piacentini, John; Cannistraro, Paul A; Cullen, Bernadette; Bienvenu, O Joseph; Rasmussen, Steven A; Pauls, David L; Willour, Virginia L; Shugart, Yin Y; Liang, Kung-yee; Hoehn-Saric, Rudolf; Nestadt, Gerald

    2006-04-01

    Results from twin and family studies suggest that obsessive-compulsive disorder (OCD) may be transmitted in families but, to date, genes for the disorder have not been identified. The OCD Collaborative Genetics Study (OCGS) is a six-site collaborative genetic linkage study of OCD. Specimens and blinded clinical data will be made available through the National Institute of Mental Health (NIMH) cell repository. In this initial report, we describe the methods of the study and present clinical characteristics of affected individuals for researchers interested in this valuable resource for genetic studies of OCD. The project clinically evaluated and collected blood specimens from 238 families containing 299 OCD-affected sibling pairs and their parents, and additional affected relative pairs, for a genome-wide linkage study. Of the 999 individuals interviewed to date, 624 were diagnosed with "definite" OCD. The mean age of subjects was 36 years (range 7-95). The majority of affected individuals (66%) were female. The mean age at onset of obsessive-compulsive symptoms was 9.5 years. Specific mood disorders, anxiety disorders, eating disorders, and skin picking were more prevalent in female cases, whereas tics, Tourette disorder, and alcohol dependence were more prevalent in male cases. Compared to "definite" cases of OCD, "probable" cases (n = 82) had, on average, later age at onset of obsessive-compulsive symptoms, lower severity score, and fewer numbers of different categories of obsessions and compulsions, and they were less likely to have received treatment for their symptoms. PMID:16511842

  15. 75 FR 66360 - Transportation and Energy Products and Services Trade Mission; Doha, Qatar, and Abu Dhabi and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-28

    ..., and Abu Dhabi and Dubai, U.A.E. I. Mission Description The United States Department of Commerce's... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF COMMERCE... key decision makers in the U.A.E. and Qatar, and form partnerships which will allow their companies...

  16. The Admission and Academic Placement of Students from: Bahrain, Oman, Qatar, United Arab Emirates, Yemen Arab Republic.

    ERIC Educational Resources Information Center

    Johnson, J. K., Ed.

    Information is provided on the educational systems of Bahrain, Oman, Qatar, the United Arab Emirates, and the Yemen Arab Republic in order to assist U.S. colleges and universities as they work with international student agencies and representatives from these countries. For each country, placement recommendations are offered, along with notes to…

  17. QATAR-2: A K DWARF ORBITED BY A TRANSITING HOT JUPITER AND A MORE MASSIVE COMPANION IN AN OUTER ORBIT

    SciTech Connect

    Bryan, Marta L.; Alsubai, Khalid A.; Latham, David W.; Quinn, Samuel N.; Carter, Joshua A.; Berlind, Perry; Brown, Warren R.; Calkins, Michael L.; Esquerdo, Gilbert A.; Furesz, Gabor; Stefanik, Robert P.; Torres, Guillermo; Parley, Neil R.; Collier Cameron, Andrew; Horne, Keith D.; Fulton, Benjamin J.; Street, Rachel A.; Buchhave, Lars A.; Jorgensen, Uffe Grae; West, Richard G.; and others

    2012-05-01

    We report the discovery and initial characterization of Qatar-2b, a hot Jupiter transiting a V = 13.3 mag K dwarf in a circular orbit with a short period, P{sub b} = 1.34 days. The mass and radius of Qatar-2b are M{sub P} = 2.49 M{sub J} and R{sub P} = 1.14 R{sub J}, respectively. Radial-velocity monitoring of Qatar-2 over a span of 153 days revealed the presence of a second companion in an outer orbit. The Systemic Console yielded plausible orbits for the outer companion, with periods on the order of a year and a companion mass of at least several M{sub J}. Thus, Qatar-2 joins the short but growing list of systems with a transiting hot Jupiter and an outer companion with a much longer period. This system architecture is in sharp contrast to that found by Kepler for multi-transiting systems, which are dominated by objects smaller than Neptune, usually with tightly spaced orbits that must be nearly coplanar.

  18. Effects of Inquiry-Based Science Instruction on Science Achievement and Interest in Science: Evidence from Qatar

    ERIC Educational Resources Information Center

    Areepattamannil, Shaljan

    2012-01-01

    The author sought to investigate the effects of inquiry-based science instruction on science achievement and interest in science of 5,120 adolescents from 85 schools in Qatar. Results of hierarchical linear modeling analyses revealed the substantial positive effects of science teaching and learning with a focus on model or applications and…

  19. A Global Population Genetic Study of Pantala flavescens

    PubMed Central

    Troast, Daniel; Suhling, Frank; Jinguji, Hiroshi; Sahlén, Göran; Ware, Jessica

    2016-01-01

    Among terrestrial arthropods, the dragonfly species Pantala flavescens is remarkable due to their nearly global distribution and extensive migratory ranges; the largest of any known insect. Capable of migrating across oceans, the potential for high rates of gene flow among geographically distant populations is significant. It has been hypothesized that P. flavescens may be a global panmictic population but no sufficient genetic evidence has been collected thus far. Through a population genetic analysis of P. flavescens samples from North America, South America, and Asia, the current study aimed to examine the extent at which gene flow is occurring on a global scale and discusses the implications of the genetic patterns we uncovered on population structure and genetic diversity of the species. This was accomplished using PCR-amplified cytochrome oxidase one (CO1) mitochondrial DNA data to reconstruct phylogenetic trees, a haplotype network, and perform molecular variance analyses. Our results suggested high rates of gene flow are occurring among all included geographic regions; providing the first significant evidence that Pantala flavescens should be considered a global panmictic population. PMID:26934181

  20. A Global Population Genetic Study of Pantala flavescens.

    PubMed

    Troast, Daniel; Suhling, Frank; Jinguji, Hiroshi; Sahlén, Göran; Ware, Jessica

    2016-01-01

    Among terrestrial arthropods, the dragonfly species Pantala flavescens is remarkable due to their nearly global distribution and extensive migratory ranges; the largest of any known insect. Capable of migrating across oceans, the potential for high rates of gene flow among geographically distant populations is significant. It has been hypothesized that P. flavescens may be a global panmictic population but no sufficient genetic evidence has been collected thus far. Through a population genetic analysis of P. flavescens samples from North America, South America, and Asia, the current study aimed to examine the extent at which gene flow is occurring on a global scale and discusses the implications of the genetic patterns we uncovered on population structure and genetic diversity of the species. This was accomplished using PCR-amplified cytochrome oxidase one (CO1) mitochondrial DNA data to reconstruct phylogenetic trees, a haplotype network, and perform molecular variance analyses. Our results suggested high rates of gene flow are occurring among all included geographic regions; providing the first significant evidence that Pantala flavescens should be considered a global panmictic population. PMID:26934181

  1. Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study.

    PubMed

    Greenwood, Tiffany A; Lazzeroni, Laura C; Calkins, Monica E; Freedman, Robert; Green, Michael F; Gur, Raquel E; Gur, Ruben C; Light, Gregory A; Nuechterlein, Keith H; Olincy, Ann; Radant, Allen D; Seidman, Larry J; Siever, Larry J; Silverman, Jeremy M; Stone, William S; Sugar, Catherine A; Swerdlow, Neal R; Tsuang, Debby W; Tsuang, Ming T; Turetsky, Bruce I; Braff, David L

    2016-01-01

    The Consortium on the Genetics of Schizophrenia Family Study (COGS-1) has previously reported our efforts to characterize the genetic architecture of 12 primary endophenotypes for schizophrenia. We now report the characterization of 13 additional measures derived from the same endophenotype test paradigms in the COGS-1 families. Nine of the measures were found to discriminate between schizophrenia patients and controls, were significantly heritable (31 to 62%), and were sufficiently independent of previously assessed endophenotypes, demonstrating utility as additional endophenotypes. Genotyping via a custom array of 1536 SNPs from 94 candidate genes identified associations for CTNNA2, ERBB4, GRID1, GRID2, GRIK3, GRIK4, GRIN2B, NOS1AP, NRG1, and RELN across multiple endophenotypes. An experiment-wide p value of 0.003 suggested that the associations across all SNPs and endophenotypes collectively exceeded chance. Linkage analyses performed using a genome-wide SNP array further identified significant or suggestive linkage for six of the candidate endophenotypes, with several genes of interest located beneath the linkage peaks (e.g., CSMD1, DISC1, DLGAP2, GRIK2, GRIN3A, and SLC6A3). While the partial convergence of the association and linkage likely reflects differences in density of gene coverage provided by the distinct genotyping platforms, it is also likely an indication of the differential contribution of rare and common variants for some genes and methodological differences in detection ability. Still, many of the genes implicated by COGS through endophenotypes have been identified by independent studies of common, rare, and de novo variation in schizophrenia, all converging on a functional genetic network related to glutamatergic neurotransmission that warrants further investigation. PMID:26597662

  2. A Snapshot of Functional Genetic Studies in Medicago truncatula.

    PubMed

    Kang, Yun; Li, Minguye; Sinharoy, Senjuti; Verdier, Jerome

    2016-01-01

    In the current context of food security, increase of plant protein production in a sustainable manner represents one of the major challenges of agronomic research, which could be partially resolved by increased cultivation of legume crops. Medicago truncatula is now a well-established model for legume genomic and genetic studies. With the establishment of genomics tools and mutant populations in M. truncatula, it has become an important resource to answer some of the basic biological questions related to plant development and stress tolerance. This review has an objective to overview a decade of genetic studies in this model plant from generation of mutant populations to nowadays. To date, the three biological fields, which have been extensively studied in M. truncatula, are the symbiotic nitrogen fixation, the seed development, and the abiotic stress tolerance, due to their significant agronomic impacts. In this review, we summarize functional genetic studies related to these three major biological fields. We integrated analyses of a nearly exhaustive list of genes into their biological contexts in order to provide an overview of the forefront research advances in this important legume model plant. PMID:27555857

  3. A Snapshot of Functional Genetic Studies in Medicago truncatula

    PubMed Central

    Kang, Yun; Li, Minguye; Sinharoy, Senjuti; Verdier, Jerome

    2016-01-01

    In the current context of food security, increase of plant protein production in a sustainable manner represents one of the major challenges of agronomic research, which could be partially resolved by increased cultivation of legume crops. Medicago truncatula is now a well-established model for legume genomic and genetic studies. With the establishment of genomics tools and mutant populations in M. truncatula, it has become an important resource to answer some of the basic biological questions related to plant development and stress tolerance. This review has an objective to overview a decade of genetic studies in this model plant from generation of mutant populations to nowadays. To date, the three biological fields, which have been extensively studied in M. truncatula, are the symbiotic nitrogen fixation, the seed development, and the abiotic stress tolerance, due to their significant agronomic impacts. In this review, we summarize functional genetic studies related to these three major biological fields. We integrated analyses of a nearly exhaustive list of genes into their biological contexts in order to provide an overview of the forefront research advances in this important legume model plant. PMID:27555857

  4. High-precision multiband time series photometry of exoplanets Qatar-1b and TrES-5b

    NASA Astrophysics Data System (ADS)

    Mislis, D.; Mancini, L.; Tregloan-Reed, J.; Ciceri, S.; Southworth, J.; D'Ago, G.; Bruni, I.; Baştürk, Ö.; Alsubai, K. A.; Bachelet, E.; Bramich, D. M.; Henning, Th.; Hinse, T. C.; Iannella, A. L.; Parley, N.; Schroeder, T.

    2015-04-01

    We present an analysis of the Qatar-1 and TrES-5 transiting exoplanetary systems, which contain Jupiter-like planets on short-period orbits around K-dwarf stars. Our data comprise a total of 20 transit light curves obtained using five medium-class telescopes, operated using the defocusing technique. The average precision we reach in all our data is RMSQ = 1.1 mmag for Qatar-1 (V = 12.8) and RMST = 1.0 mmag for TrES-5 (V = 13.7). We use these data to refine the orbital ephemeris, photometric parameters, and measured physical properties of the two systems. One transit event for each object was observed simultaneously in three passbands (gri) using the BUSCA imager. The QES survey light curve of Qatar-1 has a clear sinusoidal variation on a period of P⋆ = 23.697 ± 0.123 d, implying significant star-spot activity. We searched for star-spot crossing events in our light curves, but did not find clear evidence in any of the new data sets. The planet in the Qatar-1 system did not transit the active latitudes on the surfaces of its host star. Under the assumption that P⋆ corresponds to the rotation period of Qatar-1A, the rotational velocity of this star is very close to the vsin i⋆ value found from observations of the Rossiter-McLaughlin effect. The low projected orbital obliquity found in this system thus implies a low absolute orbital obliquity, which is also a necessary condition for the transit chord of the planet to avoid active latitudes on the stellar surface.

  5. Relationships between anthropometric measures and athletic performance, with special reference to repeated-sprint ability, in the Qatar national soccer team.

    PubMed

    Brocherie, Franck; Girard, Olivier; Forchino, Fabricio; Al Haddad, Hani; Dos Santos, Gilvan A; Millet, Grégoire P

    2014-01-01

    The aim of this study was to determine potential relationships between anthropometric parameters and athletic performance with special consideration to repeated-sprint ability (RSA). Sixteen players of the senior male Qatar national soccer team performed a series of anthropometric and physical tests including countermovement jumps without (CMJ) and with free arms (CMJwA), straight-line 20 m sprint, RSA (6 × 35 m with 10 s recovery) and incremental field test. Significant (P < 0.05) relationships occurred between muscle-to-bone ratio and both CMJs height (r ranging from 0.56 to 0.69) as well as with all RSA-related variables (r < -0.53 for sprinting times and r = 0.54 for maximal sprinting speed) with the exception of the sprint decrement score (Sdec). The sum of six skinfolds and adipose mass index were largely correlated with Sdec (r = 0.68, P < 0.01 and r = 0.55, P < 0.05, respectively) but not with total time (TT, r = 0.44 and 0.33, P > 0.05, respectively) or any standard athletic tests. Multiple regression analyses indicated that muscular cross-sectional area for mid-thigh, adipose index, straight-line 20 m time, maximal sprinting speed and CMJwA are the strongest predictors of Sdec (r(2) = 0.89) and TT (r(2) = 0.95) during our RSA test. In the Qatar national soccer team, players' power-related qualities and RSA are associated with a high muscular profile and a low adiposity. This supports the relevance of explosive power for the soccer players and the larger importance of neuromuscular qualities determining the RSA. PMID:24742185

  6. Knowledge Gaining by Human Genetic Studies on Tuberculosis Susceptibility

    PubMed Central

    Qu, Hui-Qi; Fisher-Hoch, Susan P; McCormick, Joseph B

    2011-01-01

    Tuberculosis (TB) is a serious health issue in the developing world. Lack of knowledge on the etiological mechanisms of TB hinders the development of effective strategies for the treatment or prevention of TB disease. Human genetic study is an indispensable approach to understand the molecular basis of common diseases. Numerous efforts were made to screen the human genome for TB susceptibility by linkage mapping. A large number of candidate-based association studies of TB were performed to examine the association of predicted functional DNA variations in candidate genes. Recently, the first genome-wide association study (GWAS) on TB was reported. The GWAS is a proof-of-principle evidence which justifies the genetic approach to understand TB. Further hypothesis-free efforts on TB research may renovate the traditional idea of TB genetic susceptibility as none of the candidate genes with important roles in containing Mycobacterium tuberculosis (MTB) infection was identified of association with active TB, while the TB-associated loci in the GWAS harbors no gene with function in MTB infection. PMID:21179108

  7. A retrospective drug use evaluation of cabergoline for lactation inhibition at a tertiary care teaching hospital in Qatar

    PubMed Central

    AlSaad, Doua; ElSalem, Samah; Abdulrouf, Palli Valapila; Thomas, Binny; Alsaad, Tayseer; Ahmed, Afif; AlHail, Moza

    2016-01-01

    Background Breastfeeding is considered as gold standard for infant nutrition and should be interrupted only when a compelling indication exists. Certain medical conditions such as abortion, stillbirth, HIV infection, or infant galactosemia and certain medications such as chemotherapy necessitate lactation inhibition to protect the health of mother and infant. Drug use evaluation (DUE) studies are done to explore the current practice in a setting and help to identify areas in which further information and education may be needed by clinicians. Objective The aim of this study was to conduct a DUE of cabergoline to assess indications for lactation inhibition, dosage regimen, and its safety. Method A retrospective cross-sectional DUE study was conducted over a period of 4 months from September 1, 2013, till December 31, 2013, at the Women’s Hospital, Qatar. All cabergoline prescriptions written for lactation inhibition within 10 days of delivery or abortion were included in the study. A descriptive data analysis was undertaken. Results Of the 85 patients included, stillbirth (50.6%) was considered as the main reason for lactation inhibition, followed by abortion (27.1%) and neonatal death (12.9%). The remaining 9.4% of the patients had live baby, and the majority of them were prescribed cabergoline for lactation inhibition because their maternal medical conditions required the use of drugs with insufficient safety data (n=6). Seventy-four percent of patients received cabergoline at accurate time and dose. However, 14% of the patients had preexisting hypertensive disorder and 58.3% of them were diagnosed as uncontrolled hypertension. Conclusion The current DUE study found that cabergoline was mainly used to inhibit lactation for patients with stillbirth, abortion, and neonatal death. In mothers who use medications for other medical conditions, benefits and risks of breastfeeding should be carefully balanced before prescribing cabergoline. Current prescribing pattern

  8. [Genetic predisposition and Pediatric Acute Respiratory Distress Syndrome: New tools for genetic study].

    PubMed

    Erranz, M Benjamín; Wilhelm, B Jan; Riquelme, V Raquel; Cruces, R Pablo

    2015-01-01

    Acute respiratory distress syndrome (ARDS) is the most severe form of respiratory failure. Theoretically, any acute lung condition can lead to ARDS, but only a small percentage of individuals actually develop the disease. On this basis, genetic factors have been implicated in the risk of developing ARDS. Based on the pathophysiology of this disease, many candidate genes have been evaluated as potential modifiers in patient, as well as in animal models, of ARDS. Recent experimental data and clinical studies suggest that variations of genes involved in key processes of tissue, cellular and molecular lung damage may influence susceptibility and prognosis of ARDS. However, the pathogenesis of pediatric ARDS is complex, and therefore, it can be expected that many genes might contribute. Genetic variations such as single nucleotide polymorphisms and copy-number variations are likely associated with susceptibility to ARDS in children with primary lung injury. Genome-wide association (GWA) studies can objectively examine these variations, and help identify important new genes and pathogenetic pathways for future analysis. This approach might also have diagnostic and therapeutic implications, such as predicting patient risk or developing a personalized therapeutic approach to this serious syndrome. PMID:26235685

  9. Genetically engineered mouse models to study prostate cancer.

    PubMed

    Brzezinska, Elspeth A; Nixon, Colin; Patel, Rachana; Leung, Hing Y

    2015-01-01

    Genetically engineered mouse models have become fundamental tools in the basic and translational research of prostate cancer. There is a plethora of models available to dissect the genetic alterations and aberrant signaling events associated with human prostate cancer and, furthermore, to investigate new and "personalized" therapies to treat the disease. In this chapter, we discuss some of the models recently and currently used to study prostate cancer in vivo, and some considerations when selecting an appropriate model to investigate particular aspects of the disease. We describe the methods required to isolate prostate tumors and conduct basic characterization of the tumor to determine tumor load and histopathology. We also discuss important aspects to be considered when processing samples for further analysis. PMID:25636465

  10. Study of genetic direct search algorithms for function optimization

    NASA Technical Reports Server (NTRS)

    Zeigler, B. P.

    1974-01-01

    The results are presented of a study to determine the performance of genetic direct search algorithms in solving function optimization problems arising in the optimal and adaptive control areas. The findings indicate that: (1) genetic algorithms can outperform standard algorithms in multimodal and/or noisy optimization situations, but suffer from lack of gradient exploitation facilities when gradient information can be utilized to guide the search. (2) For large populations, or low dimensional function spaces, mutation is a sufficient operator. However for small populations or high dimensional functions, crossover applied in about equal frequency with mutation is an optimum combination. (3) Complexity, in terms of storage space and running time, is significantly increased when population size is increased or the inversion operator, or the second level adaptation routine is added to the basic structure.

  11. Study of methanogens by genetic techniques. A subcontract progress report

    SciTech Connect

    Baresi, L.; Bertani, G.

    1984-06-01

    Genetic studies of methanogenic bacteria could lead to better exploitation of these organisms in the production of methane from biomass. The objective of this study is to develop a workable genetic system for these bacteria. We have tried to apply standard genetic techniques to these slow growing, strictly anaerobic bacteria. We have been able to isolate several types of mutants both spontaneous and induced. For Methanococcus voltae we have (a) established survival curves to ultraviolet light and gamma ray irradiation, (b) isolated by direct selection mutants resistant to bromo-ethane-sulfonate and to 5-methyl-tryptophan, and a double mutant exhibiting both resistances, (c) isolated after mutagenesis two nutritional mutants (one requiring histidine and the other requiring adenine and possibly another factor). For Methanobacterium thermoautotrophicum we have (a) established an ultraviolet light survival curve, (b) isolated by direct selection mutants resistant to bromo-ethane-sulfonate and to gentamicin. We have developed a routine technique for the purpose of isolating phages capable of infecting methanogenic bacteria. 10 figures, 1 table.

  12. Genetic influences on osteoarthritis in women: a twin study.

    PubMed Central

    Spector, T. D.; Cicuttini, F.; Baker, J.; Loughlin, J.; Hart, D.

    1996-01-01

    OBJECTIVES--To assess the relative contribution of genetic and environmental factors to common forms of osteoarthritis of the hands and knees. DESIGN--Classic twin study with unselected twins who were screened radiologically for osteoarthritis. SUBJECTS--130 identical and 120 non-identical female twins aged 48-70 recruited from a London based twin register and through a national media campaign. MAIN OUTCOME MEASURES--Similarity in identical compared with non-identical twin pairs for radiographic changes at the interphalangeal and first carpometacarpal joints of the hands and the tibiofemoral joint and patellofemoral joint of the knee expressed as intraclass correlations. RESULTS--The intraclass correlations of radiographic osteophytes and narrowing at most sites and the presence of Heberden's nodes and knee pain were higher in the identical pairs. The intraclass correlation of the total radiographic osteoarthritis score in identical pairs (rMZ) was 0.64 (SE 0.05) compared with 0.38 (0.08) in non-identical pairs. The proportion of genetic variance of total osteoarthritis score (osteophytes and narrowing) with modelling techniques was estimated at 0.54 (95% confidence interval 0.43 to 0.65) and ranged from 0.39 to 0.65 for different sites and features (p < 0.001) after adjustment for age and weight. CONCLUSIONS--These results demonstrate for the first time a clear genetic effect for radiographic osteoarthritis of the hand and knee in women, with a genetic influence ranging from 39-65%, independent of known environmental or demographic confounders. The results of this study should lead to further work on isolating the gene or genes involved in the pathogenesis of the common disabling disease. PMID:8616305

  13. Comparative Genetics: Synergizing Human and NOD Mouse Studies for Identifying Genetic Causation of Type 1 Diabetes

    PubMed Central

    Driver, John P.; Chen, Yi-Guang; Mathews, Clayton E.

    2012-01-01

    Although once widely anticipated to unlock how human type 1 diabetes (T1D) develops, extensive study of the nonobese diabetic (NOD) mouse has failed to yield effective treatments for patients with the disease. This has led many to question the usefulness of this animal model. While criticism about the differences between NOD and human T1D is legitimate, in many cases disease in both species results from perturbations modulated by the same genes or different genes that function within the same biological pathways. Like in humans, unusual polymorphisms within an MHC class II molecule contributes the most T1D risk in NOD mice. This insight supports the validity of this model and suggests the NOD has been improperly utilized to study how to cure or prevent disease in patients. Indeed, clinical trials are far from administering T1D therapeutics to humans at the same concentration ranges and pathological states that inhibit disease in NOD mice. Until these obstacles are overcome it is premature to label the NOD mouse a poor surrogate to test agents that cure or prevent T1D. An additional criticism of the NOD mouse is the past difficulty in identifying genes underlying T1D using conventional mapping studies. However, most of the few diabetogenic alleles identified to date appear relevant to the human disorder. This suggests that rather than abandoning genetic studies in NOD mice, future efforts should focus on improving the efficiency with which diabetes susceptibility genes are detected. The current review highlights why the NOD mouse remains a relevant and valuable tool to understand the genes and their interactions that promote autoimmune diabetes and therapeutics that inhibit this disease. It also describes a new range of technologies that will likely transform how the NOD mouse is used to uncover the genetic causes of T1D for years to come. PMID:23804259

  14. Functional Analysis of the Human Genome:. Study of Genetic Disease

    NASA Astrophysics Data System (ADS)

    Tsui, Lap-Chee

    2003-04-01

    I will divide my remarks into 3 parts. First, I will give a brief summary of the Human Genome Project. Second, I will describe our work on human chromosome 7 to illustrate how we could contribute to the Project and disease research. Third, I would like to bring across the argument that study of genetic disease is an integral component of the Human Genome Project. In particular, I will use cystic fibrosis as an example to elaborate why I consider disease study is a part of functional genomics.

  15. Pathogenesis of immunoglobulin A nephropathy: recent insight from genetic studies.

    PubMed

    Kiryluk, Krzysztof; Novak, Jan; Gharavi, Ali G

    2013-01-01

    Recent genome-wide association studies (GWAS) have identified multiple susceptibility loci for immunoglobulin A nephropathy (IgAN), the most common form of glomerulonephritis, implicating independent defects in adaptive immunity (three loci on chromosome 6p21 in the MHC region), innate immunity (8p23 DEFA locus, 17p23 TNFSF13 locus, 22q12 HORMAD2 locus), and the alternative complement pathway (1q32 CFH/CFHR locus). In geospatial analysis of 85 populations, a genetic risk score based on the replicated GWAS loci is highest in Asians, intermediate in Europeans, and lowest in Africans, capturing the known difference in prevalence among world populations. The genetic risk score also uncovered a previously unsuspected increased prevalence of IgAN-attributable kidney failure in Northern Europe. The IgAN risk alleles have opposing effects on many immune-mediated diseases, suggesting that selection has contributed to variation in risk allele frequencies among different populations. Incorporating genetic, immunologic, and biochemical data, we present a multistep pathogenesis model that provides testable hypotheses for dissecting the mechanisms of disease. PMID:23072577

  16. Primary coronary angioplasty for ST-Elevation Myocardial Infarction in Qatar: First nationwide program.

    PubMed

    Gehani, Abdurrazzak; Al Suwaidi, Jassim; Arafa, Salah; Tamimi, Omer; Alqahtani, Awad; Al-Nabti, Abdulrahman; Arabi, Abdulrahman; Aboughazala, Tarek; Bonow, Robert O; Yacoub, Magdi

    2012-01-01

    In this article, we outline the plans, protocols and strategies to set up the first nationwide primary Percutaneous Coronary Intervention (PCI) program for ST-elevation myocardial Infarction (STEMI) in Qatar, as well as the difficulties and the multi-disciplinary solutions that we adopted in preparation. We will also report some of the landmark literature that guided our plans. The guidelines underscore the need for adequate number of procedures to justify establishing a primary-PCI service and maintain competency. The number of both diagnostic and interventional procedures in our centre has increased substantially over the years. The number of diagnostic procedures has increased from 1470 in 2007, to 2200 in 2009 and is projected to exceed 3000 by the end of 2012. The total number of PCIs has also increased from 443 in 2007, to 646 in 2009 and 1176 in 2011 and is expected to exceed 1400 by the end of 2012. These figures qualify our centre to be classified as 'high volume', both for the institution and for the individual interventional operators. The initial number of expected primary PCI procedures will be in excess of 600 procedures per year. Guidelines also emphasize the door to balloon time (DBT), which should not exceed 90 minutes. This interval mainly represents in-hospital delay and reflects the efficiency of the hospital system in the rapid recognition and transfer of the STEMI patient to the catheterization laboratory for primary-PCI. Although DBT is clearly important and is in the forefront of planning for the wide primary PCI program, it is not the only important time interval. Myocardial necrosis begins before the patient arrives to the hospital and even before first medical contact, so time is of the essence. Therefore, our primary PCI program includes a nationwide awareness program for both the population and health care professionals to reduce the pre-hospital delay. We have also taken steps to improve the pre-hospital diagnosis of STEMI. In addition

  17. Hydrodynamic trapping in the Cretaceous Nahr Umr lower sand of the North Area, Offshore Qatar

    SciTech Connect

    Wells, P.R.A.

    1988-03-01

    A hydrodynamic model is described to account for oil and gas occurrences in the Cretaceous of offshore Qatar, in the Arabian Gulf. Variable and inconsistent fluid levels and variable formation water potentials and salinities cannot be explained by combinations of stratigraphic and structural trapping. Indeed, there is no structural closure to the southwest of the oil and gas accumulations. The water-potential and salinity data and oil distribution are consistent with this model and indicate that a vigorous hydrodynamic system pervades the Cretaceous of the Arabian Gulf region. Extensive upward cross-formational discharge is taking place in the North Area. This cross-formation water flow could be partly responsible for localized leaching and reservoir enhancement in the chalky limestones.

  18. Primary coronary angioplasty for ST-Elevation Myocardial Infarction in Qatar: First nationwide program

    PubMed Central

    Gehani, Abdurrazzak; Al Suwaidi, Jassim; Arafa, Salah; Tamimi, Omer; Alqahtani, Awad; Al-Nabti, Abdulrahman; Arabi, Abdulrahman; Aboughazala, Tarek; Bonow, Robert O; Yacoub, Magdi

    2012-01-01

    Abstract: In this article, we outline the plans, protocols and strategies to set up the first nationwide primary Percutaneous Coronary Intervention (PCI) program for ST-elevation myocardial Infarction (STEMI) in Qatar, as well as the difficulties and the multi-disciplinary solutions that we adopted in preparation. We will also report some of the landmark literature that guided our plans. The guidelines underscore the need for adequate number of procedures to justify establishing a primary-PCI service and maintain competency. The number of both diagnostic and interventional procedures in our centre has increased substantially over the years. The number of diagnostic procedures has increased from 1470 in 2007, to 2200 in 2009 and is projected to exceed 3000 by the end of 2012. The total number of PCIs has also increased from 443 in 2007, to 646 in 2009 and 1176 in 2011 and is expected to exceed 1400 by the end of 2012. These figures qualify our centre to be classified as ‘high volume’, both for the institution and for the individual interventional operators. The initial number of expected primary PCI procedures will be in excess of 600 procedures per year. Guidelines also emphasize the door to balloon time (DBT), which should not exceed 90 minutes. This interval mainly represents in-hospital delay and reflects the efficiency of the hospital system in the rapid recognition and transfer of the STEMI patient to the catheterization laboratory for primary-PCI. Although DBT is clearly important and is in the forefront of planning for the wide primary PCI program, it is not the only important time interval. Myocardial necrosis begins before the patient arrives to the hospital and even before first medical contact, so time is of the essence. Therefore, our primary PCI program includes a nationwide awareness program for both the population and health care professionals to reduce the pre-hospital delay. We have also taken steps to improve the pre-hospital diagnosis of

  19. Meta-analyses of genetic studies on major depressive disorder.

    PubMed

    López-León, S; Janssens, A C J W; González-Zuloeta Ladd, A M; Del-Favero, J; Claes, S J; Oostra, B A; van Duijn, C M

    2008-08-01

    The genetic basis of major depressive disorder (MDD) has been investigated extensively, but the identification of MDD genes has been hampered by conflicting results from underpowered studies. We review all MDD case-control genetic association studies published before June 2007 and perform meta-analyses for polymorphisms that had been investigated in at least three studies. The study selection and data extraction were performed in duplicate by two independent investigators. The 183 papers that met our criteria studied 393 polymorphisms in 102 genes. Twenty-two polymorphisms (6%) were investigated in at least three studies. Seven polymorphisms had been evaluated in previous meta-analyses, 5 of these had new data available. Hence, we performed meta-analyses for 20 polymorphisms in 18 genes. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Statistically significant associations were found for the APOE varepsilon2 (OR, 0.51), GNB3 825T (OR, 1.38), MTHFR 677T (OR, 1.20), SLC6A4 44 bp Ins/Del S (OR, 1.11) alleles and the SLC6A3 40 bpVNTR 9/10 genotype (OR, 2.06). To date, there is statistically significant evidence for six MDD susceptibility genes (APOE, DRD4, GNB3, MTHFR, SLC6A3 and SLC6A4). PMID:17938638

  20. Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics.

    PubMed

    Hjörleifsson, Stefán; Schei, Edvin

    2006-07-01

    Technology development in human genetics is fraught with uncertainty, controversy and unresolved moral issues, and industry scientists are sometimes accused of neglecting the implications of their work. The present study was carried out to elicit industry scientists' reflections on the relationship between commercial, scientific and ethical dimensions of present day genetics and the resources needed for robust governance of new technologies. Interviewing scientists of the company deCODE genetics in Iceland, we found that in spite of optimism, the informants revealed ambiguity and uncertainty concerning the use of human genetic technologies for the prevention of common diseases. They concurred that uncritical marketing of scientific success might cause exaggerated public expectations of health benefits from genetics, with the risk of backfiring and causing resistance to genetics in the population. On the other hand, the scientists did not address dilemmas arising from the commercial nature of their own employer. Although the scientists tended to describe public fear as irrational, they identified issues where scepticism might be well founded and explored examples where they, despite expert knowledge, held ambiguous or tentative personal views on the use of predictive genetic technologies. The rationality of science was not seen as sufficient to ensure beneficial governance of new technologies. The reflexivity and suspension of judgement demonstrated in the interviews exemplify productive features of moral deliberation in complex situations. Scientists should take part in dialogues concerning the governance of genetic technologies, acknowledge any vested interests, and use their expertise to highlight, not conceal the technical and moral complexity involved. PMID:16622446

  1. Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study.

    PubMed

    Diaz-Lacava, A N; Walier, M; Holler, D; Steffens, M; Gieger, C; Furlanello, C; Lamina, C; Wichmann, H E; Becker, T

    2015-01-01

    Aiming to investigate fine-scale patterns of genetic heterogeneity in modern humans from a geographic perspective, a genetic geostatistical approach framed within a geographic information system is presented. A sample collected for prospective studies in a small area of southern Germany was analyzed. None indication of genetic heterogeneity was detected in previous analysis. Socio-demographic and genotypic data of German citizens were analyzed (212 SNPs; n = 728). Genetic heterogeneity was evaluated with observed heterozygosity (H O ). Best-fitting spatial autoregressive models were identified, using socio-demographic variables as covariates. Spatial analysis included surface interpolation and geostatistics of observed and predicted patterns. Prediction accuracy was quantified. Spatial autocorrelation was detected for both socio-demographic and genetic variables. Augsburg City and eastern suburban areas showed higher H O values. The selected model gave best predictions in suburban areas. Fine-scale patterns of genetic heterogeneity were observed. In accordance to literature, more urbanized areas showed higher levels of admixture. This approach showed efficacy for detecting and analyzing subtle patterns of genetic heterogeneity within small areas. It is scalable in number of loci, even up to whole-genome analysis. It may be suggested that this approach may be applicable to investigate the underlying genetic history that is, at least partially, embedded in geographic data. PMID:26258132

  2. Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study

    PubMed Central

    Diaz-Lacava, A. N.; Walier, M.; Holler, D.; Steffens, M.; Gieger, C.; Furlanello, C.; Lamina, C.; Wichmann, H. E.; Becker, T.

    2015-01-01

    Aiming to investigate fine-scale patterns of genetic heterogeneity in modern humans from a geographic perspective, a genetic geostatistical approach framed within a geographic information system is presented. A sample collected for prospective studies in a small area of southern Germany was analyzed. None indication of genetic heterogeneity was detected in previous analysis. Socio-demographic and genotypic data of German citizens were analyzed (212 SNPs; n = 728). Genetic heterogeneity was evaluated with observed heterozygosity (HO). Best-fitting spatial autoregressive models were identified, using socio-demographic variables as covariates. Spatial analysis included surface interpolation and geostatistics of observed and predicted patterns. Prediction accuracy was quantified. Spatial autocorrelation was detected for both socio-demographic and genetic variables. Augsburg City and eastern suburban areas showed higher HO values. The selected model gave best predictions in suburban areas. Fine-scale patterns of genetic heterogeneity were observed. In accordance to literature, more urbanized areas showed higher levels of admixture. This approach showed efficacy for detecting and analyzing subtle patterns of genetic heterogeneity within small areas. It is scalable in number of loci, even up to whole-genome analysis. It may be suggested that this approach may be applicable to investigate the underlying genetic history that is, at least partially, embedded in geographic data. PMID:26258132

  3. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.

    PubMed

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A; State, Matthew W; Tischfield, Jay A; Hoekstra, Pieter J; Heiman, Gary A

    2015-02-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS. PMID:24771252

  4. Genetic studies of bipolar affective disorder in large families.

    PubMed

    Blackwood, D H; Visscher, P M; Muir, W J

    2001-06-01

    Background Genetic factors are known to be important in the aetiology of bipolar disorder. Aims To review linkage studies in extended families multiply affected with bipolar disorder. Method Selective review of linkage studies of bipolar disorder emphasising the gains and drawbacks of studying large multiply-affected families and comparing the statistical methods used for data analysis. Results Linkage of bipolar disorder to several chromosome regions including 4p, 4q, 10p, 12q, 16p, 18q, 21q and Xq has first been reported in extended families. In other families chromosomal rearrangements associated with affective illnesses provide signposts to the location of disease-related genes. Statistical analyses using variance component methods can be applied to extended families, require no prior knowledge of the disease inheritance, and can test multilocus models. Conclusion Studying single large pedigrees combined with variance component analysis is an efficient and effective strategy likely to lead to further insights into the genetic basis of bipolar disorders. PMID:11388952

  5. Population genetic studies in the Balkans. I. Serum proteins.

    PubMed

    Scheil, H G; Scheffrahn, W; Schmidt, H D; Huckenbeck, W; Efremovska, L; Xirotiris, N

    2001-09-01

    Within a study of the genetics of Southeastern European populations seven serum protein polymorphisms (AMY2, BF, C3, CP, GC, HPA, TF) were examined in three samples of Aromuns (Albania: the village of Andon Poci, province Gjirocaster, Republic of Macedonia: Stip region, Romania: the village Kogalniceanu, province Dobruja) and four reference samples (Albanians: Tirana, Romanians: Constanta and Ploiesti as well as Greeks (Northeastern Greece)). The Aromun samples from Albania and Romania form one separate cluster and the reference samples together with the Aromuns from Macedonia (Stip region) form a second one. PMID:11591047

  6. Studies of genetic transformation of higher plants using irradiated pollen

    SciTech Connect

    Chyi, Y.S.

    1984-01-01

    Pandey has reported extensively on an unusual genetic phenomenon he called egg transformation. When compatible pollen was treated wth genetically lethal dosage of ..gamma..-radiation (100,000 rad), and used as mentor pollen to overcome selfincompatibility of several Nicotiana species, some genetic characters were found to be transferred from the radiation killed pollen to nonhybrid progeny. Observed transformants were fertile, cytogenetically normal, and had maternal phenotypes except for those specific traits transferred from the donors. Heavily irradiated pollen was believed to discharge its radiation-fragmented DNA (chromatin) into the embryo sac and bring about the transformation of the egg. The frequency of gene transfer was reported to be over 50%, and happened for all three characters Pandey studied - self incompatible specificities, flower color, and pollen color. Plant species studied were tomato, pea, apple, rapeseed, and Nicotiana species, including various stocks from Dr. Pandey. Treatments included pollinations with soley irradiated donor pollen, with a mixture of irradiated donor and normal self pollen, with a mixture of normal donor and self pollen, and double pollinations with irradiated donor pollen and normal self pollen, using different time intervals to separate the two pollinations. A total of 6210 pollinations were made, and 17,522 seedlings representing 87,750 potential transformational events were screened. In no case was an unambiguous transformant recovered. This research was unable to confirm or expand upon the findings of Dr. Pandey, or elucidate the mechanisms underlying such phenomena. Alternative explanations for Pandey's data were postulated. This approach to gene transfer by using irradiated pollen appears to be of little practical use to plant breeders.

  7. [Genome-wide association study on complex diseases: study design and genetic markers].

    PubMed

    Yan, Wei-Li

    2008-04-01

    Genome-wide association study used to be a dream of geneticists years ago, but now it came true. Since the first paper reported the finding of genetic variation contributing to human age-related macular degeneration by genome-wide association study in 2005, a numbers of whole genome studies have been published. The present paper reviewed some common comments in whole genome association study on complex diseases, including achievements of genome-wide association studies on complex traits or diseases, principles of study design, selection of genetic marker in genome, and comparisons of different commercial products for whole genome association study. Finally a newly defined genetic variation, copy number variation, was briefly introduced. This paper also summarized the shortcomings of current genome-wide association studies and perspectives of its future. PMID:18424408

  8. The Case of the "Tainted" Taco Shells: A Case Study on Genetically Modified Foods

    ERIC Educational Resources Information Center

    Taylor, Ann T. S.

    2004-01-01

    This case study introduces students to the use of genetically modified foods. Students learn how genetically modified plants are made, and then they read primary literature papers to evaluate the environmental, economic, and health issues. (Contains 2 figures.)

  9. Biochemical and Molecular Genetic Studies on Biosilica Morphogenesis in Diatoms

    NASA Astrophysics Data System (ADS)

    Kroger, N.; Poulsen, N.

    2006-12-01

    Diatoms are a large group of unicellular microalgae encased by silica cell walls that exhibit species-specific micro-and nanopatterns. Previously, we have characterized from diatoms unique phosphoproteins (termed silaffins) and unusually long polyamine chains (termed LCPA), which have both been implicated in biosilica formation. While the chemical structures of LCPA are largely conserved among different diatom species, the silaffins exhibit extensive structural variations. In vitro studies on the silica formation activities of silaffins and LCPA from the diatom Thalassiosira pseudonana indicate that silica morphogenesis is primarily determined by silaffins rather than LCPA. Recently, the complete genome sequence of T. pseudonana has become available, which for the first time opens the door to employ functional genomic approaches for studying the mechanism of silica biomineralization. To this end we have established the first genetic transformation system for T. pseudonana, which will be instrumental for analyzing the functions of silaffins in vivo, and for identifying new components of the diatom silica forming machinery. Here we describe the current knowledge on the structures and properties of silaffins and LCPA, the methods for genetic manipulation of T. pseudonana, and the first experimental steps towards functional genomics in diatoms.

  10. Osteoporosis and genetic influence: a three-generation study.

    PubMed Central

    Kahn, S. A.; Pace, J. E.; Cox, M. L.; Gau, D. W.; Cox, S. A.; Hodkinson, H. M.

    1994-01-01

    We have studied 27 triads of mother, daughter and grandmother for possible genetic influence on distal and proximal forearm bone density, measured by single photon absorptiometry. We found a significant correlation of bone density at the proximal forearm between the mothers and grandmothers (r = 0.499, P < 0.01). There was also a weak correlation between proximal forearm bone densities of mothers and daughters (r = 0.327, P < 0.1). Significant correlations were found between the three generations for grip strength, pedometry, height and triceps skinfold thickness. There was also significant correlation between mother and grandmother for alcohol intake. There was no correlation for contraceptive pill use, smoking, dietary calcium intake, body weight or body mass index. The study concludes that, although there are similarities in bone mineral content between the three generations, genetic factors cannot be conclusively proven to be the major determinant of bone density. Lifestyle and environmental factors may have a bearing on achieving the peak bone mass and subsequent development of osteoporosis. PMID:7824412

  11. Children of the atomic bomb survivors: A genetic study

    SciTech Connect

    Neel, J.V.; Schull, W.J.

    1991-01-01

    This volume represents the results of over 40 years of study of the latent health effects on the survivors of the atomic bomb blasts. Planning for this research began in 1946 and data collection has been ongoing since 1948. The work represents the efforts of both US and Japanese agencies and presents 13 papers which the editors believe represent the best scientific information related to the genetic effects of radiation exposure. In general, the results presented here indicate that radiation exposure effects on reproductive cells are less than previously thought. The paper contained here examine that question in light of effects on pregnancy outcome, sex ratio, congenital defects, and early mortality of children. The papers also present helpful comparison of these results with the results seen in experimental radiation studies with animals. For anyone interested in the risks associated with radiation studies, this book represents a vital collection of information.

  12. Discerning the Ancestry of European Americans in Genetic Association Studies

    PubMed Central

    Price, Alkes L; Butler, Johannah; Patterson, Nick; Capelli, Cristian; Pascali, Vincenzo L; Scarnicci, Francesca; Ruiz-Linares, Andres; Groop, Leif; Saetta, Angelica A; Korkolopoulou, Penelope; Seligsohn, Uri; Waliszewska, Alicja; Schirmer, Christine; Ardlie, Kristin; Ramos, Alexis; Nemesh, James; Arbeitman, Lori; Goldstein, David B

    2008-01-01

    European Americans are often treated as a homogeneous group, but in fact form a structured population due to historical immigration of diverse source populations. Discerning the ancestry of European Americans genotyped in association studies is important in order to prevent false-positive or false-negative associations due to population stratification and to identify genetic variants whose contribution to disease risk differs across European ancestries. Here, we investigate empirical patterns of population structure in European Americans, analyzing 4,198 samples from four genome-wide association studies to show that components roughly corresponding to northwest European, southeast European, and Ashkenazi Jewish ancestry are the main sources of European American population structure. Building on this insight, we constructed a panel of 300 validated markers that are highly informative for distinguishing these ancestries. We demonstrate that this panel of markers can be used to correct for stratification in association studies that do not generate dense genotype data. PMID:18208327

  13. Methods to Study Metastasis in Genetically Modified Mice.

    PubMed

    Kabeer, Farhia; Beverly, Levi J; Darrasse-Jèze, Guillaume; Podsypanina, Katrina

    2016-02-01

    Metastasis is often modeled by xenotransplantation of cell lines in immunodeficient mice. A wealth of information about tumor cell behavior in the new environment is obtained from these efforts. Yet by design, this approach is "tumor-centric," as it focuses on cell-autonomous determinants of human tumor dissemination in mouse tissues, in effect using the animal body as a sophisticated "Petri dish" providing nutrients and support for tumor growth. Transgenic or gene knockout mouse models of cancer allow the study of tumor spread as a systemic disease and offer a complimentary approach for studying the natural history of cancer. This introduction is aimed at describing the overall methodological approach to studying metastasis in genetically modified mice, with a particular focus on using animals with regulated expression of potent human oncogenes in the breast. PMID:26832689

  14. The power of genetic monitoring for studying demography, ecology and genetics of a reintroduced brown bear population.

    PubMed

    De Barba, M; Waits, L P; Garton, E O; Genovesi, P; Randi, E; Mustoni, A; Groff, C

    2010-09-01

    Genetic monitoring has rarely been used for wildlife translocations despite the potential benefits this approach offers, compared to traditional field-based methods. We applied genetic monitoring to the reintroduced brown bear population in northern Italy. From 2002 to 2008, 2781 hair and faecal samples collected noninvasively plus 12 samples obtained from captured or dead bears were used to follow the demographic and geographical expansion and changes in genetic composition. Individual genotypes were used to reconstruct the wild pedigree and revealed that the population increased rapidly, from nine founders to >27 individuals in 2008 (lambda=1.17-1.19). Spatial mapping of bear samples indicated that most bears were distributed in the region surrounding the translocation site; however, individual bears were found up to 163 km away. Genetic diversity in the population was high, with expected heterozygosity of 0.74-0.79 and allelic richness of 4.55-5.41. However, multi-year genetic monitoring data showed that mortality rates were elevated, immigration did not occur, one dominant male sired all cubs born from 2002 to 2005, genetic diversity declined, relatedness increased, inbreeding occurred, and the effective population size was extremely small (Ne=3.03, ecological method). The comprehensive information collected through genetic monitoring is critical for implementing future conservation plans for the brown bear population in the Italian Alps. This study provides a model for other reintroduction programmes by demonstrating how genetic monitoring can be implemented to uncover aspects of the demography, ecology and genetics of small and reintroduced populations that will advance our understanding of the processes influencing their viability, evolution, and successful restoration. PMID:20735733

  15. Intestinal Parasitic Infections among Long-Term-Residents and Settled Immigrants in Qatar in the Period 2005 to 2011

    PubMed Central

    Abu-Madi, Marawan A.; Behnke, Jerzy M.; Doiphode, Sanjay H.

    2013-01-01

    The expanding economy of Qatar in the last two decades has attracted immigrants, often from countries with poor socio-economic levels. Many arrive with patent intestinal parasitic infections, and recent analyses have indicated consistently rising trends in the prevalence of some infections. Here, we examined 18,563 hospital records of subjects in Qatar seeking medical assistance for a variety of ailments, combining data from 2009 to 2011 with the earlier dataset from 2005 to 2008 to enable trends to be identified across a 7-year period. We found that 8.6% were infected with one or more species of parasites, however in contrast to the earlier period (2005–2008), in the latter 3 years there were falling trends of prevalence providing some optimism that parasitic infections among the resident immigrants have begun to decline. We identified also geographic regions from which resident workers still maintain a relatively high prevalence of helminth infections despite their long-term residence in Qatar. PMID:23478576

  16. The Qatar National Historic Environment Record: a Platform for the Development of a Fully-Integrated Cultural Heritage Management Application

    NASA Astrophysics Data System (ADS)

    Cuttler, R. T. H.; Tonner, T. W. W.; Al-Naimi, F. A.; Dingwall, L. M.; Al-Hemaidi, N.

    2013-07-01

    The development of the Qatar National Historic Environment Record (QNHER) by the Qatar Museums Authority and the University of Birmingham in 2008 was based on a customised, bilingual Access database and ArcGIS. While both platforms are stable and well supported, neither was designed for the documentation and retrieval of cultural heritage data. As a result it was decided to develop a custom application using Open Source code. The core module of this application is now completed and is orientated towards the storage and retrieval of geospatial heritage data for the curation of heritage assets. Based on MIDAS Heritage data standards and regionally relevant thesauri, it is a truly bilingual system. Significant attention has been paid to the user interface, which is userfriendly and intuitive. Based on a suite of web services and accessed through a web browser, the system makes full use of internet resources such as Google Maps and Bing Maps. The application avoids long term vendor ''tie-ins'' and as a fully integrated data management system, is now an important tool for both cultural resource managers and heritage researchers in Qatar.

  17. Deaf Adults’ Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study

    PubMed Central

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults’ motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf, or both communities, rated interest in testing for 21 reasons covering 5 life domains. Findings suggest strong interest in testing to learn why they are deaf, but little interest in using it for decisions about a partner or having children. Culturally mediated variation was also demonstrated. Deaf and both communities groups viewed testing as useful for more life domains than the hearing community group. Deaf and both communities had similar motivations related to further exploration, understanding, or strengthening of deafness. Motivations related to “hearing” were also relevant for both communities. We conclude that cultural affiliation is an important factor for constructing motivations for genetic testing. PMID:20488870

  18. Modeling AEC-New approaches to study rare genetic disorders.

    PubMed

    Koch, Peter J; Dinella, Jason; Fete, Mary; Siegfried, Elaine C; Koster, Maranke I

    2014-10-01

    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC. However, it is currently not clear how mutations in TP63 lead to the various defects seen in the patients' skin. In this review, we will discuss current knowledge of the AEC disease mechanism obtained by studying patient tissue and genetically engineered mouse models designed to mimic aspects of the disorder. We will then focus on new approaches to model AEC, including the use of patient cells and stem cell technology to replicate the disease in a human tissue culture model. The latter approach will advance our understanding of the disease and will allow for the development of new in vitro systems to identify drugs for the treatment of skin erosions in AEC patients. Further, the use of stem cell technology, in particular induced pluripotent stem cells (iPSC), will enable researchers to develop new therapeutic approaches to treat the disease using the patient's own cells (autologous keratinocyte transplantation) after correction of the disease-causing mutations. PMID:24665072

  19. Simultaneous Bayesian analysis of contingency tables in genetic association studies.

    PubMed

    Dickhaus, Thorsten

    2015-08-01

    Genetic association studies lead to simultaneous categorical data analysis. The sample for every genetic locus consists of a contingency table containing the numbers of observed genotype-phenotype combinations. Under case-control design, the row counts of every table are identical and fixed, while column counts are random. The aim of the statistical analysis is to test independence of the phenotype and the genotype at every locus. We present an objective Bayesian methodology for these association tests, which relies on the conjugacy of Dirichlet and multinomial distributions. Being based on the likelihood principle, the Bayesian tests avoid looping over all tables with given marginals. Making use of data generated by The Wellcome Trust Case Control Consortium (WTCCC), we illustrate that the ordering of the Bayes factors shows a good agreement with that of frequentist p-values. Furthermore, we deal with specifying prior probabilities for the validity of the null hypotheses, by taking linkage disequilibrium structure into account and exploiting the concept of effective numbers of tests. Application of a Bayesian decision theoretic multiple test procedure to the WTCCC data illustrates the proposed methodology. Finally, we discuss two methods for reconciling frequentist and Bayesian approaches to the multiple association test problem. PMID:26215535

  20. The Relevance of HLA Sequencing in Population Genetics Studies

    PubMed Central

    Sanchez-Mazas, Alicia

    2014-01-01

    Next generation sequencing (NGS) is currently being adapted by different biotechnological platforms to the standard typing method for HLA polymorphism, the huge diversity of which makes this initiative particularly challenging. Boosting the molecular characterization of the HLA genes through efficient, rapid, and low-cost technologies is expected to amplify the success of tissue transplantation by enabling us to find donor-recipient matching for rare phenotypes. But the application of NGS technologies to the molecular mapping of the MHC region also anticipates essential changes in population genetic studies. Huge amounts of HLA sequence data will be available in the next years for different populations, with the potential to change our understanding of HLA variation in humans. In this review, we first explain how HLA sequencing allows a better assessment of the HLA diversity in human populations, taking also into account the methodological difficulties it introduces at the statistical level; secondly, we show how analyzing HLA sequence variation may improve our comprehension of population genetic relationships by facilitating the identification of demographic events that marked human evolution; finally, we discuss the interest of both HLA and genome-wide sequencing and genotyping in detecting functionally significant SNPs in the MHC region, the latter having also contributed to the makeup of the HLA molecular diversity observed today. PMID:25126587

  1. Transgenic animal models of neurodegeneration based on human genetic studies

    PubMed Central

    Richie, Christopher T.; Hoffer, Barry J.; Airavaara, Mikko

    2011-01-01

    The identification of genes linked to neurodegenerative diseases such as Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), Huntington's disease (HD) and Parkinson's disease (PD) has led to the development of animal models for studying mechanism and evaluating potential therapies. None of the transgenic models developed based on disease-associated genes have been able to fully recapitulate the behavioral and pathological features of the corresponding disease. However, there has been enormous progress made in identifying potential therapeutic targets and understanding some of the common mechanisms of neurodegeneration. In this review, we will discuss transgenic animal models for AD, ALS, HD and PD that are based on human genetic studies. All of the diseases discussed have active or complete clinical trials for experimental treatments that benefited from transgenic models of the disease. PMID:20931247

  2. A new dawn for genetic association studies in multiple sclerosis.

    PubMed

    Kantarci, Orhun H

    2016-08-01

    Before the genomics technology revolution allowed us to do genome-wide science, genetics research relied on our limited knowledge about a subject to generate hypothesis and candidate genes to study. Despite the level of naiveté, several associations with susceptibility to a complex disease such as multiple sclerosis (MS) were discovered. Of these, HLA-DRB1 and IL7R (1) stand out as being confirmed and refined early by the genome-wide association studies (GWAS) that followed.(2) Despite the expense and gargantuan efforts, these GWAS have successfully led to the discovery of more than 100 additional genes, albeit with smaller effect sizes, that contribute to MS susceptibility.(3) This list keeps growing, but it comes with no surprise that most of these genes identified the immune system as one large candidate for MS susceptibility. PMID:27540593

  3. Genetic studies in relation to kuru: an overview.

    PubMed

    Goldfarb, L G; Cervenakova, L; Gajdusek, D C

    2004-06-01

    Kuru is a subacute neurodegenerative disease presenting with limb ataxia, dysarthria, and a shivering tremor. The disease progress to complete motor and mental incapacity and death within 6 to 24 months. Neuropathologically, a typical pattern of neuronal loss, astrocytic and microglial proliferation, characteristic "kuru-type" amyloid plaques, and PrP deposits in the cerebral cortex and cerebellum are observed. Kuru is the prototype of a group of human transmissible spongiform encephalopathies (TSEs), or "prion" diseases, that include hereditary, sporadic and infectious forms. The latest member of this group, the variant Creutzfeldt-Jakob disease (vCJD), linked to transmission of bovine spongiform encephalopathy (BSE) to humans, shows features similar to kuru. Kuru has emerged at the beginning of the 1900s in a small indigenous population of New-Guinean Eastern Highlands, reached epidemic proportions in the mid-1950s and disappeared progressively in the latter half of the century to complete absence at the end of the 1990s. Early studies made infection, the first etiologic assumption, seem unlikely and led to a hypothesis that kuru might be a genetically determined or genetically mediated illness. After transmissibility of kuru had been discovered and all major epidemiologic phenomena adequately explained by the spread of an infectious agent with long incubation period through the practice of cannibalism, the pattern of occurrence still continued to suggest a role for genetic predisposition. Recent studies indicate that individuals homozygous for Methionine at a polymorphic position 129 of the prion protein were preferentially affected during the kuru epidemic. The carriers of the alternative 129Met/Val and 129Val/Val genotypes had a longer incubation period and thus developed disease at a later age and at a later stage of the epidemic. Observations made during the kuru epidemic are helpful in the understanding of the current vCJD outbreak, and vice versa clinical

  4. Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

    PubMed

    Huang, Minjun; Graham, Britney E; Zhang, Ge; Harder, Reed; Kodaman, Nuri; Moore, Jason H; Muglia, Louis; Williams, Scott M

    2016-01-01

    Genetic studies of human diseases have identified many variants associated with pathogenesis and severity. However, most studies have used only statistical association to assess putative relationships to disease, and ignored other factors for evaluation. For example, evolution is a factor that has shaped disease risk, changing allele frequencies as human populations migrated into and inhabited new environments. Since many common variants differ among populations in frequency, as does disease prevalence, we hypothesized that patterns of disease and population structure, taken together, will inform association studies. Thus, the population distributions of allelic risk variants should reflect the distributions of their associated diseases. Evolutionary Triangulation (ET) exploits this evolutionary differentiation by comparing population structure among three populations with variable patterns of disease prevalence. By selecting populations based on patterns where two have similar rates of disease that differ substantially from a third, we performed a proof of principle analysis for this method. We examined three disease phenotypes, lactase persistence, melanoma, and Type 2 diabetes mellitus. We show that for lactase persistence, a phenotype with a simple genetic architecture, ET identifies the key gene, lactase. For melanoma, ET identifies several genes associated with this disease and/or phenotypes related to it, such as skin color genes. ET was less obviously successful for Type 2 diabetes mellitus, perhaps because of the small effect sizes in known risk loci and recent environmental changes that have altered disease risk. Alternatively, ET may have revealed new genes involved in conferring disease risk for diabetes that did not meet nominal GWAS significance thresholds. We also compared ET to another method used to filter for phenotype associated genes, population branch statistic (PBS), and show that ET performs better in identifying genes known to associate with

  5. Genetic Influence on the Variance in Coincidence Timing and Its Covariance with IQ: A Twin Study.

    ERIC Educational Resources Information Center

    Wright, Margaret J.; Smith, Glen A.; Geffen, Gina M.; Geffen, Laurie B.; Martin, Nicholas G.

    2000-01-01

    Studied whether genetic variability explained some of the variance in coincidence timing and whether common genetic factors accounted for the association with intellectual functioning using 55 pairs of 16-year-old twins. Results suggest that the genetic influence operating on coincidence timing skills was of similar magnitude to that of response…

  6. Genome-wide association study of swine farrowing traits. Part I: Genetic and genomic parameter estimates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The primary objective of this study was to determine genetic and genomic parameters among swine farrowing traits. Genetic parameters were obtained by using MTDFREML and genomic parameters were obtained using GenSel. Genetic and residual variances obtained from MTDFREML were used as priors for the ...

  7. Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies.

    PubMed

    Greenberg, David A; Subaran, Ryan

    2011-01-01

    Although it is accepted that idiopathic generalized epilepsy (IGE) is strongly, if not exclusively, influenced by genetic factors, there is little consensus on what those genetic influences may be, except for one point of agreement: epilepsy is a "channelopathy." This point of agreement has continued despite the failure of studies investigating channel genes to demonstrate the primacy of their influence on IGE expression. The belief is sufficiently entrenched that the more important issues involving phenotype definition, data collection, methods of analysis, and the interpretation of results have become subordinate to it. The goal of this article is to spark discussion of where the study of epilepsy genetics has been and where it is going, suggesting we may never get there if we continue on the current road. We use the long history of psychiatric genetic studies as a mirror and starting point to illustrate that only when we expand our outlook on how to study the genetics of the epilepsies, consider other mechanisms that could lead to epilepsy susceptibility, and, especially, focus on the critical problem of phenotype definition, will the major influences on common epilepsy begin to be understood. PMID:21219301

  8. Clinical characteristics of respiratory syncytial virus infection in hospitalized healthy infants and young children in Qatar.

    PubMed

    Wahab, A A; Dawod, S T; Raman, H M

    2001-12-01

    To evaluate seasonal trends, clinical profile, and outcome of disease in previously healthy infants and young children hospitalized for respiratory syncytial virus (RSV) infection at Hamad Medical Corporation in the state of Qatar, we reviewed the records of 257 children admitted between 1 January 1996 and 31 December 1998. RSV epidemics occurred yearly during the winter months with peak hospitalizations occuring between November and February. Of the 257 admissions, 160 (62.3 per cent) were male and 97 (37.7 per cent) female. The mean age of all children was 5.7 months (range, 10 days to 32 months). The most common admitting diagnoses were bronchiolitis (59.9 per cent), pneumonia (17.5 per cent), bronchiolitis with pneumonia (8.9 per cent), possible sepsis (7.8 per cent), asthma (4.7 per cent) and apnea (1.2 per cent). A family history of asthma was quite common (63.8 per cent), although no statistical significant difference was noted in complication or length of stay. Treatment was supportive, the majority of the patients received oxygen therapy in 77.8 per cent of cases, bronchodilators in 85.4 per cent, and antibiotics therapy in 49.4 per cent. The median duration of hospital stay was 6 days (range, 1 to 29 days). Of the 14 (5.4 per cent) patients requiring intensive care, four (1.6 per cent) needed mechanical ventilation. No deaths were reported, but subjects aged < or = 12 months had a significantly higher oxygen requirement, intensive care unit admission, bronchodilators and antibiotics therapy than those > 12 months old. Within 1-2 years after admission with RSV infection, 63 of the 257 patients attended for recurrent episodes of wheezy chest. These results indicate that, during the season of infection, RSV is an important pathogen in infants and young children in the state of Qatar, highlighting the need for development of effective vaccines to ameliorate the impact of annual RSV epidemics in infants and young children. PMID:11827306

  9. Genetic Studies on Diabetic Microvascular Complications: Focusing on Genome-Wide Association Studies

    PubMed Central

    Kwak, Soo Heon

    2015-01-01

    Diabetes is a common metabolic disorder with a worldwide prevalence of 8.3% and is the leading cause of visual loss, end-stage renal disease and amputation. Recently, genome-wide association studies (GWASs) have identified genetic risk factors for diabetic microvascular complications of retinopathy, nephropathy, and neuropathy. We summarized the recent findings of GWASs on diabetic microvascular complications and highlighted the challenges and our opinion on future directives. Five GWASs were conducted on diabetic retinopathy, nine on nephropathy, and one on neuropathic pain. The majority of recent GWASs were underpowered and heterogeneous in terms of study design, inclusion criteria and phenotype definition. Therefore, few reached the genome-wide significance threshold and the findings were inconsistent across the studies. Recent GWASs provided novel information on genetic risk factors and the possible pathophysiology of diabetic microvascular complications. However, further collaborative efforts to standardize phenotype definition and increase sample size are necessary for successful genetic studies on diabetic microvascular complications. PMID:26194074

  10. Population genetic studies in the genomic sequencing era

    PubMed Central

    CHEN, Hua

    2015-01-01

    Recent advances in high-throughput sequencing technologies have revolutionized the field of population genetics. Data now routinely contain genomic level polymorphism information, and the low cost of DNA sequencing enables researchers to investigate tens of thousands of subjects at a time. This provides an unprecedented opportunity to address fundamental evolutionary questions, while posing challenges on traditional population genetic theories and methods. This review provides an overview of the recent methodological developments in the field of population genetics, specifically methods used to infer ancient population history and investigate natural selection using large-sample, large-scale genetic data. Several open questions are also discussed at the end of the review. PMID:26228473

  11. Association of genetic variants with hypertension in a longitudinal population-based genetic epidemiological study

    PubMed Central

    YAMADA, YOSHIJI; MATSUI, KOTA; TAKEUCHI, ICHIRO; OGURI, MITSUTOSHI; FUJIMAKI, TETSUO

    2015-01-01

    We previously identified 9 genes and chromosomal region 3q28 as susceptibility loci for Japanese patients with myocardial infarction, ischemic stroke, or chronic kidney disease by genome-wide or candidate gene association studies. In the present study, we investigated the possible association of 13 single nucleotide polymorphisms (SNPs) at these 10 loci with the prevalence of hypertension or their association with blood pressure (BP) in community-dwelling individuals in Japan. The study subjects comprised 6,027 individuals (2,250 subjects with essential hypertension, 3,777 controls) who were recruited into the Inabe Health and Longevity Study, a longitudinal genetic epidemiological study on atherosclerotic, cardiovascular and metabolic diseases. The subjects were recruited from individuals who visited the Health Care Center of Inabe General Hospital for an annual health checkup, and they are followed up each year (mean follow-up period, 5 years). Longitudinal analysis with a generalized estimating equation and with adjustment for age, gender, body mass index and smoking status revealed that rs2116519 of family with sequence similarity 78, member B (FAM78B; P=0.0266), rs6929846 of butyrophilin, subfamily 2, member A1 (BTN2A1; P= 0.0013), rs146021107 of pancreatic and duodenal homeobox 1 (PDX1; P=0.0031) and rs1671021 of lethal giant larvae homolog 2 (Drosophila) (LLGL2; P=0.0372) were significantly (P<0.05) associated with the prevalence of hypertension. Longitudinal analysis with a generalized linear mixed-effect model and with adjustment for age, gender, body mass index and smoking status among individuals not taking anti-hypertensive medication revealed that rs6929846 of BTN2A1 was significantly associated with systolic (P=0.0017), diastolic (P=0.0008) and mean (P=0.0005) BP, and that rs2116519 of FAM78B, rs146021107 of PDX1 and rs1671021 of LLGL2 were significantly associated with diastolic (P=0.0495), systolic (P=0.0132), and both diastolic (P=0.0468) and mean

  12. Genetic Studies of Stuttering in a Founder Population

    PubMed Central

    Wittke-Thompson, Jacqueline K.; Ambrose, Nicoline; Yairi, Ehud; Roe, Cheryl; Cook, Edwin H.; Ober, Carole; Cox, Nancy J.

    2007-01-01

    Genome-wide linkage and association analyses were conducted to identify genetic determinants of stuttering in a founder population in which 48 individuals affected with stuttering are connected in a single 232-person genealogy. A novel approach was devised to account for all necessary relationships to enable multipoint linkage analysis. Regions with nominal evidence for linkage were found on chromosomes 3 (P=0.013, 208.8 centiMorgans (cM)), 13 (P=0.012, 52.6 cM), and 15 (P=0.02, 100 cM). Regions with nominal evidence for association with stuttering that overlapped with a linkage signal are located on chromosomes 3 (P=0.0047, 195 cM), 9 (P=0.0067, 46.5 cM), and 13 (P=0.0055, 52.6 cM). We also conducted the first meta-analysis for stuttering using results from linkage studies in the Hutterites and The Illinois International Genetics of Stuttering Project and identified regions with nominal evidence for linkage on chromosomes 2 (P=0.013, 180–195 cM) and 5 (P=0.0051, 105–120 cM; P=0.015, 120–135 cM). None of the linkage signals detected in the Hutterite sample alone, or in the meta-analysis, meet genome-wide criteria for significance, although some of the stronger signals overlap linkage mapping signals previously reported for other speech and language disorders. PMID:17276504

  13. A novel genetic framework for studying response to artificial selection

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Response to selection is fundamental to plant breeding. To gain insight into the genetic basis of response to selection, we propose a new experimental genetic framework to simultaneously map loci controlling specific traits associated with population improvement and characterize the allele frequenc...

  14. Exploring Genetic and Environmental Effects in Dysphonia: A Twin Study

    ERIC Educational Resources Information Center

    Simberg, Susanna; Santtila, Pekka; Soveri, Anna; Varjonen, Markus; Sala, Eeva; Sandnabba, N. Kenneth

    2009-01-01

    Purpose: To explore the existence of genetic effects as well as the interaction between potential genetic effects and a voice-demanding occupation on dysphonia. Method: One thousand seven hundred and twenty-eight Finnish twins (555 male; 1,173 female) born between 1961 and 1989 completed a questionnaire concerning vocal symptoms and occupation.…

  15. Hamartomatous polyps - a clinical and molecular genetic study.

    PubMed

    Jelsig, Anne Marie

    2016-08-01

    Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance. Patients with one or a few juvenile polyps are usually not offered clinical follow-up as the polyp(s) are considered not to harbour any malignant potential. Nevertheless, it is important to note that juvenile polyps and HPs are also found in patients with hereditary hamartomatous polyposis syndromes (HPS). Patients with HPS have an increased risk of cancer, recurrences of polyps, and extraintestinal complications. The syndromes are important to diagnose, as patients should be offered surveillance from childhood or early adolescence. The syndromes include juvenile polyposis syndrome, Peutz-Jeghers syndrome, and the PTEN hamartoma tumour syndrome. Currently, the HPS diagnoses are based on clinical criteria and are often assisted with genetic testing as candidate genes have been described for each syndrome. This thesis is based on six scientific papers. The overall aim of the studies was to expand the knowledge on clinical course and molecular genetics in patients with HPs and HPS, and to investigate research participants' attitude towards the results of extensive genetic testing.   Paper I: In the first paper we investigated the occurrence, anatomic distribution, and other demographics of juvenile polyps in the colon and rectum in Denmark in 1995-2014. Based on the Danish Pathology Data Bank we found that 1772 patients had 2108 JPs examined in the period, and we

  16. Integration of solar process heat into an existing thermal desalination plant in Qatar

    NASA Astrophysics Data System (ADS)

    Dieckmann, S.; Krishnamoorthy, G.; Aboumadi, M.; Pandian, Y.; Dersch, J.; Krüger, D.; Al-Rasheed, A. S.; Krüger, J.; Ottenburger, U.

    2016-05-01

    The water supply of many countries in the Middle East relies mainly on water desalination. In Qatar, the water network is completely fed with water from desalination plants. One of these power and desalination plants is located in Ras Abu Fontas, 20 km south of the capital Doha. The heat required for thermal desalination is provided by steam which is generated in waste heat recovery boilers (HRB) connected to gas turbines. Additionally, gas fired boilers or auxiliary firing in the HRBs are used in order to decouple the water generation from the electricity generation. In Ras Abu Fontas some auxiliary boilers run 24/7 because the HRB capacity does not match the demand of the desalination units. This paper contains the techno-economic analysis of two large-scale commercial solar field options, which could reduce the fuel consumption significantly. Both options employ parabolic trough technology with a nominal saturated steam output of 350 t/h at 15 bar (198°C, 240 MW). The first option uses direct steam generation without storage while the second relies on common thermal oil in combination with a molten salt thermal storage with 6 hours full-load capacity. The economic benefit of the integration of solar power depends mainly on the cost of the fossil alternative, and thus the price (respectively opportunity costs) of natural gas. At a natural gas price of 8 US-/MMBtu the internal rate of return on equity (IRR) is expected at about 5%.

  17. Occurrence of aflatoxin in commodities imported into Qatar, 1997-2000.

    PubMed

    Abdulkadar, A H W; Al-Ali, Abdulla; Al-Jedah, Jassim H

    2002-07-01

    The occurrence of aflatoxin in commodities imported into Qatar was investigated from 1999 to 2000. During the 4 years, 351 samples of susceptible commodities were analysed. Aflatoxin was detected in 71 (20%) samples in the range 0.1-20 microg kg(-1) and in 50 (14%) samples above the permitted level of 20 microg kg(-1). The highest incidence and levels of aflatoxin contamination were recorded in pistachio without shell followed by pistachio with shell. Aflatoxin levels >20 microg kg(-1) in the pistachio samples varied from 8.7 to 33%. The highest level of total aflatoxin found in pistachio without shell was 289 microg kg(-1). A few samples of corn and corn products (three of 54 analysed), peanut and peanut products (nine of 42 analysed) and other nuts like almond, walnut and cashew (one of 40 analysed) were found contaminated with low levels (0.1-20 microg kg(-1)) of aflatoxins. Only one sample of custard powder and one sample of roasted peanut were found with aflatoxin >20 microg kg(-1) PMID:12113661

  18. Genetic, Genomic and Epigenomic Studies of Balkan Endemic Nephropathy (Ben).

    PubMed

    Staneva, Rada G; Balabanski, L; Dimova, I; Rukova, B; Hadjidekova, S; Dimitrov, P; Simeonov, V; Ivanov, S; Vagarova, R; Malinov, M; Cukuranovic, R; Stefanovic, V; Polenakovic, M; Djonov, V; Galabov, A; Toncheva, D

    2015-01-01

    BEN is a primary, chronic tubulointerstitial nephritis characterized with chronic anemia, absence of edema, xantoderma, normal blood pressure and normal findings on the fundus oculi. The disease is distributed in restricted areas in Bulgaria, Romania, Croatia, Bosnia, Former Yugoslavia. Despite numerous studies on genetic and environmental factors and their possible involvement in BEN, its etiopathogenesis still remains elusive. Our recent study aim to elucidate the possible epigenetic component in BEN development. Whole genome DNA array methylation analysis was applied to compare the methylation profiles of male and female BEN patients from endemic regions in Bulgaria and Serbia and healthy controls. All three most prominent candidate genes with aberrations in the epigenetic profile discovered with this study are involved in the inflammatory/immune processes and oncogenesis. These data are in concordance with the reported pathological alterations in BEN. This research supports the role of epigenetic changes in BEN pathology. Exome sequencing of 22.000 genes with Illumina Nextera Exome Enrichment Kit revealed three mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients which encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis. We suggest that an abnormal process of angiogenesis plays a key role in the molecular pathogenesis of BEN. PMID:27442376

  19. Genetic Diversity in Gorkhas: an Autosomal STR Study.

    PubMed

    Preet, Kiran; Malhotra, Seema; Shrivastava, Pankaj; Jain, Toshi; Rawat, Shweta; Varte, L Robert; Singh, Sayar; Singh, Inderjeet; Sarkar, Soma

    2016-01-01

    Genotyping of highly polymorphic autosomal short tandem repeat (STR) markers is a potent tool for elucidating genetic diversity. In the present study, fifteen autosomal STR markers were analyzed in unrelated healthy male Gorkha individuals (n = 98) serving in the Indian Army by using AmpFlSTR Identifiler Plus PCR Amplification Kit. In total, 138 alleles were observed with corresponding allele frequencies ranging from 0.005 to 0.469. The studied loci were in Hardy-Weinberg Equilibrium (HWE). Heterozygosity ranged from 0.602 to 0.867. The most polymorphic locus was Fibrinogen Alpha (FGA) chain which was also the most discriminating locus as expected. Neighbor Joining (NJ) tree and principal component analysis (PCA) plot clustered the Gorkhas with those of Nepal and other Tibeto-Burman population while lowlander Indian population formed separate cluster substantiating the closeness of the Gorkhas with the Tibeto-Burman linguistic phyla. Furthermore, the dataset of STR markers obtained in the study presents a valuable information source of STR DNA profiles from personnel for usage in disaster victim identification in military exigencies and adds to the Indian database of military soldiers and military hospital repository. PMID:27580933

  20. Genetic Diversity in Gorkhas: an Autosomal STR Study

    PubMed Central

    Preet, Kiran; Malhotra, Seema; Shrivastava, Pankaj; Jain, Toshi; Rawat, Shweta; Varte, L. Robert; Singh, Sayar; Singh, Inderjeet; Sarkar, Soma

    2016-01-01

    Genotyping of highly polymorphic autosomal short tandem repeat (STR) markers is a potent tool for elucidating genetic diversity. In the present study, fifteen autosomal STR markers were analyzed in unrelated healthy male Gorkha individuals (n = 98) serving in the Indian Army by using AmpFlSTR Identifiler Plus PCR Amplification Kit. In total, 138 alleles were observed with corresponding allele frequencies ranging from 0.005 to 0.469. The studied loci were in Hardy-Weinberg Equilibrium (HWE). Heterozygosity ranged from 0.602 to 0.867. The most polymorphic locus was Fibrinogen Alpha (FGA) chain which was also the most discriminating locus as expected. Neighbor Joining (NJ) tree and principal component analysis (PCA) plot clustered the Gorkhas with those of Nepal and other Tibeto-Burman population while lowlander Indian population formed separate cluster substantiating the closeness of the Gorkhas with the Tibeto-Burman linguistic phyla. Furthermore, the dataset of STR markers obtained in the study presents a valuable information source of STR DNA profiles from personnel for usage in disaster victim identification in military exigencies and adds to the Indian database of military soldiers and military hospital repository. PMID:27580933

  1. Genetic analysis of tolerance to infections using random regressions: a simulation study.

    PubMed

    Kause, Antti

    2011-08-01

    Tolerance to infections is the ability of a host to limit the impact of a given pathogen burden on host performance. This simulation study demonstrated the merit of using random regressions to estimate unbiased genetic variances for tolerance slope and its genetic correlations with other traits, which could not be obtained using the previously implemented statistical methods. Genetic variance in tolerance was estimated as genetic variance in regression slopes of host performance along an increasing pathogen burden level. Random regressions combined with covariance functions allowed genetic variance for host performance to be estimated at any point along the pathogen burden trajectory, providing a novel means to analyse infection-induced changes in genetic variation of host performance. Yet, the results implied that decreasing family size as well as a non-zero environmental or genetic correlation between initial host performance before infection and pathogen burden led to biased estimates for tolerance genetic variance. In both cases, genetic correlation between tolerance slope and host performance in a pathogen-free environment became artificially negative, implying a genetic trade-off when it did not exist. Moreover, recording a normally distributed pathogen burden as a threshold trait is not a realistic way of obtaining unbiased estimates for tolerance genetic variance. The results show that random regressions are suitable for the genetic analysis of tolerance, given suitable data structure collected either under field or experimental conditions. PMID:21767462

  2. From genetic studies to precision medicine in alcohol dependence.

    PubMed

    Sun, Yan; Zhang, Yan; Wang, Fan; Sun, Yankun; Shi, Jie; Lu, Lin

    2016-04-01

    Genetic factors contribute to more than 50% of the variation in the vulnerability to alcohol dependence (AD). Although significant advances have been made in medications for AD, these medications do not work for all people. Precise tailoring of medicinal strategies for individual alcoholic patients is needed to achieve optimal outcomes. This review updates the most promising information on genetic variants in AD, which may be useful for improving diagnostic, therapeutic, and monitoring strategies. We describe genetic candidates of various neurotransmitter and enzyme systems. In addition to biological and allelic associations with AD, genetic effects on AD-related phenotypes and treatment responses have also been described. Gene-gene and gene-environment interactions have been considered. Potential applications of genomewide and epigenetic approaches for identifying genetic biomarkers of AD have been discussed. Overall, the application of genetic findings in precision medicine for AD will likely involve an integrated approach that distinguishes effect sizes of specific genetic predictors with regard to sex, pharmacotherapy, ethnicity, and AD-related aspects and considers gene-gene and gene-environment interactions. Our work may pave the way toward more precise treatment for AD that could ultimately improve clinical management and interventions. PMID:26580132

  3. Genetic study of skin thickness and its association with postweaning growth in Nellore cattle: estimation of the genetic parameters.

    PubMed

    Maiorano, A M; Oliveira, M C S; Cyrillo, J N S G; Albuquerque, L G; Curi, R A; Silva, J A Iiv

    2016-01-01

    The objective of the present study was to estimate genetic parameters for skin thickness (ST) and postweaning weight gain (PWG550) in Nellore cattle. Records were obtained from 152,392 Nellore animals born between 2001 and 2011. ST was measured in the posterior region of the animal's scapula with a millimeter caliper. The animals were assigned to different contemporary groups, formed on the basis of farm, year, sex, feeding regimen at weaning, date of weaning, feeding regimen at 450 days of age, and date of weighing at 450 days of age. The genetic parameters were estimated by Bayesian analysis using the GIBBS1F90 program. The mean ST and PWG550 observed were 7.71 ± 2.04 mm and 115.95 ± 36.17 kg, respectively. The posterior mean estimates of heritability (h2) were 0.12 ± 0.02 and 0.29 ± 0.02 for ST and PWG550, respectively. The posterior mean estimates of the phenotypic, genetic, and environmental correlations between the traits were 0.16 ± 0.0, 0.17 ± 0.02, and 0.17 ± 0.09, respectively. The traits ST and PWG550 showed sufficient additive genetic variance to be used as selection criteria in breeding programs. The low genetic correlation obtained indicates that genes favoring the expression of one trait may not influence the other. Consequently, a selection favoring ST would be less efficient in increasing PWG550. PMID:26909980

  4. Genetic systems for studying obligate intracellular pathogens: an update.

    PubMed

    Wood, David O; Wood, Raphael R; Tucker, Aimee M

    2014-02-01

    Rapid advancements in the genetic manipulation of obligate intracellular bacterial pathogens have been made over the past two years. In this paper we attempt to summarize the work published since 2011 that documents these exciting accomplishments. Although each genus comprising this diverse group of pathogens poses unique problems, requiring modifications of established techniques and the introduction of new tools, all appear amenable to genetic analysis. Significantly, the field is moving forward from a focus on the identification and development of genetic techniques to their application in addressing crucial questions related to mechanisms of bacterial pathogenicity and the requirements of obligate intracellular growth. PMID:24581687

  5. From genetic associations to functional studies in multiple sclerosis.

    PubMed

    Bos, S D; Berge, T; Celius, E G; Harbo, H F

    2016-05-01

    Genetic screens steadily reveal more loci that show robust associations to complex human diseases, including multiple sclerosis (MS). Although some of the identified genetic variants are easily interpreted into a biological function, most of the genetic associations are frequently challenging to interpret. Underlying these difficulties is the fact that chip-based assays typically detect single nucleotide polymorphisms (SNPs) representative of a stretch of DNA containing many genomic variants in linkage disequilibrium. Furthermore, a large proportion of the SNPs with strongest association to MS are located in regions of the DNA that do not directly code for proteins. Here we discuss challenges faced by MS researchers to follow up the large-scale genetic screens that have been published over the past years in search of functional consequences of the identified MS-associated SNPs. We discuss experimental design, tools and methods that may provide the much-needed biological insights in both disease etiology and disease manifestations. PMID:26948534

  6. Genetic transformation: a tool to study protein targeting in diatoms.

    PubMed

    Kroth, Peter G

    2007-01-01

    Diatoms are unicellular photoautotrophic eukaryotes that play an important role in ecology by fixing large amounts of CO2 in the oceans. Because they evolved by secondary endocytobiosis-- a process of uptake of a eukaryotic alga into another eukaryotic cell--they have a rather unusual cell biology and genetic constitution. Because the preparation of organelles is rather difficult as a result of the cytosolic structures, genetic transformation and expression of preproteins fused to green fluorescent protein (GFP) became one of the major tools to analyze subcellular localization of proteins in diatoms. Meanwhile several groups successfully attempted to develop genetic transformation protocols for diatoms. These methods are based on "biolistic" DNA delivery via a particle gun and allow the introduction and expression of foreign genes in the algae. Here a protocol for the genetic transformation of the diatom Phaeodactylum tricornutum is described as well as the subsequent characterization of the transformants. PMID:17951693

  7. "Genetic Engineering" Gains Momentum (Science/Society Case Study).

    ERIC Educational Resources Information Center

    Moore, John W.; Moore, Elizabeth A., Eds.

    1980-01-01

    Reviews the benefits and hazards of genetic engineering, or "recombinant-DNA" research. Recent federal safety rules issued by NIH which ease the strict prohibitions on recombinant-DNA research are explained. (CS)

  8. Genetic and environmental influences on antisocial behavior: a meta-analysis of twin and adoption studies.

    PubMed

    Rhee, Soo Hyun; Waldman, Irwin D

    2002-05-01

    A meta-analysis of 51 twin and adoption studies was conducted to estimate the magnitude of genetic and environmental influences on antisocial behavior. The best fitting model included moderate proportions of variance due to additive genetic influences (.32), nonadditive genetic influences (.09), shared environmental influences (.16), and nonshared environmental influences (.43). The magnitude of familial influences (i.e., both genetic and shared environmental influences) was lower in parent-offspring adoption studies than in both twin studies and sibling adoption studies. Operationalization, assessment method, zygosity determination method, and age were significant moderators of the magnitude of genetic and environmental influences on antisocial behavior, but there were no significant differences in the magnitude of genetic and environmental influences for males and females. PMID:12002699

  9. Genetic and environmental influences on impulsivity: A meta-analysis of twin, family and adoption studies

    PubMed Central

    Bezdjian, Serena; Baker, Laura A.; Tuvblad, Catherine

    2011-01-01

    A meta-analysis of twin, family and adoption studies was conducted to estimate the magnitude of genetic and environmental influences on impulsivity. The best fitting model for 41 key studies (58 independent samples from 14 month old infants to adults; N = 27,147) included equal proportions of variance due to genetic (0.50) and non-shared environmental (0.50) influences, with genetic effects being both additive (0.38) and non-additive (0.12). Shared environmental effects were unimportant in explaining individual differences in impulsivity. Age, sex, and study design (twin vs. adoption) were all significant moderators of the magnitude of genetic and environmental influences on impulsivity. The relative contribution of genetic effects (broad sense heritability) and unique environmental effects were also found to be important throughout development from childhood to adulthood. Total genetic effects were found to be important for all ages, but appeared to be strongest in children. Analyses also demonstrated that genetic effects appeared to be stronger in males than in females. Method of assessment (laboratory tasks vs. questionnaires), however, was not a significant moderator of the genetic and environmental influences on impulsivity. These results provide a structured synthesis of existing behavior genetic studies on impulsivity by providing a clearer understanding of the relative genetic and environmental contributions in impulsive traits through various stages of development. PMID:21889436

  10. Dissociable Genetic Contributions to Error Processing: A Multimodal Neuroimaging Study

    PubMed Central

    Agam, Yigal; Vangel, Mark; Roffman, Joshua L.; Gallagher, Patience J.; Chaponis, Jonathan; Haddad, Stephen; Goff, Donald C.; Greenberg, Jennifer L.; Wilhelm, Sabine; Smoller, Jordan W.; Manoach, Dara S.

    2014-01-01

    Background Neuroimaging studies reliably identify two markers of error commission: the error-related negativity (ERN), an event-related potential, and functional MRI activation of the dorsal anterior cingulate cortex (dACC). While theorized to reflect the same neural process, recent evidence suggests that the ERN arises from the posterior cingulate cortex not the dACC. Here, we tested the hypothesis that these two error markers also have different genetic mediation. Methods We measured both error markers in a sample of 92 comprised of healthy individuals and those with diagnoses of schizophrenia, obsessive-compulsive disorder or autism spectrum disorder. Participants performed the same task during functional MRI and simultaneously acquired magnetoencephalography and electroencephalography. We examined the mediation of the error markers by two single nucleotide polymorphisms: dopamine D4 receptor (DRD4) C-521T (rs1800955), which has been associated with the ERN and methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133), which has been associated with error-related dACC activation. We then compared the effects of each polymorphism on the two error markers modeled as a bivariate response. Results We replicated our previous report of a posterior cingulate source of the ERN in healthy participants in the schizophrenia and obsessive-compulsive disorder groups. The effect of genotype on error markers did not differ significantly by diagnostic group. DRD4 C-521T allele load had a significant linear effect on ERN amplitude, but not on dACC activation, and this difference was significant. MTHFR C677T allele load had a significant linear effect on dACC activation but not ERN amplitude, but the difference in effects on the two error markers was not significant. Conclusions DRD4 C-521T, but not MTHFR C677T, had a significant differential effect on two canonical error markers. Together with the anatomical dissociation between the ERN and error-related dACC activation

  11. Holt-Oram syndrome: a clinical genetic study.

    PubMed Central

    Newbury-Ecob, R A; Leanage, R; Raeburn, J A; Young, I D

    1996-01-01

    A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal defects affected the upper limbs exclusively and were bilateral and asymmetrical. They ranged from minor signs such as clinodactyly, limited supination, and sloping shoulders to severe reduction deformities of the upper arm (4.5%). The radial ray was predominantly affected than the right. All affected cases showed evidence of upper limb involvement. Cardiac defects were seen in 95% of familial cases and included both atrial septal defect (ASD, 34%) and ventricular septal defect (VSD, 25%); 39% had only ECG changes. Cardiac involvement ranged from asymptomatic conduction disturbances to multiple structural defects requiring surgery in infancy. Sudden death could be caused by heart block. Inheritance was autosomal dominant with 100% penetrance and no evidence of reduced fitness. Increasing severity occurred in succeeding generations consistent with anticipation. Images PMID:8730285

  12. Genetic Models for the Study of Luteinizing Hormone Receptor Function

    PubMed Central

    Narayan, Prema

    2015-01-01

    The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is essential for fertility in men and women. LHCGR binds luteinizing hormone (LH) as well as the highly homologous chorionic gonadotropin. Signaling from LHCGR is required for steroidogenesis and gametogenesis in males and females and for sexual differentiation in the male. The importance of LHCGR in reproductive physiology is underscored by the large number of naturally occurring inactivating and activating mutations in the receptor that result in reproductive disorders. Consequently, several genetically modified mouse models have been developed for the study of LHCGR function. They include targeted deletion of LH and LHCGR that mimic inactivating mutations in hormone and receptor, expression of a constitutively active mutant in LHCGR that mimics activating mutations associated with familial male-limited precocious puberty and transgenic models of LH and hCG overexpression. This review summarizes the salient findings from these models and their utility in understanding the physiological and pathological consequences of loss and gain of function in LHCGR signaling. PMID:26483755

  13. Genetic linkage study of bipolar disorder and the serotonin transporter

    SciTech Connect

    Kelsoe, J.R.; Morison, M.; Mroczkowski-Parker, Z.; Bergesch, P.; Rapaport, M.H.; Mirow, A.L.

    1996-04-09

    The serotonin transporter (HTT) is an important candidate gene for the genetic transmission of bipolar disorder. It is the site of action of many antidepressants, and plays a key role in the regulation of serotonin neurotransmission. Many studies of affectively ill patients have found abnormalities in serotonin metabolism, and dysregulation of the transporter itself. The human serotonin transporter has been recently cloned and mapped to chromosome 17. We have identified a PstI RFLP at the HTT locus, and here report our examination of this polymorphism for possible linkage to bipolar disorder. Eighteen families were examined from three populations: the Old Order Amish, Iceland, and the general North American population. In addition to HTT, three other microsatellite markers were examined, which span an interval known to contain HTT. Linkage analyses were conducted under both dominant and recessive models, as well as both narrow (bipolar only) and broad (bipolar + recurrent unipolar) diagnostic models. Linkage could be excluded to HTT under all models examined. Linkage to the interval spanned by the microsatellites was similarly excluded under the dominant models. In two individual families, maximum lod scores of 1.02 and 0.84 were obtained at D17S798 and HTT, respectively. However, these data overall do not support the presence of a susceptibility locus for bipolar disorder near the serotonin transporter. 20 refs., 2 tabs.

  14. Phenotype-Based Genetic Association Studies (PGAS)—Towards Understanding the Contribution of Common Genetic Variants to Schizophrenia Subphenotypes

    PubMed Central

    Ehrenreich, Hannelore; Nave, Klaus-Armin

    2014-01-01

    Neuropsychiatric diseases ranging from schizophrenia to affective disorders and autism are heritable, highly complex and heterogeneous conditions, diagnosed purely clinically, with no supporting biomarkers or neuroimaging criteria. Relying on these “umbrella diagnoses”, genetic analyses, including genome-wide association studies (GWAS), were undertaken but failed to provide insight into the biological basis of these disorders. “Risk genotypes” of unknown significance with low odds ratios of mostly <1.2 were extracted and confirmed by including ever increasing numbers of individuals in large multicenter efforts. Facing these results, we have to hypothesize that thousands of genetic constellations in highly variable combinations with environmental co-factors can cause the individual disorder in the sense of a final common pathway. This would explain why the prevalence of mental diseases is so high and why mutations, including copy number variations, with a higher effect size than SNPs, constitute only a small part of variance. Elucidating the contribution of normal genetic variation to (disease) phenotypes, and so re-defining disease entities, will be extremely labor-intense but crucial. We have termed this approach PGAS (“phenotype-based genetic association studies”). Ultimate goal is the definition of biological subgroups of mental diseases. For that purpose, the GRAS (Göttingen Research Association for Schizophrenia) data collection was initiated in 2005. With >3000 phenotypical data points per patient, it comprises the world-wide largest currently available schizophrenia database (N > 1200), combining genome-wide SNP coverage and deep phenotyping under highly standardized conditions. First PGAS results on normal genetic variants, relevant for e.g., cognition or catatonia, demonstrated proof-of-concept. Presently, an autistic subphenotype of schizophrenia is being defined where an unfortunate accumulation of normal genotypes, so-called pro

  15. Substantial genetic link between IQ and working memory: implications for molecular genetic studies on schizophrenia. the European twin study of schizophrenia (EUTwinsS).

    PubMed

    Goldberg, Ximena; Alemany, Silvia; Rosa, Araceli; Picchioni, Marco; Nenadic, Igor; Owens, Sheena F; Rijsdijk, Fruhling; Rebollo, Irene; Sauer, Heinrich; Murray, Robin M; Fañanás, Lourdes; Toulopoulou, Timothea

    2013-06-01

    While evidence is accumulating to support specific neurocognitive deficits as putative endophenotypes for schizophrenia, the heritability of these deficits in healthy subjects and whether they share common genetic influences, is not well established. In the present study, 529 healthy adult twins from two centers within the European Twin Study Network on Schizophrenia (EUTwinsS) were assessed on two domains that are consistently found to be particularly compromised in schizophrenia. Specifically, Intellectual Quotient Score (IQ) and the Letter-Number Sequencing Test (LNS), a measure of working memory, were measured in all twins. Latent variable components were explored through structural equation modeling, and common genetic underpinnings were examined using bivariate analyses. Results showed that the phenotypic correlation between IQ and working memory was almost entirely attributed to shared genetic variance (95.5%). We discuss the potential use of a combined measure of IQ and working memory to improve the power of molecular studies in detecting the genetic mechanisms underlying schizophrenia. PMID:23650229

  16. Genetics of FTLD: overview and what else we can expect from genetic studies.

    PubMed

    Pottier, Cyril; Ravenscroft, Thomas A; Sanchez-Contreras, Monica; Rademakers, Rosa

    2016-08-01

    Frontotemporal lobar degeneration (FTLD) comprises a highly heterogeneous group of disorders clinically associated with behavioral and personality changes, language impairment, and deficits in executive functioning, and pathologically associated with degeneration of frontal and temporal lobes. Some patients present with motor symptoms including amyotrophic lateral sclerosis. Genetic research over the past two decades in FTLD families led to the identification of three common FTLD genes (microtubule-associated protein tau, progranulin, and chromosome 9 open reading frame 72) and a small number of rare FTLD genes, explaining the disease in almost all autosomal dominant FTLD families but only a minority of apparently sporadic patients or patients in whom the family history is less clear. Identification of additional FTLD (risk) genes is therefore highly anticipated, especially with the emerging use of next-generation sequencing. Common variants in the transmembrane protein 106 B were identified as a genetic risk factor of FTLD and disease modifier in patients with known mutations. This review summarizes for each FTLD gene what we know about the type and frequency of mutations, their associated clinical and pathological features, and potential disease mechanisms. We also provide an overview of emerging disease pathways encompassing multiple FTLD genes. We further discuss how FTLD specific issues, such as disease heterogeneity, the presence of an unclear family history and the possible role of an oligogenic basis of FTLD, can pose challenges for future FTLD gene identification and risk assessment of specific variants. Finally, we highlight emerging clinical, genetic, and translational research opportunities that lie ahead. Genetic research led to the identification of three common FTLD genes with rare variants (MAPT, GRN, and C9orf72) and a small number of rare genes. Efforts are now ongoing, which aimed at the identification of rare variants with high risk and/or low

  17. Contrasting genetic architectures in different mouse reference populations used for studying complex traits

    PubMed Central

    Buchner, David A.; Nadeau, Joseph H.

    2015-01-01

    Quantitative trait loci (QTLs) are being used to study genetic networks, protein functions, and systems properties that underlie phenotypic variation and disease risk in humans, model organisms, agricultural species, and natural populations. The challenges are many, beginning with the seemingly simple tasks of mapping QTLs and identifying their underlying genetic determinants. Various specialized resources have been developed to study complex traits in many model organisms. In the mouse, remarkably different pictures of genetic architectures are emerging. Chromosome Substitution Strains (CSSs) reveal many QTLs, large phenotypic effects, pervasive epistasis, and readily identified genetic variants. In contrast, other resources as well as genome-wide association studies (GWAS) in humans and other species reveal genetic architectures dominated with a relatively modest number of QTLs that have small individual and combined phenotypic effects. These contrasting architectures are the result of intrinsic differences in the study designs underlying different resources. The CSSs examine context-dependent phenotypic effects independently among individual genotypes, whereas with GWAS and other mouse resources, the average effect of each QTL is assessed among many individuals with heterogeneous genetic backgrounds. We argue that variation of genetic architectures among individuals is as important as population averages. Each of these important resources has particular merits and specific applications for these individual and population perspectives. Collectively, these resources together with high-throughput genotyping, sequencing and genetic engineering technologies, and information repositories highlight the power of the mouse for genetic, functional, and systems studies of complex traits and disease models. PMID:25953951

  18. Studies on Monitoring and Tracking Genetic Resources: An Executive Summary

    PubMed Central

    Garrity, George M.; Thompson, Lorraine M.; Ussery, David W.; Paskin, Norman; Baker, Dwight; Desmeth, Philippe; Schindel, D.E.; Ong, P.S.

    2009-01-01

    The principles underlying fair and equitable sharing of benefits derived from the utilization of genetic resources are set out in Article 15 of the UN Convention on Biological Diversity, which stipulate that access to genetic resources is subject to the prior informed consent of the country where such resources are located and to mutually agreed terms regarding the sharing of benefits that could be derived from such access. One issue of particular concern for provider countries is how to monitor and track genetic resources once they have left the provider country and enter into use in a variety of forms. This report was commissioned to provide a detailed review of advances in DNA sequencing technologies, as those methods apply to identification of genetic resources, and the use of globally unique persistent identifiers for persistently linking to data and other forms of digital documentation that is linked to individual genetic resources. While the report was written for an audience with a mixture of technical, legal, and policy backgrounds it is relevant to the genomics community as it is an example of downstream application of genomics information. PMID:21304641

  19. Labor, nationalism, and imperialism in eastern Arabia: Britain, the Shaikhs, and the Gulf oil workers in Bahrain, Kuwait and Qatar, 1932-1956

    SciTech Connect

    Saleh, H.M.A.

    1991-01-01

    This study examines the lack of a noticeable indigenous labor movement in the contemporary Gulf Arab countries of Bahrain, Kuwait and Qatar; it focuses on the emergence, after the discovery of oil, of an industrial Gulf labor force, and on the evolution of the British policy towards oil and Gulf oil workers. The period examined begins with the discovery of oil in Bahrain in 1932 (the first such discovery on the Arab side of the Gulf), and ends with the Suez Crisis of 1956. The latter is a watershed event in Gulf history. It is argued that the Suez Crisis was in large part responsible for the long-term defeat of the indigenous labor movement in the Gulf. Attention is given to the parts played by the British Government of India, the Foreign Office, the local Shaikhs, the Gulf nationalists, and by the workers themselves. Policies towards workers passed through two different periods. In the first, 1932-1945, the Government of India had no direct interest in the Gulf labor situation; in the second, 1946-1956, the Foreign Office took increased interest in the welfare of local oil workers, primarily because of the importance of oil to reconstruction of the British economy after the war. However, the Suez Crisis in 1956 convinced the British to withdraw their support for the workers.

  20. Informed consent, participation in, and withdrawal from a population based cohort study involving genetic analysis

    PubMed Central

    Matsui, K; Kita, Y; Ueshima, H

    2005-01-01

    Design: Descriptive analyses. Setting and participants: The study evaluated two non-genetic subcohorts comprising 3166 people attending for a health checkup during 2002, and two genetic subcohorts comprising 2195 people who underwent a checkup during 2003. Main outcome measurements: Analysis endpoints were differences in participation rates between the non-genetic and genetic subcohorts, differences between providing non-extensive and extensive preliminary information, and changes in participation status between baseline and at 6 months. Results: Participation rates in the genetic subcohorts were 4·7–9·3% lower than those in the non-genetic subcohorts. The odds ratios (OR) of participation in genetic research were between 0·60 and 0·77, and the OR for withdrawal from the research was over 7·70; providing preliminary extensive information about genetic research reduced the withdrawal risks (OR 0·15 for all dependent variables) but worsened participation rates (OR 0·63–0·74). Conclusions: The general population responded sceptically towards genetic research. It is crucial that genetic researchers utilise an informative and educational consent process worthy of public trust. PMID:15994356

  1. Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases

    PubMed Central

    Amos, Christopher I.; Bafna, Vineet; Hauser, Elizabeth R.; Hernandez, Ryan D.; Li, Chun; Liberles, David A.; McAllister, Kimberly; Moore, Jason H.; Paltoo, Dina N.; Papanicolaou, George J.; Peng, Bo; Ritchie, Marylyn D.; Rosenfeld, Gabriel; Witte, John S.

    2014-01-01

    Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled “Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases” at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to: (i) identify opportunities, challenges and resource needs for the development and application of genetic simulation models; (ii) improve the integration of tools for modeling and analysis of simulated data; and (iii) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation. PMID:25371374

  2. What Can the Study of Genetics Offer to Educators?

    ERIC Educational Resources Information Center

    Thomas, Michael S. C.; Kovas, Yulia; Meaburn, Emma L.; Tolmie, Andrew

    2015-01-01

    This article explores the potential contribution of modern genetic methods and findings to education. It is familiar to hear that the "gene" for this or that behavior has been discovered, or that certain skills are "highly heritable." Can this help educators? To explore this question, we describe the methods used to relate…

  3. Genetic and Environmental Etiologies of Reading Disability: A Twin Study.

    ERIC Educational Resources Information Center

    LaBuda, Michele C.; DeFries, J. C.

    1988-01-01

    Data analysis of 134 twin pairs from the Colorado Reading Project found that approximately 40 percent of the deficit observed in disabled readers is because of genetic factors, 35 percent because of environmental influences shared by twin pairs, and 25 percent because of environmental factors unique to the individual and/or error variance.…

  4. Genetic Effects on Human Behavior: Recent Family Studies.

    ERIC Educational Resources Information Center

    Scarr, Sandra

    Although there continues to be controversy about the magnitude of genetic and environmental effects on human behavior, it is generally agreed by various scientific fields that individual differences in brain function and behavior must follow the same laws of variability as other human characteristics. Whether or not racial and ethnic group…

  5. Obesity, hypertension and genetic variation in the TIGER Study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Obesity and hypertension are multifactoral conditions in which the onset and severity of the conditions are influenced by the interplay of genetic and environmental factors. We hypothesize that multiple genes and environmental factors account for a significant amount of variation in BMI and blood pr...

  6. Ninos Desaparecidos: A Case Study about Genetics and Human Rights.

    ERIC Educational Resources Information Center

    Chamany, Katayoun

    2001-01-01

    Provides information on the experiences of 50 children displaced during Argentina's "dirty war" of the 1970s who underwent DNA and protein analysis and subsequently were reunited with their biological families. Considers not only genetic evidence but the moral, political, and emotional dimensions of these children's stories as well. (Contains 19…

  7. Genetic determinants of bone mass in adults. A twin study.

    PubMed Central

    Pocock, N A; Eisman, J A; Hopper, J L; Yeates, M G; Sambrook, P N; Eberl, S

    1987-01-01

    The relative importance of genetic factors in determining bone mass in different parts of the skeleton is poorly understood. Lumbar spine and proximal femur bone mineral density and forearm bone mineral content were measured by photon absorptiometry in 38 monozygotic and 27 dizygotic twin pairs. Bone mineral density was significantly more highly correlated in monozygotic than in dizygotic twins for the spine and proximal femur and in the forearm of premenopausal twin pairs, which is consistent with significant genetic contributions to bone mass at all these sites. The lesser genetic contribution to proximal femur and distal forearm bone mass compared with the spine suggests that environmental factors are of greater importance in the aetiology of osteopenia of the hip and wrist. This is the first demonstration of a genetic contribution to bone mass of the spine and proximal femur in adults and confirms similar findings of the forearm. Furthermore, bivariate analysis suggested that a single gene or set of genes determines bone mass at all sites. PMID:3624485

  8. Genetic Studies of Stuttering in a Founder Population

    ERIC Educational Resources Information Center

    Wittke-Thompson, Jacqueline K.; Ambrose, Nicoline; Yairi, Ehud; Roe, Cheryl; Cook, Edwin H.; Ober, Carole; Cox, Nancy J.

    2007-01-01

    Genome-wide linkage and association analyses were conducted to identify genetic determinants of stuttering in a founder population in which 48 individuals affected with stuttering are connected in a single 232-person genealogy. A novel approach was devised to account for all necessary relationships to enable multipoint linkage analysis. Regions…

  9. Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations.

    PubMed

    Mathews, Carol A; Reus, Victor I; Bejarano, Julio; Escamilla, Michael A; Fournier, Eduardo; Herrera, Luis Diego; Lowe, Thomas L; McInnes, L Alison; Molina, Julio; Ophoff, Roel A; Raventos, Henrietta; Sandkuijl, Lodewijk A; Service, Susan K; Spesny, Mitzi; León, Pedro E; Freimer, Nelson B

    2004-03-01

    The importance of genetics in understanding the etiology of mental illness has become increasingly clear in recent years, as more evidence has mounted that almost all neuropsychiatric disorders have a genetic component. It has also become clear, however, that these disorders are etiologically complex, and multiple genetic and environmental factors contribute to their makeup. So far, traditional linkage mapping studies have not definitively identified specific disease genes for neuropsychiatric disorders, although some potential candidates have been identified via these methods (e.g. the dysbindin gene in schizophrenia; Straub et al., 2002; Schwab et al., 2003). For this reason, alternative approaches are being attempted, including studies in genetically isolated populations. Because isolated populations have a high degree of genetic homogeneity, their use may simplify the process of identifying disease genes in disorders where multiple genes may play a role. Several areas of Latin America contain genetically isolated populations that are well suited for the study of neuropsychiatric disorders. Genetic studies of several major psychiatric illnesses, including bipolar disorder, major depression, schizophrenia, Tourette Syndrome, alcohol dependence, attention deficit hyperactivity disorder, and obsessive-compulsive disorder, are currently underway in these regions. In this paper we highlight the studies currently being conducted by our groups in the Central Valley of Costa Rica to illustrate the potential advantages of this population for genetic studies. PMID:15091311

  10. Genetic linkage studies in autosomal recessive retinitis pigmentosa

    SciTech Connect

    Mansfield, D.C.; Teague, P.W.; Barber, A.

    1994-09-01

    Autosomal recessive retinitis pigmentosa (arRP) is a severe retinal dystrophy characterized by night blindness, progressive constriction of the visual fields and loss of central vision in the fourth or fifth decades. The frequency of this form of retinitis pigmentosa (RP) varies in different populations. Mutations within the rhodopsin, cyclic GMP phosphodiesterase-{beta} subunit and cGMP-gated channel genes have been reported in some arRP families. The genetic loci responsible for the majority of cases have yet to be identified. Genetic heterogeneity is likely to be extensive. In order to minimize the amount of genetic heterogenity, a set of arRP families was ascertained within the South-Central Sardinian population, in which 81% of families with a known mode of inheritance show an autosomal recessive form of RP. The Sardinian population is an ethnic {open_quotes}outlier{close_quotes}, having remained relatively isolated from mainland and other cultures. Genetic linkage data has been obtained in a set of 11 Sardinian arRP kindreds containing 26 affected members. Under the assumption of genetic homogeneity, no evidence of linkage was found in the arRP kindreds using 195 markers, which excluded 62% of the genome (Z<-2). Positive lod scores were obtained with D14S80 which showed no recombination in a subset of 5 families. Heterogeneity testing using D14S80 and arRP showed no significant evidence of heterogeneity (p=0.18) but evidence of linkage ({chi}{sup 2}=3.64, p=0.028). We are currently screening the neural retina-specific leucine zipper gene (NRL) in 14q11 for mutations as a candidate locus.

  11. Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations.

    PubMed

    Pont-Sunyer, Claustre; Bressman, Susan; Raymond, Deborah; Glickman, Amanda; Tolosa, Eduardo; Saunders-Pullman, Rachel

    2015-06-01

    With the advent of large genetic studies examining both symptomatic and asymptomatic individuals, whether and how to disclose genetic research results have become pressing questions. The need is particularly acute in the case of LRRK2 research: Movement centers worldwide are recruiting cohorts of individuals with Parkinson's disease (PD) and their family members, including asymptomatic carriers. Clinical features and treatment are complex and evolving, and disclosure policies vary at different sites and have been modified during the course of some studies. We present the major ethical principles of autonomy, beneficence, nonmaleficence, and honesty that should guide disclosure policies in studies of families with LRRK2 mutations. We make recommendations regarding genetic counseling, policies of either active or passive disclosure, responsibilities of funders to budget for genetic counseling, clinical genetic testing where locally required for disclosure, and aspects of study design to avoid mandatory disclosure whenever feasible. © 2015 International Parkinson and Movement Disorder Society. PMID:25952684

  12. Disclosure of Research Results in Genetic Studies of Parkinson Disease Due to LRRK2 Mutations

    PubMed Central

    Bressman, Susan; Raymond, Deborah; Glickman, Amanda; Tolosa, Eduardo

    2015-01-01

    With the advent of large genetic studies examining both symptomatic and asymptomatic individuals, whether and how to disclose genetic research results have become pressing questions. The need is particularly acute in the case of LRRK2 research: Movement centers worldwide are recruiting cohorts of individuals with PD and their family members, including asymptomatic carriers, clinical features and treatment are complex and evolving, and disclosure policies vary at different sites and have been modified during the course of some studies. Herein, we present the major ethical principles of autonomy, beneficence, non-maleficence, and honesty that should guide disclosure policies in studies of families with LRRK2 mutations. We make recommendations regarding: genetic counseling, policies of either active or passive disclosure, responsibilities of funders to budget for genetic counseling, clinical genetic testing where locally required for disclosure, and aspects of study design to avoid mandatory disclosure whenever feasible. PMID:25952684

  13. Genetic studies of freshwater turtle and tortoises: a review of the past 70 years

    USGS Publications Warehouse

    FitzSimmons, Nancy N.; Hart, Kristen M.

    2007-01-01

    Powerful molecular techniques have been developed over many decades for resolving genetic relationships, population genetic structure, patterns of gene flow, mating systems, and the amount of genetic diversity in animals. Genetic studies of turtles were among the earliest and the rapid application of new genetic tools and analytical techniques is still apparent in the literature on turtles. At present, of the 198 freshwater turtles and tortoises that are listed as not extinct by the IUCN Red List, 69 species worldwide are listed as endangered or critically endangered, and an additional 56 species are listed as vulnerable. Of the ca. 300 species of the freshwater turtles and tortoises in the world, ca. 42% are considered to be facing a high risk extinction, and there is a need to focus intense conservation attention on these species. This includes a need to (i) assess our current state of knowledge regarding the application of genetics to studies of freshwater turtles and tortoises and (ii) determine future research directions. Here, we review all available published studies for the past 70 years that were written in English and used genetic markers (e.g. karyotypes, allozymes, DNA loci) to better understand the biology of freshwater turtles and tortoises. We review the types of studies conducted in relation to the species studied and quantify the countries where the studies were performed. We rack the changing use of different genetic markers through time and report on studies focused on aspects of molecular evolution within turtle genomes. We address the usefulness of particular genetic markers to answer phylogenetic questions and present data comparing population genetic structure and mating systems across species. We draw specific attention to whether authors have considered issues to turtle conservation in their research or provided new insights that have been translated into recommendations for conservation management.

  14. Perceived Competence and Self-Worth during Adolescence: A Longitudinal Behavioral Genetic Study.

    ERIC Educational Resources Information Center

    McGuire, Shirley; Manke, Beth; Saudino, Kimberly J.; Reiss, David; Hetherington, E. Mavis; Plomin, Robert

    1999-01-01

    This behavioral genetic study examined perceived competence and self-worth in same-sex twins, siblings, and stepsiblings 10 to 18 years old, and again 3 years later. Findings at second assessment showed six of seven subscales heritable. Genetic contributions to stability were found for perceived scholastic competence, athletic competence, physical…

  15. Examining Genetic and Environmental Effects on Social Aggression: A Study of 6-Year-Old Twins

    ERIC Educational Resources Information Center

    Brendgen, Mara; Dionne, Ginette; Girard, Alain; Boivin, Michel; Vitaro, Frank; Prusse, Daniel

    2005-01-01

    Using a genetic design of 234 six-year-old twins, this study examined (a) the contribution of genes and environment to social versus physical aggression, and (b) whether the correlation between social and physical aggression can be explained by similar genetic or environmental factors or by a directional link between the phenotypes. For social…

  16. Genetic thinking in the study of social relationships: Five points of entry

    PubMed Central

    Reiss, David

    2014-01-01

    For nearly a generation, researchers studying human behavioral development have combined genetically informed research designs with careful measures of social relationships: parenting, sibling relationships, peer relationships, marital processes, social class stratifications and patterns of social engagement in the elderly. In what way have these genetically informed studies altered the construction and testing of social theories of human development? We consider five points where genetic thinking is taking hold. First, genetic findings suggest an alternative scenario for explaining social data. Associations between measures of the social environment and human development may be due to genes that influence both. Second, genetic studies add to other prompts to study the early developmental origins of current social phenomena in mid-life and beyond. Third, genetic analyses promise to bring to the surface understudied social systems, such as sibling relationships, that have an impact on human development independent of genotype. Fourth, genetic analyses anchor in neurobiology individual differences in resilience and sensitivity to both adverse and favorable social environments. Finally, genetic analyses increase the utility of laboratory simulations of human social processes and of animal models. PMID:25419225

  17. Exposing college students to exercise: the training interventions and genetics of exercise response (TIGER) study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The Training Interventions and Genetics of Exercise Response (TIGER) study is an exercise program designed to introduce sedentary college students to regular physical activity and to identify genetic factors that influence response to exercise. A multiracial/ethnic cohort (N = 1,567; 39% male), age ...

  18. Are Endophenotypes Based on Measures of Executive Functions Useful for Molecular Genetic Studies of ADHD?

    ERIC Educational Resources Information Center

    Doyle, Alysa E.; Faraone, Stephen V.; Seidman, Larry J.; Willcutt, Erik G.; Nigg, Joel T.; Waldman, Irwin D.; Pennington, Bruce F.; Peart, Joanne; Biederman, Joseph

    2005-01-01

    Background: Behavioral genetic studies provide strong evidence that attention-deficit/hyperactivity disorder (ADHD) has a substantial genetic component. Yet, due to the complexity of the ADHD phenotype, questions remain as to the specific genes that contribute to this condition as well as the pathways from genes to behavior. Endophenotypes, or…

  19. A Genetically Informed Study of Associations between Family Functioning and Child Psychosocial Adjustment

    ERIC Educational Resources Information Center

    Schermerhorn, Alice C.; D'Onofrio, Brian M.; Turkheimer, Eric; Ganiban, Jody M.; Spotts, Erica L.; Lichtenstein, Paul; Reiss, David; Neiderhiser, Jenae M.

    2011-01-01

    Research has documented associations between family functioning and offspring psychosocial adjustment, but questions remain regarding whether these associations are partly due to confounding genetic factors and other environmental factors. The current study used a genetically informed approach, the Children of Twins design, to explore the…

  20. Exposing College Students to Exercise: The Training Interventions and Genetics of Exercise Response (TIGER) Study

    ERIC Educational Resources Information Center

    Sailors, Mary H.; Jackson, Andrew S.; McFarlin, Brian K.; Turpin, Ian; Ellis, Kenneth J.; Foreyt, John P.; Hoelscher, Deanna M.; Bray, Molly S.

    2010-01-01

    Objective: The Training Interventions and Genetics of Exercise Response (TIGER) study is an exercise program designed to introduce sedentary college students to regular physical activity and to identify genetic factors that influence response to exercise. Participants: A multiracial/ethnic cohort (N = 1,567; 39% male), age 18 to 35 years,…

  1. Clusters of Concepts in Molecular Genetics: A Study of Swedish Upper Secondary Science Students' Understanding

    ERIC Educational Resources Information Center

    Gericke, Niklas; Wahlberg, Sara

    2013-01-01

    To understand genetics, students need to be able to explain and draw connections between a large number of concepts. The purpose of the study reported herein was to explore the way upper secondary science students reason about concepts in molecular genetics in order to understand protein synthesis. Data were collected by group interviews. Concept…

  2. Facing Human Capital Challenges of the 21st Century: Education and Labor Market Initiatives in Lebanon, Oman, Qatar, and the United Arab Emirates

    ERIC Educational Resources Information Center

    Gonzalez, Gabriella; Karoly, Lynn A.; Constant, Louay; Salem, Hanine; Goldman, Charles A.

    2008-01-01

    Countries in the Arab region are faced with the challenge of developing their populations' skills and technical knowledge, or human capital, in order to compete in the 21st century global economy. The authors describe the education and labor market initiatives implemented or under way in four countries in the Arab region -- Lebanon, Oman, Qatar,…

  3. Human genetic studies in areas of high natural radiation. VIII. Genetic load not related to radiation.

    PubMed Central

    Freire-Maia, A; Krieger, H

    1975-01-01

    The genetic load disclosed by inbreeding has been analyzed in a multiple regression model for a population involving several localities in the state of Espírito Santo, Brazil. The inbreeding load has been estimated for number of pregnancies, abortions, stillbirths, children born alive, anomalies in general, sex ratio, infant mortality, post-infant mortality, and sterility and infertility of the couple. There was no evidence of either maternal or paternal inbreeding effects on the variables analyzed. The effect of inbreeding of the zygote was significant only for anomalies in general (B = 2.29 +/- 0.45) and infant mortality (B = 3.19 +/- 1.39). The latter result must be accepted with caution because of the many environmental causes affecting infant mortality. The B/A ratio suggested a predominantly mutational load for anomalies in general (B/A = 25), but with respect to infant mortality (B/A = 6), the ratio is regarded as an underestimate because of the environmental contribution to A and therefore not supportive of the segregational interpretation. PMID:803018

  4. [A comparative study on genetic polymorphism and genetic relationship of 13 SNPs in three Chinese populations].

    PubMed

    Wang, Rui-Heng; Liu, Li-Min; Zhao, Jin-Ling

    2009-03-01

    Using the fluorescence labeled capillary electrophoresis of multi-PCR technique, the single nucleotide polymorphism (SNP) typing system of fragment length discrepant allele specific fluorescence labeled multi-PCR technique is established based on the principle of allele-specific PCR. The typing of the 13 SNP loci can be completed simultaneously according to the length of PCR products and the number of product peaks. It appears a single product peak when the SNP is homozygous, and two product peaks with 4 bp differences will appear when it is heterozygous. By using this system, we conducted population census about allele frequencies for 13 autosomal SNP loci in Southern Liaoning Han samples, Mongolian samples in Inner Mongolia and Zhuang samples in Guangxi area, and got the allele frequencies of the 13 SNP loci in the three populations, then preliminarily discussed their genetic relationship by comparing their differences in allelic polymorphism. The results indicate that the allelic distributions of the 13 SNP loci in the three populations are polymorphic, and the difference is significant in some SNP loci (P< or =0.01). The sampling survey shows that the result is consistent with Hardy-Weinberg equilibrium, and Han population in southern Liaoning has relatively closer relationship with Mongolian in Inner Mongolia than with Zhuang population in Guangxi by origin. PMID:19273440

  5. The Double Pedigree: A Method for Studying Culturally and Genetically Inherited Behavior in Tandem

    PubMed Central

    Danchin, Etienne; Pujol, Benoit; Wagner, Richard H.

    2013-01-01

    Transgenerational sources of biological variation have been at the center of evolutionary studies ever since Darwin and Wallace identified natural selection. This is because evolution can only operate on traits whose variation is transmitted, i.e. traits that are heritable. The discovery of genetic inheritance has led to a semantic shift, resulting in the tendency to consider that only genes are inherited across generations. Today, however, concepts of heredity are being broadened again to integrate the accruing evidence of non-genetic inheritance, and many evolutionary biologists are calling for the inclusion of non-genetic inheritance into an inclusive evolutionary synthesis. Here, we focus on social heredity and its role in the inheritance of behavioral traits. We discuss quantitative genetics methods that might allow us to disentangle genetic and non-genetic transmission in natural populations with known pedigrees. We then propose an experimental design based on cross-fostering among animal cultures, environments and families that has the potential to partition inherited phenotypic variation into socially (i.e. culturally) and genetically inherited components. This approach builds towards a new conceptual framework based on the use of an extended version of the animal model of quantitative genetics to integrate genetic and cultural components of behavioral inheritance. PMID:23700404

  6. Genetic and environmental effects on openness to experience, agreeableness, and conscientiousness: an adoption/twin study.

    PubMed

    Bergeman, C S; Chipuer, H M; Plomin, R; Pedersen, N L; McClearn, G E; Nesselroade, J R; Costa, P T; McCrae, R R

    1993-06-01

    Previous research has indicated that extraversion and neuroticism are substantially affected both by genotype and environment. This study assesses genetic and environmental influences on the other three components of the five-factor model of personality: Openness to Experience, Agreeableness, and Conscientiousness. An abbreviated version of the NEO Personality Inventory (NEO-PI) was administered to 82 pairs of identical twins and 171 pairs of fraternal twins reared apart and 132 pairs of identical twins and 167 pairs of fraternal twins reared together. Estimates of genetic and environmental effects for Openness and Conscientiousness were similar to those found in other studies of personality: Genetic influence was substantial and there was little evidence of shared rearing environment. Results for Agreeableness were different: Genetic influence accounted for only 12% of the variance and shared rearing environment accounted for 21% of the variance. Few significant gender or age differences for genetic and environmental parameters were found in model-fitting analyses. PMID:8345444

  7. Genetic causes of intellectual disability in a birth cohort: A population‐based study

    PubMed Central

    Riegel, Mariluce; Segal, Sandra L.; Félix, Têmis M.; Barros, Aluísio J. D.; Santos, Iná S.; Matijasevich, Alicia; Giugliani, Roberto; Black, Maureen

    2015-01-01

    Intellectual disability affects approximately 1–3% of the population and can be caused by genetic and environmental factors. Although many studies have investigated the etiology of intellectual disability in different populations, few studies have been performed in middle‐income countries. The present study estimated the prevalence of genetic causes related to intellectual disability in a cohort of children from a city in south Brazil who were followed from birth. Children who showed poor performance in development and intelligence tests at the ages of 2 and 4 were included. Out of 4,231 liveborns enrolled in the cohort, 214 children fulfilled the inclusion criteria. A diagnosis was established in approximately 90% of the children evaluated. Genetic causes were determined in 31 of the children and 19 cases remained unexplained even after extensive investigation. The overall prevalence of intellectual disability in this cohort due to genetic causes was 0.82%. Because this study was nested in a cohort, there were a large number of variables related to early childhood and the likelihood of information bias was minimized by collecting information with a short recall time. This study was not influenced by selection bias, allowing identification of intellectual disability and estimation of the prevalence of genetic causes in this population, thereby increasing the possibility of providing appropriate management and/or genetic counseling. © 2015 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. PMID:25728503

  8. Parameterization of interatomic potential by genetic algorithms: A case study

    SciTech Connect

    Ghosh, Partha S. Arya, A.; Dey, G. K.; Ranawat, Y. S.

    2015-06-24

    A framework for Genetic Algorithm based methodology is developed to systematically obtain and optimize parameters for interatomic force field functions for MD simulations by fitting to a reference data base. This methodology is applied to the fitting of ThO{sub 2} (CaF{sub 2} prototype) – a representative of ceramic based potential fuel for nuclear applications. The resulting GA optimized parameterization of ThO{sub 2} is able to capture basic structural, mechanical, thermo-physical properties and also describes defect structures within the permissible range.

  9. Association of genetic variants with coronary artery disease and ischemic stroke in a longitudinal population-based genetic epidemiological study

    PubMed Central

    YAMADA, YOSHIJI; MATSUI, KOTA; TAKEUCHI, ICHIRO; FUJIMAKI, TETSUO

    2015-01-01

    Our previous studies identified nine genes and chromosomal region 3q28 as susceptibility loci for myocardial infarction, ischemic stroke or chronic kidney disease by genome-wide or candidate gene association studies. As coronary artery disease (CAD) and ischemic stroke may share genetic architecture, certain genetic variants may confer susceptibility to the two diseases. The present study examined the association of 13 polymorphisms at these 10 loci with the prevalence of CAD or ischemic stroke in community-dwelling individuals, with the aim of identifying genetic variants that confer susceptibility to the two conditions. Study subjects (170 with CAD, 117 with ischemic stroke and 5,718 controls) were recruited to the Inabe Health and Longevity Study, a longitudinal genetic epidemiological study of atherosclerotic, cardiovascular and metabolic diseases. The subjects were recruited from individuals who visited for an annual health checkup and they were followed up each year (mean follow-up period, 5 years). Longitudinal analysis with a generalized estimating equation, and with adjustment for age, gender, body mass index, smoking status, the prevalence of hypertension, diabetes mellitus and dyslipidemia and the serum concentration of creatinine, revealed that rs2074380 (G→A) and rs2074381 (A→G) of the α-kinase 1 (ALPK1) gene and rs8089 (T→G) of the thrombospondin 2 (THBS2) gene were significantly (P<2×10−16) associated with the prevalence of CAD, with the AA genotype of rs2074380 and GG genotypes of rs2074381 and rs8089 being protective against this condition. Similar analysis revealed that rs9846911 (A→G) at chromosome 3q28, rs2074381 of ALPK1, rs8089 of THBS2 and rs6046 (G→A) of the coagulation factor VII gene were significantly (P<2×10−16) associated with the prevalence of ischemic stroke, with the GG genotypes of rs9846911, rs2074381 and rs8089 and the AA genotype of rs6046 being protective against this condition. ALPK1 and THBS2 may thus be

  10. Short communication: a genetic study of mortality in Danish Jersey heifer calves.

    PubMed

    Norberg, E; Pryce, J E; Pedersen, J

    2013-06-01

    The aim of this study was to estimate genetic parameters for mortality of Jersey heifer calves during the first 6 mo after birth, calculate the genetic trend of the trait, and estimate breeding values of widely used Jersey sires. More than 260,000 heifer calves were included in the study. The mortality traits included in the analysis were defined as mortality in 8 different periods from 24h after birth to age 180 d (d 1-14, d 15-30, d 31-60, d 61-90, d 91-120, d 121-150, and d 151-180) and mortality over the entire period. A linear model was used for estimation of genetic parameters, breeding values of sires, and genetic trend. Fixed effects included in the model were herd-year class, month of birth, parity of mother, and whether the calf was sold to another farm in the first 6 mo. Both direct and maternal genetic effects were included in the model; however, the maternal genetic effect was very small and not significant. The mortality rate was highest in the first month after birth (7.8%). Total mortality in the first 180 d was 12.5%. Direct heritabilities of mortality were quite low, ranging from 0.002 to 0.03 on the observable scale and 0.025 to 0.076 on the underlying scale. Maternal heritabilities were even lower. The genetic correlation between mortality from d 1 to 14 and d 1 to 180 was estimated to be 0.88, although by definition, these 2 traits share the same observations for many records. No clear genetic trend existed over the last 20 yr; however, considerable genetic variation exists. The best and the worst sires differed by about 8% in their estimated breeding values of mortality in the first 180 d. Based on the results obtained in this study, genetic selection for reducing calf mortality should be possible. PMID:23587388

  11. Brain fiber architecture, genetics, and intelligence: a high angular resolution diffusion imaging (HARDI) study.

    PubMed

    Chiang, Ming-Chang; Barysheva, Marina; Lee, Agatha D; Madsen, Sarah; Klunder, Andrea D; Toga, Arthur W; Mcmahon, Katie L; de Zubicaray, Greig I; Meredith, Matthew; Wright, Margaret J; Srivastava, Anuj; Balov, Nikolay; Thompson, Paul M

    2008-01-01

    We developed an analysis pipeline enabling population studies of HARDI data, and applied it to map genetic influences on fiber architecture in 90 twin subjects. We applied tensor-driven 3D fluid registration to HARDI, resampling the spherical fiber orientation distribution functions (ODFs) in appropriate Riemannian manifolds, after ODF regularization and sharpening. Fitting structural equation models (SEM) from quantitative genetics, we evaluated genetic influences on the Jensen-Shannon divergence (JSD), a novel measure of fiber spatial coherence, and on the generalized fiber anisotropy (GFA) a measure of fiber integrity. With random-effects regression, we mapped regions where diffusion profiles were highly correlated with subjects' intelligence quotient (IQ). Fiber complexity was predominantly under genetic control, and higher in more highly anisotropic regions; the proportion of genetic versus environmental control varied spatially. Our methods show promise for discovering genes affecting fiber connectivity in the brain. PMID:18979850

  12. Internet solicitation of research subjects for genetic studies

    SciTech Connect

    Biesecker, L.G.; DeRenzo, E.G.

    1995-11-01

    Communication through electronic messages on the Internet has become a rapid and effective method for exchanging ideas and information in many disciplines. The Human Molecular Genetics network Diagnostics and Clinical Research Section (hum-molgen@nic.surfnet.nl) is now serving this function for the field of human molecular genetics. Our attention was drawn to the power and the pitfalls of this information exchange when we read a solicitation for research subjects by a Canadian medical student. The student was initiating a summer research project on an inherited disorder and requested information to determine the frequency of the disorder and to collect blood samples of affected patients. The student also requested samples of stored blood or DNA of affected persons. On other occasions, the hum-mol-gen service has also been used by clinicians to announce the availability of patients with a particular disorder (or their blood samples) who are interested in participating in research projects. Such uses of the Internet can serve to facilitate communication between researchers and clinicians and enhance clinical research. We believe, however, that some guidelines are necessary to protect human subjects. Investigators in the United States who are subject to U.S. Federal Government human subjects research regulations, or who are attached to an institution conducting such research, should consider some important issues before placing or responding to a request on the Internet. 1 ref.

  13. Association of Obesity-related Genetic Variants With Endometrial Cancer Risk: A Report From the Shanghai Endometrial Cancer Genetics Study

    PubMed Central

    Delahanty, Ryan J.; Beeghly-Fadiel, Alicia; Xiang, Yong-Bing; Long, Jirong; Cai, Qiuyin; Wen, Wanqing; Xu, Wang-Hong; Cai, Hui; He, Jing; Gao, Yu-Tang; Zheng, Wei; Shu, Xiao Ou

    2011-01-01

    Obesity is a well-established risk factor for endometrial cancer, the most common gynecologic malignancy. Recent genome-wide association studies (GWAS) have identified multiple genetic markers for obesity. The authors evaluated the association of obesity-related single nucleotide polymorphisms (SNPs) with endometrial cancer using GWAS data from their recently completed study, the Shanghai Endometrial Cancer Genetics Study, which comprised 832 endometrial cancer cases and 2,049 controls (1996–2005). Thirty-five SNPs previously associated with obesity or body mass index (BMI; weight (kg)/height (m)2) at a minimum significance level of ≤5 × 10−7 in the US National Human Genome Research Institute's GWAS catalog (http://genome.gov/gwastudies) and representing 26 unique loci were evaluated by either direct genotyping or imputation. The authors found that for 22 of the 26 unique loci tested (84.6%), the BMI-associated risk variants were present at a higher frequency in cases than in population controls (P = 0.0003). Multiple regression analysis showed that 9 of 35 BMI-associated variants, representing 7 loci, were significantly associated (P ≤ 0.05) with the risk of endometrial cancer; for all but 1 SNP, the direction of association was consistent with that found for BMI. For consistent SNPs, the allelic odds ratios ranged from 1.15 to 1.29. These 7 loci are in the SEC16B/RASAL, TMEM18, MSRA, SOX6, MTCH2, FTO, and MC4R genes. The associations persisted after adjustment for BMI, suggesting that genetic markers of obesity provide value in addition to BMI in predicting endometrial cancer risk. PMID:21976109

  14. Genetic mouse models to study blood–brain barrier development and function

    PubMed Central

    2013-01-01

    The blood–brain barrier (BBB) is a complex physiological structure formed by the blood vessels of the central nervous system (CNS) that tightly regulates the movement of substances between the blood and the neural tissue. Recently, the generation and analysis of different genetic mouse models has allowed for greater understanding of BBB development, how the barrier is regulated during health, and its response to disease. Here we discuss: 1) Genetic mouse models that have been used to study the BBB, 2) Available mouse genetic tools that can aid in the study of the BBB, and 3) Potential tools that if generated could greatly aid in our understanding of the BBB. PMID:23305182

  15. A molecular-genetic approach to studying source-sink interactions in Arabidopsis thalian. Final report

    SciTech Connect

    Gibson, S. I.

    2000-06-01

    This is a final report describing the results of the research funded by the DOE Energy Biosciences Program grant entitled ''A Molecular-Genetic Approach to Studying Source-Sink Interactions in Arabidiopsis thaliana''.

  16. Genetic Association Studies in Uterine Fibroids: Risk Alleles Presage the Path to Personalized Therapies.

    PubMed

    Gallagher, C Scott; Morton, Cynthia C

    2016-07-01

    Uterine leiomyoma (UL) is the most common tumor of the female reproductive system. Epidemiological analyses, including familial aggregation, twin studies, and racial discrepancies in disease prevalence and morbidity, indicated genetic factors influence risk for developing UL. Genome-wide association studies (GWASs) are a powerful method for identifying genetic variants that are associated with elevated risk for a common, complex disease. To date, three genome-wide scans for UL have been performed: a GWAS in Japanese women, a genome-wide linkage and association study in women of European decent, and an admixture-based analysis in African American women. Results from each of the three genome-wide scans performed have had varying success in identifying unique loci associated with predisposition to developing UL. Here, we address the evidence for a genetic basis for UL risk, discuss genetic association studies and their results, and identify challenges and future directions for UL GWAS analyses. PMID:27513025

  17. Genetic study of oxygen resistance and melanization in Cryptococcus neoformans.

    PubMed Central

    Emery, H S; Shelburne, C P; Bowman, J P; Fallon, P G; Schulz, C A; Jacobson, E S

    1994-01-01

    Genetic analysis of oxygen-sensitive mutants of Cryptococcus neoformans revealed two loci (oxy1 and oxy2) linking hyperoxia sensitivity to production of melanin, a known virulence factor. Hyperoxia-sensitive strain 562 (oxy1 oxy2) is albino and avirulent. oxy2-defective strains lacking the oxy1 defect are melanin deficient but show normal hyperoxia resistance. Mutants defective at three additional mapped melanin loci fail to show hyperoxia sensitivity in the oxy1 background. Revertants of strain 562, which regain the ability to synthesize melanin by mutation at suppressor sites unlinked to oxy2, retain the oxygen sensitivity conferred by their oxy1 and oxy2 defects. These data identify the melanin gene oxy2 as unique in its association of hyperoxia resistance and melanization. Images PMID:7960156

  18. Effect of sociocultural cleavage on genetic differentiation: a study from North India.

    PubMed

    Khan, Faisal; Pandey, Atul Kumar; Borkar, Meenal; Tripathi, Manorma; Talwar, Sudha; Bisen, P S; Agrawal, Suraksha

    2008-06-01

    Indian populations possess an exclusive genetic profile primarily due to the many migratory events, which caused an extensive range of genetic diversity, and also due to stringent and austere sociocultural barriers that structure these populations into different endogamous groups. In the present study we attempt to explore the genetic relationships between various endogamous North Indian populations and to determine the effect of stringent social regulations on their gene pool. Twenty STR markers were genotyped in 1,800 random North Indians from 9 endogamous populations belonging to upper-caste and middle-caste Hindus and Muslims. All nine populations had high allelic diversity (176 alleles) and average observed heterozygosity (0.742 +/- 0.06), suggesting strong intrapopulation diversity. The average F(ST) value over all loci was as low as 0.0084. However, within-group F(ST) and genetic distance analysis showed that populations of the same group were genetically closer to each other. The genetic distance of Muslims from middle castes (F(ST) = 0.0090; DA = 0.0266) was significantly higher than that of Muslims from upper castes (F(ST) = 0.0050; DA = 0.0148). Phylogenetic trees (neighbor-joining and maximum-likelihood) show the basal cluster pattern of three clusters corresponding to Muslims, upper-caste, and middle-caste populations, with Muslims clustered with upper-caste populations. Based on the results, we conclude that the extensive gene flow through a series of migrations and invasions has created an enormous amount of genetic diversity. The interpopulation differences are minimal but have a definite pattern, in which populations of different socioreligious groups have more genetic similarity within the same group and are genetically more distant from populations of other groups. Finally, North Indian Muslims show a differential genetic relationship with upper- and middle-caste populations. PMID:19130797

  19. Genetic factors in evolution of sleep length--a longitudinal twin study in Finnish adults.

    PubMed

    Hublin, Christer; Partinen, Markku; Koskenvuo, Markku; Kaprio, Jaakko

    2013-10-01

    Genetic factors affect many aspects of sleep, such as sleep length. We investigated the contribution of genetic factors to stability and change of sleep length among adults over a 15-year period. In this representative follow-up study we used the Finnish Twin Cohort as the study population. Questionnaire surveys were performed in 1975 (response rate 89%, 11,041 twin pairs; age ≥18 years), 1981 (84%, 9323; ≥24 years) and 1990 (77%, 4507; 33-60 years). Sleep was categorized as short (<7 h), average or long (>8 h). Pairwise similarity in monozygotic and dizygotic pairs was examined at each survey by age group and sex. Quantitative genetic modelling was used to estimate cross-sectional and longitudinal genetic effects. The proportion of variance in sleep length at one point in time that was accounted for by genetic effects was very stable over the study period, being 0.31 in 1975, 0.32 in 1981 and 0.30 in 1990. Longitudinal genetic modelling indicated that the correlations of genetic effects between the three measurement points were high: 0.85 between 1975 and 1981; 0.93 between 1981 and 1990; and 0.76 between 1975 and 1990. Despite a high contribution of environmental effects, their correlations over time were modest: 0.31 between 1975 and 1981; 0.33 between 1981 and 1990; and 0.18 between 1975 and 1990. In conclusion, genetic factors have a modest but stable effect on the evolution of sleep length over a long time span in adults. Multiple measures are a more robust basis for genetic analyses than a single cross-sectional measure. PMID:23509990

  20. Detecting Genetic Isolation in Human Populations: A Study of European Language Minorities

    PubMed Central

    Capocasa, Marco; Battaggia, Cinzia; Anagnostou, Paolo; Montinaro, Francesco; Boschi, Ilaria; Ferri, Gianmarco; Alù, Milena; Coia, Valentina; Crivellaro, Federica; Bisol, Giovanni Destro

    2013-01-01

    The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-term isolation and the effects of reduced sample size, selection and differential gene flow. To overcome these limitations, we have integrated the analysis of classical genetic diversity measures with a Bayesian method to estimate gene flow and have carried out simulations based on the coalescent. Combining these approaches, we first tested whether the relatively short history of cultural and geographical isolation of four “linguistic islands” of the Eastern Alps (Lessinia, Sauris, Sappada and Timau) had left detectable signatures in their genetic structure. We then compared our findings to previous studies of European population isolates. Finally, we explored the importance of demographic and cultural factors in shaping genetic diversity among the groups under study. A combination of small initial effective size and continued genetic isolation from surrounding populations seems to provide a coherent explanation for the diversity observed among Sauris, Sappada and Timau, which was found to be substantially greater than in other groups of European isolated populations. Simulations of micro-evolutionary scenarios indicate that ethnicity might have been important in increasing genetic diversity among these culturally related and spatially close populations. PMID:23418562

  1. Rhoptry protein 47 gene sequence: A potential novel genetic marker for population genetic studies of Toxoplasma gondii.

    PubMed

    Wang, Jin-Lei; Li, Ting-Ting; Li, Zhong-Yuan; Huang, Si-Yang; Ning, Hong-Rui; Zhu, Xing-Quan

    2015-07-01

    Toxoplasma gondii, an obligate intracellular parasite, is able to infect many animal species and humans, and can cause toxoplasmosis of the host. In this study, we examined sequence variation in rhoptry protein 47 (ROP47) gene among T. gondii isolates originating from different hosts and geographical regions. The entire genome region of the ROP47 gene was amplified and sequenced, and phylogenetic relationship was reconstructed using maximum parsimony (MP), maximum likelihood (ML) and neighbor-joining (NJ), based on the ROP47 gene sequences. The results of sequence alignments showed that all ROP47 gene sequences were 396 bp in length. There were 19 variable nucleotide positions in the coding region, resulted in 16 amino acid substitutions (12.21%) among all examined T. gondii strains and the existence of polymorphic restriction sites for endonucleases SacI and AflIII, allowing the differentiation of the three major clonal lineage types I, II and III by PCR-RFLP. Phylogenetic analysis of ROP47 gene sequences showed that three major clonal lineage types I, II and III were clustered differently, consistent with PCR-RFLP results. These results suggest that ROP47 gene sequence may represent a potential novel genetic marker for population genetic studies of T. gondii isolates. PMID:25862398

  2. A U-Statistic-based random Forest approach for genetic association study.

    PubMed

    Li, Ming; Peng, Ruo-Sin; Wei, Changshuai; Lu, Qing

    2012-01-01

    Variations in complex traits are influenced by multiple genetic variants, environmental risk factors, and their interactions. Though substantial progress has been made in identifying single genetic variants associated with complex traits, detecting the gene-gene and gene-environment interactions remains a great challenge. When a large number of genetic variants and environmental risk factors are involved, searching for interactions is limited to pair-wise interactions due to the exponentially increased feature space and computational intensity. Alternatively, recursive partitioning approaches, such as random forests, have gained popularity in high-dimensional genetic association studies. In this article, we propose a U-Statistic-based random forest approach, referred to as Forest U-Test, for genetic association studies with quantitative traits. Through simulation studies, we showed that the Forest U-Test outperformed exiting methods. The proposed method was also applied to study Cannabis Dependence (CD), using three independent datasets from the Study of Addiction: Genetics and Environment. A significant joint association was detected with an empirical p-value less than 0.001. The finding was also replicated in two independent datasets with p-values of 5.93e-19 and 4.70e-17, respectively. PMID:22652671

  3. Genetic architecture for human aggression: A study of gene-phenotype relationship in OMIM.

    PubMed

    Zhang-James, Yanli; Faraone, Stephen V

    2016-07-01

    Genetic studies of human aggression have mainly focused on known candidate genes and pathways regulating serotonin and dopamine signaling and hormonal functions. These studies have taught us much about the genetics of human aggression, but no genetic locus has yet achieved genome-significance. We here present a review based on a paradoxical hypothesis that studies of rare, functional genetic variations can lead to a better understanding of the molecular mechanisms underlying complex multifactorial disorders such as aggression. We examined all aggression phenotypes catalogued in Online Mendelian Inheritance in Man (OMIM), an Online Catalog of Human Genes and Genetic Disorders. We identified 95 human disorders that have documented aggressive symptoms in at least one individual with a well-defined genetic variant. Altogether, we retrieved 86 causal genes. Although most of these genes had not been implicated in human aggression by previous studies, the most significantly enriched canonical pathways had been previously implicated in aggression (e.g., serotonin and dopamine signaling). Our findings provide strong evidence to support the causal role of these pathways in the pathogenesis of aggression. In addition, the novel genes and pathways we identified suggest additional mechanisms underlying the origins of human aggression. Genome-wide association studies with very large samples will be needed to determine if common variants in these genes are risk factors for aggression. © 2015 Wiley Periodicals, Inc. PMID:26288127

  4. A quantitative sensitivity analysis on the behaviour of common thermal indices under hot and windy conditions in Doha, Qatar

    NASA Astrophysics Data System (ADS)

    Fröhlich, Dominik; Matzarakis, Andreas

    2016-04-01

    Human thermal perception is best described through thermal indices. The most popular thermal indices applied in human bioclimatology are the perceived temperature (PT), the Universal Thermal Climate Index (UTCI), and the physiologically equivalent temperature (PET). They are analysed focusing on their sensitivity to single meteorological input parameters under the hot and windy meteorological conditions observed in Doha, Qatar. It can be noted, that the results for the three indices are distributed quite differently. Furthermore, they respond quite differently to modifications in the input conditions. All of them show particular limitations and shortcomings that have to be considered and discussed. While the results for PT are unevenly distributed, UTCI shows limitations concerning the input data accepted. PET seems to respond insufficiently to changes in vapour pressure. The indices should therefore be improved to be valid for several kinds of climates.

  5. Concentration, composition and sources of PAHs in the coastal sediments of the exclusive economic zone (EEZ) of Qatar, Arabian Gulf.

    PubMed

    Soliman, Y S; Al Ansari, E M S; Wade, T L

    2014-08-30

    Surface sediments were collected from sixteen locations in order to assess levels and sources of polycyclic aromatic hydrocarbons (PAHs) in sediments of Qatar exclusive economic zone (EEZ). Samples were analyzed for 16 parent PAHs, 18 alkyl homologs and for dibenzothiophenes. Total PAHs concentration (∑PAHs) ranged from 2.6 ng g(-1) to 1025 ng g(-1). The highest PAHs concentrations were in sediments in and adjacent to harbors. Alkylated PAHs predominated most of the sampling locations reaching up to 80% in offshore locations. Parent PAHs and parent high molecular weight PAHs dominated location adjacent to industrial activities and urban areas. The origin of PAHs sources to the sediments was elucidated using ternary plot, indices, and molecular ratios of specific compounds such as (Ant/Phe+Ant), (Flt/Flt+Pyr). PAHs inputs to most coastal sites consisted of mixture of petroleum and combustion derived sources. However, inputs to the offshore sediments were mainly of petroleum origin. PMID:24798421

  6. Genome-Wide Association Studies: Progress in Identifying Genetic Biomarkers in Common, Complex Diseases

    PubMed Central

    Kingsmore, Stephen F.; Lindquist, Ingrid E.; Mudge, Joann; Beavis, William D.

    2007-01-01

    Novel, comprehensive approaches for biomarker discovery and validation are urgently needed. One particular area of methodologic need is for discovery of novel genetic biomarkers in complex diseases and traits. Here, we review recent successes in the use of genome wide association (GWA) approaches to identify genetic biomarkers in common human diseases and traits. Such studies are yielding initial insights into the allelic architecture of complex traits. In general, it appears that complex diseases are associated with many common polymorphisms, implying profound genetic heterogeneity between affected individuals. PMID:19662211

  7. Balancing genetic uniqueness and genetic variation in determining conservation and translocation strategies: a comprehensive case study of threatened dwarf galaxias, Galaxiella pusilla (Mack) (Pisces: Galaxiidae).

    PubMed

    Coleman, R A; Weeks, A R; Hoffmann, A A

    2013-04-01

    Genetic markers are widely used to define and manage populations of threatened species based on the notion that populations with unique lineages of mtDNA and well-differentiated nuclear marker frequencies should be treated separately. However, a danger of this approach is that genetic uniqueness might be emphasized at the cost of genetic diversity, which is essential for adaptation and is potentially boosted by mixing geographically separate populations. Here, we re-explore the issue of defining management units, focussing on a detailed study of Galaxiella pusilla, a small freshwater fish of national conservation significance in Australia. Using a combination of microsatellite and mitochondrial markers, 51 populations across the species range were surveyed for genetic structure and diversity. We found an inverse relationship between genetic differentiation and genetic diversity, highlighting a long-term risk of deliberate isolation of G. pusilla populations based on protection of unique lineages. Instead, we adopt a method for identifying genetic management units that takes into consideration both uniqueness and genetic variation. This produced a management framework to guide future translocation and re-introduction efforts for G. pusilla, which contrasted to the framework based on a more traditional approach that may overlook important genetic variation in populations. PMID:23432132

  8. Genetic counseling

    MedlinePlus

    Genetics is the study of heredity, the process of a parent passing certain genes on to their ... certain diseases are also often determined by genes. Genetic counseling is the process where parents can learn ...

  9. Exploring the Impact on Students of Western Universities on Foreign Soil: A Case Study of Qatar

    ERIC Educational Resources Information Center

    Bakken, Richard

    2013-01-01

    The development of branch campuses in higher education is not a new phenomenon. Over the past decades, however, branch campuses have expanded throughout the world as Western universities have begun to deliver their programs and course offerings in countries that expect the West to provide educational (and, by implication, economic) success. Middle…

  10. Challenges to conservation: land use change and local participation in the Al Reem Biosphere Reserve, West Qatar

    PubMed Central

    2010-01-01

    One response to humanity's unsustainable use of natural resources and consequent degradation, even destruction of the environment, is to establish conservation areas to protect Nature and preserve biodiversity at least in selected regions. In Qatar, the government has shown strong support for this approach, confronted by the environmental consequences of oil and gas extraction and rapid urban development, by designating about one-tenth of the country a conservation area. Located in the west of the peninsula, it comprises the Al Reem Reserve, subsequently declared a UNESCO Biosphere Reserve. Several approaches have figured in conservation, currently popular is co-management featuring participation of the local population, which recognises that people's activities often contribute to today's environment, with the promotion of bio-cultural diversity. However, these assumptions may not hold where rapid social and cultural change occurs, as in Qatar. We explore the implications of such change, notably in land use. We detail changes resulting with the move from nomadic to sedentary lifestyles: in land access, which now features tribal-state control, and herding strategies, which now feature migrant labour and depend on imported fodder and water, underwritten by the country's large gas and oil revenues. Current stocking arrangements - animals herded in much smaller areas than previously - are thought responsible for the degradation of natural resources. The place of animals, notably camels, in Qatari life, has also changed greatly, possibly further promoting overstocking. Many local people disagree. What are the implications of such changes for the participatory co-management of conservation areas? Do they imply turning the clock back to centrally managed approaches that seek to control access and local activities? PMID:20964818

  11. Genome-wide Association Studies from the Cancer Genetic Markers of Susceptibility (CGEMS) Initiative | Office of Cancer Genomics

    Cancer.gov

    CGEMS identifies common inherited genetic variations associated with a number of cancers, including breast and prostate. Data from these genome-wide association studies (GWAS) are available through the Division of Cancer Epidemiology & Genetics website.

  12. Genetic and environmental influences on applied creativity: A reared-apart twin study

    PubMed Central

    Velázquez, Jaime A.; Segal, Nancy L.; Horwitz, Briana N.

    2015-01-01

    Applied creativity involves bringing innovation to real-life activities. The first reared-apart twin study assessing genetic and environmental origins of applied creativity, via Draw-a-House (DAH) and Draw-a-Person (DAP) tasks, is presented. Participants included 69 MZA and 53 DZA twin pairs from the Minnesota Study of Twins Reared Apart. Drawings were evaluated by four artists and four non-artists. Genetic effects were demonstrated for the DAP (.38–.47), but not for the DAH. Creative personality showed genetic effects (.50), and modest, but significant correlations with scores on the two drawings (rs = .17–.26). Both genetic and nonshared environmental influences underlie variance in applied creativity. Individuals concerned with enhancing creativity among students and others may better understand individual differences in performance and training. PMID:26366030

  13. An F2 Pig Resource Population as a Model for Genetic Studies of Obesity and Obesity-Related Diseases in Humans: Design and Genetic Parameters

    PubMed Central

    Kogelman, Lisette J. A.; Kadarmideen, Haja N.; Mark, Thomas; Karlskov-Mortensen, Peter; Bruun, Camilla S.; Cirera, Susanna; Jacobsen, Mette J.; Jørgensen, Claus B.; Fredholm, Merete

    2013-01-01

    Obesity is a rising worldwide public health problem. Difficulties to precisely measure various obesity traits and the genetic heterogeneity in human have been major impediments to completely disentangle genetic factors causing obesity. The pig is a relevant model for studying human obesity and obesity-related (OOR) traits. Using founder breeds divergent with respect to obesity traits we have created an F2 pig resource population (454 pigs), which has been intensively phenotyped for 36 OOR traits. The main rationale for our study is to characterize the genetic architecture of OOR traits in the F2 pig design, by estimating heritabilities, genetic, and phenotypic correlations using mixed- and multi-trait BLUP animal models. Our analyses revealed high coefficients of variation (15–42%) and moderate to high heritabilities (0.22–0.81) in fatness traits, showing large phenotypic and genetic variation in the F2 population, respectively. This fulfills the purpose of creating a resource population divergent for OOR traits. Strong genetic correlations were found between weight and lean mass at dual-energy x-ray absorptiometry scanning (0.56–0.97). Weight and conformation also showed strong genetic correlations with slaughter traits (e.g., rg between abdominal circumference and leaf fat at slaughtering: 0.66). Genetic correlations between fat-related traits and the glucose level vary between 0.35 and 0.74 and show a strong correlation between adipose tissue and impaired glucose metabolism. Our power calculations showed a minimum of 80% power for QTL detection for all phenotypes. We revealed genetic correlations at population level, for the first time, for several difficult to measure and novel OOR traits and diseases. The results underpin the potential of the established F2 pig resource population for further genomic, systems genetics, and functional investigations to unravel the genetic background of OOR traits. PMID:23515185

  14. Genetic studies in narcolepsy, a disorder affecting REM sleep.

    PubMed

    Faraco, J; Lin, X; Li, R; Hinton, L; Lin, L; Mignot, E

    1999-01-01

    Narcolepsy is a disabling sleep disorder characterized by excessive daytime sleepiness and abnormal manifestations of rapid eye movement (REM) sleep including cataplexy, sleep paralysis, and hypnagogic hallucinations. It is known to be a complex disorder, with both genetic predisposition and environmental factors playing a role. In humans, susceptibility to narcolepsy is tightly associated with a specific HLA allele, DQB1*0602. In humans and canines, most cases are sporadic. In Doberman pinschers and Labrador retrievers, however, the disease is transmitted as an autosomal recessive gene canarc-1 with full penetrance. This gene is not linked with the dog leukocyte antigen complex, but is tightly linked with a marker with high homology to the human mu-switch immunoglobulin gene. We have isolated several genomic clones encompassing the canarc-1 marker and the variable heavy chain immunoglobulin region in canines. These have been partially sequenced and have been mapped onto specific dog chromosomes by fluorescence in situ hybridization (FISH). Our results indicate that the mu-switch-like marker is not part of the canine immunoglobulin machinery. We are continuing to extend the genomic contig using a newly developed canine BAC library and attempting to identify the corresponding human region of conserved synteny. PMID:9987919

  15. Immunologic and genetic studies of diabetes in the BB rat.

    PubMed

    Parfrey, N A; Prud'homme, G J; Colle, E; Fuks, A; Seemayer, T A; Guttmann, R D; Ono, S J

    1989-01-01

    The spontaneous development of diabetes in the Bio-Breeding (BB) rat is an excellent model of human insulin-dependent diabetes mellitus (IDDM). Disease expression is dependent on several genetically determined abnormalities, including specific major histocompatibility complex (MHC) genes. At least one MHC class II locus of the U haplotype is a necessary, but not sufficient, condition for disease expression. The immune system of BB rats is markedly abnormal. There is a striking reduction in the number and function of mature cytotoxic/suppressor T cells, a poor proliferative response to mitogens and in mixed lymphocyte culture, poor interleukin-2 production, and a reduced ability to reject skin allografts. While these immune system abnormalities are closely related to the development of diabetes, the immune recognition and effector mechanisms resulting in islet cell destruction are still poorly understood. The hypothesis that MHC class II induction on pancreatic beta cells serves to target these lymphokines, natural killer (NK) cells, macrophages, etc.) have been implicated in islet cell killing. The incidence of IDDM is reduced by immunosuppressive therapy in both rats and humans, further supporting the role of immune mechanisms in this disease. PMID:2651002

  16. Genetic Studies of the Mouse Mutations Mahogany and Mahoganoid

    PubMed Central

    Miller, K. A.; Gunn, T. M.; Carrasquillo, M. M.; Lamoreux, M. L.; Galbraith, D. B.; Barsh, G. S.

    1997-01-01

    The mouse mutations mahogany (mg) and mahoganoid (md) are negative modifiers of the Agouti coat color gene, which encodes a paracrine signaling molecule that induces a switch in melanin synthesis from eumelanin to pheomelanin. Animals mutant for md or mg synthesize very little or no pheomelanin depending on Agouti gene background. The Agouti protein is normally expressed in the skin and acts as an antagonist of the melanocyte receptor for α-MSH (Mc1r); however, ectopic expression of Agouti causes obesity, possibly by antagonizing melanocortin receptors expressed in the brain. To investigate where md and mg lie in a genetic pathway with regard to Agouti and Mc1r signaling, we determined the effects of these mutations in animals that carried either a loss-of-function Mc1r mutation (recessive yellow, Mc1r(e)) or a gain-of-function Agouti mutation (lethal yellow, A(y)). We found that the Mc1r(e) mutation suppressed the effects of md and mg, but that md and mg suppressed the effects of A(y) on both coat color and obesity. Plasma levels of α-MSH and of ACTH were unaffected by md or mg. These results suggest that md and mg interfere directly with Agouti signaling, possibly at the level of protein production or receptor regulation. PMID:9258683

  17. [Studies on the genetic susceptibility to dilated cardiomyopathy].

    PubMed

    Li, Y Y; Zhang, J N; Ma, W Z

    1993-01-01

    HLA-DQB1,-DRB1 genes of 27 Chinese patients with dilated cardiomyopathy (DCM), 7 high risk individuals in a DCM kindred and 17 normal control subjects were analysed with the use of restriction fragment length polymorphisms (RFLP) with full length DQB1 and DRB1 cDNA probes according to the standard and nomenclature of the Xth International Histocompatibility Workshop. The resulting restriction patterns allowed genotyping of HLA-DR and HLA-DQw. D-DQw8 frequency increased significantly in patients with DCM as compared with that of the controls (P < 0.05). D-DQw4 also increased in patients although no statistical significance was shown when Chi-square value was corrected with Yate's correction, whereas D-DQw5 overrepresented in controls (P < 0.05). Over half of the high risk individuals (4/7) in the familial DCM kindred carry D-DQw8 and D-DQw4. These results support the hypothesis that HLA class II genes were associated with an increased risk for DCM, HLA-DQB rather than -DRB may confer genetic susceptibility to DCM. PMID:8104770

  18. Genetic and Immunological Studies of Bacteriophage T4 Thymidylate Synthetase

    PubMed Central

    Krauss, S. W.; Stollar, B. D.; Friedkin, M.

    1973-01-01

    Thymidylate synthetase, which appears after infection of Escherichia coli with bacteriophage T4, has been partially purified. The phage enzyme is immunologically distinct from the host enzyme and has a molecular weight of 50,000 in comparison to 68,000 for the host enzyme. A system has been developed to characterize T4 td mutants previously known to have impaired expression of phage thymidylate synthetase. For this system, an E. coli host lacking thymidylate synthetase was isolated. Known genetic suppressors were transduced into this host. The resulting isogenic hosts were infected with phage T4 td mutants. The specific activities and amounts of cross-reacting material induced by several different types of phage mutants under conditions of suppression or non-suppression have been examined. The results show that the phage carries the structural gene specifying the thymidylate synthetase which appears after phage infection, and that the combination of plaque morphology, enzyme activity assays, and an assay for immunologically cross-reacting material provides a means for identifying true amber mutants of the phage gene. Images PMID:4575286

  19. Drosophila melanogaster as a genetic model system to study neurotransmitter transporters

    PubMed Central

    Martin, Ciara A.; Krantz, David E.

    2014-01-01

    The model genetic organism Drosophila melanogaster, commonly known as the fruit fly, uses many of the same neurotransmitters as mammals and very similar mechanisms of neurotransmitter storage, release and recycling. This system offers a variety of powerful molecular-genetic methods for the study of transporters, many of which would be difficult in mammalian models. We review here progress made using Drosophila to understand the function and regulation of neurotransmitter transporters and discuss future directions for its use. PMID:24704795

  20. Autism and genetics: Clinical approach and association study with two markers of HRAS gene

    SciTech Connect

    Herault, J.; Petit, E.; Cherpi, C.

    1995-08-14

    Twin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c-Harvey-ras (HRAS) oncogene marker at the 3{prime} end of the coding region. In an attempt to confirm this finding, we studied a larger population, well-characterized clinically and genetically. We report a positive association between autism and two HRAS markers, the 3{prime} marker used in the initial study and an additional marker in exon 1. 46 refs., 1 fig., 2 tabs.

  1. Genetic differentiation of Alaska Chinook salmon: the missing link for migratory studies.

    PubMed

    Templin, William D; Seeb, James E; Jasper, James R; Barclay, Andrew W; Seeb, Lisa W

    2011-03-01

    Most information about Chinook salmon genetic diversity and life history originates from studies from the West Coast USA, western Canada and southeast Alaska; less is known about Chinook salmon from western and southcentral Alaska drainages. Populations in this large area are genetically distinct from populations to the south and represent an evolutionary legacy of unique genetic, phenotypic and life history diversity. More genetic information is necessary to advance mixed stock analysis applications for studies involving these populations. We assembled a comprehensive, open-access baseline of 45 single nucleotide polymorphisms (SNPs) from 172 populations ranging from Russia to California. We compare SNP data from representative populations throughout the range with particular emphasis on western and southcentral Alaska. We grouped populations into major lineages based upon genetic and geographic characteristics, evaluated the resolution for identifying the composition of admixtures and performed mixed stock analysis on Chinook salmon caught incidentally in the walleye pollock fishery in the Bering Sea. SNP data reveal complex genetic structure within Alaska and can be used in applications to address not only regional issues, but also migration pathways, bycatch studies on the high seas, and potential changes in the range of the species in response to climate change. PMID:21429177

  2. Parents' and children's communication about genetic risk: a qualitative study, learning from families' experiences

    PubMed Central

    Metcalfe, Alison; Plumridge, Gill; Coad, Jane; Shanks, Andrew; Gill, Paramjit

    2011-01-01

    Little is known about how parents explain to their children their risk of inheriting a gene that may cause disease in the child or in the child's future progeny. This study explored how genetic risk information is shared between family members and the factors affecting it, to ascertain the implications for children, young people and their parents to inform future service development and provision. A volunteer group of parents, children (8–11 years) and young people (12+ years) in families affected by or at risk of one of six inherited genetic conditions was interviewed. The semi-structured interviews explored the roles of family members, the language used and the self-reported psychological outcomes in a discussion on genetic risk information. The findings were analysed using grounded theory. A total of 33 families participated, which included 79 individuals. Parents often found discussing genetic risk information very difficult and emotionally painful. Discussions were not usually planned and often a major event prompted parents to finally explain genetic risks to their children; however, children usually preferred to learn about the genetic condition gradually throughout childhood. Parents identified a number of challenges they faced related to talking to children, and many thought health professionals should provide more advice to assist them in providing developmentally appropriate information. We therefore conclude that greater emphasis is required in supporting parents and children in discussing genetic risk information throughout their child's development. Open communication about genetic risks throughout childhood seemed to help children and parents cope better and come to terms with the implications of the genetic condition. PMID:21326287

  3. The Influences of Genetic and Environmental Factors on Methylome-wide Association Studies for Human Diseases

    PubMed Central

    Sun, Yan V.

    2014-01-01

    DNA methylation (DNAm) is an essential epigenetic mechanism for normal development, and its variation may be associated with diseases. High-throughput technology allows robust measurement of DNA methylome in population studies. Methylome-wide association studies (MWAS) scan DNA methylome to detect new epigenetic loci affecting disease susceptibility. MWAS is an emerging approach to unraveling the mechanism linking genetics, environment, and human diseases. Here I review the recent studies of genetic determinants and environmental modifiers of DNAm, and the concept for partitioning genetic and environmental contribution to DNAm. These studies establish the correlation maps between genome and methylome, and enable the interpretation of epigenetic association with disease traits. Recent findings suggested that MWAS was a promising genomic method to identify epigenetic predictors accounting for unexplained disease risk. However, new study designs, analytical methods and shared resources need to be implemented to address the limitations and challenges in future epigenomic epidemiologic studies. PMID:25422794

  4. Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland.

    PubMed

    Zeggini, Eleftheria; Gloyn, Anna L; Hansen, Torben

    2016-05-01

    Over the last 10 years substantial progress has been made in our understanding of the genetic basis for type 2 diabetes and related traits. These developments have been facilitated by technological advancements that have allowed comprehensive genome-wide assessments of the impact of common genetic variation on disease risk. Current efforts are now focused on extending this to genetic variants in the rare and low-frequency spectrum by capitalising on next-generation sequencing technologies. This review discusses the important contributions that studies in isolated populations are making to this effort for diabetes and metabolic disease, drawing on specific examples from populations in Greece and Greenland. This review summarises a presentation given at the 'Exciting news in genetics of diabetes' symposium at the 2015 annual meeting of the EASD, with topics presented by Eleftheria Zeggini and Torben Hansen, and an overview by the Session Chair, Anna Gloyn. PMID:26993633

  5. Dioecy, more than monoecy, affects plant spatial genetic structure: the case study of Ficus

    PubMed Central

    Nazareno, Alison G; Alzate-Marin, Ana L; Pereira, Rodrigo Augusto S

    2013-01-01

    In this analysis, we attempt to understand how monoecy and dioecy drive spatial genetic structure (SGS) in plant populations. For this purpose, plants of the genus Ficus were used as a comparative model due to their particular characteristics, including high species diversity, variation in life histories, and sexual systems. One of the main issues we assessed is whether dioecious fig tree populations are more spatially genetically structured than monoecious populations. Using the Sp statistic, which allows for quantitative comparisons among different studies, we compared the extent of SGS between monoecious and dioecious Ficus species. To broaden our conclusions we used published data on an additional 27 monoecious and dioecious plant species. Furthermore, genetic diversity analyses were performed for two monoecious Ficus species using 12 microsatellite markers in order to strengthen our conclusions about SGS. Our results show that dioecy, more than monoecy, significantly contributes to SGS in plant populations. On average, the estimate of Sp was six times higher for dioecious Ficus species than monoecious Ficus species and it was two times higher in dioecious than monoecious plant species. Considering these results, we emphasize that the long-distance pollen dispersal mechanism in monoecious Ficus species seems to be the dominant factor in determining weak spatial genetic structure, high levels of genetic diversity, and lack of inbreeding. Although Ficus constitute a model species to study SGS, a more general comparison encompassing a wider range of plants is required in order to better understand how sexual systems affect genetic structure. PMID:24223285

  6. Experimental designs for evaluation of genetic variability and selection of ancient grapevine varieties: a simulation study.

    PubMed

    Gonçalves, E; St Aubyn, A; Martins, A

    2010-06-01

    Classical methodologies for grapevine selection used in the vine-growing world are generally based on comparisons among a small number of clones. This does not take advantage of the entire genetic variability within ancient varieties, and therefore limits selection challenges. Using the general principles of plant breeding and of quantitative genetics, we propose new breeding strategies, focussed on conservation and quantification of genetic variability by performing a cycle of mass genotypic selection prior to clonal selection. To exploit a sufficiently large amount of genetic variability, initial selection trials must be generally very large. The use of experimental designs adequate for those field trials has been intensively recommended for numerous species. However, their use in initial trials of grapevines has not been studied. With the aim of identifying the most suitable experimental designs for quantification of genetic variability and selection of ancient varieties, a study was carried out to assess through simulation the comparative efficiency of various experimental designs (randomized complete block design, alpha design and row-column (RC) design). The results indicated a greater efficiency for alpha and RC designs, enabling more precise estimates of genotypic variance, greater precision in the prediction of genetic gain and consequently greater efficiency in genotypic mass selection. PMID:19904297

  7. Integrating Nonadditive Genomic Relationship Matrices into the Study of Genetic Architecture of Complex Traits.

    PubMed

    Nazarian, Alireza; Gezan, Salvador A

    2016-03-01

    The study of genetic architecture of complex traits has been dramatically influenced by implementing genome-wide analytical approaches during recent years. Of particular interest are genomic prediction strategies which make use of genomic information for predicting phenotypic responses instead of detecting trait-associated loci. In this work, we present the results of a simulation study to improve our understanding of the statistical properties of estimation of genetic variance components of complex traits, and of additive, dominance, and genetic effects through best linear unbiased prediction methodology. Simulated dense marker information was used to construct genomic additive and dominance matrices, and multiple alternative pedigree- and marker-based models were compared to determine if including a dominance term into the analysis may improve the genetic analysis of complex traits. Our results showed that a model containing a pedigree- or marker-based additive relationship matrix along with a pedigree-based dominance matrix provided the best partitioning of genetic variance into its components, especially when some degree of true dominance effects was expected to exist. Also, we noted that the use of a marker-based additive relationship matrix along with a pedigree-based dominance matrix had the best performance in terms of accuracy of correlations between true and estimated additive, dominance, and genetic effects. PMID:26712858

  8. Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research.

    PubMed

    Widdig, Anja; Kessler, Matthew J; Bercovitch, Fred B; Berard, John D; Duggleby, Christine; Nürnberg, Peter; Rawlins, Richard G; Sauermann, Ulrike; Wang, Qian; Krawczak, Michael; Schmidtke, Jörg

    2016-01-01

    Genetic studies not only contribute substantially to our current understanding of the natural variation in behavior and health in many species, they also provide the basis of numerous in vivo models of human traits. Despite the many challenges posed by the high level of biological and social complexity, a long lifespan and difficult access in the field, genetic studies of primates are particularly rewarding because of the close evolutionary relatedness of these species to humans. The free-ranging rhesus macaque (Macaca mulatta) population on Cayo Santiago (CS), Puerto Rico, provides a unique resource in this respect because several of the abovementioned caveats are of either minor importance there, or lacking altogether, thereby allowing long-term genetic research in a primate population under constant surveillance since 1956. This review summarizes more than 40 years of genetic research carried out on CS, from early blood group typing and the genetic characterization of skeletal material via population-wide paternity testing with DNA fingerprints and short tandem repeats (STRs) to the analysis of the highly polymorphic DQB1 locus within the major histocompatibility complex (MHC). The results of the paternity studies also facilitated subsequent studies of male dominance and other factors influencing male reproductive success, of male reproductive skew, paternal kin bias, and mechanisms of paternal kin recognition. More recently, the CS macaques have been the subjects of functional genetic and gene expression analyses and have played an important role in behavioral and quantitative genetic studies. In addition, the CS colony has been used as a natural model for human adult-onset macular degeneration, glaucoma, and circadian rhythm disorder. Our review finishes off with a discussion of potential future directions of research on CS, including the transition from STRs to single nucleotide polymorphism (SNP) typing and whole genome sequencing. PMID:26031601

  9. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

    PubMed Central

    Kasperavičiūtė, Dalia; Catarino, Claudia B.; Heinzen, Erin L.; Depondt, Chantal; Cavalleri, Gianpiero L.; Caboclo, Luis O.; Tate, Sarah K.; Jamnadas-Khoda, Jenny; Chinthapalli, Krishna; Clayton, Lisa M.S.; Shianna, Kevin V.; Radtke, Rodney A.; Mikati, Mohamad A.; Gallentine, William B.; Husain, Aatif M.; Alhusaini, Saud; Leppert, David; Middleton, Lefkos T.; Gibson, Rachel A.; Johnson, Michael R.; Matthews, Paul M.; Hosford, David; Heuser, Kjell; Amos, Leslie; Ortega, Marcos; Zumsteg, Dominik; Wieser, Heinz-Gregor; Steinhoff, Bernhard J.; Krämer, Günter; Hansen, Jörg; Dorn, Thomas; Kantanen, Anne-Mari; Gjerstad, Leif; Peuralinna, Terhi; Hernandez, Dena G.; Eriksson, Kai J.; Kälviäinen, Reetta K.; Doherty, Colin P.; Wood, Nicholas W.; Pandolfo, Massimo; Duncan, John S.; Sander, Josemir W.; Delanty, Norman

    2010-01-01

    Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease risk, the role of common variation in partial epilepsies has not yet been explored in a well-powered study. We undertook a genome-wide association-study to identify common variants which influence risk for epilepsy shared amongst partial epilepsy syndromes, in 3445 patients and 6935 controls of European ancestry. We did not identify any genome-wide significant association. A few single nucleotide polymorphisms may warrant further investigation. We exclude common genetic variants with effect sizes above a modest 1.3 odds ratio for a single variant as contributors to genetic susceptibility shared across the partial epilepsies. We show that, at best, common genetic variation can only have a modest role in predisposition to the partial epilepsies when considered across syndromes in Europeans. The genetic architecture of the partial epilepsies is likely to be very complex, reflecting genotypic and phenotypic heterogeneity. Larger meta-analyses are required to identify variants of smaller effect sizes (odds ratio <1.3) or syndrome-specific variants. Further, our results suggest research efforts should also be directed towards identifying the multiple rare variants likely to account for at least part of the heritability of the partial epilepsies. Data emerging from genome-wide association-studies will be valuable during the next serious challenge of interpreting all the genetic variation emerging from whole-genome sequencing studies. PMID:20522523

  10. Studying Human Disease Genes in "Caenorhabditis Elegans": A Molecular Genetics Laboratory Project

    ERIC Educational Resources Information Center

    Cox-Paulson, Elisabeth A.; Grana, Theresa M.; Harris, Michelle A.; Batzli, Janet M.

    2012-01-01

    Scientists routinely integrate information from various channels to explore topics under study. We designed a 4-wk undergraduate laboratory module that used a multifaceted approach to study a question in molecular genetics. Specifically, students investigated whether "Caenorhabditis elegans" can be a useful model system for studying genes…

  11. Employing biomarkers of healthy ageing for leveraging genetic studies into human longevity.

    PubMed

    Deelen, Joris; van den Akker, Erik B; Trompet, Stella; van Heemst, Diana; Mooijaart, Simon P; Slagboom, P Eline; Beekman, Marian

    2016-09-01

    Genetic studies have thus far identified a limited number of loci associated with human longevity by applying age at death or survival up to advanced ages as phenotype. As an alternative approach, one could first try to identify biomarkers of healthy ageing and the genetic variants associated with these traits and subsequently determine the association of these variants with human longevity. In the present study, we used this approach by testing whether the 35 baseline serum parameters measured in the Leiden Longevity Study (LLS) meet the proposed criteria for a biomarker of healthy ageing. The LLS consists of 421 families with long-lived siblings of European descent, who were recruited together with their offspring and the spouses of the offspring (controls). To test the four criteria for a biomarker of healthy ageing in the LLS, we determined the association of the serum parameters with chronological age, familial longevity, general practitioner-reported general health, and mortality. Out of the 35 serum parameters, we identified glucose, insulin, and triglycerides as biomarkers of healthy ageing, meeting all four criteria in the LLS. We subsequently showed that the genetic variants previously associated with these parameters are significantly enriched in the largest genome-wide association study for human longevity. In conclusion, we showed that biomarkers of healthy ageing can be used to leverage genetic studies into human longevity. We identified several genetic variants influencing the variation in glucose, insulin and triglycerides that contribute to human longevity. PMID:27374409

  12. Power assessment for genetic association study of human longevity using offspring of long-lived subjects

    PubMed Central

    Zhao, Jing Hua; Li, Shuxia; Kruse, Torben A.; Christensen, Kaare

    2010-01-01

    Recently, an indirect genetic association approach that compares genotype frequencies in offspring of long-lived subjects and offspring from random families has been introduced to study gene-longevity associations. Although the indirect genetic association has certain advantages over the direct association approach that compares genotype frequency between centenarians and young controls, the power has been of concern. This paper reports a power study performed on the indirect approach using computer simulation. We perform our simulation study by introducing the current Danish population life table and the proportional hazard model for generating individual lifespan. Family genotype data is generated using a genetic linkage program for given SNP allele frequency. Power is estimated by setting the type I error rate at 0.05 and by calculating the Armitage’s chi-squared test statistic for 200 replicate samples for each setting of the specified allele risk and frequency parameters under different modes of inheritance and for different sample sizes. The indirect genetic association analysis is a valid approach for studying gene-longevity association, but the sample size requirement is about 3–4 time larger than the direct approach. It also has low power in detecting non-additive effect genes. Indirect genetic association using offspring from families with both parents as nonagenarians is nearly as powerful as using offspring from families with one centenarian parent. In conclusion, the indirect design can be a good choice for studying longevity in comparison with other alternatives, when relatively large sample size is available. PMID:20512403

  13. Can captive populations function as sources of genetic variation for reintroductions into the wild? A case study of the Arabian oryx from the Phoenix Zoo and the Shaumari Wildlife Reserve, Jordan

    USGS Publications Warehouse

    Ochoa, Alexander; Wells, Stuart A.; West, Gary; Al-Smadi, Ma’en; Redondo, Sergio A.; Sexton, Sydnee R.; Culver, Melanie

    2016-01-01

    The Arabian oryx (Oryx leucoryx) historically ranged across the Arabian Peninsula and neighboring countries until its extirpation in 1972. In 1963–1964 a captive breeding program for this species was started at the Phoenix Zoo (PHX); it ultimately consisted of 11 animals that became known as the ‘World Herd’. In 1978–1979 a wild population was established at the Shaumari Wildlife Reserve (SWR), Jordan, with eight descendants from the World Herd and three individuals from Qatar. We described the mtDNA and nuclear genetic diversity and structure of PHX and SWR. We also determined the long-term demographic and genetic viability of these populations under different reciprocal translocation scenarios. PHX displayed a greater number of mtDNA haplotypes (n = 4) than SWR (n = 2). Additionally, PHX and SWR presented nuclear genetic diversities of N¯AN¯A = 2.88 vs. 2.75, H¯OH¯O = 0.469 vs. 0.387, and H¯EH¯E = 0.501 vs. 0.421, respectively. Although these populations showed no signs of inbreeding (F¯ISF¯IS ≈ 0), they were highly differentiated (G′′STGST′′ = 0.580; P < 0.001). Migration between PHX and SWR (Nm = 1, 4, and 8 individuals/generation) increased their genetic diversity in the short-term and substantially reduced the probability of extinction in PHX during 25 generations. Under such scenarios, maximum genetic diversities were achieved in the first generations before the effects of genetic drift became predominant. Although captive populations can function as sources of genetic variation for reintroduction programs, we recommend promoting mutual and continuous gene flow with wild populations to ensure the long-term survival of this species.

  14. Born to Lead? A Twin Design and Genetic Association Study of Leadership Role Occupancy*

    PubMed Central

    De Neve, Jan-Emmanuel; Mikhaylov, Slava; Dawes, Christopher T.; Christakis, Nicholas A.; Fowler, James H.

    2013-01-01

    We address leadership emergence and the possibility that there is a partially innate predisposition to occupy a leadership role. Employing twin design methods on data from the National Longitudinal Study of Adolescent Health, we estimate the heritability of leadership role occupancy at 24%. Twin studies do not point to specific genes or neurological processes that might be involved. We therefore also conduct association analysis on the available genetic markers. The results show that leadership role occupancy is associated with rs4950, a single nucleotide polymorphism (SNP) residing on a neuronal acetylcholine receptor gene (CHRNB3). We replicate this family-based genetic association result on an independent sample in the Framingham Heart Study. This is the first study to identify a specific genotype associated with the tendency to occupy a leadership position. The results suggest that what determines whether an individual occupies a leadership position is the complex product of genetic and environmental influences; with a particular role for rs4950. PMID:23459689

  15. Specificity of Genetic Biomarker Studies in Cancer Research: A Systematic Review

    PubMed Central

    Carmona, Ruben; Zakeri, Kaveh; Lee, Chih-Han; Borgan, Saif; Marhoon, Zaid; Sharabi, Andrew; Mell, Loren K.

    2016-01-01

    As genetic information becomes more readily available, there is increasing demand from both patients and providers to develop personalized approaches to cancer care. Investigators are increasingly reporting numbers of studies correlating genomic signatures and other biomarkers to survival endpoints. The extent to which cancer-specific and non-specific effects are reported in contemporary studies is unknown. In this review of 85 high-impact studies associating genetic biomarkers with cancer outcomes, 95% reported significant associations with event-free survival outcomes, yet less than half reported effects on a cancer-specific endpoint. This methodology leaves open the possibility that observed associations are unrelated to cancer. PMID:27383192

  16. Genetically informative designs in the study of resilience in developmental psychopathology.

    PubMed

    Bartels, Meike; Hudziak, James J

    2007-04-01

    The study of resilience, defined here as the ability to recover from a prior illness or the capacity to remain well in the face of extraordinary genetic or environmental risk factors, is the focus of this article. We believe that to study resilience in the domain of developmental psychopathology it is necessary to use genetically informative strategies. Extending this argument to the study of resilience (eg, why some kids recover) is the focus of last part this article and our research strategies in the next decade. PMID:17349511

  17. The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

    PubMed

    Stokman, Marijn F; Renkema, Kirsten Y; Giles, Rachel H; Schaefer, Franz; Knoers, Nine V A M; van Eerde, Albertien M

    2016-08-01

    Next-generation sequencing (NGS) has led to the identification of previously unrecognized phenotypes associated with classic kidney disease genes. In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question of whether disease diagnoses should be made on clinical grounds, on genetic evidence or a combination thereof. Here, we discuss the major kidney disease-associated genes and gene categories for which NGS has expanded the phenotypic spectrum. For example, COL4A3-5 genes, which are classically associated with Alport syndrome, are now understood to also be involved in the aetiology of focal segmental glomerulosclerosis. DGKE, which is associated with nephrotic syndrome, is also mutated in patients with atypical haemolytic uraemic syndrome. We examine how a shared genetic background between diverse clinical phenotypes can provide insight into the function of genes and novel links with essential pathophysiological mechanisms. In addition, we consider genetic and epigenetic factors that contribute to the observed phenotypic heterogeneity of kidney diseases and discuss the challenges in the interpretation of genetic data. Finally, we discuss the implications of the expanding phenotypic spectra associated with kidney disease genes for clinical practice, genetic counselling and personalized care, and present our recommendations for the use of NGS-based tests in routine nephrology practice. PMID:27374918

  18. The Long and Short of Genetic Counseling Summary Letters: A Case-control Study.

    PubMed

    Roggenbuck, J; Temme, R; Pond, D; Baker, J; Jarvis, K; Liu, M; Dugan, S; Mendelsohn, N J

    2015-08-01

    Genetic counseling summary letters are intended to reinforce information received during genetic counseling, but little information is available on patient/family responses to these letters. We conducted a case-control study to assess the effectiveness of two different letter formats. Parents of children receiving a new diagnosis were enrolled. The control group (n = 85) received a genetic counseling summary letter in a narrative format, 4-5 pages in length. After the control enrollment period, genetic counselors were trained by a professional medical writer to develop a concise letter format. The case group (n = 64) received a concise letter, approximately 1.5 pages in length, utilizing simple sentences, lay terms, and lists/bullet points. Parents completed a survey 4 weeks after the visit to rate the letter's format, usefulness, and their emotional reaction. Results show that parents in the case group rated the letter more highly (p = 0.023), particularly in the emotional response dimension (rating changes in anxiety, depression, fear, ability to cope, and confidence in response to the letter). Parents in the case group also rated the genetic counseling session more highly (p = 0.039). In the control group, parents without a college degree were more likely to rate the letter as too long and the level of medical detail as too high. In the case group, no significant differences were seen between parents with or without a college degree. These data suggest that a short genetic counseling summary letter is rated higher by parents, and is particularly associated with a more positive emotional reaction. A short letter format highlighting the basic facts related to the genetic condition may be more useful to parents of diverse educational backgrounds, and may support a positive emotional adaptation at the time of a new diagnosis. Genetic counselors may benefit from specific instruction in medical and educational writing. PMID:25502223

  19. Genetic and Functional Studies of the Intervertebral Disc: A Novel Murine Intervertebral Disc Model

    PubMed Central

    Pelle, Dominic W.; Peacock, Jacqueline D.; Schmidt, Courtney L.; Kampfschulte, Kevin; Scholten, Donald J.; Russo, Scott S.; Easton, Kenneth J.; Steensma, Matthew R.

    2014-01-01

    Intervertebral disc (IVD) homeostasis is mediated through a combination of micro-environmental and biomechanical factors, all of which are subject to genetic influences. The aim of this study is to develop and characterize a genetically tractable, ex vivo organ culture model that can be used to further elucidate mechanisms of intervertebral disc disease. Specifically, we demonstrate that IVD disc explants (1) maintain their native phenotype in prolonged culture, (2) are responsive to exogenous stimuli, and (3) that relevant homeostatic regulatory mechanisms can be modulated through ex-vivo genetic recombination. We present a novel technique for isolation of murine IVD explants with demonstration of explant viability (CMFDA/propidium iodide staining), disc anatomy (H&E), maintenance of extracellular matrix (ECM) (Alcian Blue staining), and native expression profile (qRT-PCR) as well as ex vivo genetic recombination (mT/mG reporter mice; AdCre) following 14 days of culture in DMEM media containing 10% fetal bovine serum, 1% L-glutamine, and 1% penicillin/streptomycin. IVD explants maintained their micro-anatomic integrity, ECM proteoglycan content, viability, and gene expression profile consistent with a homeostatic drive in culture. Treatment of genetically engineered explants with cre-expressing adenovirus efficaciously induced ex vivo genetic recombination in a variety of genetically engineered mouse models. Exogenous administration of IL-1ß and TGF-ß3 resulted in predicted catabolic and anabolic responses, respectively. Genetic recombination of TGFBR1fl/fl explants resulted in constitutively active TGF-ß signaling that matched that of exogenously administered TGF-ß3. Our results illustrate the utility of the murine intervertebral disc explant to investigate mechanisms of intervertebral disc degeneration. PMID:25474689

  20. A behavioral-genetic study of alexithymia and its relationships with trait emotional intelligence.

    PubMed

    Baughman, Holly M; Schwartz, Sara; Schermer, Julie Aitken; Veselka, Livia; Petrides, K V; Vernon, Philip A

    2011-12-01

    The present study is the first to examine relationships between alexithymia and trait emotional intelligence (trait El or trait emotional self-efficacy) at the phenotypic, genetic, and environmental levels. The study was also conducted to resolve inconsistencies in previous twin studies that have provided estimates of the extent to which genetic and environmental factors contribute to individual differences in alexithymia. Participants were 216 monozygotic and 45 dizygotic same-sex twin pairs who completed the Toronto Alexithymia Scale-20. In a pilot study, a sub-sample of 118 MZ and 27 DZ pairs also completed the Trait Emotional Intelligence Questionnaire. Results demonstrated that a combination of genetic and non-shared environmental influences contribute to individual differences in alexithymia. As expected, alexithymia and trait El were negatively correlated at the phenotypic level. Bivariate behavioral genetic analyses showed that that all but one of these correlations was primarily attributable to correlated genetic factors and secondarily to correlated non-shared environmental factors. PMID:22506309

  1. Common psychiatric disorders share the same genetic origin: a multivariate sibling study of the Swedish population.

    PubMed

    Pettersson, E; Larsson, H; Lichtenstein, P

    2016-05-01

    Recent studies have shown that different mental-health problems appear to be partly influenced by the same set of genes, which can be summarized by a general genetic factor. To date, such studies have relied on surveys of community-based samples, which could introduce potential biases. The goal of this study was to examine whether a general genetic factor would still emerge when based on a different ascertainment method with different biases from previous studies. We targeted all adults in Sweden (n=3 475 112) using national registers and identified those who had received one or more psychiatric diagnoses after seeking or being forced into mental health care. In order to examine the genetic versus environmental etiology of the general factor, we examined whether participants' full- or half-siblings had also received diagnoses. We focused on eight major psychiatric disorders based on the International Classification of Diseases, including schizophrenia, schizoaffective disorder, bipolar disorder, depression, anxiety, attention-deficit/hyperactivity disorder, alcohol use disorder and drug abuse. In addition, we included convictions of violent crimes. Multivariate analyses demonstrated that a general genetic factor influenced all disorders and convictions of violent crimes, accounting for between 10% (attention-deficit/hyperactivity disorder) and 36% (drug abuse) of the variance of the conditions. Thus, a general genetic factor of psychopathology emerges when based on both surveys as well as national registers, indicating that a set of pleiotropic genes influence a variety of psychiatric disorders. PMID:26303662

  2. Study of Genetic Diversity among Simmental Cross Cattle in West Sumatra Based on Microsatellite Markers

    PubMed Central

    Agung, Paskah Partogi; Saputra, Ferdy; Septian, Wike Andre; Lusiana; Zein, Moch. Syamsul Arifin; Sulandari, Sri; Anwar, Saiful; Wulandari, Ari Sulistyo; Said, Syahruddin; Tappa, Baharuddin

    2016-01-01

    A study was conducted to assess the genetic diversity among Simmental Cross cattle in West Sumatra using microsatellite DNA markers. A total of 176 individual cattle blood samples was used for obtaining DNA samples. Twelve primers of microsatellite loci as recommended by FAO were used to identify the genetic diversity of the Simmental Cross cattle population. Multiplex DNA fragment analysis method was used for allele identification. All the microsatellite loci in this study were highly polymorphic and all of the identified alleles were able to classify the cattle population into several groups based on their genetic distance. The heterozygosity values of microsatellite loci in this study ranged from 0.556 to 0.782. The polymorphism information content (PIC) value of the 12 observed loci is high (PIC>0.5). The highest PIC value in the Simmental cattle population was 0.893 (locus TGLA53), while the lowest value was 0.529 (locus BM1818). Based on the genetic distance value, the subpopulation of the Simmental Cross-Agam and the Simmental Cross-Limapuluh Kota was exceptionally close to the Simmental Purebred thus indicating that a grading-up process has taken place with the Simmental Purebred. In view of the advantages possessed by the Simmental Cross cattle and the evaluation of the genetic diversity results, a number of subpopulations in this study can be considered as the initial (base) population for the Simmental Cross cattle breeding programs in West Sumatra, Indonesia. PMID:26732442

  3. Study of Genetic Diversity among Simmental Cross Cattle in West Sumatra Based on Microsatellite Markers.

    PubMed

    Agung, Paskah Partogi; Saputra, Ferdy; Septian, Wike Andre; Lusiana; Zein, Moch Syamsul Arifin; Sulandari, Sri; Anwar, Saiful; Wulandari, Ari Sulistyo; Said, Syahruddin; Tappa, Baharuddin

    2016-02-01

    A study was conducted to assess the genetic diversity among Simmental Cross cattle in West Sumatra using microsatellite DNA markers. A total of 176 individual cattle blood samples was used for obtaining DNA samples. Twelve primers of microsatellite loci as recommended by FAO were used to identify the genetic diversity of the Simmental Cross cattle population. Multiplex DNA fragment analysis method was used for allele identification. All the microsatellite loci in this study were highly polymorphic and all of the identified alleles were able to classify the cattle population into several groups based on their genetic distance. The heterozygosity values of microsatellite loci in this study ranged from 0.556 to 0.782. The polymorphism information content (PIC) value of the 12 observed loci is high (PIC>0.5). The highest PIC value in the Simmental cattle population was 0.893 (locus TGLA53), while the lowest value was 0.529 (locus BM1818). Based on the genetic distance value, the subpopulation of the Simmental Cross-Agam and the Simmental Cross-Limapuluh Kota was exceptionally close to the Simmental Purebred thus indicating that a grading-up process has taken place with the Simmental Purebred. In view of the advantages possessed by the Simmental Cross cattle and the evaluation of the genetic diversity results, a number of subpopulations in this study can be considered as the initial (base) population for the Simmental Cross cattle breeding programs in West Sumatra, Indonesia. PMID:26732442

  4. Lewis Terman: Genetic Study of Genius--Elementary School Students

    ERIC Educational Resources Information Center

    Jolly, Jennifer L.

    2008-01-01

    Although the field of gifted education generally recognizes the foundational work of Lewis Terman, rarely does one stop to examine the details of his longitudinal study and their connection to present-day gifted education. This article reexamines the beginnings of Terman's longitudinal study with a focus on elementary-school-aged children.…

  5. A STANDARD GENETIC STOCK OF RAINBOW TROUT FOR RESEARCH STUDIES

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The diversity of aquaculture species defies a united front to the scientific advancement of studies for these species as each is in a different phase of development. However as has been witnessed in research studies utilizing both terrestrial and aquaculture species, discrepancies in experimental re...

  6. Exogenous Visual Orienting Is Associated with Specific Neurotransmitter Genetic Markers: A Population-Based Genetic Association Study

    PubMed Central

    Lundwall, Rebecca A.; Guo, Dong-Chuan; Dannemiller, James L.

    2012-01-01

    Background Currently, there is a sense that the spatial orienting of attention is related to genotypic variations in cholinergic genes but not to variations in dopaminergic genes. However, reexamination of associations with both cholinergic and dopaminergic genes is warranted because previous studies used endogenous rather than exogenous cues and costs and benefits were not analyzed separately. Examining costs (increases in response time following an invalid pre-cue) and benefits (decreases in response time following a valid pre-cue) separately could be important if dopaminergic genes (implicated in disorders such as attention deficit disorder) independently influence the different processes of orienting (e.g., disengage, move, engage). Methodology/Principal Findings We tested normal subjects (N = 161) between 18 and 61 years. Participants completed a computer task in which pre-cues preceded the presence of a target. Subjects responded (with a key press) to the location of the target (right versus left of fixation). The cues could be valid (i.e., appear where the target would appear) or invalid (appear contralateral to where the target would appear). DNA sequencing assays were performed on buccal cells to genotype known genetic markers and these were examined for association with task scores. Here we show significant associations between visual orienting and genetic markers (on COMT, DAT1, and APOE; R2s from 4% to 9%). Conclusions/Significance One measure in particular – the response time cost of a single dim, invalid cue – was associated with dopaminergic markers on COMT and DAT1. Additionally, variations of APOE genotypes based on the ε2/ε3/ε4 alleles were also associated with response time differences produced by simultaneous cues with unequal luminances. We conclude that individual differences in visual orienting are related to several dopaminergic markers as well as to a cholinergic marker. These results challenge the view that orienting is not

  7. Simulating gas and particulate pollution over the Middle East and the state of Qatar using a 3-D regional air quality modeling system

    NASA Astrophysics Data System (ADS)

    Fountoukis, Christos; Gladich, Ivan; Ayoub, Mohammed; Kais, Sabre; Ackermann, Luis; Skillern, Adam

    2016-04-01

    The rapid urbanization, industrialization and economic expansion in the Middle East have led to increased levels of atmospheric pollution with important implications for human health and climate. We applied the online-coupled meteorological and chemical transport Weather Research and Forecasting/Chemistry (WRF-Chem) model over the Middle Eastern domain, to simulate the concentration of gas and aerosols with a special focus over the state of Qatar. WRF-Chem was set to simulate pollutant concentrations along with the meteorology-chemistry interactions through the related direct, indirect and semi-direct feedback mechanisms. A triple-nested domain configuration was used with a high grid resolution (1x1 km2) over the region of Qatar. Model predictions are evaluated against intensive measurements of meteorological parameters (temperature, relative humidity and wind speed) as well as ozone and particulate matter taken from various measurement stations throughout Doha, Qatar during summer 2015. The ability of the model to capture the temporal and spatial variability of the observations is assessed and possible reasons for the model bias are explored through sensitivity tests. Emissions of both fine and coarse mode particles from construction activities in large urban Middle Eastern environments comprise a major pollution source that is unaccounted for in emission inventories used so far in large scale models for this part of the world.

  8. Studying the Genetic Basis of Kidney Cancer - TCGA

    Cancer.gov

    Dr. Marston Linehan, NCI's Chief of Urologic Surgery, has spent the last several decades studying kidney cancer genes and treating kidney cancer patients. Learn more about his experience as a kidney cancer physician scientist and TCGA contributor in this

  9. Application of computational methods in genetic study of inflammatory bowel disease

    PubMed Central

    Li, Jin; Wei, Zhi; Hakonarson, Hakon

    2016-01-01

    Genetic factors play an important role in the etiology of inflammatory bowel disease (IBD). The launch of genome-wide association study (GWAS) represents a landmark in the genetic study of human complex disease. Concurrently, computational methods have undergone rapid development during the past a few years, which led to the identification of numerous disease susceptibility loci. IBD is one of the successful examples of GWAS and related analyses. A total of 163 genetic loci and multiple signaling pathways have been identified to be associated with IBD. Pleiotropic effects were found for many of these loci; and risk prediction models were built based on a broad spectrum of genetic variants. Important gene-gene, gene-environment interactions and key contributions of gut microbiome are being discovered. Here we will review the different types of analyses that have been applied to IBD genetic study, discuss the computational methods for each type of analysis, and summarize the discoveries made in IBD research with the application of these methods. PMID:26811639

  10. Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia

    PubMed Central

    Sherborne, Amy L.; Hemminki, Kari; Kumar, Rajiv; Bartram, Claus R.; Stanulla, Martin; Schrappe, Martin; Petridou, Eleni; Semsei, Ágnes F.; Szalai, Csaba; Sinnett, Daniel; Krajinovic, Maja; Healy, Jasmine; Lanciotti, Marina; Dufour, Carlo; Indaco, Stefania; El-Ghouroury, Eman A; Sawangpanich, Ruchchadol; Hongeng, Suradej; Pakakasama, Samart; Gonzalez-Neira, Anna; Ugarte, Evelia L.; Leal, Valeria P.; Espinoza, Juan P.M.; Kamel, Azza M.; Ebid, Gamal T.A.; Radwan, Eman R.; Yalin, Serap; Yalin, Erdinc; Berkoz, Mehmet; Simpson, Jill; Roman, Eve; Lightfoot, Tracy; Hosking, Fay J.; Vijayakrishnan, Jayaram; Greaves, Mel; Houlston, Richard S.

    2011-01-01

    Acute lymphoblastic leukemia is the major pediatric cancer in developed countries. To date most association studies of acute lymphoblastic leukemia have been based on the candidate gene approach and have evaluated a restricted number of polymorphisms. Such studies have served to highlight difficulties in conducting statistically and methodologically rigorous investigations into acute lymphoblastic leukemia risk. Recent genome-wide association studies of childhood acute lymphoblastic leukemia have provided robust evidence that common variation at four genetic loci confers a modest increase in risk. The accumulated experience to date and relative lack of success of initial efforts to identify novel acute lymphoblastic leukemia predisposition loci emphasize the need for alternative study designs and methods. The International Childhood Acute Lymphoblastic Leukaemia Genetics Consortium includes 12 research groups in Europe, Asia, the Middle East and the Americas engaged in studying the genetics of acute lymphoblastic leukemia. The initial goal of this consortium is to identify and characterize low-penetrance susceptibility variants for acute lymphoblastic leukemia through association-based analyses. Efforts to develop genome-wide association studies of acute lymphoblastic leukemia, in terms of both sample size and single nucleotide polymorphism coverage, and to increase the number of single nucleotide polymorphisms taken forward to large-scale replication should lead to the identification of additional novel risk variants for acute lymphoblastic leukemia. Ethnic differences in the risk of acute lymphoblastic leukemia are well recognized and thus in assessing the interplay between inherited and non-genetic risk factors, analyses using different population cohorts with different incidence rates are likely to be highly informative. Given that the frequency of many acute lymphoblastic leukemia subgroups is small, identifying differential effects will realistically only be

  11. Genetic and Environmental Influences on Pubertal Timing: Results from Two National Sibling Studies

    ERIC Educational Resources Information Center

    Ge, Xiaojia; Natsuaki, Misaki N.; Neiderhiser, Jenae M.; Reiss, David

    2007-01-01

    This study examined genetic and environmental effects on individual variation in pubertal timing using two national samples of siblings from the Nonshared Environment of Adolescent Development (NEAD) and the National Longitudinal Study of Adolescent Health (Add Health). In each sample, female and male siblings with different degrees of genetic…

  12. Evaluation of the Endorsement of the STrengthening the REporting of Genetic Association Studies (STREGA) Statement on the Reporting Quality of Published Genetic Association Studies

    PubMed Central

    Nedovic, Darko; Panic, Nikola; Pastorino, Roberta; Ricciardi, Walter; Boccia, Stefania

    2016-01-01

    The STrengthening the REporting of Genetic Association studies (STREGA) statement was based on the STrengthening the REporting of OBservational studies in Epidemiology (STROBE) statement, and it was published in 2009 in order to improve the reporting of genetic association (GA) studies. Our aim was to evaluate the impact of STREGA endorsement on the quality of reporting of GA studies published in journals in the field of genetics and heredity (GH). Quality of reporting was evaluated by assessing the adherence of papers to the STREGA checklist. After identifying the GH journals that endorsed STREGA in their instructions for authors, we randomly appraised papers published in 2013 from journals endorsing STREGA that published GA studies (Group A); in GH journals that never endorsed STREGA (Group B); in GH journals endorsing STREGA, but in the year preceding its endorsement (Group C); and in the same time period as Group C from GH journals that never endorsed STREGA (Group D). The STREGA statement was referenced in 29 (18.1%) of 160 GH journals, of which 18 (62.1%) journals published GA studies. Among the 18 journals endorsing STREGA, we found a significant increase in the overall adherence to the STREGA checklist over time (A vs C; P < 0.0001). Adherence to the STREGA checklist was significantly higher in journals endorsing STREGA compared to those that did not endorse the statement (A vs B; P = 0.04). No significant improvement was detected in the adherence to STREGA items in journals not endorsing STREGA over time (B vs D; P > 0.05). The endorsement of STREGA resulted in an increase in quality of reporting of GA studies over time, while no similar improvement was reported for journals that never endorsed STREGA. PMID:27349199

  13. [Studies of the repair of radiation-induced genetic damage in Drosophila]. Final progress report

    SciTech Connect

    Hawley, R.S.

    1998-11-01

    This research focuses on the structure of the mei-41 gene and elucidation of the role the mei-41 gene product plays in both recombination and repair. Genetic and molecular studies are continuing on the mus308 locus and the mus312 and mei-9 genes. The author views mus312 as a very likely candidate for a gene required for both chromosome pairing/synopsis and for double strand break repair. A thorough genetic study has been initiated of this locus and of the cytology of the meiotic and mitotic defects of mutations at this locus.

  14. Genetic predictors of exercise adherence in the Tiger study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Obesity established in adolescence strongly predicts obesity for the remainder of adult life, suggesting this is a critical time in which to establish healthy diet and physical activity behaviors. Many studies have reported low levels of habitual activity among this age group, however. We hypothesiz...

  15. Genetics of schizophrenia and smoking: an approach to studying their comorbidity based on epidemiological findings

    PubMed Central

    de Leon, Jose; Diaz, Francisco J.

    2012-01-01

    The association between schizophrenia and tobacco smoking has been described in more than 1,000 articles, many with inadequate methodology. The studies on this association can focus on: (1) current smoking, ever smoking or smoking cessation; (2) non-psychiatric controls or controls with severe mental illness (e.g., bipolar disorder); and (3) higher smoking frequency or greater usage in smokers. The association with the most potential for genetic studies is that between ever daily smoking and schizophrenia; it may reflect a shared genetic vulnerability. To reduce the number of false-positive genes, we propose a three-stage approach derived from epidemiological knowledge. In the first stage, only genetic variations associated with ever daily smoking that are simultaneously significant within the non-psychiatric controls, the bipolar disorder controls and the schizophrenia cases will be selected. Only those genetic variations that are simultaneously significant in the three hypothesis tests will be tested in the second stage, where the prevalence of the genes must be significantly higher in schizophrenia than in bipolar disorder, and significantly higher in bipolar disorder than in controls. The genes simultaneously significant in the second stage will be included in a third stage where the gene variations must be significantly more frequent in schizophrenia patients who did not start smoking daily until their 20s (late start) versus those who had an early start. Any genetic approach to psychiatric disorders may fail if attention is not given to comorbidity and epidemiological studies that suggest which comorbidities are likely to be explained by genetics and which are not. Our approach, which examines the results of epidemiological studies on comorbidities and then looks for genes that simultaneously satisfy epidemiologically suggested sets of hypotheses, may also apply to the study of other major illnesses. PMID:22190153

  16. Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

    PubMed Central

    Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

    2014-01-01

    Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

  17. Parents’ experiences of receiving their child’s genetic diagnosis: A qualitative study to inform clinical genetics practice

    PubMed Central

    Ashtiani, Setareh; Makela, Nancy; Carrion, Prescilla; Austin, Jehannine

    2014-01-01

    Purpose Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis. Methods We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child’s genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis, and the transcribed interviews were coded and sorted, and thematic categories identified. Results 61.5% of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow-up plans, and messages of hope and perspective during the session seemed to positively influence parents’ experience, while feeling that their role was as a passive receiver of information and using difficult medical terminology negatively influenced parents’ overall experience. Parental preparedness for the information, and the parents’ emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor. Conclusion Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session. PMID:24706543

  18. Medical genetics, public understanding and patient experiences: An exploratory qualitative study of recently pregnant women

    NASA Astrophysics Data System (ADS)

    Garman, Jamie L.

    The purpose of the study was to document how individuals' experiences and understanding of genetics concepts affects their medical experiences. Recently pregnant women were interviewed because they represent a population that needs to comprehend biological and genetic information to understand their health. Three women were designated as science experts (SE) defined as having extensive university level science education and three women were designated as science non-experts (SNE). In general, SEs described a more positive pregnancy experience. Both SEs and SNEs demonstrated a basic understanding of genetic concepts but varied in the application of concepts to personal medical issues. Participants' views and experiences of pre and postnatal tests were linked to their understanding of nature of science components such as recognition that tests have limitations. Results from this study indicate an incomplete understanding of the nature of science among participants may have led to unsatisfactory medical experiences.

  19. Genetic impact dominates over environmental effects in development of carotid artery stiffness: a twin study.

    PubMed

    Horváth, Tamás; Osztovits, János; Pintér, Alexandra; Littvay, Levente; Cseh, Domonkos; Tárnoki, Adám D; Tárnoki, Dávid L; Jermendy, Adám L; Steinbach, Rita; Métneki, Júlia; Schillaci, Giuseppe; Kollai, Márk; Jermendy, György

    2014-01-01

    Arterial stiffness is an independent predictor of cardiovascular, cerebrovascular and all-cause mortality. Quantifying the genetic influence on the stiff arterial phenotype allows us to better predict the development of arterial stiffness. In this study, we aimed to determine the heritability of carotid artery stiffness in healthy twins. We studied 98 twin pairs of both sexes. We determined carotid artery stiffness locally using echo tracking and applanation tonometry. We estimated the heritability of stiffness parameters using structural equation modeling. The carotid distensibility coefficient showed the highest heritability (64%, 95% confidence interval 45-77%). The incremental elastic modulus, compliance and stiffness index β also showed substantial heritability (62%, 61% and 58%, respectively). The remaining 36-42% phenotypic variance was attributed to unshared environmental effects. Genetic influence appears to dominate over environmental factors in the development of carotid artery stiffness. Environmental factors may have an important role in favorably influencing the genetic predisposition for accelerated arterial stiffening. PMID:24089266

  20. Behavioral Genetic Contributions to the Study of Addiction-Related Amphetamine Effects

    PubMed Central

    Phillips, Tamara J.; Kamens, Helen M.; Wheeler, Jeanna M.

    2008-01-01

    Amphetamines, including methamphetamine, pose a significant cost to society due to significant numbers of amphetamine-abusing individuals who suffer major health-related consequences. In addition, methamphetamine use is associated with heightened rates of violent and property-related crimes. The current paper reviews the existing literature addressing genetic differences in mice that impact behavioral responses thought to be relevant to the abuse of amphetamine and amphetamine-like drugs. Summarized are studies that used inbred strains, selected lines, single gene knockouts and transgenics, and quantitative trait locus (QTL) mapping populations. Acute sensitivity, neuroadaptive responses, rewarding and conditioned effects are among those reviewed. Some gene mapping work has been accomplished, and although no amphetamine-related complex trait genes have been definitively identified, translational work leading from results in the mouse to studies performed in humans is beginning to emerge. The majority of genetic investigations has utilized single-gene knockout mice and has concentrated on dopamine- and glutamate-related genes. Genes that code for cell support and signaling molecules are also well-represented. There is a large behavioral genetic literature on responsiveness to amphetamines, but a considerably smaller literature focused on genes that influence the development and acceleration of amphetamine use, withdrawal, relapse, and behavioral toxicity. Also missing are genetic investigations into the effects of amphetamines on social behaviors. This information might help to identify at-risk individuals and in the future to develop treatments that take advantage of individualized genetic information. PMID:18207241

  1. A Genetically Informed Study of Associations between Family Functioning and Child Psychosocial Adjustment

    PubMed Central

    Schermerhorn, Alice C.; D’Onofrio, Brian M.; Turkheimer, Eric; Ganiban, Jody M.; Spotts, Erica L.; Lichtenstein, Paul; Reiss, David; Neiderhiser, Jenae M.

    2010-01-01

    Research has documented associations between family functioning and offspring psychosocial adjustment, but questions remain regarding whether these associations are partly due to confounding genetic factors and other environmental factors. The current study used a genetically informed approach, the Children of Twins design, to explore the associations between family functioning (family conflict, marital quality, and agreement about parenting) and offspring psychopathology. Participants were 867 twin pairs (388 MZ; 479 DZ) from the Twin and Offspring Study in Sweden (TOSS), their spouses, and children (51.7% female; M = 15.75 years). The results suggested associations between exposure to family conflict (assessed by the mother, father, and child) and child adjustment were independent of genetic factors and other environmental factors. However, when family conflict was assessed using only children’s reports, the results indicated that genetic factors also influenced these associations. In addition, the analyses indicated that exposure to low marital quality and agreement about parenting was associated with children’s internalizing and externalizing problems, and that genetic factors also contributed to the associations of marital quality and agreement about parenting with offspring externalizing problems. PMID:21142367

  2. Development of 10 microsatellite markers from Pantala flavescens and their applicability in studying genetics diversity.

    PubMed

    Cao, Lingzhen; Fu, Xiaowei; Wu, Kongming

    2015-08-01

    Pantala flavescens (Fabricius 1798) is one of the most common species among migration dragonflies. It is often encountered in large swarms during migration or directed dispersal flights. For a better understanding of its gene flow, genetic structure and migration patterns throughout the world, 10 polymorphic microsatellite markers were isolated in this study. We respectively collected 32 P. flavescens from three places (Hunan, Liaoning and Heilongjiang) and 20 P. flavescens from Beijing. Partial genomic libraries containing microsatellite sequences were constructed with magnetic-bead enrichment method. By screening, sequence analysis, PCR amplification and so on, ten 10 polymorphic microsatellite markers were isolated. In order to assess their applicability, genetic diversity of these novel markers was tested in 96 individuals from three populations in China (Hunan, Liaoning and Heilongjiang). These markers were highly polymorphic, with 3-12 alleles per markers. The observed (Ho) and expected (He) heterozygosities ranged 0.321-0.667 and from 0.531 to 0.948 respectively. The genetic difference between Hunan and Liaoning is 0.429, while the genetic difference between Liaoning and Heilongjiang is 0.0508. These microsatellite markers for P. flavescens were developed for the first time, and will be a powerful tool for studying population genetic diversity and dispersal behavior of P. flavescens in China and worldwide. PMID:25788247

  3. A biochemical and genetic study of Leishmania donovani pyruvate kinase.

    PubMed

    Sandoval, Will; Isea, Raúl; Rodriguez, Evelyn; Ramirez, Jose Luis

    2008-11-15

    Here we present a biochemical and molecular biology study of the enzyme pyruvate kinase (PYK) from the parasitic protozoa Leishmania donovani. The PYK gene was cloned, mutagenised and over expressed and its kinetic parameters determined. Like in other kinetoplastids, L. donovani PYK is allosterically stimulated by the effector fructose 2,6 biphosphate and not by fructose 1,6 biphosphate. When the putative effector binding site of L. donovani PYK was mutagenised, we obtained two mutants with extreme kinetic behavior: Lys453Leu, which retained a sigmoidal kinetics and was little affected by the effector; and His480Gln, which deployed a hyperbolic kinetics that was not changed by the addition of the effector. Molecular Dynamics (MD) studies revealed that the mutations not only altered the effector binding site of L. donovani PYK but also changed the folding of its domain C. PMID:18725273

  4. A targeted genetic association study of epithelial ovarian cancer susceptibility

    PubMed Central

    Earp, Madalene; Winham, Stacey J.; Larson, Nicholas; Permuth, Jennifer B.; Sicotte, Hugues; Chien, Jeremy; Anton-Culver, Hoda; Bandera, Elisa V.; Berchuck, Andrew; Cook, Linda S.; Cramer, Daniel; Doherty, Jennifer A.; Goodman, Marc T.; Levine, Douglas A.; Monteiro, Alvaro N.A.; Ness, Roberta B.; Pearce, Celeste L.; Rossing, Mary Anne; Tworoger, Shelley S.; Wentzensen, Nicolas; Bisogna, Maria; Brinton, Louise; Brooks-Wilson, Angela; Carney, Michael E.; Cunningham, Julie M.; Edwards, Robert P.; Fogarty, Zachary C.; Iversen, Edwin S.; Kraft, Peter; Larson, Melissa C.; Le, Nhu D.; Lin, Hui-Yi; Lissowska, Jolanta; Modugno, Francesmary; Moysich, Kirsten B.; Olson, Sara H.; Pike, Malcolm C.; Poole, Elizabeth M.; Rider, David N.; Terry, Kathryn L.; Thompson, Pamela J.; van den Berg, David; Vierkant, Robert A.; Vitonis, Allison F.; Wilkens, Lynne R.; Wu, Anna H.; Yang, Hannah P.; Ziogas, Argyrios; Phelan, Catherine M.; Schildkraut, Joellen M.; Chen, Yian Ann; Sellers, Thomas A.; Fridley, Brooke L.; Goode, Ellen L.

    2016-01-01

    Background Genome-wide association studies have identified several common susceptibility alleles for epithelial ovarian cancer (EOC). To further understand EOC susceptibility, we examined previously ungenotyped candidate variants, including uncommon variants and those residing within known susceptibility loci. Results At nine of eleven previously published EOC susceptibility regions (2q31, 3q25, 5p15, 8q21, 8q24, 10p12, 17q12, 17q21.31, and 19p13), novel variants were identified that were more strongly associated with risk than previously reported variants. Beyond known susceptibility regions, no variants were found to be associated with EOC risk at genome-wide statistical significance (p <5×10−8), nor were any significant after Bonferroni correction for 17,000 variants (p< 3×10-6). Methods A customized genotyping array was used to assess over 17,000 variants in coding, non-coding, regulatory, and known susceptibility regions in 4,973 EOC cases and 5,640 controls from 13 independent studies. Susceptibility for EOC overall and for select histotypes was evaluated using logistic regression adjusted for age, study site, and population substructure. Conclusion Given the novel variants identified within the 2q31, 3q25, 5p15, 8q21, 8q24, 10p12, 17q12, 17q21.31, and 19p13 regions, larger follow-up genotyping studies, using imputation where necessary, are needed for fine-mapping and confirmation of low frequency variants that fall below statistical significance. PMID:26848776

  5. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

    PubMed

    Halbach, Nicky; Smeets, Eric E; Julu, Peter; Witt-Engerström, Ingegerd; Pini, Giorgio; Bigoni, Stefania; Hansen, Stig; Apartopoulos, Flora; Delamont, Robert; van Roozendaal, Kees; Scusa, Maria F; Borelli, Paolo; Candel, Math; Curfs, Leopold

    2016-09-01

    Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well-defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype-phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non-invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence-based management in RTT. © 2016 Wiley Periodicals, Inc. PMID:27354166

  6. The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

    PubMed Central

    Pattaro, Cristian; Marroni, Fabio; Riegler, Alice; Mascalzoni, Deborah; Pichler, Irene; Volpato, Claudia B; Dal Cero, Umberta; De Grandi, Alessandro; Egger, Clemens; Eisendle, Agatha; Fuchsberger, Christian; Gögele, Martin; Pedrotti, Sara; Pinggera, Gerd K; Stefanov, Stefan A; Vogl, Florian D; Wiedermann, Christian J; Meitinger, Thomas; Pramstaller, Peter P

    2007-01-01

    Background There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the northern most Italian region, includes several villages of small dimensions which remained isolated over the centuries. Methods The MICROS study is a population-based survey on three small, isolated villages, characterized by: old settlement; small number of founders; high endogamy rates; slow/null population expansion. During the stage-1 (2002/03) genealogical data, screening questionnaires, clinical measurements, blood and urine samples, and DNA were collected for 1175 adult volunteers. Stage-2, concerning trait diagnoses, linkage analysis and association studies, is ongoing. The selection of the traits is being driven by expert clinicians. Preliminary, descriptive statistics were obtained. Power simulations for finding linkage on a quantitative trait locus (QTL) were undertaken. Results Starting from participants, genealogies were reconstructed for 50,037 subjects, going back to the early 1600s. Within the last five generations, subjects were clustered in one pedigree of 7049 subjects plus 178 smaller pedigrees (3 to 85 subjects each). A significant probability of familial clustering was assessed for many traits, especially among the cardiovascular, neurological and respiratory traits. Simulations showed that the MICROS pedigree has a substantial power to detect a LOD score ≥ 3 when the QTL specific heritability is ≥ 20%. Conclusion The MICROS study is an extensive, ongoing, two-stage survey aimed at characterizing the genetic epidemiology of Mendelian and complex diseases. Our approach, involving different scientific disciplines, is an advantageous strategy to define and to study population isolates. The isolation of the Alpine populations, together with the extensive data collected so far, make the MICROS study a powerful resource for the study

  7. The Utility of Breastmilk for Genetic or Genomic Studies: A Systematic Review

    PubMed Central

    Conley, Yvette P.

    2013-01-01

    Abstract This study synthesized scientific literature that applies genetic or genomic approaches to breastmilk. A literature search of PubMed was conducted in March 2012 using the key words "breast milk," "lactation," "genetic," "gene expression," and "epigenetic." Additional articles were identified/selected for evaluation with MeSH term searches, and a review of article reference lists was obtained from the search. The initial 657 abstracts retrieved from the literature search were reviewed, and 16 studies were selected for evaluation. Studies that examined the transmission of viruses/bacteria into breastmilk and/or measured concentration of specific proteins without examination of genetic material from milk were excluded. Data related to subjects, tissue, purpose, setting, gene/protein, approach (candidate versus genome-wide), platform, statistical analysis, and results were extracted. Gene expression and epigenetic/epigenomic study designs have been successfully implemented using breastmilk. A major weakness of both gene expression studies and epigenetic studies that examine breastmilk is the omission of maternal information known to influence milk composition. This review article is the first to synthesize evidence related to the application of breastmilk to evaluate RNA and epigenetic modifications. Additional research is needed that applies epigenetic analyses to human breastmilk samples. Findings from this review can be used for future research designs that use breastmilk for genetic analyses. PMID:23259645

  8. Genetic variants related to height and risk of atrial fibrillation: the cardiovascular health study.

    PubMed

    Rosenberg, Michael A; Kaplan, Robert C; Siscovick, David S; Psaty, Bruce M; Heckbert, Susan R; Newton-Cheh, Christopher; Mukamal, Kenneth J

    2014-07-15

    Increased height is a known independent risk factor for atrial fibrillation (AF). However, whether genetic determinants of height influence risk is uncertain. In this candidate gene study, we examined the association of 209 height-associated single-nucleotide polymorphisms (SNPs) with incident AF in 3,309 persons of European descent from the Cardiovascular Health Study, a prospective cohort study of older adults (aged ≥ 65 years) enrolled in 1989-1990. After a median follow-up period of 13.2 years, 879 participants developed incident AF. The height-associated SNPs together explained approximately 10% of the variation in height (P = 6.0 × 10(-8)). Using an unweighted genetic height score, we found a nonsignificant association with risk of AF (per allele, hazard ratio = 1.01, 95% confidence interval: 1.00, 1.02; P = 0.06). In weighted analyses, we found that genetically predicted height was strongly associated with AF risk (per 10 cm, hazard ratio = 1.30, 95% confidence interval: 1.03, 1.64; P = 0.03). Importantly, for all models, the inclusion of actual height completely attenuated the genetic height effect. Finally, we identified 1 nonsynonymous SNP (rs1046934) that was independently associated with AF and may warrant future study. In conclusion, we found that genetic determinants of height appear to increase the risk of AF, primarily via height itself. This approach of examining SNPs associated with an intermediate phenotype should be considered as a method for identifying novel genetic targets. PMID:24944287

  9. Linguistic, geographic and genetic isolation: a collaborative study of Italian populations.

    PubMed

    Capocasa, Marco; Anagnostou, Paolo; Bachis, Valeria; Battaggia, Cinzia; Bertoncini, Stefania; Biondi, Gianfranco; Boattini, Alessio; Boschi, Ilaria; Brisighelli, Francesca; Caló, Carla Maria; Carta, Marilisa; Coia, Valentina; Corrias, Laura; Crivellaro, Federica; De Fanti, Sara; Dominici, Valentina; Ferri, Gianmarco; Francalacci, Paolo; Franceschi, Zelda Alice; Luiselli, Donata; Morelli, Laura; Paoli, Giorgio; Rickards, Olga; Robledo, Renato; Sanna, Daria; Sanna, Emanuele; Sarno, Stefania; Sineo, Luca; Taglioli, Luca; Tagarelli, Giuseppe; Tofanelli, Sergio; Vona, Giuseppe; Pettener, Davide; Destro Bisol, Giovanni

    2014-01-01

    The animal and plant biodiversity of the Italian territory is known to be one of the richest in the Mediterranean basin and Europe as a whole, but does the genetic diversity of extant human populations show a comparable pattern? According to a number of studies, the genetic structure of Italian populations retains the signatures of complex peopling processes which took place from the Paleolithic to modern era. Although the observed patterns highlight a remarkable degree of genetic heterogeneity, they do not, however, take into account an important source of variation. In fact, Italy is home to numerous ethnolinguistic minorities which have yet to be studied systematically. Due to their difference in geographical origin and demographic history, such groups not only signal the cultural and social diversity of our country, but they are also potential contributors to its bio-anthropological heterogeneity. To fill this gap, research groups from four Italian Universities (Bologna, Cagliari, Pisa and Roma Sapienza) started a collaborative study in 2007, which was funded by the Italian Ministry of Education, University and Research and received partial support by the Istituto Italiano di Antropologia. In this paper, we present an account of the results obtained in the course of this initiative. Four case-studies relative to linguistic minorities from the Eastern Alps, Sardinia, Apennines and Southern Italy are first described and discussed, focusing on their micro-evolutionary and anthropological implications. Thereafter, we present the results of a systematic analysis of the relations between linguistic, geographic and genetic isolation. Integrating the data obtained in the course of the long-term study with literature and unpublished results on Italian populations, we show that a combination of linguistic and geographic factors is probably responsible for the presence of the most robust signatures of genetic isolation. Finally, we evaluate the magnitude of the diversity

  10. Genetic and developmental studies of albino chorus frogs

    USGS Publications Warehouse

    Corn, Paul Stephen

    1986-01-01

    Albino (amelanic) adult chorus frogs (Pseudacris triseriata) occurred with frequencies of 7 percent in 1981 and 12 percent in 1982 in breeding aggregations at a pond in the foothills of the Colorado Front Range. Laboratory matings and examination of albino egg masses suggest that the absence of melanin is due to a recessive allele. The albino phenotype displayed no deficiencies in survival of embryos, rates of embryo or larval development, or rates of growth of juvenile frogs. The absence of abnormalities in development or growth suggests that the a allele in P. triseriata has an action different from albino alleles studied previously in anurans.

  11. The dark side of friends: a genetically informed study of victimization within early adolescents' friendships.

    PubMed

    Brendgen, Mara; Girard, Alain; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

    2015-01-01

    Using a genetically informed twin design, this study examined (a) whether, in line with gene-environment correlation (rGE), a genetic disposition for anxiety puts children at risk of being victimized by a close friend or by other peers, and (b) whether, in line with gene-environment interaction (GxE), victimization by a close friend or by other peers moderates the expression of a genetic disposition for anxiety. Participants were 268 monozygotic and dizygotic twin pairs (MZ males = 71, MZ females = 80, DZ males = 56, DZ females = 61; 87% of European descent) assessed via questionnaires in Grade 8 (M age = 14.06 years, SD = 3.60). Participants reported about their victimization by a close friend and by other peers and their anxiety level. Victimization by a close friend and victimization by other peers were uncorrelated. In line with rGE, genetic factors related to anxiety predicted victimization by other peers, whereas victimization by a close friend was not predicted by heritable characteristics. Moreover, in line with a suppression process of GxE, victimization by other peers reduced the role of genetic factors in explaining interindividual differences in anxiety. In contrast, in line with a diathesis-stress process of GxE, victimization by a close friend fostered the expression of a genetic disposition for anxiety. Victimization by a close friend seems to happen to adolescents regardless of their personal, heritable characteristics. If it does occur, however, it is a source of distress mostly for youth with a genetic vulnerability for anxiety. PMID:24617293

  12. Comparative use of InDel and SSR markers in deciphering the interspecific structure of cultivated citrus genetic diversity: a perspective for genetic association studies.

    PubMed

    García-Lor, Andrés; Luro, François; Navarro, Luis; Ollitrault, Patrick

    2012-01-01

    Genetic stratification associated with domestication history is a key parameter for estimating the pertinence of genetic association study within a gene pool. Previous molecular and phenotypic studies have shown that most of the diversity of cultivated citrus results from recombination between three main species: C. medica (citron), C. reticulata (mandarin) and C. maxima (pummelo). However, the precise contribution of each of these basic species to the genomes of secondary cultivated species, such as C. sinensis (sweet orange), C. limon (lemon), C. aurantium (sour orange), C. paradisi (grapefruit) and recent hybrids is unknown. Our study focused on: (1) the development of insertion-deletion (InDel) markers and their comparison with SSR markers for use in genetic diversity and phylogenetic studies; (2) the analysis of the contributions of basic taxa to the genomes of secondary species and modern cultivars and (3) the description of the organisation of the Citrus gene pool, to evaluate how genetic association studies should be done at the cultivated Citrus gene pool level. InDel markers appear to be better phylogenetic markers for tracing the contributions of the three ancestral species, whereas SSR markers are more useful for intraspecific diversity analysis. Most of the genetic organisation of the Citrus gene pool is related to the differentiation between C. reticulata, C. maxima and C. medica. High and generalised LD was observed, probably due to the initial differentiation between the basic species and a limited number of interspecific recombinations. This structure precludes association genetic studies at the genus level without developing additional recombinant populations from interspecific hybrids. Association genetic studies should also be affordable at intraspecific level in a less structured pool such as C. reticulata. PMID:22160318

  13. Genetic association of impulsivity in young adults: a multivariate study

    PubMed Central

    Khadka, S; Narayanan, B; Meda, S A; Gelernter, J; Han, S; Sawyer, B; Aslanzadeh, F; Stevens, M C; Hawkins, K A; Anticevic, A; Potenza, M N; Pearlson, G D

    2014-01-01

    Impulsivity is a heritable, multifaceted construct with clinically relevant links to multiple psychopathologies. We assessed impulsivity in young adult (N~2100) participants in a longitudinal study, using self-report questionnaires and computer-based behavioral tasks. Analysis was restricted to the subset (N=426) who underwent genotyping. Multivariate association between impulsivity measures and single-nucleotide polymorphism data was implemented using parallel independent component analysis (Para-ICA). Pathways associated with multiple genes in components that correlated significantly with impulsivity phenotypes were then identified using a pathway enrichment analysis. Para-ICA revealed two significantly correlated genotype–phenotype component pairs. One impulsivity component included the reward responsiveness subscale and behavioral inhibition scale of the Behavioral-Inhibition System/Behavioral-Activation System scale, and the second impulsivity component included the non-planning subscale of the Barratt Impulsiveness Scale and the Experiential Discounting Task. Pathway analysis identified processes related to neurogenesis, nervous system signal generation/amplification, neurotransmission and immune response. We identified various genes and gene regulatory pathways associated with empirically derived impulsivity components. Our study suggests that gene networks implicated previously in brain development, neurotransmission and immune response are related to impulsive tendencies and behaviors. PMID:25268255

  14. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

    PubMed Central

    Cleynen, Isabelle; Boucher, Gabrielle; Jostins, Luke; Schumm, L Philip; Zeissig, Sebastian; Ahmad, Tariq; Andersen, Vibeke; Andrews, Jane M; Annese, Vito; Brand, Stephan; Brant, Steven R; Cho, Judy H; Daly, Mark J; Dubinsky, Marla; Duerr, Richard H; Ferguson, Lynnette R; Franke, Andre; Gearry, Richard B; Goyette, Philippe; Hakonarson, Hakon; Halfvarson, Jonas; Hov, Johannes R; Huang, Hailang; Kennedy, Nicholas A; Kupcinskas, Limas; Lawrance, Ian C; Lee, James C; Satsangi, Jack; Schreiber, Stephan; Théâtre, Emilie; van der Meulen-de Jong, Andrea E; Weersma, Rinse K; Wilson, David C; Parkes, Miles; Vermeire, Severine; Rioux, John D; Mansfield, John; Silverberg, Mark S; Radford-Smith, Graham; McGovern, Dermot P B; Barrett, Jeffrey C; Lees, Charlie W

    2016-01-01

    Summary Background Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases. Methods This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34 819 patients (19 713 with Crohn's disease, 14 683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype–phenotype associations across 156 154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile. Findings After quality control, the primary analysis included 29 838 patients (16 902 with Crohn's disease, 12 597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for

  15. Novel Approaches to Studying the Genetic Basis of Cerebellar Development

    PubMed Central

    Sajan, Samin A.; Waimey, Kathryn E.

    2010-01-01

    The list of genes that when mutated cause disruptions in cerebellar development is rapidly increasing. The study of both spontaneous and engineered mouse mutants has been essential to this progress, as it has revealed much of our current understanding of the developmental processes required to construct the mature cerebellum. Improvements in brain imaging, such as magnetic resonance imaging (MRI) and the emergence of better classification schemes for human cerebellar malformations, have recently led to the identification of a number of genes which cause human cerebellar disorders. In this review we argue that synergistic approaches combining classical molecular techniques, genomics, and mouse models of human malformations will be essential to fuel additional discoveries of cerebellar developmental genes and mechanisms. PMID:20387026

  16. Cystathionine γ-lyase: clinical, metabolic, genetic, and structural studies

    PubMed Central

    Kraus, Jan P.; Hašek, Jindrich; Kožich, Viktor; Collard, Renata; Venezia, Sarah; Janošíková, Bohumila; Wang, Jian; Stabler, Sally P.; Allen, Robert H.; Jakobs, Cornelis; Finn, Christine T.; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Hegele, Robert A.; Mudd, S. Harvey

    2009-01-01

    We report studies of six individuals with marked elevations of cystathionine in plasma and/or urine. Studies of CTH, the gene that encodes cystathionine γ-lyase, revealed the presence among these individuals of either homozygous or compound heterozygous forms of a novel large deletion, p.Gly57_Gln196del, two novel missense mutations, c.589C>T (p.Arg197Cys) and c.932C>T (p.Thr311Ile), and one previously reported alteration, c.200C>T (p.Thr67Ile). Another novel missense mutation, c.185G>T (p.Arg62His), was found in heterozygous form in three mildly hypercystathioninemic members of a Taiwanese family. In one severely hypercystathioninemic individual no CTH mutation was found. Brief clinical histories of the cystathioninemic/cystathioninuric patients are presented. Most of the novel mutations were expressed and the CTH activities of the mutant proteins determined. The crystal structure of the human enzyme, hCTH, and the evidence available as to the effects of the mutations in question, as well as those of the previously reported p.Gln240Glu, on protein structure, enzymatic activity, and responsiveness to vitamin B6 administration are discussed. Among healthy Czech controls, 9.3% were homozygous for CTH c.1208G>T (p.Ser403Ile), previously found homozygously in 7.5% of Canadians for whom plasma total homocysteine (tHcy) had been measured. Compared to wild-type homozygotes, among the 55 Czech c.1208G>T (p.Ser403Ile) homozygotes a greater level of plasma cystathionine was found only after methionine loading. Three of the four individuals homozygous or compound heterozygous for inactivating CTH mutations had mild plasma tHcy elevations, perhaps indicating a cause-and-effect relationship. The experience with the present patients provides no evidence that severe loss of CTH activity is accompanied by adverse clinical effects. PMID:19428278

  17. Molecular Genetic Studies of Gene Identification for Osteoporosis: A 2004 Update

    PubMed Central

    Liu, Yong-Jun; Shen, Hui; Xiao, Peng; Xiong, Dong-Hai; Li, Li-Hua; Recker, Robert R; Deng, Hong-Wen

    2007-01-01

    This review summarizes comprehensively the most important and representative molecular genetics studies of gene identification for osteoporosis published up to the end of December 2004. It is intended to constitute a sequential update of our previously published review covering the available data up to the end of 2002. Evidence from candidate gene association studies and genome-wide linkage studies in humans, as well as quantitative trait locus mapping animal models are reviewed separately. Studies of transgenic and knockout mice models relevant to osteoporosis are summarized. An important extension of this update is incorporation of functional genomic studies (including DNA microarrays and proteomics) on osteogenesis and osteoporosis, in light of the rapid advances and the promising prospects of the field. Comments are made on the most notable findings and representative studies for their potential influence and implications on our present understanding of genetics of osteoporosis. The format adopted by this review should be ideal for accommodating future new advances and studies. PMID:16995806

  18. A genetic study and meta-analysis of the genetic predisposition of prostate cancer in a Chinese population

    PubMed Central

    Zhao, Shan-Chao; Ren, Guoping; Yu, Yongwei; Wu, Yudong; Wu, Ji; Xue, Yao; Zhou, Bo; Zhang, Yanling; Xu, Xingxing; Li, Jie; He, Weiyang; Benlloch, Sara; Ross-Adams, Helen; Chen, Li; Li, Jucong; Hong, Yingqia; Kote-Jarai, Zsofia; Cui, Xingang; Hou, Jianguo; Guo, Jianming; Xu, Lei; Yin, Changjun; Zhou, Yuanping; Neal, David E.; Oliver, Tim; Cao, Guangwen; Zhang, Zhengdong; Easton, Douglas F.; Chelala, Claude; Olama, Ali Amin Al; Eeles, Rosalind A.; Zhang, Hongwei; Lu, Yong-Jie

    2016-01-01

    Prostate cancer predisposition has been extensively investigated in European populations, but there have been few studies of other ethnic groups. To investigate prostate cancer susceptibility in the under-investigated Chinese population, we performed single-nucleotide polymorphism (SNP) array analysis on a cohort of Chinese cases and controls and then meta-analysis with data from the existing Chinese prostate cancer genome-wide association study (GWAS). Genotyping 211,155 SNPs in 495 cases and 640 controls of Chinese ancestry identified several new suggestive Chinese prostate cancer predisposition loci. However, none of them reached genome-wide significance level either by meta-analysis or replication study. The meta-analysis with the Chinese GWAS data revealed that four 8q24 loci are the main contributors to Chinese prostate cancer risk and the risk alleles from three of them exist at much higher frequencies in Chinese than European populations. We also found that several predisposition loci reported in Western populations have different effect on Chinese men. Therefore, this first extensive single-nucleotide polymorphism study of Chinese prostate cancer in comparison with European population indicates that four loci on 8q24 contribute to a great risk of prostate cancer in a considerable large proportion of Chinese men. Based on those four loci, the top 10% of the population have six- or two-fold prostate cancer risk compared with men of the bottom 10% or median risk respectively, which may facilitate the design of prostate cancer genetic risk screening and prevention in Chinese men. These findings also provide additional insights into the etiology and pathogenesis of prostate cancer. PMID:26881390

  19. [Genetic studies of blast resistance of indica variety Zhefu 802].

    PubMed

    Wang, J L; Lei, C L; Jiang, W R; Ling, Z Z

    2000-01-01

    One indica variety, Zhefu 802, was studied for its inheritance of blast resistance by inoculation of two strains Ken54-04 and 95-t2. The B1F1 and F2 populations from cross of Zhefu 802(R) x Lijiangxintuanheigu (S) and related parents were inoculated by spray inoculation method with the two above mentioned strains to determine R:S ratio of segregating populations of this cross. The results indicated that Zhefu 802 has two dominant resistance genes to strain Ken 54-04. One of the two genes showed resistant reaction and the other is susceptible to strain 95-t2. The allelism test indicated that one gene in Zhefu 802, which showed resistant reaction to strain 95-t2, is allelic to Pi-i gene locus and non-allelic to loci of Pi-a, Pi-sh, Pi-k, Pi-z, Pi-ta, Pi-b, Pi-t. The other gene in this variety was also estimated to be different from all of the known genes. So it may be an unknown gene. But this point needs to be confirmed further. PMID:10887695

  20. Genetic studies on cytoplasmic male sterility in maize

    SciTech Connect

    Laughnan, J.R.

    1992-01-01

    Our research concerns the basic mechanisms of cytoplasmic male sterility (CMS) and fertility restoration in maize. The molecular determination of CMS is in the DNA of the mitochondria (mtDNA) but specific nuclear restorer-of-fertility (Rf) genes can overrule the male-sterile effect of the cytoplasm. Our approach to the study of the Rf genes is threefold. We are attempting to tag the cms-S Rf genes and the cms-T Rf2 gene with controlling elements (CEs). Since we have identified a number of spontaneous Rf genes for cms-S and have demonstrated that they are themselves transposable, we are also searching for cases in which an Rf gene is inserted into a wild-type gene. The other aspect of our research involves the nuclear control over the organization of the mitochondrial genome. We found that the changes in mtDNA organization upon cytoplasmic reversion to fertility were characteristic of the nuclear background in which the reversion event occurred. We have investigated whether these differences are a reflection of differences in the organization of the mtDNA genome before reversion.

  1. Genome-wide Association Study of Dermatomyositis Reveals Genetic Overlap with other Autoimmune Disorders

    PubMed Central

    Miller, Frederick W.; Cooper, Robert G.; Vencovsky, Jiri; Rider, Lisa G.; Danko, Katalin; Wedderburn, Lucy R.; Lundberg, Ingrid E.; Pachman, Lauren M.; Reed, Ann M.; Ytterberg, Steven R.; Padyukov, Leonid; Selva-O’Callaghan, Albert; Radstake, Timothy; Isenberg, David A.; Chinoy, Hector; Ollier, William E. R.; O’Hanlon, Terrance P.; Peng, Bo; Lee, Annette; Lamb, Janine A.; Chen, Wei; Amos, Christopher I.; Gregersen, Peter K.

    2014-01-01

    Objective To identify new genetic associations with juvenile and adult dermatomyositis (DM). Methods We performed a genome-wide association study (GWAS) of adult and juvenile DM patients of European ancestry (n = 1178) and controls (n = 4724). To assess genetic overlap with other autoimmune disorders, we examined whether 141 single nucleotide polymorphisms (SNPs) outside the major histocompatibility complex (MHC) locus, and previously associated with autoimmune diseases, predispose to DM. Results Compared to controls, patients with DM had a strong signal in the MHC region consisting of GWAS-level significance (P < 5x10−8) at 80 genotyped SNPs. An analysis of 141 non-MHC SNPs previously associated with autoimmune diseases showed that three SNPs linked with three genes were associated with DM, with a false discovery rate (FDR) < 0.05. These genes were phospholipase C like 1 (PLCL1, rs6738825, FDR=0.00089), B lymphoid tyrosine kinase (BLK, rs2736340, FDR=0.00031), and chemokine (C-C motif) ligand 21 (CCL21, rs951005, FDR=0.0076). None of these genes was previously reported to be associated with DM. Conclusion Our findings confirm the MHC as the major genetic region associated with DM and indicate that DM shares non-MHC genetic features with other autoimmune diseases, suggesting the presence of additional novel risk loci. This first identification of autoimmune disease genetic predispositions shared with DM may lead to enhanced understanding of pathogenesis and novel diagnostic and therapeutic approaches. PMID:23983088

  2. An Exploratory Study of Employers' Attitudes Towards a Clinical Doctorate in Genetic Counseling.

    PubMed

    Valverde, Kathleen; Mueller, Rebecca; Paciotti, Breah; Conway, Laura

    2016-02-01

    Creation of an advanced degree in genetic counseling has been considered since the early 1980s. The Genetic Counseling Advanced Degree Task Force (GCADTF) was convened in 2012 to formally explore the potential suitability of a clinical doctorate (ClinD), though employer perspectives of advanced training were not part of the discussion. The conclusion of this group was that the field was not ready to move to an entry-level clinical doctorate at this time but that further education and research among other stakeholders was necessary (Nagy et al. 2014). In this study, we describe employers' perspectives on developing a clinical doctorate in genetic counseling based upon thirty audio-recorded semi-structured phone interviews that were transcribed verbatim and qualitatively analyzed. Overall, employers expressed concerns regarding the economic viability of ClinD training but envisioned expanded roles for genetic counselors (especially in areas of education and research) and enhanced credibility. While some employers reported that they would provide flexibility and tuition assistance for acquisition of a ClinD, for many employers, support was contingent on perceived value of the degree. Some employers were not clear about the difference between a ClinD and a PhD, suggesting that there is a need for educating employers about advanced degree options for the genetic counseling field. Future research could include investigating employer attitudes about market needs, envisioned roles, and compensation formulas for counselors with a ClinD or other forms of advanced training. PMID:26165833

  3. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

    PubMed

    Gelb, Bruce; Brueckner, Martina; Chung, Wendy; Goldmuntz, Elizabeth; Kaltman, Jonathan; Kaski, Juan Pablo; Kim, Richard; Kline, Jennie; Mercer-Rosa, Laura; Porter, George; Roberts, Amy; Rosenberg, Ellen; Seiden, Howard; Seidman, Christine; Sleeper, Lynn; Tennstedt, Sharon; Kaltman, Jonathan; Schramm, Charlene; Burns, Kristin; Pearson, Gail; Rosenberg, Ellen

    2013-02-15

    Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community's use of Pediatric Cardiac Genomics Consortium resources is welcome. PMID:23410879

  4. (Studies of the genetic regulation of the Thermomonospora cellulase complex)

    SciTech Connect

    Wilson, D.B.

    1992-01-01

    The goals of this project are to determine the molecular mechanisms regulating cellulose synthesis in the soil bacterium Thermomonosporafusca and to determine the molecular mechanism by which T.fusca cellulases degrade crystalline cellulose. We have determined a structure for the T.fusca E{sub 2} catalytic subunit (E{sub 2}-30) by x-ray crystallography. This structure is quite similar to that of T.reesei CBHU but there are a number of differences. One is that the E{sub 2} active site is in a cleft while that of CBHII is in a tunnel. This is an expected result since E{sub 2} is an endocellulase. Large amounts of homogenous E{sub 5} catalytic subunit have been prepared and attempts to crystallize it are underway. Crystals of E{sub 2}-30 were soaked in cellobiose and modified crystals detracted well, however difference Fourier analysis showed many changes, so that we could not localize cellobiose in the 3-D structure of E{sub 2}-30. This implies that binding of cellobiose causes a significant change in the structure of E{sub 2}-30. The stereochemistry of the cleavage catalyzed by E{sub l}, E{sub 2} and E{sub 5} was determined in collaboration with Dr. Stephen Withers and E{sub 1} and 2 inverted the glycoside linkage while E{sub 5} does not. The entire E{sub l} and E{sub 4} genes have been induced into Streptomyces lividans where they are expressed at a high level and the E{sub l} and E{sub 4} are completely secreted into the medium. Studies on the synergism between the exocellulase E{sub 3} and the endocellulases E{sub 2} or E{sub 5} show that both exo and endocellulase activities are stimulated when they are assayed together.

  5. Study of specific genetic and epigenetic variables in multiple myeloma.

    PubMed

    Hatzimichael, Eleftheria; Dasoula, Aggeliki; Benetatos, Leonidas; Syed, Nelofer; Dranitsaris, George; Crook, Tim; Bourantas, Konstantinos

    2010-12-01

    Few studies have examined the association between methylenetetrahydrofolate reductase (MTHFR) SNPs, epigenetic changes, and multiple myeloma (MM). We wished to determine genotype distributions for MTHFR 1298AC SNP in cases of MM and healthy controls and to examine whether there is any correlation between the methylation status of the CpG island of CDKN2A and Snk/Plk2 and MTHFR genotypes and with overall survival (OS) and other relevant clinical parameters. Bone marrow and peripheral blood were obtained from 45 patients with MM and 77 controls, respectively. The frequencies of the MTHFR 1298AA, 1298AC, and 1298CC genotypes were 53.3%, 40%, and 6.7% for the patient population and 50.6%, 41.6%, and 7.8% for the controls. No statistically significant difference was found in genotype distribution between cases and controls. No correlation was noted between MTHFR genotypes and OS, disease stage, bone disease, anemia, and extramedullary disease. Regarding CDKN2A and Snk/Plk2 CpG island methylation analysis, we found 12 of 45 patients and 27 of 45, respectively, to be methylated. CDKN2A and Snk/Plk2 methylation did not correlate with MTHFR genotypes. Herein, we report the identification of Snk/Plk2 as a novel methylated gene in MM and show that methylation is not influenced in this CpG island or in that of a previously described methylated gene, CDKN2A, in MM. Further evaluation in a larger sample of patients is needed in order to better define the prognostic and clinical value, if any, of MTHFR 1298 polymorphisms and CDKN2A and Snk/Plk2 methylation in the pathogenesis of MM. PMID:21067440

  6. Twin Studies and Their Implications for Molecular Genetic Studies: Endophenotypes Integrate Quantitative and Molecular Genetics in ADHD Research

    ERIC Educational Resources Information Center

    Wood, Alexis C.; Neale, Michael C.

    2010-01-01

    Objective: To describe the utility of twin studies for attention-deficit/hyperactivity disorder (ADHD) research and demonstrate their potential for the identification of alternative phenotypes suitable for genomewide association, developmental risk assessment, treatment response, and intervention targets. Method: Brief descriptions of the classic…

  7. A scientific project locked in time. The Terman Genetic Studies of Genius, 1920s-1950s.

    PubMed

    Cravens, H

    1992-02-01

    Lewis M. Terman is well-known in the history of American psychology for the Stanford Revision of the Binet-Simon intelligence tests and the Genetic Studies of Genius project. The same assumptions informed the genius project and Terman's work in intelligence testing: the notion of the fixity of the IQ at birth and the maturation theory. According to the maturation theory, individuals developed only within the range of differences made possible by the genetic endowment of the "group"--natural, cultural, or both--to which they belonged. In this article the historicity and nonuniversality of Terman's work is discussed. PMID:1567087

  8. Studies of Genetic Variation of Essential Oil and Alkaloid Content in Boldo (Peumus boldus).

    PubMed

    Vogel, H; Razmilic, I; Muñoz, M; Doll, U; Martin, J S

    1999-02-01

    Boldo is a tree or shrub with medicinal properties native to Chile. The leaves contain alkaloids and essential oils. Variation of total alkaloid concentration, of the alkaloid boldine, and essential oil components were studied in different populations from northern, central, and southern parts of its geographic range and in their progenies (half-sib families). Total alkaloid concentration showed genetic variation between progenies of the central population but not between populations. Boldine content found in concentrations of 0.007 to 0.009% did not differ significantly between populations. Principal components of the essential oil were determined genetically, with highest values for ascaridole in the population of the north and for P-cymene in the south. Between half-sib families genetic variation was found in the central and northern populations for these components. The high heritability coefficients found indicate considerable potential for successful selection of individuals for these characters. PMID:17260243

  9. Mouse Models of Cancer: Sleeping Beauty Transposons for Insertional Mutagenesis Screens and Reverse Genetic Studies

    PubMed Central

    Tschida, Barbara R.; Largaespada, David A.; Keng, Vincent W.

    2014-01-01

    The genetic complexity and heterogeneity of cancer has posed a problem in designing rationally targeted therapies effective in a large proportion of human cancer. Genomic characterization of many cancer types has provided a staggering amount of data that needs to be interpreted to further our understanding of this disease. Forward genetic screening in mice using Sleeping Beauty (SB) based insertional mutagenesis is an effective method for candidate cancer gene discovery that can aid in distinguishing driver from passenger mutations in human cancer. This system has been adapted for unbiased screens to identify drivers of multiple cancer types. These screens have already identified hundreds of candidate cancer-promoting mutations. These can be used to develop new mouse models for further study, which may prove useful for therapeutic testing. SB technology may also hold the key for rapid generation of reverse genetic mouse models of cancer, and has already been used to model glioblastoma and liver cancer. PMID:24468652

  10. Aggressive Behavior between Siblings and the Development of Externalizing Problems: Evidence from a Genetically Sensitive Study

    ERIC Educational Resources Information Center

    Natsuaki, Misaki N.; Ge, Xiaojia; Reiss, David; Neiderhiser, Jenae M.

    2009-01-01

    This study investigated the prospective links between sibling aggression and the development of externalizing problems using a multilevel modeling approach with a genetically sensitive design. The sample consisted of 780 adolescents (390 sibling pairs) who participated in 2 waves of the Nonshared Environment in Adolescent Development project.…

  11. Evidence for Shared Genetic Risk between ADHD Symptoms and Reduced Mathematics Ability: A Twin Study

    ERIC Educational Resources Information Center

    Greven, Corina U.; Kovas, Yulia; Willcutt, Erik G.; Petrill, Stephen A.; Plomin, Robert

    2013-01-01

    Background: Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Methods: Data came from more than 6,000 twelve-year-old twin pairs from the UK population-representative Twins Early Development Study. Parents…

  12. Strong Genetic Contribution to Peer Relationship Difficulties at School Entry: Findings from a Longitudinal Twin Study

    ERIC Educational Resources Information Center

    Boivin, Michel; Brendgen, Mara; Vitaro, Frank; Dionne, Ginette; Girard, Alain; Perusse, Daniel; Tremblay, Richard E.

    2013-01-01

    This study assessed the genetic and environmental contributions to peer difficulties in the early school years. Twins' peer difficulties were assessed longitudinally in kindergarten (796 twins, "M"[subscript age] = 6.1 years), Grade 1 (948 twins, "M"[subscript age] = 7.1 years), and Grade 4 (868 twins, "M"[subscript age] = 10 years) through…

  13. Attitudes of Prairie Bible College Students toward Human Genetic Manipulation. A Survey and Comparative Study.

    ERIC Educational Resources Information Center

    Jordahl, Ron, Ed.

    This document reports a survey instituted to compare the attitudes of students at a Christian college (Prairie Bible College) in Alberta, Canada with those of college students in general concerning the possible use of genetic manipulation. Comparison was made with the findings of a 1990 study by Geremia Veglia, et al., "Public Attitudes toward…

  14. A Study to Evaluate Genetic Predictors of Aromatase Inhibitor Musculoskeletal Symptoms (AIMSS) | Division of Cancer Prevention

    Cancer.gov

    E1Z11 is a study to determine whether certain genetic information can predict which breast cancer patients will discontinue treatment with AIs due to the development of musculoskeletal symptoms (MSS). Women with stage 1-111 breast cancer who are prescribed the aromatase inhibitor anastrozole as treatment may join. |

  15. Genetic and Environmental Influences on Rapid Naming and Reading Ability: A Twin Study.

    ERIC Educational Resources Information Center

    Davis, Chayna J.; Knopik, Valerie S.; Olson, Richard K.; Wadsworth, Sally J.; DeFries, John C.

    2001-01-01

    A study assessed genetic and environmental etiologies of reading, rapid naming (RN), and their covariation using data from 587 twin pairs (ages 7-20) in which one student had reading difficulties and from 360 control pairs. Correlation between reading and RN performances for subjects was significantly higher than that of controls. (Contains…

  16. Genetic and Environmental Effects on Stuttering: A Twin Study from Finland

    ERIC Educational Resources Information Center

    Rautakoski, Pirkko; Hannus, Therese; Simberg, Susanna; Sandnabba, N. Kenneth; Santtila, Pekka

    2012-01-01

    The present study explored the prevalence of self-reported stuttering in a Finnish twin population and examined the extent to which the variance in liability to stuttering was attributable to genetic and environmental effects. We analyzed data of 1728 Finnish twins, born between 1961 and 1989. The participants were asked to complete a…

  17. Systematic review of genetic association studies involving histologically confirmed non-alcoholic fatty liver disease

    PubMed Central

    Wood, Kayleigh L; Miller, Michael H; Dillon, John F

    2015-01-01

    Non-alcoholic fatty liver disease has an increasing prevalence in Western countries, affecting up to 20% of the population. Objective The aim of this project was to systematically review and summarise the genetic association studies that investigate possible genetic influences that confer susceptibility to non-alcoholic fatty liver disease and non-alcoholic steatohepatitis. Design The MEDLINE and SCOPUS databases were searched to identify candidate gene studies on histologically diagnosed non-alcoholic fatty liver disease. Results A total of 85 articles have been summarised and categorised on the basis of the general pathway each candidate gene is involved in, including lipid metabolism, lipoprotein processing, cholesterol synthesis, glucose homoeostasis, inflammatory response, protection against oxidative stress and whole body metabolism. Conclusions The main findings demonstrate a small but consistent association of PNPLA3 with non-alcoholic fatty liver disease and non-alcoholic steatohepatitis. Genetic association studies have investigated general disease susceptibility, histological characteristics, severity and progression. However, further study is required to better elucidate the genetic factors influencing fatty liver disease. PMID:26462272

  18. When invasion increases population genetic structure: A study with Centaurea diffusa

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Biological invasions offer excellent systems to study the evolutionary processes involved in introductions of species to new ranges. Molecular markers can reveal invasion histories and the effects of introductions on amounts and structuring of genetic variation. We used five polymorphic microsatelli...

  19. Mitochondrial genomes of Bremia lactucae and development of haplotype markers for population and genetic studies

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Bremia lactucae, the causative agent of lettuce downy mildew, is the most important pathogen of lettuce in the US and worldwide. In order to identify cytoplasmic markers for use in population and genetic studies the reference mitochondrial genome of B. lactucae isolate SF5 was assembled from Illumi...

  20. The Genetic and Environmental Etiology of Decision-Making: A Longitudinal Twin Study

    ERIC Educational Resources Information Center

    Tuvblad, Catherine; Gao, Yu; Wang, Pan; Raine, Adrian; Botwick, Theodore; Baker, Laura A.

    2013-01-01

    The present study examined the genetic and environmental etiology of decision-making (Iowa Gambling Task; Bechara, Damasio, Damasio, & Anderson, 1994), in a sample of twins at ages 11-13, 14-15, and 16-18 years. The variance across five 20-trial blocks could be explained by a latent "decision-making" factor within each of the three times of IGT…

  1. Integrating Genetic, Psychopharmacological and Neuroimaging Studies: A Converging Methods Approach to Understanding the Neurobiology of ADHD

    ERIC Educational Resources Information Center

    Durston, Sarah; Konrad, Kerstin

    2007-01-01

    This paper aims to illustrate how combining multiple approaches can inform us about the neurobiology of ADHD. Converging evidence from genetic, psychopharmacological and functional neuroimaging studies has implicated dopaminergic fronto-striatal circuitry in ADHD. However, while the observation of converging evidence from multiple vantage points…

  2. Information Recall in Genetic Counselling: A Pilot Study of Its Assessment.

    ERIC Educational Resources Information Center

    Michie, Susan; French, David; Allanson, Abi; Bobrow, Martin; Marteau, Theresa M.

    1997-01-01

    Validity of using genetic counselors' reports of information given in consultations as a measure of patient recall was studied. Counselors' reports were compared with tape recordings and patient follow-up calls. Measures include patient expectations, patient anxiety, demographics, patient recall, patient-defined important information, and…

  3. Using family members to augment genetic case-control studies of a life-threatening disease.

    PubMed

    Chen, Lu; Weinberg, Clarice R; Chen, Jinbo

    2016-07-20

    Survival bias is difficult to detect and adjust for in case-control genetic association studies but can invalidate findings when only surviving cases are studied and survival is associated with the genetic variants under study. Here, we propose a design where one genotypes genetically informative family members (such as offspring, parents, and spouses) of deceased cases and incorporates that surrogate genetic information into a retrospective maximum likelihood analysis. We show that inclusion of genotype data from first-degree relatives permits unbiased estimation of genotype association parameters. We derive closed-form maximum likelihood estimates for association parameters under the widely used log-additive and dominant association models. Our proposed design not only permits a valid analysis but also enhances statistical power by augmenting the sample with indirectly studied individuals. Gene variants associated with poor prognosis can also be identified under this design. We provide simulation results to assess performance of the methods. Copyright © 2016 John Wiley & Sons, Ltd. PMID:26866629

  4. The potential of large studies for building genetic risk prediction models

    Cancer.gov

    NCI scientists have developed a new paradigm to assess hereditary risk prediction in common diseases, such as prostate cancer. This genetic risk prediction concept is based on polygenic analysis—the study of a group of common DNA sequences, known as singl

  5. Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease

    PubMed Central

    Cruchaga, Carlos; Kauwe, John S.K.; Nowotny, Petra; Bales, Kelly; Pickering, Eve H.; Mayo, Kevin; Bertelsen, Sarah; Hinrichs, Anthony; Fagan, Anne M.; Holtzman, David M.; Morris, John C.; Goate, Alison M.

    2012-01-01

    The apolipoprotein E (APOE) genotype is the major genetic risk factor for Alzheimer's disease (AD). We have access to cerebrospinal fluid (CSF) and plasma APOE protein levels from 641 individuals and genome-wide genotyped data from 570 of these samples. The aim of this study was to test whether CSF or plasma APOE levels could be a useful endophenotype for AD and to identify genetic variants associated with APOE levels. We found that CSF (P = 8.15 × 10−4) but not plasma (P = 0.071) APOE protein levels are significantly associated with CSF Aβ42 levels. We used Mendelian randomization and genetic variants as instrumental variables to confirm that the association of CSF APOE with CSF Aβ42 levels and clinical dementia rating (CDR) is not because of a reverse causation or confounding effect. In addition the association of CSF APOE with Aβ42 levels was independent of the APOE ɛ4 genotype, suggesting that APOE levels in CSF may be a useful endophenotype for AD. We performed a genome-wide association study to identify genetic variants associated with CSF APOE levels: the APOE ɛ4 genotype was the strongest single-genetic factor associated with CSF APOE protein levels (P = 6.9 × 10−13). In aggregate, the Illumina chip single nucleotide polymorphisms explain 72% of the variability in CSF APOE protein levels, whereas the APOE ɛ4 genotype alone explains 8% of the variability. No other genetic variant reached the genome-wide significance threshold, but nine additional variants exhibited a P-value <10−6. Pathway mining analysis indicated that these nine additional loci are involved in lipid metabolism (P = 4.49 × 10−9). PMID:22821396

  6. Circulating ANP Genetic Association Study Identifies a Novel Gene Cluster Associated with Stroke in Caucasians

    PubMed Central

    Pereira, Naveen L.; Tosakulwong, Nirubol; Scott, Christopher G.; Jenkins, Gregory D.; Prodduturi, Naresh; Chai, Yubo; Olson, Timothy M.; Rodeheffer, Richard J.; Redfield, Margaret M.; Weinshilboum, Richard M.; Burnett, John C

    2015-01-01

    Background The goal of this study was to identify genetic determinants of plasma NT-proatrial natriuretic peptide (NT-proANP) in the general community by performing a large-scale genetic association study and to assess its functional significance in in-vitro cell studies and on disease susceptibility. Methods and Results Genotyping was performed across 16,000 genes in 893 randomly selected individuals, with replication in 891 subjects from the community. Plasma NT-proANP1–98 concentrations were determined using a radioimmunoassay. Thirty-three genome-wide significant single nucleotide polymorphisms (SNPs) were identified in the MTHFR-CLCN6-NPPA-NPPB locus and were all replicated. To assess significance, in-vitro functional genomic studies and clinical outcomes for carriers of a SNP rs5063 (V32M) located in NPPA that represented the most significant variation in this genetic locus, were assessed. The rs5063 variant allozyme in transfected HEK293 cells was decreased to 55±8% of wild-type protein (p=0.01) as assessed by quantitative Western blots. Carriers of rs5063 had lower NT-proANP levels (1427 vs. 2291 pmol/L, p<0.001), higher diastolic blood pressures (75 vs. 73 mmHg, p=0.009) and were at an increased risk for stroke as compared to wild-type subjects independent of age, sex, diabetes, hypertension, atrial fibrillation, and cholesterol levels (hazard ratio 1.6, p=0.004). Conclusions This is the first large-scale genetic association study of circulating NT-proANP levels performed with replication and functional assessment that identified genetic variants in the MTHFR-CLCN6-NPPA-NPPB cluster to be significantly associated with NT-proANP levels. The clinical significance of this variation relates to lower NT-proANP levels, higher blood pressures and an increased risk for stroke in the general community. PMID:25452597

  7. Microsatellite based genetic diversity study in indigenous chicken ecotypes of Karnataka

    PubMed Central

    Rudresh, B. H.; Murthy, H. N. N.; Jayashankar, M. R.; Nagaraj, C. S.; Kotresh, A. M.; Byregowda, S. M.

    2015-01-01

    Aim: The current study was the first of its kind taken upon indigenous ecotypes of the Karnataka in order to unravel the diversity details at 20 chicken microsatellite regions. Materials and Methods: 210 indigenous chicken belonging to six districts of Bangalore and Mysore division formed the target sample for the present study. The genomic deoxyribonucleic acid was isolated by phenol chloroform isoamyl alcohol method. A panel of 20 microsatellite regions, including 14 recommended by FAO and six identified from published scientific literature became the targeted chicken genomic region. 27-33 samples were successfully genotyped in each of the six ecotypes through simplex or multiplex polymerase chain reactions, polyacrylamide gel electrophoresis and silver staining for the selected microsatellite panel. Results: The chickens of Ramanagara and Chamrajnagara were most distant with a Nei’s genetic distance value of 0.22. The chickens of Bangalore rural and Mysore were least distant with a value of 0.056. The Ramanagara and Chamrajnagara pair had Nei’s genetic identity value of 0.802, which is least among all pairs of ecotypes. There were five main nodes from which the six ecotypes evolved on the basis 20 microsatellite markers used in this study. This study indicates that the four ecotypes Ramnagara, Bangalore Rural, Chickaballapura and Mysore are genetically identical due to their common ancestral evolution while, Mandya and Chamrajnagara ecotypes formed a relatively different cluster due to a separate common ancestral chicken population and less number of generations since drifting from bifurcation node. Conclusion: Twenty microsatellite markers based genetic diversity study on six indigenous ecotypes indicated lower genetic distances as well as lower FST values compared to the distinguished breeds reported. There were two main clusters, which differentiated into six ecotypes. They may differentiate into more distinct varieties if bred in isolation for a longer

  8. Columbia River Stock Identification Study; Validation of Genetic Method, 1980-1981 Final Report.

    SciTech Connect

    Milner, George B.; Teel, David J.; Utter, Fred M.

    1981-06-01

    The reliability of a method for obtaining maximum likelihood estimate of component stocks in mixed populations of salmonids through the frequency of genetic variants in a mixed population and in potentially contributing stocks was tested in 1980. A data base of 10 polymorphic loci from 14 hatchery stocks of spring chinook salmon of the Columbia River was used to estimate proportions of these stocks in four different blind'' mixtures whose true composition was only revealed subsequent to obtaining estimates. The accuracy and precision of these blind tests have validated the genetic method as a valuable means for identifying components of stock mixtures. Properties of the genetic method were further examined by simulation studies using the pooled data of the four blind tests as a mixed fishery. Replicated tests with samples sizes between 100 and 1,000 indicated that actual standard deviations on estimated contributions were consistently lower than calculated standard deviations; this difference diminished as sample size increased. It is recommended that future applications of the method be preceded by simulation studies that will identify appropriate levels of sampling required for acceptable levels of accuracy and precision. Variables in such studies include the stocks involved, the loci used, and the genetic differentiation among stocks. 8 refs., 6 figs., 4 tabs.

  9. A Novel Lung Disease Phenotype Adjusted for Mortality Attrition for Cystic Fibrosis Genetic Modifier Studies

    PubMed Central

    Taylor, Chelsea; Commander, Clayton W.; Collaco, Joseph M.; Strug, Lisa J.; Li, Weili; Wright, Fred A.; Webel, Aaron D.; Pace, Rhonda G.; Stonebraker, Jaclyn R.; Naughton, Kathleen; Dorfman, Ruslan; Sandford, Andrew; Blackman, Scott M.; Berthiaume, Yves; Paré, Peter; Drumm, Mitchell L.; Zielenski, Julian; Durie, Peter; Cutting, Garry R.; Knowles, Michael R.; Corey, Mary

    2011-01-01

    SUMMARY Genetic studies of lung disease in Cystic Fibrosis are hampered by the lack of a severity measure that accounts for chronic disease progression and mortality attrition. Further, combining analyses across studies requires common phenotypes that are robust to study design and patient ascertainment. Using data from the North American Cystic Fibrosis Modifier Consortium (Canadian Consortium for CF Genetic Studies, Johns Hopkins University CF Twin and Sibling Study, and University of North Carolina/Case Western Reserve University Gene Modifier Study), the authors calculated age-specific CF percentile values of FEV1 which were adjusted for CF age-specific mortality data. The phenotype was computed for 2061 patients representing the Canadian CF population, 1137 extreme phenotype patients in the UNC/Case Western study, and 1323 patients from multiple CF sib families in the CF Twin and Sibling Study. Despite differences in ascertainment and median age, our phenotype score was distributed in all three samples in a manner consistent with ascertainment differences, reflecting the lung disease severity of each individual in the underlying population. The new phenotype score was highly correlated with the previously recommended complex phenotype, but the new phenotype is more robust for shorter follow-up and for extreme ages. A disease progression and mortality adjusted phenotype reduces the need for stratification or additional covariates, increasing statistical power and avoiding possible distortions. This approach will facilitate large scale genetic and environmental epidemiological studies which will provide targeted therapeutic pathways for the clinical benefit of patients with CF. PMID:21462361

  10. Using game theory approach to interpret stable policies for Iran's oil and gas common resources conflicts with Iraq and Qatar

    NASA Astrophysics Data System (ADS)

    Esmaeili, Maryam; Bahrini, Aram; Shayanrad, Sepideh

    2015-08-01

    Oil and gas as the non-renewable resources are considered very valuable for the countries with petroleum economics. These resources are not only diffused equally around the world, but also they are common in some places which their neighbors often come into conflicts. Consequently, it is vital for those countries to manage their resource utilization. Lately, game theory was applied in conflict resolution of common resources, such as water, which is a proof of its efficacy and capability. This paper models the conflicts between Iran and its neighbors namely Qatar and Iraq between their oil and gas common resources using game theory approach. In other words, the future of these countries will be introduced and analyzed by some well-known 2 × 2 games to achieve a better perspective of their conflicts. Because of information inadequacy of the players, in addition to Nash Stability, various solution concepts are used based on the foresight, disimprovements, and knowledge of preferences. The results of mathematical models show how the countries could take a reasonable strategy to exploit their common resources.

  11. Is Applied Physics Embedded in Words Like Chitto, Seminole, Quito, Keitan, Iquitos, Caqueta, Katahdin, Qatar, Katmandu, and Willimantic?

    NASA Astrophysics Data System (ADS)

    Morgan, Kerianne; Mc Leod, Roger D.

    2007-10-01

    Chitto Tustenugee's final Seminole stronghold is now preserved in Miramar, Florida. It is profoundly active; its electromagnetic field, EMF, can be detected by methods readily accessible to the historic Seminole. They may have utilized information from it to avoid hurricanes and tornadoes. It also can yield information about future earthquakes. An anomalous earthquake 90 miles north of Guantanamo Bay, Cuba, was ``predicted'' by Mc Leod. The core concept here is that certain sites generate signals detectable by non-technologic societies, which seem to incorporate them into their world-views that include aspects of applied, practical physics. Keitan: A God, and Katahdin: Cathar stronghold, mountains in Maine, Iquitos: Island of the Cathars, is in Peru, reachable by sea-going vessels. Quito: Cathar, is in Ecuador. Caqueta: Church of the Cathar, is a tributary of the Amazon from Columbia. Chitto: Cathar, Qatar: Cathar. Is it even possible that Nepal's Katmandu, as Cathar doctor monk and Willimantic, doctor applied physicist at The God Spirit-signal, EMF, define similar individuals? What were the reasons why so many disparate groups, at different times, selected place-names or ``titles'' that have implicit, historic significance, involving natural phenomena?

  12. Deep burial dolomitization driven by plate collision: Evidence from strontium-isotopes of Jurassic Arab IV dolomites from offshore Qatar

    SciTech Connect

    Vahrenkamp, V.C.; Taylor, S.R. )

    1991-03-01

    The use of strontium-isotope ratios of dolomites to constrain timing and mechanism of diagenesis has been investigated on Jurassic Arab IV dolomites from offshore Qatar. Reservoir quality is determined by two types of dolomites, which were differentiated geochemically (cathodoluminescence, fluid inclusions, and carbon and oxygen stable isotopes): (1) stratigraphically concordant sucrosic dolomites with high porosity formed during early near-surface diagenesis (Jurassic) and (2) stratigraphically discordant cylindrical bodies of massive, porosity-destroying dolomites formed late during deep burial diagenesis (Eocene-Pliocene). Detailed Sr-isotope analysis of dolomites from the Arab IV confirms an Early Jurassic age of the sucrosic, high porosity dolomites ({sup 87}Sr/{sup 86}SR = 0.70707 for NBS 987 = 0.71024) with magnesium and strontium being derived from Jurassic seawater. Late Tertiary compressional orogeny of the Zagros belt to the north is proposed to have caused large-scale squeezing of fluids from the pore system of sedimentary rocks. A regional deep fluid flow system developed dissolving infra-Cambrian evaporites upflow and causing large-scale deep burial dolomitization downflow.

  13. Advances in molecular genetic studies of attention deficit hyperactivity disorder in China

    PubMed Central

    GAO, Qian; LIU, Lu; QIAN, Qiujin; WANG, Yufeng

    2014-01-01

    Summary Attention deficit hyperactivity disorder (ADHD) is a common psychiatric condition in children worldwide that typically includes a combination of symptoms of inattention and hyperactivity/impulsivity. Genetic factors are believed to be important in the development and course of ADHD so many candidate genes studies and genome-wide association studies (GWAS) have been conducted in search of the genetic mechanisms that cause or influence the condition. This review provides an overview of gene association and pharmacogenetic studies of ADHD from mainland China and elsewhere that use Han Chinese samples. To date, studies from China and elsewhere remain inconclusive so future studies need to consider alternative analytic techniques and test new biological hypotheses about the relationship of neurotransmission and neurodevelopment to the onset and course of this disabling condition. PMID:25317006

  14. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof-of-concept and roadmap for future studies

    PubMed Central

    Anttila, Verneri; Hibar, Derrek P; van Hulzen, Kimm J E; Arias-Vasquez, Alejandro; Smoller, Jordan W; Nichols, Thomas E; Neale, Michael C; McIntosh, Andrew M; Lee, Phil; McMahon, Francis J; Meyer-Lindenberg, Andreas; Mattheisen, Manuel; Andreassen, Ole A; Gruber, Oliver; Sachdev, Perminder S; Roiz-Santiañez, Roberto; Saykin, Andrew J; Ehrlich, Stefan; Mather, Karen A; Turner, Jessica A; Schwarz, Emanuel; Thalamuthu, Anbupalam; Shugart, Yin Yao; Ho, Yvonne YW; Martin, Nicholas G; Wright, Margaret J

    2016-01-01

    Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between schizophrenia cases and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. The current study provides proof-of-concept (albeit based on a limited set of structural brain measures), and defines a roadmap for future studies investigating the genetic covariance between structural/functional brain phenotypes and risk for psychiatric disorders. PMID:26854805

  15. Genetic contribution to postpartum haemorrhage in Swedish population: cohort study of 466 686 births

    PubMed Central

    Hernandéz-Diaź, Sonia; Frisell, Thomas; Greene, Michael F; Almqvist, Catarina; Bateman, Brian T

    2014-01-01

    Objective To investigate the familial clustering of postpartum haemorrhage in the Swedish population, and to quantify the relative contributions of genetic and environmental effects. Design Register based cohort study. Setting Swedish population (multi-generation and medical birth registers). Main outcome measure Postpartum haemorrhage, defined as >1000 mL estimated blood loss. Participants The first two live births to individuals in Sweden in 1997-2009 contributed to clusters representing intact couples (n=366 350 births), mothers with separate partners (n=53 292), fathers with separate partners (n=47 054), sister pairs (n=97 228), brother pairs (n=91 168), and mixed sibling pairs (n=177 944). Methods Familial clustering was quantified through cluster specific tetrachoric correlation coefficients, and the influence of potential sharing of known risk factors was evaluated with alternating logistic regression. Relative contributions of genetic and environmental effects to the variation in liability for postpartum haemorrhage were quantified with generalised linear mixed models. Results The overall prevalence of postpartum haemorrhage after vaginal deliveries in our sample was 4.6%. Among vaginal deliveries, 18% (95% confidence interval 9% to 26%) of the variation in postpartum haemorrhage liability was attributed to maternal genetic factors, 10% (1% to 19%) to unique maternal environment, and 11% (0% to 26%) to fetal genetic effects. Adjustment for known risk factors only partially explained estimates of familial clustering, suggesting that the observed shared genetic and environmental effects operate in part through pathways independent of known risk factors. There were similar patterns of familial clustering for both of the main subtypes examined (atony and retained placenta), though strongest for haemorrhage after retained placenta. Conclusions There is a maternal genetic predisposition to postpartum haemorrhage, but more than half of the total

  16. The adequacy of informed consent forms in genetic research in Oman: a pilot study.

    PubMed

    Al-Riyami, Asya; Jaju, Deepali; Jaju, Sanjay; Silverman, Henry J

    2011-08-01

    Genetic research presents ethical challenges to the achievement of valid informed consent, especially in developing countries with areas of low literacy. During the last several years, a number of genetic research proposals involving Omani nationals were submitted to the Department of Research and Studies, Ministry of Health, Oman. The objective of this paper is to report on the results of an internal quality assurance initiative to determine the extent of the information being provided in genetic research informed consent forms. In order to achieve this, we developed checklists to assess the inclusion of basic elements of informed consent as well as elements related to the collection and future storage of biological samples. Three of the authors independently evaluated and reached consensus on seven informed consent forms that were available for review. Of the seven consent forms, four had less than half of the basic elements of informed consent. None contained any information regarding whether genetic information relevant to health would be disclosed, whether participants may share in commercial products, the extent of confidentiality protections, and the inclusion of additional consent forms for future storage and use of tissue samples. Information regarding genetic risks and withdrawal of samples were rarely mentioned (1/7), whereas limits on future use of samples were mentioned in 3 of 7 consent forms. Ultimately, consent forms are not likely to address key issues regarding genetic research that have been recommended by research ethics guidelines. We recommend enhanced educational efforts to increase awareness, on the part of researchers, of information that should be included in consent forms. PMID:21266001

  17. MEASURES OF EXPOSURE IMPACT GENETIC ASSOCIATION STUDIES: AN EXAMPLE IN VITAMIN K LEVELS AND VKORC1

    PubMed Central

    CRAWFORD, DANA C.; BROWN-GENTRY, KRISTIN; RIEDER, MARK J.

    2014-01-01

    Studies assessing the impact of gene-environment interactions on common human diseases and traits have been relatively few for many reasons. One often acknowledged reason is that it is difficult to accurately measure the environment or exposure. Indeed, most large-scale epidemiologic studies use questionnaires to assess and measure past and current exposure levels. While questionnaires may be cost-effective, the data may or may not accurately represent the exposure compared with more direct measurements (e.g., self-reported current smoking status versus direct measurement for cotinine levels). Much like phenotyping, the choice in how an exposure is measured may impact downstream tests of genetic association and gene-environment interaction studies. As a case study, we performed tests of association between five common VKORC1 SNPs and two different measurements of vitamin K levels, dietary (n=5,725) and serum (n=348), in the Third National Health and Nutrition Examination Studies (NHANES III). We did not replicate previously reported associations between VKORC1 and vitamin K levels using either measure. Furthermore, the suggestive associations and estimated genetic effect sizes identified in this study differed depending on the vitamin K measurement. This case study of VKORC1 and vitamin K levels serves as a cautionary example of the downstream consequences that the type of exposure measurement choices will have on genetic association and possibly gene-environment studies. PMID:25592578

  18. Genetic ancestry of participants in the National Children’s Study

    PubMed Central

    2014-01-01

    Background The National Children’s Study (NCS) is a prospective epidemiological study in the USA tasked with identifying a nationally representative sample of 100,000 children, and following them from their gestation until they are 21 years of age. The objective of the study is to measure environmental and genetic influences on growth, development, and health. Determination of the ancestry of these NCS participants is important for assessing the diversity of study participants and for examining the effect of ancestry on various health outcomes. Results We estimated the genetic ancestry of a convenience sample of 641 parents enrolled at the 7 original NCS Vanguard sites, by analyzing 30,000 markers on exome arrays, using the 1000 Genomes Project superpopulations as reference populations, and compared this with the measures of self-reported ethnicity and race. For 99% of the individuals, self-reported ethnicity and race agreed with the predicted superpopulation. NCS individuals self-reporting as Asian had genetic ancestry of either South Asian or East Asian groups, while those reporting as either Hispanic White or Hispanic Other had similar genetic ancestry. Of the 33 individuals who self-reported as Multiracial or Non-Hispanic Other, 33% matched the South Asian or East Asian groups, while these groups represented only 4.4% of the other reported categories. Conclusions Our data suggest that self-reported ethnicity and race have some limitations in accurately capturing Hispanic and South Asian populations. Overall, however, our data indicate that despite the complexity of the US population, individuals know their ancestral origins, and that self-reported ethnicity and race is a reliable indicator of genetic ancestry. PMID:24490717

  19. Association of genetic variants with dyslipidemia and chronic kidney disease in a longitudinal population-based genetic epidemiological study

    PubMed Central

    YAMADA, YOSHIJI; MATSUI, KOTA; TAKEUCHI, ICHIRO; FUJIMAKI, TETSUO

    2015-01-01

    We previously identified 9 genes and chromosomal region 3q28 as susceptibility loci for myocardial infarction, ischemic stroke, or chronic kidney disease (CKD) in Japanese individuals by genome-wide or candidate gene association studies. In the present study, we examined the association of 13 polymorphisms at these 10 loci with the prevalence of hypertriglyceridemia, hyper-low-density lipoprotein (LDL) cholesterolemia, hypo-high-density lipoprotein (HDL) cholesterolemia, or CKD in community-dwelling Japanese individuals. The study subjects comprised 6,027 individuals who were recruited to the Inabe Health and Longevity Study, a longitudinal genetic epidemiological study of atherosclerotic, cardiovascular and metabolic diseases. The subjects were recruited from individuals who visited the Health Care Center at Inabe General Hospital for an annual health checkup, and they were followed up each year (mean follow-up period, 5 years). Longitudinal analysis with a generalized estimating equation and with adjustment for covariates revealed that rs6929846 of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with the prevalence of hypertriglyceridemia (P=0.0001), hyper-LDL cholesterolemia (P=0.0004), and CKD (P=0.0007); rs2569512 of interleukin enhancer binding factor 3 (ILF3) was associated with hyper-LDL cholesterolemia (P=0.0029); and rs2074379 (P=0.0019) and rs2074388 (P=0.0029) of alpha-kinase 1 (ALPK1) were associated with CKD. Longitudinal analysis with a generalized linear mixed-effect model and with adjustment for covariates among all individuals revealed that rs6929846 of BTN2A1 was significantly associated with the serum concentrations of triglycerides (P=0.0011), LDL cholesterol (P=3.3×10−5), and creatinine (P=0.0006), as well as with the estimated glomerular filtration rate (eGFR) (P=0.0004); rs2569512 of ILF3 was shown to be associated with the serum concentration of LDL cholesterol (P=0.0221); and rs2074379 (P=0.0302) and rs

  20. Exploratory study of the feasibility and utility of the colored eco-genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer.

    PubMed

    Peters, June A; Kenen, Regina; Giusti, Ruthann; Loud, Jennifer; Weissman, Nancy; Greene, Mark H

    2004-10-15

    We report here the results of an exploratory feasibility study of the colored eco-genetic relationship map (CEGRM), a novel, recently-developed psychosocial assessment tool, which incorporates features of the genetic pedigree, family systems genogram, and ecomap. The CEGRM presents a simple, concise, visual representation of the social interaction domains of information, services, and emotional support through the application of color-coded symbols to the genetic pedigree. The interactive process of completing the CEGRM was designed to facilitate contemporary genetic counseling goals of: (a) understanding the client in the context of her/his social milieu; (b) bolstering client self-awareness and insight; (c) fostering active client participation and mutuality in the counseling interaction; (d) eliciting illuminating social narratives; and (e) addressing outstanding emotional issues. Twenty women participating in a breast imaging study of women from families with BRCA1/2 mutations completed and evaluated various aspects of the CEGRM. We found that efficient construction of the CEGRM was feasible, and that compliance was excellent. Participants developed insights into their social milieu through observing the visual pattern of relationships illustrated by the CEGRM. The process of co-constructing the CEGRM fostered the participant's active involvement in the session, marked by mutuality and increased empathy. In this clinical research context, the participants felt free to share poignant stories about their friends and families. Further studies are planned to refine the CEGRM and to examine its utility in cancer genetics research. PMID:15378540

  1. A behavioral genetic study of intrapersonal and interpersonal dimensions of narcissism.

    PubMed

    Luo, Yu L L; Cai, Huajian; Song, Hairong

    2014-01-01

    Narcissism, characterized by grandiose self-image and entitled feelings to others, has been increasingly prevalent in the past decades. This study examined genetic and environmental bases of two dimensions of narcissism: intrapersonal grandiosity and interpersonal entitlement. A total of 304 pairs of twins from Beijing, China completed the Narcissistic Grandiosity Scale and the Psychological Entitlement Scale. Both grandiosity (23%) and entitlement (35%) were found to be moderately heritable, while simultaneously showing considerable non-shared environmental influences. Moreover, the genetic and environmental influences on the two dimensions were mostly unique (92-93%), with few genetic and environmental effects in common (7-8%). The two dimensions of narcissism, intrapersonal grandiosity and interpersonal entitlement, are heritable and largely independent of each other in terms of their genetic and environmental sources. These findings extend our understanding of the heritability of narcissism on the one hand. On the other hand, the study demonstrates the rationale for distinguishing between intrapersonal and interpersonal dimensions of narcissism, and possibly personality in general as well. PMID:24695616

  2. Mouse models for studying genetic influences on factors determining smoking cessation success in humans

    PubMed Central

    Hall, F. Scott; Markou, Athina; Levin, Edward D.; Uhl, George R.

    2014-01-01

    Humans differ in their ability to quit using addictive substances, including nicotine, the major psychoactive ingredient in tobacco. For tobacco smoking, a substantial body of evidence, largely derived from twin studies, indicates that approximately half of these individual differences in ability to quit are heritable [1, 2], genetic influences that likely overlap with those for other addictive substances [3]. Both twin and molecular genetic studies support overlapping influences on nicotine addiction vulnerability and smoking cessation success, although there is little formal analysis of the twin data that supports this important point [2, 3]. None of the current datasets provides clear data concerning which heritable factors might provide robust dimensions around which individuals differ in ability to quit smoking. One approach to this problem is to test mice with genetic variations in genes that contain human variants that alter quit-success. This review considers which features of quit success should be included in a comprehensive approach to elucidating the genetics of quit success, and how those features may be modeled in mice. PMID:22304675

  3. Genetic variants influencing effectiveness of exercise training programmes in obesity – an overview of human studies

    PubMed Central

    Ahmetov, II; Zmijewski, P

    2016-01-01

    Frequent and regular physical activity has significant benefits for health, including improvement of body composition and help in weight control. Consequently, promoting training programmes, particularly in those who are genetically predisposed, is a significant step towards controlling the presently increasing epidemic of obesity. Although the physiological responses of the human body to exercise are quite well described, the genetic background of these reactions still remains mostly unknown. This review not only summarizes the current evidence, through a literature review and the results of our studies on the influence of gene variants on the characteristics and range of the body's adaptive response to training, but also explores research organization problems, future trends, and possibilities. We describe the most reliable candidate genetic markers that are involved in energy balance pathways and body composition changes in response to training programmes, such as FTO, MC4R, ACE, PPARG, LEP, LEPR, ADRB2, and ADRB3. This knowledge can have an enormous impact not only on individualization of exercise programmes to make them more efficient and safer, but also on improved recovery, traumatology, medical care, diet, supplementation and many other areas. Nevertheless, the current studies still represent only the first steps towards a better understanding of the genetic factors that influence obesity-related traits, as well as gene variant x physical activity interactions, so further research is necessary. PMID:27601774

  4. Gene Prioritization for Imaging Genetics Studies Using Gene Ontology and a Stratified False Discovery Rate Approach.

    PubMed

    Patel, Sejal; Park, Min Tae M; Chakravarty, M Mallar; Knight, Jo

    2016-01-01

    Imaging genetics is an emerging field in which the association between genes and neuroimaging-based quantitative phenotypes are used to explore the functional role of genes in neuroanatomy and neurophysiology in the context of healthy function and neuropsychiatric disorders. The main obstacle for researchers in the field is the high dimensionality of the data in both the imaging phenotypes and the genetic variants commonly typed. In this article, we develop a novel method that utilizes Gene Ontology, an online database, to select and prioritize certain genes, employing a stratified false discovery rate (sFDR) approach to investigate their associations with imaging phenotypes. sFDR has the potential to increase power in genome wide association studies (GWAS), and is quickly gaining traction as a method for multiple testing correction. Our novel approach addresses both the pressing need in genetic research to move beyond candidate gene studies, while not being overburdened with a loss of power due to multiple testing. As an example of our methodology, we perform a GWAS of hippocampal volume using both the Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA2) and the Alzheimer's Disease Neuroimaging Initiative datasets. The analysis of ENIGMA2 data yielded a set of SNPs with sFDR values between 10 and 20%. Our approach demonstrates a potential method to prioritize genes based on biological systems impaired in a disease. PMID:27092072

  5. Network‐Informed Gene Ranking Tackles Genetic Heterogeneity in Exome‐Sequencing Studies of Monogenic Disease

    PubMed Central

    Schulz, Reiner; Weale, Michael E.; Southgate, Laura; Oakey, Rebecca J.; Simpson, Michael A.; Schlitt, Thomas

    2015-01-01

    ABSTRACT Genetic heterogeneity presents a significant challenge for the identification of monogenic disease genes. Whole‐exome sequencing generates a large number of candidate disease‐causing variants and typical analyses rely on deleterious variants being observed in the same gene across several unrelated affected individuals. This is less likely to occur for genetically heterogeneous diseases, making more advanced analysis methods necessary. To address this need, we present HetRank, a flexible gene‐ranking method that incorporates interaction network data. We first show that different genes underlying the same monogenic disease are frequently connected in protein interaction networks. This motivates the central premise of HetRank: those genes carrying potentially pathogenic variants and whose network neighbors do so in other affected individuals are strong candidates for follow‐up study. By simulating 1,000 exome sequencing studies (20,000 exomes in total), we model varying degrees of genetic heterogeneity and show that HetRank consistently prioritizes more disease‐causing genes than existing analysis methods. We also demonstrate a proof‐of‐principle application of the method to prioritize genes causing Adams‐Oliver syndrome, a genetically heterogeneous rare disease. An implementation of HetRank in R is available via the Website http://sourceforge.net/p/hetrank/. PMID:26394720

  6. A Behavioral Genetic Study of Intrapersonal and Interpersonal Dimensions of Narcissism

    PubMed Central

    Luo, Yu L. L.; Cai, Huajian; Song, Hairong

    2014-01-01

    Narcissism, characterized by grandiose self-image and entitled feelings to others, has been increasingly prevalent in the past decades. This study examined genetic and environmental bases of two dimensions of narcissism: intrapersonal grandiosity and interpersonal entitlement. A total of 304 pairs of twins from Beijing, China completed the Narcissistic Grandiosity Scale and the Psychological Entitlement Scale. Both grandiosity (23%) and entitlement (35%) were found to be moderately heritable, while simultaneously showing considerable non-shared environmental influences. Moreover, the genetic and environmental influences on the two dimensions were mostly unique (92–93%), with few genetic and environmental effects in common (7–8%). The two dimensions of narcissism, intrapersonal grandiosity and interpersonal entitlement, are heritable and largely independent of each other in terms of their genetic and environmental sources. These findings extend our understanding of the heritability of narcissism on the one hand. On the other hand, the study demonstrates the rationale for distinguishing between intrapersonal and interpersonal dimensions of narcissism, and possibly personality in general as well. PMID:24695616

  7. Gene Prioritization for Imaging Genetics Studies Using Gene Ontology and a Stratified False Discovery Rate Approach

    PubMed Central

    Patel, Sejal; Park, Min Tae M.; Chakravarty, M. Mallar; Knight, Jo

    2016-01-01

    Imaging genetics is an emerging field in which the association between genes and neuroimaging-based quantitative phenotypes are used to explore the functional role of genes in neuroanatomy and neurophysiology in the context of healthy function and neuropsychiatric disorders. The main obstacle for researchers in the field is the high dimensionality of the data in both the imaging phenotypes and the genetic variants commonly typed. In this article, we develop a novel method that utilizes Gene Ontology, an online database, to select and prioritize certain genes, employing a stratified false discovery rate (sFDR) approach to investigate their associations with imaging phenotypes. sFDR has the potential to increase power in genome wide association studies (GWAS), and is quickly gaining traction as a method for multiple testing correction. Our novel approach addresses both the pressing need in genetic research to move beyond candidate gene studies, while not being overburdened with a loss of power due to multiple testing. As an example of our methodology, we perform a GWAS of hippocampal volume using both the Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA2) and the Alzheimer's Disease Neuroimaging Initiative datasets. The analysis of ENIGMA2 data yielded a set of SNPs with sFDR values between 10 and 20%. Our approach demonstrates a potential method to prioritize genes based on biological systems impaired in a disease. PMID:27092072

  8. Genetic variants influencing effectiveness of exercise training programmes in obesity - an overview of human studies.

    PubMed

    Leońska-Duniec, A; Ahmetov, I I; Zmijewski, P

    2016-09-01

    Frequent and regular physical activity has significant benefits for health, including improvement of body composition and help in weight control. Consequently, promoting training programmes, particularly in those who are genetically predisposed, is a significant step towards controlling the presently increasing epidemic of obesity. Although the physiological responses of the human body to exercise are quite well described, the genetic background of these reactions still remains mostly unknown. This review not only summarizes the current evidence, through a literature review and the results of our studies on the influence of gene variants on the characteristics and range of the body's adaptive response to training, but also explores research organization problems, future trends, and possibilities. We describe the most reliable candidate genetic markers that are involved in energy balance pathways and body composition changes in response to training programmes, such as FTO, MC4R, ACE, PPARG, LEP, LEPR, ADRB2, and ADRB3. This knowledge can have an enormous impact not only on individualization of exercise programmes to make them more efficient and safer, but also on improved recovery, traumatology, medical care, diet, supplementation and many other areas. Nevertheless, the current studies still represent only the first steps towards a better understanding of the genetic factors that influence obesity-related traits, as well as gene variant x physical activity interactions, so further research is necessary. PMID:27601774

  9. Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study

    PubMed Central

    Matullo, Giuseppe; Guarrera, Simonetta; Betti, Marta; Fiorito, Giovanni; Ferrante, Daniela; Voglino, Floriana; Cadby, Gemma; Di Gaetano, Cornelia; Rosa, Fabio; Russo, Alessia; Hirvonen, Ari; Casalone, Elisabetta; Tunesi, Sara; Padoan, Marina; Giordano, Mara; Aspesi, Anna; Casadio, Caterina; Ardissone, Francesco; Ruffini, Enrico; Betta, Pier Giacomo; Libener, Roberta; Guaschino, Roberto; Piccolini, Ezio; Neri, Monica; Musk, Arthur W. B.; de Klerk, Nicholas H.; Hui, Jennie; Beilby, John; James, Alan L.; Creaney, Jenette; Robinson, Bruce W.; Mukherjee, Sutapa; Palmer, Lyle J.; Mirabelli, Dario; Ugolini, Donatella; Bonassi, Stefano; Magnani, Corrado; Dianzani, Irma

    2013-01-01

    Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. Nevertheless, only 5–17% of those exposed to asbestos develop MPM, suggesting the involvement of other environmental and genetic risk factors. To identify the genetic risk factors that may contribute to the development of MPM, we conducted a genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs) in Italy, among 407 MPM cases and 389 controls with a complete history of asbestos exposure. A replication study was also undertaken and included 428 MPM cases and 1269 controls from Australia. Although no single marker reached the genome-wide significance threshold, several associations were supported by haplotype-, chromosomal region-, gene- and gene-ontology process-based analyses. Most of these SNPs were located in regions reported to harbor aberrant alterations in mesothelioma (SLC7A14, THRB, CEBP350, ADAMTS2, ETV1, PVT1 and MMP14 genes), causing at most a 2–3-fold increase in MPM risk. The Australian replication study showed significant associations in five of these chromosomal regions (3q26.2, 4q32.1, 7p22.2, 14q11.2, 15q14). Multivariate analysis suggested an independent contribution of 10 genetic variants, with an Area Under the ROC Curve (AUC) of 0.76 when only exposure and covariates were included in the model, and of 0.86 when the genetic component was also included, with a substantial increase of asbestos exposure risk estimation (odds ratio, OR: 45.28, 95% confidence interval, CI: 21.52–95.28). These results showed that genetic risk factors may play an additional role in the development of MPM, and that these should be taken into account to better estimate individual MPM risk in individuals who have been exposed to asbestos. PMID:23626673

  10. Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

    PubMed

    Matullo, Giuseppe; Guarrera, Simonetta; Betti, Marta; Fiorito, Giovanni; Ferrante, Daniela; Voglino, Floriana; Cadby, Gemma; Di Gaetano, Cornelia; Rosa, Fabio; Russo, Alessia; Hirvonen, Ari; Casalone, Elisabetta; Tunesi, Sara; Padoan, Marina; Giordano, Mara; Aspesi, Anna; Casadio, Caterina; Ardissone, Francesco; Ruffini, Enrico; Betta, Pier Giacomo; Libener, Roberta; Guaschino, Roberto; Piccolini, Ezio; Neri, Monica; Musk, Arthur W B; de Klerk, Nicholas H; Hui, Jennie; Beilby, John; James, Alan L; Creaney, Jenette; Robinson, Bruce W; Mukherjee, Sutapa; Palmer, Lyle J; Mirabelli, Dario; Ugolini, Donatella; Bonassi, Stefano; Magnani, Corrado; Dianzani, Irma

    2013-01-01

    Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. Nevertheless, only 5-17% of those exposed to asbestos develop MPM, suggesting the involvement of other environmental and genetic risk factors. To identify the genetic risk factors that may contribute to the development of MPM, we conducted a genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs) in Italy, among 407 MPM cases and 389 controls with a complete history of asbestos exposure. A replication study was also undertaken and included 428 MPM cases and 1269 controls from Australia. Although no single marker reached the genome-wide significance threshold, several associations were supported by haplotype-, chromosomal region-, gene- and gene-ontology process-based analyses. Most of these SNPs were located in regions reported to harbor aberrant alterations in mesothelioma (SLC7A14, THRB, CEBP350, ADAMTS2, ETV1, PVT1 and MMP14 genes), causing at most a 2-3-fold increase in MPM risk. The Australian replication study showed significant associations in five of these chromosomal regions (3q26.2, 4q32.1, 7p22.2, 14q11.2, 15q14). Multivariate analysis suggested an independent contribution of 10 genetic variants, with an Area Under the ROC Curve (AUC) of 0.76 when only exposure and covariates were included in the model, and of 0.86 when the genetic component was also included, with a substantial increase of asbestos exposure risk estimation (odds ratio, OR: 45.28, 95% confidence interval, CI: 21.52-95.28). These results showed that genetic risk factors may play an additional role in the development of MPM, and that these should be taken into account to better estimate individual MPM risk in individuals who have been exposed to asbestos. PMID:23626673

  11. A review of the evidence from family, twin and adoption studies for a genetic contribution to adult psychiatric disorders.

    PubMed

    Shih, Regina A; Belmonte, Pamela L; Zandi, Peter P

    2004-11-01

    Family, twin and adoption studies have provided major evidence for the role of genetics in numerous psychiatric disorders including obsessive-compulsive disorder, panic disorder, major depressive disorder, bipolar disorder, schizophrenia and Alzheimer's disease. As the search for patterns of inheritance and candidate genes of these complex disorders continues, we review relevant findings from quantitative genetic studies and outline the main challenges for the field of psychiatric genetics to focus on in order to more definitively establish the underpinnings of genetic and environmental influences of adult psychopathology. PMID:16194760

  12. Empirical study of self-configuring genetic programming algorithm performance and behaviour

    NASA Astrophysics Data System (ADS)

    Semenkin, E.; Semenkina, M.

    2015-01-01

    The behaviour of the self-configuring genetic programming algorithm with a modified uniform crossover operator that implements a selective pressure on the recombination stage, is studied over symbolic programming problems. The operator's probabilistic rates interplay is studied and the role of operator variants on algorithm performance is investigated. Algorithm modifications based on the results of investigations are suggested. The performance improvement of the algorithm is demonstrated by the comparative analysis of suggested algorithms on the benchmark and real world problems.

  13. The Stability of Genetic Determination from Age 2 to Age 9: A Longitudinal Twin Study.

    ERIC Educational Resources Information Center

    Lytton, Hugh; And Others

    A longitudinal investigation of the social and cognitive development of male twins was conducted when twins were 2.5 years of age, and again when they were 8- to 10-years-old. This study was designed to re-examine the heritability of the traits studied at the earlier age and, thus, to address the question of the stability of genetic determination.…

  14. 77 FR 48993 - Proposed Collection; Comment Request; The Sister Study: A Prospective Study of the Genetic and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-15

    ... Environmental Risk Factors for Breast Cancer SUMMARY: In compliance with the requirement of Section 3506(c)(2)(A... Prospective Study of the Genetic and Environmental Risk Factors for Breast Cancer. Type of Information... breast cancer in a high-risk cohort of sisters of women who have had breast cancer. The etiology...

  15. 77 FR 66851 - Submission for OMB Review; Comment Request The Sister Study: A Prospective Study of the Genetic...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-07

    ...: A Prospective Study of the Genetic and Environmental Risk Factors for Breast Cancer SUMMARY: Under... Breast Cancer. Type of Information Collection Request: Revision. Need and Use of Information Collection... risk factors for the development of breast cancer in a high-risk cohort of sisters of women who...

  16. Do Different Measures Tap the Same Genetic Influences? A Multi-Method Study of Activity Level in Young Twins

    ERIC Educational Resources Information Center

    Saudino, Kimberly J.

    2009-01-01

    Activity level (AL) is a highly salient feature of child behaviour that has been linked to developmental outcome. Twin studies of parent-rated, observer-rated and mechanically assessed AL in childhood find that AL is genetically influenced. Few studies, however, consider whether different methods of assessing AL have a shared genetic etiology.…

  17. Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies

    PubMed Central

    Restrepo, Nicole A.; Farber-Eger, Eric; Goodloe, Robert; Haines, Jonathan L.; Crawford, Dana C.

    2015-01-01

    Electronic medical records (EMRs) are being widely implemented for use in genetic and genomic studies. As a phenotypic rich resource, EMRs provide researchers with the opportunity to identify disease cohorts and perform genotype-phenotype association studies. The Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study, as part of the Population Architecture using Genomics and Epidemiology (PAGE) I study, has genotyped more than 15,000 individuals of diverse genetic ancestry in BioVU, the Vanderbilt University Medical Center’s biorepository linked to a de-identified version of the EMR (EAGLE BioVU). Here we develop and deploy an algorithm utilizing data mining techniques to identify primary open-angle glaucoma (POAG) in African Americans from EAGLE BioVU for genetic association studies. The algorithm described here was designed using a combination of diagnostic codes, current procedural terminology billing codes, and free text searches to identify POAG status in situations where gold-standard digital photography cannot be accessed. The case algorithm identified 267 potential POAG subjects but underperformed after manual review with a positive predictive value of 51.6% and an accuracy of 76.3%. The control algorithm identified controls with a negative predictive value of 98.3%. Although the case algorithm requires more downstream manual review for use in large-scale studies, it provides a basis by which to extract a specific clinical subtype of glaucoma from EMRs in the absence of digital photographs. PMID:26061293

  18. Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits

    PubMed Central

    Deming, Yuetiva; Xia, Jian; Cai, Yefei; Lord, Jenny; Del-Aguila, Jorge L.; Fernandez, Maria Victoria; Carrell, David; Black, Kathleen; Budde, John; Ma, ShengMei; Saef, Benjamin; Howells, Bill; Bertelsen, Sarah; Bailey, Matthew; Ridge, Perry G.; Hefti, Franz; Fillit, Howard; Zimmerman, Earl A.; Celmins, Dzintra; Brown, Alice D.; Carrillo, Maria; Fleisher, Adam; Reeder, Stephanie; Trncic, Nadira; Burke, Anna; Tariot, Pierre; Reiman, Eric M.; Chen, Kewei; Sabbagh, Marwan N.; Beiden, Christine M.; Jacobson, Sandra A.; Sirrel, Sherye A.; Doody, Rachelle S.; Villanueva-Meyer, Javier; Chowdhury, Munir; Rountree, Susan; Dang, Mimi; Kowall, Neil; Killiany, Ronald; Budson, Andrew E.; Norbash, Alexander; Johnson, Patricia Lynn; Green, Robert C.; Marshall, Gad; Johnson, Keith A.; Sperling, Reisa A.; Snyder, Peter; Salloway, Stephen; Malloy, Paul; Correia, Stephen; Bernick, Charles; Munic, Donna; Stern, Yaakov; Honig, Lawrence S.; Bell, Karen L.; Relkin, Norman; Chaing, Gloria; Ravdin, Lisa; Paul, Steven; Flashman, Laura A.; Seltzer, Marc; Hynes, Mary L.; Santulli, Robert B.; Bates, Vernice; Capote, Horacio; Rainka, Michelle; Friedl, Karl; Murali Doraiswamy, P.; Petrella, Jeffrey R.; Borges-Neto, Salvador; James, Olga; Wong, Terence; Coleman, Edward; Schwartz, Adam; Cellar, Janet S.; Levey, Allan L.; Lah, James J.; Behan, Kelly; Scott Turner, Raymond; Johnson, Kathleen; Reynolds, Brigid; Pearlson, Godfrey D.; Blank, Karen; Anderson, Karen; Obisesan, Thomas O.; Wolday, Saba; Allard, Joanne; Lerner, Alan; Ogrocki, Paula; Tatsuoka, Curtis; Fatica, Parianne; Farlow, Martin R.; Saykin, Andrew J.; Foroud, Tatiana M.; Shen, Li; Faber, Kelly; Kim, Sungeun; Nho, Kwangsik; Marie Hake, Ann; Matthews, Brandy R.; Brosch, Jared R.; Herring, Scott; Hunt, Cynthia; Albert, Marilyn; Onyike, Chiadi; D’Agostino, Daniel; Kielb, Stephanie; Graff-Radford, Neill R; Parfitt, Francine; Kendall, Tracy; Johnson, Heather; Petersen, Ronald; Jack, Clifford R.; Bernstein, Matthew; Borowski, Bret; Gunter, Jeff; Senjem, Matt; Vemuri, Prashanthi; Jones, David; Kantarci, Kejal; Ward, Chad; Mason, Sara S.; Albers, Colleen S.; Knopman, David; Johnson, Kris; Chertkow, Howard; Hosein, Chris; Mintzer, Jacob; Spicer, Kenneth; Bachman, David; Grossman, Hillel; Mitsis, Effie; Pomara, Nunzio; Hernando, Raymundo; Sarrael, Antero; Potter, William; Buckholtz, Neil; Hsiao, John; Kittur, Smita; Galvin, James E.; Cerbone, Brittany; Michel, Christina A.; Pogorelec, Dana M.; Rusinek, Henry; de Leon, Mony J; Glodzik, Lidia; De Santi, Susan; Johnson, Nancy; Chuang-Kuo; Kerwin, Diana; Bonakdarpour, Borna; Weintraub, Sandra; Grafman, Jordan; Lipowski, Kristine; Mesulam, Marek-Marsel; Scharre, Douglas W.; Kataki, Maria; Adeli, Anahita; Kaye, Jeffrey; Quinn, Joseph; Silbert, Lisa; Lind, Betty; Carter, Raina; Dolen, Sara; Borrie, Michael; Lee, T-Y; Bartha, Rob; Martinez, Walter; Villena, Teresa; Sadowsky, Carl; Khachaturian, Zaven; Ott, Brian R.; Querfurth, Henry; Tremont, Geoffrey; Frank, Richard; Fleischman, Debra; Arfanakis, Konstantinos; Shah, Raj C.; deToledo-Morrell, Leyla; Sorensen, Greg; Finger, Elizabeth; Pasternack, Stephen; Rachinsky, Irina; Drost, Dick; Rogers, John; Kertesz, Andrew; Furst, Ansgar J.; Chad, Stevan; Yesavage, Jerome; Taylor, Joy L.; Lane, Barton; Rosen, Allyson; Tinklenberg, Jared; Black, Sandra; Stefanovic, Bojana; Caldwell, Curtis; Robin Hsiung, Ging-Yuek; Mudge, Benita; Assaly, Michele; Fox, Nick; Schultz, Susan K.; Boles Ponto, Laura L.; Shim, Hyungsub; Ekstam Smith, Karen; Burns, Jeffrey M.; Swerdlow, Russell H.; Brooks, William M.; Marson, Daniel; Griffith, Randall; Clark, David; Geldmacher, David; Brockington, John; Roberson, Erik; Natelson Love, Marissa; DeCarli, Charles; Carmichael, Owen; Olichney, John; Maillard, Pauline; Fletcher, Evan; Nguyen, Dana; Preda, Andrian; Potkin, Steven; Mulnard, Ruth A.; Thai, Gaby; McAdams-Ortiz, Catherine; Landau, Susan; Jagust, William; Apostolova, Liana; Tingus, Kathleen; Woo, Ellen; Silverman, Daniel H.S.; Lu, Po H.; Bartzokis, George; Thompson, Paul; Donohue, Michael; Thomas, Ronald G.; Walter, Sarah; Gessert, Devon; Brewer, James; Vanderswag, Helen; Sather, Tamie; Jiminez, Gus; Balasubramanian, Archana B.; Mason, Jennifer; Sim, Iris; Aisen, Paul; Davis, Melissa; Morrison, Rosemary; Harvey, Danielle; Thal, Lean; Beckett, Laurel; Neylan, Thomas; Finley, Shannon; Weiner, Michael W.; Hayes, Jacqueline; Rosen, Howard J.; Miller, Bruce L.; Perry, David; Massoglia, Dino; Brawman-Mentzer, Olga; Schuff, Norbert; Smith, Charles D.; Hardy, Peter; Sinha, Partha; Oates, Elizabeth; Conrad, Gary; Koeppe, Robert A.; Lord, Joanne L.; Heidebrink, Judith L.; Arnold, Steven E.; Karlawish, Jason H.; Wolk, David; Clark, Christopher M.; Trojanowki, John Q.; Shaw, Leslie M.; Lee, Virginia; Korecka, Magdalena; Figurski, Michal; Toga, Arthur W.; Crawford, Karen; Neu, Scott; Schneider, Lon S.; Pawluczyk, Sonia; Beccera, Mauricio; Teodoro, Liberty; Spann, Bryan M.; Womack, Kyle; Mathews, Dana; Quiceno, Mary; Foster, Norm; Montine, Tom; Fruehling, J. Jay; Harding, Sandra; Johnson, Sterling; Asthana, Sanjay; Carlsson, Cynthia M.; Petrie, Eric C.; Peskind, Elaine; Li, Gail; Porsteinsson, Anton P.; Goldstein, Bonnie S.; Martin, Kim; Makino, Kelly M.; Ismail, M. Saleem; Brand, Connie; Smith, Amanda; Ashok Raj, Balebail; Fargher, Kristin; Kuller, Lew; Mathis, Chet; Ann Oakley, Mary; Lopez, Oscar L.; Simpson, Donna M.; Sink, Kaycee M.; Gordineer, Leslie; Williamson, Jeff D.; Garg, Pradeep; Watkins, Franklin; Cairns, Nigel J.; Raichle, Marc; Morris, John C.; Householder, Erin; Taylor-Reinwald, Lisa; Holtzman, David; Ances, Beau; Carroll, Maria; Creech, Mary L.; Franklin, Erin; Mintun, Mark A.; Schneider, Stacy; Oliver, Angela; Duara, Ranjan; Varon, Daniel; Greig, Maria T.; Roberts, Peggy; Varma, Pradeep; MacAvoy, Martha G.; Carson, Richard E.; van Dyck, Christopher H.; Davies, Peter; Holtzman, David; Morris, John C.; Bales, Kelly; Pickering, Eve H.; Lee, Jin-Moo; Heitsch, Laura; Kauwe, John; Goate, Alison; Piccio, Laura; Cruchaga, Carlos

    2016-01-01

    Genome-wide association studies of 146 plasma protein levels in 818 individuals revealed 56 genome-wide significant associations (28 novel) with 47 analytes. Loci associated with plasma levels of 39 proteins tested have been previously associated with various complex traits such as heart disease, inflammatory bowel disease, Type 2 diabetes, and multiple sclerosis. These data suggest that these plasma protein levels may constitute informative endophenotypes for these complex traits. We found three potential pleiotropic genes: ABO for plasma SELE and ACE levels, FUT2 for CA19-9 and CEA plasma levels, and APOE for ApoE and CRP levels. We also found multiple independent signals in loci associated with plasma levels of ApoH, CA19-9, FetuinA, IL6r, and LPa. Our study highlights the power of biological traits for genetic studies to identify genetic variants influencing clinically relevant traits, potential pleiotropic effects, and complex disease associations in the same locus.

  19. Genetic and environmental contributions to pro-social attitudes: a twin study of social responsibility.

    PubMed Central

    Rushton, J. Philippe

    2004-01-01

    Although 51 twin and adoption studies have been performed on the genetic architecture of antisocial behaviour, only four previous studies have examined a genetic contribution to pro-social behaviour. Earlier work by the author with the University of London Institute of Psychiatry Adult Twin Register found that genes contributed approximately half of the variance to measures of self-report altruism, empathy, nurturance and aggression, including acts of violence. The present study extends those results by using a 22-item Social Responsibility Questionnaire with 174 pairs of monozygotic twins and 148 pairs of dizygotic twins. Forty-two per cent of the reliable variance was due to the twins' genes, 23% to the twins' common environment and the remainder to the twins' non-shared environment. PMID:15615684

  20. The heritability and genetic correlates of mobile phone use: a twin study of consumer behavior.

    PubMed

    Miller, Geoffrey; Zhu, Gu; Wright, Margaret J; Hansell, Narelle K; Martin, Nicholas G

    2012-02-01

    There has been almost no overlap between behavior genetics and consumer behavior research, despite each field's importance in understanding society. In particular, both have neglected to study genetic influences on consumer adoption and usage of new technologies -- even technologies as important as the mobile phone, now used by 5.8 out of 7.0 billion people on earth. To start filling this gap, we analyzed self-reported mobile phone use, intelligence, and personality traits in two samples of Australian teenaged twins (mean ages 14.2 and 15.6 years), totaling 1,036 individuals. ACE modeling using Mx software showed substantial heritabilities for how often teens make voice calls (.60 and .34 in samples 1 and 2, respectively) and for how often they send text messages (.53 and. 50). Shared family environment - including neighborhood, social class, parental education, and parental income (i.e., the generosity of calling plans that parents can afford for their teens) -- had much weaker effects. Multivariate modeling based on cross-twin, cross-trait correlations showed negative genetic correlations between talking/texting frequency and intelligence (around -.17), and positive genetic correlations between talking/texting frequency and extraversion (about .20 to .40). Our results have implications for assessing the risks of mobile phone use such as radiofrequency field (RF) exposure and driving accidents, for studying adoption and use of other emerging technologies, for understanding the genetic architecture of the cognitive and personality traits that predict consumer behavior, and for challenging the common assumption that consumer behavior is shaped entirely by culture, media, and family environment. PMID:22784459

  1. The Genetic and Environmental Contributions to Internet Use and Associations With Psychopathology: A Twin Study.

    PubMed

    Long, Elizabeth C; Verhulst, Brad; Neale, Michael C; Lind, Penelope A; Hickie, Ian B; Martin, Nicholas G; Gillespie, Nathan A

    2016-02-01

    Excessive internet use has been linked to psychopathology. Therefore, understanding the genetic and environmental risks underpinning internet use and their relation to psychopathology is important. This study aims to explore the genetic and environmental etiology of internet use measures and their associations with internalizing disorders and substance use disorders. The sample included 2,059 monozygotic (MZ) and dizygotic (DZ) young adult twins from the Brisbane Longitudinal Twin Study (BLTS). Younger participants reported more frequent internet use, while women were more likely to use the internet for interpersonal communication. Familial aggregation in 'frequency of internet use' was entirely explained by additive genetic factors accounting for 41% of the variance. Familial aggregation in 'frequency of use after 11 pm', 'using the internet to contact peers', and 'using the internet primarily to access social networking sites' was attributable to varying combinations of additive genetic and shared environmental factors. In terms of psychopathology, there were no significant associations between internet use measures and major depression (MD), but there were positive significant associations between 'frequency of internet use' and 'frequency of use after 11 pm' with social phobia (SP). 'Using the internet to contact peers' was positively associated with alcohol abuse, whereas 'using the internet to contact peers' and 'using the internet primarily to access social networking sites' were negatively associated with cannabis use disorders and nicotine symptoms. Individual differences in internet use can be attributable to varying degrees of genetic and environmental risks. Despite some significant associations of small effect, variation in internet use appears mostly unrelated to psychopathology. PMID:26693596

  2. The Genetic and Environmental Contributions to Internet Use and Associations With Psychopathology: A Twin Study

    PubMed Central

    Long, Elizabeth C.; Verhulst, Brad; Neale, Michael C.; Lind, Penelope A.; Hickie, Ian B.; Martin, Nicholas G.; Gillespie, Nathan A.

    2016-01-01

    Excessive internet use has been linked to psychopathology. Therefore, understanding the genetic and environmental risks underpinning internet use and their relation to psychopathology is important. This study aims to explore the genetic and environmental etiology of internet use measures and their associations with internalizing disorders and substance use disorders. The sample included 2,059 monozygotic (MZ) and dizygotic (DZ) young adult twins from the Brisbane Longitudinal Twin Study (BLTS). Younger participants reported more frequent internet use, while women were more likely to use the internet for interpersonal communication. Familial aggregation in ‘frequency of internet use’ was entirely explained by additive genetic factors accounting for 41% of the variance. Familial aggregation in ‘frequency of use after 11 pm’, ‘using the internet to contact peers’, and ‘using the internet primarily to access social networking sites’ was attributable to varying combinations of additive genetic and shared environmental factors. In terms of psychopathology, there were no significant associations between internet use measures and major depression (MD), but there were positive significant associations between ‘frequency of internet use’ and ‘frequency of use after 11 pm’ with social phobia (SP). ‘Using the internet to contact peers’ was positively associated with alcohol abuse, whereas ‘using the internet to contact peers’ and ‘using the internet primarily to access social networking sites’ were negatively associated with cannabis use disorders and nicotine symptoms. Individual differences in internet use can be attributable to varying degrees of genetic and environmental risks. Despite some significant associations of small effect, variation in internet use appears mostly unrelated to psychopathology. PMID:26693596

  3. HYBRIDIZATION STUDY BETWEEN GENETICALLY MODIFIED BRASSICA NAPUS AND NON-GENETICALLY MODIFIED B. NAPUS AND B. RAPA

    EPA Science Inventory

    Gene exchange between cultivated crops and wild species has gained significance in recent years because of concerns regarding the potential for gene flow between genetically modified (GM) crops and their domesticated and wild relatives. As part of our ecological effects of gene ...

  4. The relation of ADHD and violent aggression: What can we learn from epidemiological and genetic studies?

    PubMed

    Retz, Wolfgang; Rösler, Michael

    2009-01-01

    Disruptive behavior includes psychopathological and behavioral constructs like aggression, impulsivity, violence, antisociality and psychopathy and is often closely related with diagnostic categories like conduct disorder (CD), attention deficit disorder (ADHD) and antisocial personality disorder (ASP). There is now clear evidence that neurobiological and environmental factors contribute to these phenotypes. A mounting body of evidence also suggests interactive effects of genetic and environmental risks. In this selective review we give an overview over epidemiological aspects of the relation between ADHD and antisocial behavior, including violent aggression and psychopathy. Moreover, we summarize recent findings from molecular genetic studies and particularly discuss pleiotropic effects of a functional polymorphism of the serotonin transporter promoter gene (5HTTLPR) and childhood adversity on ADHD and violent behavior. The reported gene-environment interactions are not only informative for understanding the neurobiological underpinnings of disruptive behavior, but also throw some light on the relation between ADHD and violent behavior from a genetic perspective. The impact of genetic research on forensic psychiatry and future directions of neurobiological research are discussed. PMID:19411109

  5. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

    PubMed Central

    Rajakulendran, Sanjeev; Pitceathly, Robert D. S.; Taanman, Jan-Willem; Costello, Harry; Sweeney, Mary G.; Woodward, Cathy E.; Jaunmuktane, Zane; Holton, Janice L.; Jacques, Thomas S.; Harding, Brian N.; Fratter, Carl; Hanna, Michael G.; Rahman, Shamima

    2016-01-01

    Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological and mitochondrial genetic features of four unrelated patients with homozygous A467T mutations. One patient presented with the severe and lethal Alpers-Huttenlocher syndrome, which was confirmed on neuropathology, and was found to have a depletion of mitochondrial DNA (mtDNA). Of the remaining three patients, one presented with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), one with a phenotype in the Myoclonic Epilepsy, Myopathy and Sensory Ataxia (MEMSA) spectrum and one with Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO). All three had secondary accumulation of multiple mtDNA deletions. Complete sequence analysis of muscle mtDNA using the MitoChip resequencing chip in all four cases demonstrated significant variation in mtDNA, including a pathogenic MT-ND5 mutation in one patient. These data highlight the variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation, which may result from factors such as the mtDNA genetic background, nuclear genetic modifiers and environmental stressors. PMID:26735972

  6. Genetic-Quantitative Study of the First-Service Pregnancy Probability of Murrah Heifers.

    PubMed

    Fernandes, P B; Marques, K O; de Araujo Neto, F R; de Oliveira, D P; Hurtado-Lugo, N A; Aspilcueta-Borquis, R R; Tonhati, H

    2016-06-01

    Because of the importance of reproduction in stock breeding systems, it is necessary to find selection criteria that increase reproductive efficiency. The aim of this study was to estimate genetic parameters for the probability of conception on first service (PROB) in Murrah heifers, and its association with other traits of economic interest [age at first calving (AFC), service period, calving interval and milk yield at 270 days], with the purpose of evaluating their use as selection criteria. Reproductive information and first lactation records of 1200 Murrah heifers were used to perform two-trait analyses between PROB and the other characteristics. Bayesian inference was used to estimate the variance components, considering PROB as threshold and the other as linear factors. The results demonstrate that this trait has heritability of 0.15, indicating the possibility of a genetic gain by using it for selection. With respect to the genetic correlation estimates, the only high-magnitude association was with AFC (-0.899), which is the current criterion indicating sexual precocity of females. In the light of the parameters estimated, the first-service pregnancy rate is an alternative for indication of sexual precocity, although presenting a smaller genetic gain than the current standard AFC. Nevertheless, additional research should be conducted regarding this trait to assess the economic importance of its use in dairy buffalo production systems. PMID:27117537

  7. What genetic model organisms offer the study of behavior and neural circuits.

    PubMed

    White, Benjamin H

    2016-06-01

    The past decade has witnessed the development of powerful, genetically encoded tools for manipulating and monitoring neuronal function in freely moving animals. These tools are most readily deployed in genetic model organisms and efforts to map the circuits that govern behavior have increasingly focused on worms, flies, zebrafish, and mice. The traditional virtues of these animals for genetic studies in terms of small size, short generation times, and ease of animal husbandry in a laboratory setting have facilitated rapid progress, and the neural basis of an increasing number of behaviors is being established at cellular resolution in each of these animals. The depth and breadth of this analysis should soon offer a significantly more comprehensive understanding of how the circuitry underlying behavior is organized in particular animals and promises to help answer long-standing questions that have waited for such a brain-wide perspective on nervous system function. The comprehensive understanding achieved in genetic model animals is thus likely to make them into paradigmatic examples that will serve as touchstones for comparisons to understand how behavior is organized in other animals, including ourselves. PMID:27328841

  8. Study Of Genetic Diversity Between Grasspea Landraces Using Morphological And Molecular Marker

    NASA Astrophysics Data System (ADS)

    Sedehi, Abbasali Vahabi; Lotfi, Asefeh; Solooki, Mahmood

    2008-01-01

    Grass pea is a beneficial crop to Iran since it has some major advantageous such as high grain and forage quality, high drought tolerance and medium level of salinity tolerance and a good native germplasm variation which accessible for breeding programs. This study was carried out to evaluate morphological traits of the grass pea landraces using a randomized complete block design with 3 replications at Research Farm of Isfahan University of Technology. To evaluate genetic diversity of 14 grass pea landraces from various locations in Iran were investigated using 32 RAPD & ISJ primers at Biocenter of University of Zabol. Analysis of variance indicated a highly significant differences among 14 grass pea landrace for the morphological traits. Average of polymorphism percentage of RAPD primer was 73.9%. Among used primer, 12 random primers showed polymorphism and a total of 56 different bands were observed in the genotypes. Jafar-abad and Sar-chahan genotypes with similarity coefficient of 66% and Khoram-abad 2 and Khoram-abad 7 genotypes with similarity coefficient of 3% were the most related and the most distinct genotypes, respectively. Fourteen primers out of 17 semi random primers produced 70 polymorphic bands which included 56% of the total 126 produced bands. Genetic relatedness among population was investigated using Jacard coefficient and unweighted pair group mean analysis (UPGMA) algorithm. The result of this research verified possibility of use of RAPD & ISJ markers for estimation of genetic diversity, management of genetic resources and determination of repetitive accessions in grass pea.

  9. Genetically at-risk status and individual agency. A qualitative study on asymptomatic women living with genetic risk of breast/ovarian cancer.

    PubMed

    Caiata-Zufferey, Maria

    2015-05-01

    For the last 20 years, genetic tests have allowed unaffected women to determine whether they are predisposed to developing breast/ovarian cancer due to BRCA1/2 gene mutations. In the event of adverse results, women receive a specific label associated with a set of medical recommendations: the genetically at-risk status. This qualitative study adopted a life-course perspective to understand the impact of this status on women's agency. Following a grounded theory design, retrospective biographical interviews were conducted in Switzerland between 2011 and 2013 with 32 unaffected women at risk of developing genetic breast/ovarian cancer and aware of their predisposition for at least three years. The results show that the genetically at-risk status conveys an invitation to transform health into a project, i.e., into a set of planned activities realized in collaboration with the medical system in order to reduce the risk of developing cancer. This health project shapes women's agency in three ways: it enhances, constrains and questions it, thus creating a sense of disorientation about what is considered rational and appropriate in terms of genetic risk management. Based on these findings, the paper concludes by stressing the paradoxes of the genetically at-risk status and the limits of the medical system in managing women designated with it. The paper also suggests that because of the disorientation intrinsic to their situation, genetically at-risk women have to reflexively construct their own health project from a range of available options in ways that are coherent and viable for themselves and their significant others. This process of reflexive construction may be called legitimation. PMID:25813728

  10. Genetic parameters and genome-wide association study of hyperpigmentation of the visceral peritoneum in chickens

    PubMed Central

    2013-01-01

    Background Hyperpigmentation of the visceral peritoneum (HVP) has recently garnered much attention in the poultry industry because of the possible risk to the health of affected animals and the damage it causes to the appearance of commercial chicken carcasses. However, the heritable characters of HVP remain unclear. The objective of this study was to investigate the genetic parameters of HVP by genome-wide association study (GWAS) in chickens. Results HVP was found to be influenced by genetic factors, with a heritability score of 0.33. HVP had positive genetic correlations with growth and carcass traits, such as leg muscle weight (rg = 0.34), but had negative genetic correlations with immune traits, such as the antibody response to Newcastle disease virus (rg = −0.42). The GWAS for HVP using 39,833 single nucleotide polymorphisms indicated the genetic factors associated with HVP displayed an additive effect rather than a dominance effect. In addition, we determined that three genomic regions, involving the 50.5–54.0 Mb region of chicken (Gallus gallus) chromosome 1 (GGA1), the 58.5–60.5 Mb region of GGA1, and the 10.5–12.0 Mb region of GGA20, were strongly associated (P < 6.28 × 10-7) with HVP in chickens. Variants in these regions explained >50% of additive genetic variance for HVP. This study also confirmed that expression of BMP7, which codes for a bone morphogenetic protein and is located in one of the candidate regions, was significantly higher in the visceral peritoneum of Huiyang Beard chickens with HVP than in that of chickens without pigmentation (P < 0.05). Conclusions HVP is a quantitative trait with moderate heritability. Genomic variants resulting in HVP were identified on GGA1 and GGA20, and expression of the BMP7 gene appears to be upregulated in HVP-affected chickens. Findings from this study should be used as a basis for further functional validation of candidate genes involved in HVP. PMID:23679099

  11. Molecular Genetic Studies of Gene Identification for Osteoporosis: The 2009 Update

    PubMed Central

    Xu, Xiang-Hong; Dong, Shan-Shan; Guo, Yan; Yang, Tie-Lin; Lei, Shu-Feng; Papasian, Christopher J.; Zhao, Ming; Deng, Hong-Wen

    2010-01-01

    Osteoporosis is a complex human disease that results in increased susceptibility to fragility fractures. It can be phenotypically characterized using several traits, including bone mineral density, bone size, bone strength, and bone turnover markers. The identification of gene variants that contribute to osteoporosis phenotypes, or responses to therapy, can eventually help individualize the prognosis, treatment, and prevention of fractures and their adverse outcomes. Our previously published reviews have comprehensively summarized the progress of molecular genetic studies of gene identification for osteoporosis and have covered the data available to the end of September 2007. This review represents our continuing efforts to summarize the important and representative findings published between October 2007 and November 2009. The topics covered include genetic association and linkage studies in humans, transgenic and knockout mouse models, as well as gene-expression microarray and proteomics studies. Major results are tabulated for comparison and ease of reference. Comments are made on the notable findings and representative studies for their potential influence and implications on our present understanding of the genetics of osteoporosis. PMID:20357209

  12. Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics

    PubMed Central

    Stranger, Barbara E.; Stahl, Eli A.; Raj, Towfique

    2011-01-01

    Enormous progress in mapping complex traits in humans has been made in the last 5 yr. There has been early success for prevalent diseases with complex phenotypes. These studies have demonstrated clearly that, while complex traits differ in their underlying genetic architectures, for many common disorders the predominant pattern is that of many loci, individually with small effects on phenotype. For some traits, loci of large effect have been identified. For almost all complex traits studied in humans, the sum of the identified genetic effects comprises only a portion, generally less than half, of the estimated trait heritability. A variety of hypotheses have been proposed to explain why this might be the case, including untested rare variants, and gene–gene and gene–environment interaction. Effort is currently being directed toward implementation of novel analytic approaches and testing rare variants for association with complex traits using imputed variants from the publicly available 1000 Genomes Project resequencing data and from direct resequencing of clinical samples. Through integration with annotations and functional genomic data as well as by in vitro and in vivo experimentation, mapping studies continue to characterize functional variants associated with complex traits and address fundamental issues such as epistasis and pleiotropy. This review focuses primarily on the ways in which genome-wide association studies (GWASs) have revolutionized the field of human quantitative genetics. PMID:21115973

  13. Systematic meta-analyses and field synopsis of genetic association studies of violence and aggression

    PubMed Central

    Vassos, E; Collier, D A; Fazel, S

    2014-01-01

    A large number of candidate gene studies for aggression and violence have been conducted. Successful identification of associations between genetic markers and aggression would contribute to understanding the neurobiology of antisocial behavior and potentially provide useful tools for risk prediction and therapeutic targets for high-risk groups of patients and offenders. We systematically reviewed the literature and assessed the evidence on genetic association studies of aggression and related outcomes in order to provide a field synopsis. We searched PubMed and Huge Navigator databases and sought additional data through reviewing reference lists and correspondence with investigators. Genetic association studies were included if outcome data on aggression or violent behavior either as a binary outcome or as a quantitative trait were provided. From 1331 potentially relevant investigations, 185 studies constituting 277 independent associations on 31 genes fulfilled the predetermined selection criteria. Data from variants investigated in three or more samples were combined in meta-analyses and potential sources of heterogeneity were investigated using subgroup analyses. In the primary analyses, which used relaxed inclusion criteria, we found no association between any polymorphism analyzed and aggression at the 5% level of significance. Subgroup analyses, including by severity of outcome, age group, characteristics of the sample and ethnicity, did not demonstrate any consistent findings. Current evidence does not support the use of such genes to predict dangerousness or as markers for therapeutic interventions. PMID:23546171

  14. Studying human disease genes in Caenorhabditis elegans: a molecular genetics laboratory project.

    PubMed

    Cox-Paulson, Elisabeth A; Grana, Theresa M; Harris, Michelle A; Batzli, Janet M

    2012-01-01

    Scientists routinely integrate information from various channels to explore topics under study. We designed a 4-wk undergraduate laboratory module that used a multifaceted approach to study a question in molecular genetics. Specifically, students investigated whether Caenorhabditis elegans can be a useful model system for studying genes associated with human disease. In a large-enrollment, sophomore-level laboratory course, groups of three to four students were assigned a gene associated with either breast cancer (brc-1), Wilson disease (cua-1), ovarian dysgenesis (fshr-1), or colon cancer (mlh-1). Students compared observable phenotypes of wild-type C. elegans and C. elegans with a homozygous deletion in the assigned gene. They confirmed the genetic deletion with nested polymerase chain reaction and performed a bioinformatics analysis to predict how the deletion would affect the encoded mRNA and protein. Students also performed RNA interference (RNAi) against their assigned gene and evaluated whether RNAi caused a phenotype similar to that of the genetic deletion. As a capstone activity, students prepared scientific posters in which they presented their data, evaluated whether C. elegans was a useful model system for studying their assigned genes, and proposed future directions. Assessment showed gains in understanding genotype versus phenotype, RNAi, common bioinformatics tools, and the utility of model organisms. PMID:22665589

  15. The 20th century Danish facial cleft population--epidemiological and genetic-epidemiological studies.

    PubMed

    Christensen, K

    1999-03-01

    Since Dr. Fogh-Andersen's legendary 1942 thesis, the Danish facial cleft population has been one of the most extensively studied in terms of epidemiology and genetic-epidemiology. The etiology of cleft lip and/or palate (CLP) is still largely an enigma, and different results concerning environmental and genetic risk factors are obtained in different countries and regions. This may be due to etiological heterogeneity between settings. Therefore, an in-depth studied area with an ethnically homogeneous population, such as Denmark, has provided one of the best opportunities for progress in CLP etiological research. The present review summarizes epidemiological and genetic-epidemiological studies conducted in the 20th century Danish facial cleft population. Furthermore, analyses of sex differences, time trends and seasonality for more than 7000 CLP cases born in Denmark in the period 1936 to 1987 are presented. The review also points toward the excellent opportunities for continued etiological CLP research in Denmark in the 21st century using already established resources and an on-going prospective cohort study of 100,000 pregnant women. PMID:10213053

  16. Power and sample size calculations for Mendelian randomization studies using one genetic instrument.

    PubMed

    Freeman, Guy; Cowling, Benjamin J; Schooling, C Mary

    2013-08-01

    Mendelian randomization, which is instrumental variable analysis using genetic variants as instruments, is an increasingly popular method of making causal inferences from observational studies. In order to design efficient Mendelian randomization studies, it is essential to calculate the sample sizes required. We present formulas for calculating the power of a Mendelian randomization study using one genetic instrument to detect an effect of a given size, and the minimum sample size required to detect effects for given levels of significance and power, using asymptotic statistical theory. We apply the formulas to some example data and compare the results with those from simulation methods. Power and sample size calculations using these formulas should be more straightforward to carry out than simulation approaches. These formulas make explicit that the sample size needed for Mendelian randomization study is inversely proportional to the square of the correlation between the genetic instrument and the exposure and proportional to the residual variance of the outcome after removing the effect of the exposure, as well as inversely proportional to the square of the effect size. PMID:23934314

  17. Associations Between Genetic Ancestries and Nicotine Metabolism Biomarkers in the Multiethnic Cohort Study.

    PubMed

    Wang, Hansong; Park, Sungshim L; Stram, Daniel O; Haiman, Christopher A; Wilkens, Lynne R; Hecht, Stephen S; Kolonel, Laurence N; Murphy, Sharon E; Le Marchand, Loïc

    2015-12-01

    Differences in internal dose of nicotine and tobacco-derived carcinogens among ethnic/racial groups have been observed. In this study, we explicitly examined the relationships between genetic ancestries (genome-wide average) and 19 tobacco-derived biomarkers in smokers from 3 admixed groups in the Multiethnic Cohort Study (1993-present), namely, African ancestry in African Americans (n = 362), Amerindian ancestry in Latinos (n = 437), and Asian and Native Hawaiian ancestries in Native Hawaiians (n = 300). After multiple comparison adjustment, both African and Asian ancestries were significantly related to a greater level of free cotinine; African ancestry was also significantly related to lower cotinine glucuronidation (P's < 0.00156). The predicted decrease in cotinine glucuronidation was 8.6% (P = 4.5 × 10(-6)) per a 20% increase in African ancestry. Follow-up admixture mapping revealed that African ancestry in a 12-Mb region on chromosome 4q was related to lower cotinine glucuronidation (P's < 2.7 × 10(-7), smallest P = 1.5 × 10(-9)), although this is the same region reported in our previous genome-wide association study. Our results implicate a genetic ancestral component in the observed ethnic/racial variation in nicotine metabolism. Further studies are needed to identify the underlying genetic variation that could potentially be ethnic/racial specific. PMID:26568573

  18. The Genetics of Extreme Longevity: Lessons from the New England Centenarian Study

    PubMed Central

    Sebastiani, Paola; Perls, Thomas T.

    2012-01-01

    The New England Centenarian Study (NECS) was founded in 1994 as a longitudinal study of centenarians to determine if centenarians could be a model of healthy human aging. Over time, the NECS along with other centenarian studies have demonstrated that the majority of centenarians markedly delay high mortality risk-associated diseases toward the ends of their lives, but many centenarians have a history of enduring more chronic age-related diseases for many years, women more so than men. However, the majority of centenarians seem to deal with these chronic diseases more effectively, not experiencing disability until well into their nineties. Unlike most centenarians who are less than 101 years old, people who live to the most extreme ages, e.g., 107+ years, are generally living proof of the compression of morbidity hypothesis. That is, they compress morbidity and disability to the very ends of their lives. Various studies have also demonstrated a strong familial component to extreme longevity and now evidence particularly from the NECS is revealing an increasingly important genetic component to survival to older and older ages beyond 100 years. It appears to us that this genetic component consists of many genetic modifiers each with modest effects, but as a group they can have a strong influence. PMID:23226160

  19. Analytical strategies for discovery and replication of genetic effects in pharmacogenomic studies

    PubMed Central

    Kohler, Jared R; Guennel, Tobias; Marshall, Scott L

    2014-01-01

    In the past decade, the pharmaceutical industry and biomedical research sector have devoted considerable resources to pharmacogenomics (PGx) with the hope that understanding genetic variation in patients would deliver on the promise of personalized medicine. With the advent of new technologies and the improved collection of DNA samples, the roadblock to advancements in PGx discovery is no longer the lack of high-density genetic information captured on patient populations, but rather the development, adaptation, and tailoring of analytical strategies to effectively harness this wealth of information. The current analytical paradigm in PGx considers the single-nucleotide polymorphism (SNP) as the genomic feature of interest and performs single SNP association tests to discover PGx effects – ie, genetic effects impacting drug response. While it can be straightforward to process single SNP results and to consider how this information may be extended for use in downstream patient stratification, the rate of replication for single SNP associations has been low and the desired success of producing clinically and commercially viable biomarkers has not been realized. This may be due to the fact that single SNP association testing is suboptimal given the complexities of PGx discovery in the clinical trial setting, including: 1) relatively small sample sizes; 2) diverse clinical cohorts within and across trials due to genetic ancestry (potentially impacting the ability to replicate findings); and 3) the potential polygenic nature of a drug response. Subsequently, a shift in the current paradigm is proposed: to consider the gene as the genomic feature of interest in PGx discovery. The proof-of-concept study presented in this manuscript demonstrates that genomic region-based association testing has the potential to improve the power of detecting single SNP or complex PGx effects in the discovery stage (by leveraging the underlying genetic architecture and reducing the

  20. The Palau Early Psychosis Study: Distribution of Cases by Level of Genetic Risk

    PubMed Central

    Myles-Worsley, Marina; Blailes, Francisca; Ord, Lisa M.; Weaver, Starla; Dever, Gregory; Faraone, Stephen V.

    2008-01-01

    The Palau Early Psychosis Study (PEPS) was designed to examine the pathogenesis of early psychosis in a high risk population isolate. This paper describes the characteristics of our community-based, non-help seeking sample of 404 Palauan adolescents and quantifies the presence of early psychosis by level of genetic risk. The sample included 53 offspring of a schizophrenic parent designated as “Genetically Highest Risk” (GHR+) and 68 nieces/nephews of sib-pairs/trios, designated as “Genetically High Risk” (GHR). The remaining subjects were recruited through a high school survey that identified 62 “Genetically Moderate Risk” (GMR) adolescents with an affected 2nd or 3rd degree relative and 221 “Genetically Low Risk” (GLR) subjects with no close affected relatives. The GLR adolescents included 117 symptomatic or “Clinically High Risk” (CHR) adolescents and 104 asymptomatic normal controls. Based on a modified K-SADS-PL assessment, we identified 221 adolescents with early psychosis, 62 or 28% of whom had already transitioned to a psychotic disorder. Together, the two highest risk groups contributed 31% of the adolescent-onset psychosis cases and 27% of the prodromals. More than half of the early psychosis cases (53%) were GLR adolescents. The mean age of onset for DSM-IV psychosis was 12.9 years, and males transitioned at an earlier age than females. Our results indicate that Palauan adolescents, even GLR adolescents with no close affected relatives, have elevated rates of early psychosis. These young subjects can contribute valuable information about the familial transmission of schizophrenia, the developmental course of the illness, and rates of transition to frank psychosis. PMID:17034019

  1. The Palau Early Psychosis Study: distribution of cases by level of genetic risk.

    PubMed

    Myles-Worsley, Marina; Blailes, Francisca; Ord, Lisa M; Weaver, Starla; Dever, Gregory; Faraone, Stephen V

    2007-01-01

    The Palau Early Psychosis Study (PEPS) was designed to examine the pathogenesis of early psychosis in a high-risk population isolate. This paper describes the characteristics of our community-based, non-help seeking sample of 404 Palauan adolescents and quantifies the presence of early psychosis by level of genetic risk. The sample included 53 offspring of a schizophrenic parent designated as "Genetically Highest Risk" (GHR+) and 68 nieces/nephews of sib-pairs/trios, designated as "Genetically High Risk" (GHR). The remaining subjects were recruited through a high school survey that identified 62 "Genetically Moderate Risk" (GMR) adolescents with an affected second or third degree relative and 221 "Genetically Low Risk" (GLR) subjects with no close affected relatives. The GLR adolescents included 117 symptomatic or "Clinically High Risk" (CHR) adolescents and 104 asymptomatic normal controls. Based on a modified K-SADS-PL assessment, we identified 221 adolescents with early psychosis, 62 or 28% of whom had already transitioned to a psychotic disorder. Together, the two highest risk groups contributed 31% of the adolescent-onset psychosis cases and 27% of the prodromals. More than half of the early psychosis cases (53%) were GLR adolescents. The mean age of onset for DSM-IV psychosis was 12.9 years, and males transitioned at an earlier age than females. Our results indicate that Palauan adolescents, even GLR adolescents with no close affected relatives, have elevated rates of early psychosis. These young subjects can contribute valuable information about the familial transmission of schizophrenia, the developmental course of the illness, and rates of transition to frank psychosis. PMID:17034019

  2. Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.

    PubMed

    Paneque, Milena; Sequeiros, Jorge; Skirton, Heather

    2015-11-01

    Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice. PMID:25689925

  3. Mapping the Regional Influence of Genetics on Brain Structure Variability - A Tensor-Based Morphometry Study

    PubMed Central

    Brun, Caroline; Leporé, Natasha; Pennec, Xavier; Lee, Agatha D.; Barysheva, Marina; Madsen, Sarah K.; Avedissian, Christina; Chou, Yi-Yu; de Zubicaray, Greig I.; McMahon, Katie; Wright, Margaret; Toga, Arthur W.; Thompson, Paul M.

    2010-01-01

    Genetic and environmental factors influence brain structure and function profoundly The search for heritable anatomical features and their influencing genes would be accelerated with detailed 3D maps showing the degree to which brain morphometry is genetically determined. As part of an MRI study that will scan 1150 twins, we applied Tensor-Based Morphometry to compute morphometric differences in 23 pairs of identical twins and 23 pairs of same-sex fraternal twins (mean age: 23.8 ± 1.8 SD years). All 92 twins’ 3D brain MRI scans were nonlinearly registered to a common space using a Riemannian fluid-based warping approach to compute volumetric differences across subjects. A multi-template method was used to improve volume quantification. Vector fields driving each subject’s anatomy onto the common template were analyzed to create maps of local volumetric excesses and deficits relative to the standard template. Using a new structural equation modeling method, we computed the voxelwise proportion of variance in volumes attributable to additive (A) or dominant (D) genetic factors versus shared environmental (C) or unique environmental factors (E). The method was also applied to various anatomical regions of interest (ROIs). As hypothesized, the overall volumes of the brain, basal ganglia, thalamus, and each lobe were under strong genetic control; local white matter volumes were mostly controlled by common environment. After adjusting for individual differences in overall brain scale, genetic influences were still relatively high in the corpus callosum and in early-maturing brain regions such as the occipital lobes, while environmental influences were greater in frontal brain regions which have a more protracted maturational time-course. PMID:19446645

  4. Use of Embryos Extracted from Individual Cannabis sativa Seeds for Genetic Studies and Forensic Applications.

    PubMed

    Soler, Salvador; Borràs, Dionís; Vilanova, Santiago; Sifres, Alicia; Andújar, Isabel; Figàs, Maria R; Llosa, Ernesto R; Prohens, Jaime

    2016-03-01

    Legal limits on the psychoactive tetrahydrocannabinol (THC) content in Cannabis sativa plants have complicated genetic and forensic studies in this species. However, Cannabis seeds present very low THC levels. We developed a method for embryo extraction from seeds and an improved protocol for DNA extraction and tested this method in four hemp and six marijuana varieties. This embryo extraction method enabled the recovery of diploid embryos from individual seeds. An improved DNA extraction protocol (CTAB3) was used to obtain DNA from individual embryos at a concentration and quality similar to DNA extracted from leaves. DNA extracted from embryos was used for SSR molecular characterization in individuals from the 10 varieties. A unique molecular profile for each individual was obtained, and a clear differentiation between hemp and marijuana varieties was observed. The combined embryo extraction-DNA extraction methodology and the new highly polymorphic SSR markers facilitate genetic and forensic studies in Cannabis. PMID:27404624

  5. Important Considerations for Recruiting Women to Cancer Genetics Studies in Puerto Rico

    PubMed Central

    August, Euna M.; Quinn, Gwen P.; Perales, Rossybelle; Closser, Zuheily; Dutil, Julie; Puig, Marieva; Vadaparampil, Susan T.

    2015-01-01

    A goal of the Minority Institution/Cancer Center Partnership between the Ponce School of Medicine in Puerto Rico and the H. Lee Moffitt Cancer Center & Research Institute in Florida is to provide cross-cultural training in cancer research. This is achieved through a collaborative summer exchange program, which provides US students with an opportunity to conduct research in Puerto Rico. As part of this program, students recruited participants and collected data for a study to enhance the understanding of sociocultural factors among Puerto Rican women regarding genetic testing for hereditary breast/ovarian cancer. Limited studies have examined cancer genetics issues among Latinos, particularly those specific to the various Latino subgroups, such as Puerto Ricans. As a result of the student training experience, culturally appropriate strategies for the recruitment of women in Puerto Rico have been identified. These recommendations can inform the design of cancer research projects and interventions targeting the Puerto Rican population. PMID:21866412

  6. From a dry bone to a genetic portrait: a case study of sickle cell anemia.

    PubMed

    Faerman, M; Nebel, A; Filon, D; Thomas, M G; Bradman, N; Ragsdale, B D; Schultz, M; Oppenheim, A

    2000-02-01

    The potential and reliability of DNA analysis for the identification of human remains are demonstrated by the study of a recent bone sample, which represented a documented case of sickle cell anemia. beta-globin gene sequences obtained from the specimen revealed homozygosity for the sickle cell mutation, proving the authenticity of the retrieved residual DNA. Further investigation of mitochondrial and Y chromosome DNA polymorphic markers indicated that this sample came from a male of maternal West African (possibly Yoruban) and paternal Bantu lineages. The medical record, which became available after the DNA analyses had been completed, revealed that it belonged to a Jamaican black male. These findings are consistent with this individual being a descendent of Africans brought to Jamaica during the trans-Atlantic slave trade. This study exemplifies how a "reverse population genetics" approach can be applied to reconstruct a genetic profile from a bone specimen of an unknown individual. PMID:10640943

  7. [Lupus nephropathy in childhood and familial lupus. Genetic study of a family].

    PubMed

    Gómez Campdera, F J; Yebra, M; Vicario, J L; Rodríguez, M; Rengel, M; Manzano, L; Martín Villa, J M; Gutiérrez, C

    1989-04-15

    We report a case of a 14 1/2-year-old boy who was diagnosed of systemic lupus erythematosus in the background of an acute nephritic syndrome, 3 1/2 years after being diagnosed of idiopathic thrombocytopenic purpura. The familial history suggested the presence of other cases of SLE, which were proven with relevant clinical and laboratory studies. A genetic study for disease markers was carried out and a correlation was found with haplotypes HLA A25, B18, BW6, DRX, and DQW; C2 deficiency was ruled out. We conclude that it is of paramount importance to rule out the existence of familial SLE in front of infantile SLE, particularly in boys, and we emphasize the necessity of keeping on further searching for genetic markers of the disease. PMID:2755225

  8. Brain eQTL Mapping Informs Genetic Studies of Psychiatric Diseases

    PubMed Central

    Liu, Chunyu

    2011-01-01

    Genome-wide association studies (GWASs) have been used to identify genes that increase risk of psychiatric diseases. However, much of the variation in disease risk is still unexplained, suggesting that there are genes still to be discovered. Functional annotation of genetic variants may increase the power of GWASs to identify disease genes by providing prior information that can be used in Bayesian analysis or in reducing the number of tests. Genetic mapping of expression quantitative trait loci (eQTLs) is helping us to reveal novel functional effects of thousands of single nucleotide polymorphisms (SNPs). The published brain eQTL studies are reviewed here, and major methodological issues and their possible solutions are discussed. We emphasize the frequently-ignored problems of batch effects, covariates, and multiple testing, all of which can lead to false positives and false negatives. The future application of eQTL data to the GWAS analysis is also discussed. PMID:21441974

  9. Study on morphology, pathogenicity, and genetic variability of Beauveria bassiana isolates obtained from Boophilus microplus tick.

    PubMed

    Fernandes, Everton Kort Kamp; Costa, Gisela Lara; Moraes, Aurea Maria Lage; Zahner, Viviane; Bittencourt, Vânia Rita Elias Pinheiro

    2006-03-01

    Fifty isolates of Beauveria bassiana (Balsamo) Vuillemin, 1912 (Ascomycota: Clavicipitaceae) were analyzed by morphology, for their pathogenic potential to Boophilus microplus (Canestrini, 1887) (Acari: Ixodidae) larvae, and by Random Amplified Polymorphic DNA-Polymerase Chain Reaction technique. Morphological analysis demonstrated that isolates present characteristics compatible to those described for B. bassiana in the literature. Virulence test demonstrated that all isolates present lethal effect on larvae and that the lethal concentration varies among isolates. The most virulent isolate was the only one obtained from human infection, which was also the only isolate presenting synnemata. The study on genetic variability among the isolates allowed the identification of 23 electrophoretic profiles. The established groupings suggest that most of the isolates obtained from B. microplus of the same locality present low genetic variation. In this way, the data in the present study will contribute to a meticulous characterization of these B. bassiana isolates. PMID:16374618

  10. The era of genome-wide association studies: opportunities and challenges for asthma genetics.

    PubMed

    Zhang, Guicheng; Goldblatt, Jack; LeSouëf, Peter

    2009-11-01

    In the era of genome-wide association (GWA) studies, delineating pathogenic asthma genetic pathways has provided both challenges and opportunities. Initial GWA studies on asthma and asthma-like phenotypes provided some successes in terms of ascertaining new potential asthma candidate genes. However, due to asthma having a heterogeneous etiology, replications of these genotype-phenotype association studies are generally lacking. Furthermore, genes by environment interactions are generally not considered when GWA studies are conducted. Therefore, there is a need for extensive collaborations in multi-disciplinary research fields, including different environments and populations, to investigate the functional importance of variations in the human genome in relation to asthma pathogenesis. PMID:19816512

  11. Genetic associations with neuroendocrine tumor risk: results from a genome-wide association study.

    PubMed

    Du, Yeting; Ter-Minassian, Monica; Brais, Lauren; Brooks, Nichole; Waldron, Amanda; Chan, Jennifer A; Lin, Xihong; Kraft, Peter; Christiani, David C; Kulke, Matthew H

    2016-08-01

    The etiology of neuroendocrine tumors remains poorly defined. Although neuroendocrine tumors are in some cases associated with inherited genetic syndromes, such syndromes are rare. The majority of neuroendocrine tumors are thought to be sporadic. We performed a genome-wide association study (GWAS) to identify potential genetic risk factors for sporadic neuroendocrine tumors. Using germline DNA from blood specimens, we genotyped 909,622 SNPs using the Affymetrix 6.0 GeneChip, in a cohort comprising 832 neuroendocrine tumor cases from Dana-Farber Cancer Institute and Massachusetts General Hospital and 4542 controls from the Harvard School of Public Health. An additional 241 controls from Dana-Farber Cancer Institute were used for quality control. We assessed risk associations in the overall cohort, and in neuroendocrine tumor subgroups. We identified no potential risk associations in the cohort overall. In the small intestine neuroendocrine tumor subgroup, comprising 293 cases, we identified risk associations with three SNPs on chromosome 12, all in strong LD. The three SNPs are located upstream of ELK3, a transcription factor implicated in angiogenesis. We did not identify clear risk associations in the bronchial or pancreatic neuroendocrine subgroups. This large-scale study provides initial evidence that presumed sporadic small intestine neuroendocrine tumors may have a genetic etiology. Our results provide a basis for further exploring the role of genes implicated in this analysis, and for replication studies to confirm the observed associations. Additional studies to evaluate potential genetic risk factors for sporadic pancreatic and bronchial neuroendocrine tumors are warranted. PMID:27492634

  12. Ecological speciation in the tropics: insights from comparative genetic studies in Amazonia.

    PubMed

    Beheregaray, Luciano B; Cooke, Georgina M; Chao, Ning L; Landguth, Erin L

    2014-01-01

    Evolution creates and sustains biodiversity via adaptive changes in ecologically relevant traits. Ecologically mediated selection contributes to genetic divergence both in the presence or absence of geographic isolation between populations, and is considered an important driver of speciation. Indeed, the genetics of ecological speciation is becoming increasingly studied across a variety of taxa and environments. In this paper we review the literature of ecological speciation in the tropics. We report on low research productivity in tropical ecosystems and discuss reasons accounting for the rarity of studies. We argue for research programs that simultaneously address biogeographical and taxonomic questions in the tropics, while effectively assessing relationships between reproductive isolation and ecological divergence. To contribute toward this goal, we propose a new framework for ecological speciation that integrates information from phylogenetics, phylogeography, population genomics, and simulations in evolutionary landscape genetics (ELG). We introduce components of the framework, describe ELG simulations (a largely unexplored approach in ecological speciation), and discuss design and experimental feasibility within the context of tropical research. We then use published genetic datasets from populations of five codistributed Amazonian fish species to assess the performance of the framework in studies of tropical speciation. We suggest that these approaches can assist in distinguishing the relative contribution of natural selection from biogeographic history in the origin of biodiversity, even in complex ecosystems such as Amazonia. We also discuss on how to assess ecological speciation using ELG simulations that include selection. These integrative frameworks have considerable potential to enhance conservation management in biodiversity rich ecosystems and to complement historical biogeographic and evolutionary studies of tropical biotas. PMID:25653668

  13. Characterization of the basal angiosperm Aristolochia fimbriata: a potential experimental system for genetic studies

    PubMed Central

    2013-01-01

    Background Previous studies in basal angiosperms have provided insight into the diversity within the angiosperm lineage and helped to polarize analyses of flowering plant evolution. However, there is still not an experimental system for genetic studies among basal angiosperms to facilitate comparative studies and functional investigation. It would be desirable to identify a basal angiosperm experimental system that possesses many of the features found in existing plant model systems (e.g., Arabidopsis and Oryza). Results We have considered all basal angiosperm families for general characteristics important for experimental systems, including availability to the scientific community, growth habit, and membership in a large basal angiosperm group that displays a wide spectrum of phenotypic diversity. Most basal angiosperms are woody or aquatic, thus are not well-suited for large scale cultivation, and were excluded. We further investigated members of Aristolochiaceae for ease of culture, life cycle, genome size, and chromosome number. We demonstrated self-compatibility for Aristolochia elegans and A. fimbriata, and transformation with a GFP reporter construct for Saruma henryi and A. fimbriata. Furthermore, A. fimbriata was easily cultivated with a life cycle of just three months, could be regenerated in a tissue culture system, and had one of the smallest genomes among basal angiosperms. An extensive multi-tissue EST dataset was produced for A. fimbriata that includes over 3.8 million 454 sequence reads. Conclusions Aristolochia fimbriata has numerous features that facilitate genetic studies and is suggested as a potential model system for use with a wide variety of technologies. Emerging genetic and genomic tools for A. fimbriata and closely related species can aid the investigation of floral biology, developmental genetics, biochemical pathways important in plant-insect interactions as well as human health, and various other features present in early angiosperms

  14. Ecological speciation in the tropics: insights from comparative genetic studies in Amazonia

    PubMed Central

    Beheregaray, Luciano B.; Cooke, Georgina M.; Chao, Ning L.; Landguth, Erin L.

    2015-01-01

    Evolution creates and sustains biodiversity via adaptive changes in ecologically relevant traits. Ecologically mediated selection contributes to genetic divergence both in the presence or absence of geographic isolation between populations, and is considered an important driver of speciation. Indeed, the genetics of ecological speciation is becoming increasingly studied across a variety of taxa and environments. In this paper we review the literature of ecological speciation in the tropics. We report on low research productivity in tropical ecosystems and discuss reasons accounting for the rarity of studies. We argue for research programs that simultaneously address biogeographical and taxonomic questions in the tropics, while effectively assessing relationships between reproductive isolation and ecological divergence. To contribute toward this goal, we propose a new framework for ecological speciation that integrates information from phylogenetics, phylogeography, population genomics, and simulations in evolutionary landscape genetics (ELG). We introduce components of the framework, describe ELG simulations (a largely unexplored approach in ecological speciation), and discuss design and experimental feasibility within the context of tropical research. We then use published genetic datasets from populations of five codistributed Amazonian fish species to assess the performance of the framework in studies of tropical speciation. We suggest that these approaches can assist in distinguishing the relative contribution of natural selection from biogeographic history in the origin of biodiversity, even in complex ecosystems such as Amazonia. We also discuss on how to assess ecological speciation using ELG simulations that include selection. These integrative frameworks have considerable potential to enhance conservation management in biodiversity rich ecosystems and to complement historical biogeographic and evolutionary studies of tropical biotas. PMID:25653668

  15. Middle East respiratory syndrome coronavirus (MERS-CoV) RNA and neutralising antibodies in milk collected according to local customs from dromedary camels, Qatar, April 2014.

    PubMed

    Reusken, C B; Farag, E A; Jonges, M; Godeke, G J; El-Sayed, A M; Pas, S D; Raj, V S; Mohran, K A; Moussa, H A; Ghobashy, H; Alhajri, F; Ibrahim, A K; Bosch, B J; Pasha, S K; Al-Romaihi, H E; Al-Thani, M; Al-Marri, S A; AlHajri, M M; Haagmans, B L; Koopmans, M P

    2014-01-01

    Antibodies to Middle East respiratory syndrome coronavirus (MERS-CoV) were detected in serum and milk collected according to local customs from 33 camels in Qatar, April 2014. At one location, evidence for active virus shedding in nasal secretions and/or faeces was observed for 7/12 camels; viral RNA was detected in milk of five of these seven camels. The presence of MERS-CoV RNA in milk of camels actively shedding the virus warrants measures to prevent putative food-borne transmission of MERS-CoV. PMID:24957745

  16. The decision-making process of genetically at-risk couples considering preimplantation genetic diagnosis: initial findings from a grounded theory study.

    PubMed

    Hershberger, Patricia E; Gallo, Agatha M; Kavanaugh, Karen; Olshansky, Ellen; Schwartz, Alan; Tur-Kaspa, Ilan

    2012-05-01

    Exponential growth in genomics has led to public and private initiatives worldwide that have dramatically increased the number of procreative couples who are aware of their ability to transmit genetic disorders to their future children. Understanding how couples process the meaning of being genetically at-risk for their procreative life lags far behind the advances in genomic and reproductive sciences. Moreover, society, policy makers, and clinicians are not aware of the experiences and nuances involved when modern couples are faced with using Preimplantation Genetic Diagnosis (PGD). The purpose of this study was to discover the decision-making process of genetically at-risk couples as they decide whether to use PGD to prevent the transmission of known single-gene or sex-linked genetic disorders to their children. A qualitative, grounded theory design guided the study in which 22 couples (44 individual partners) from the USA, who were actively considering PGD, participated. Couples were recruited from June 2009 to May 2010 from the Internet and from a large PGD center and a patient newsletter. In-depth semi-structured interviews were completed with each individual partner within the couple dyad, separate from their respective partner. We discovered that couples move through four phases (Identify, Contemplate, Resolve, Engage) of a complex, dynamic, and iterative decision-making process where multiple, sequential decisions are made. In the Identify phase, couples acknowledge the meaning of their at-risk status. Parenthood and reproductive options are explored in the Contemplate phase, where 41% of couples remained for up to 36 months before moving into the Resolve phase. In Resolve, one of three decisions about PGD use is reached, including: Accepting, Declining, or Oscillating. Actualizing decisions occur in the Engage phase. Awareness of the decision-making process among genetically at-risk couples provides foundational work for understanding critical processes

  17. Genetic and environmental determinants of violence risk in psychotic disorders: a multivariate quantitative genetic study of 1.8 million Swedish twins and siblings

    PubMed Central

    Sariaslan, A; Larsson, H; Fazel, S

    2016-01-01

    Patients diagnosed with psychotic disorders (for example, schizophrenia and bipolar disorder) have elevated risks of committing violent acts, particularly if they are comorbid with substance misuse. Despite recent insights from quantitative and molecular genetic studies demonstrating considerable pleiotropy in the genetic architecture of these phenotypes, there is currently a lack of large-scale studies that have specifically examined the aetiological links between psychotic disorders and violence. Using a sample of all Swedish individuals born between 1958 and 1989 (n=3 332 101), we identified a total of 923 259 twin-sibling pairs. Patients were identified using the National Patient Register using validated algorithms based on International Classification of Diseases (ICD) 8–10. Univariate quantitative genetic models revealed that all phenotypes (schizophrenia, bipolar disorder, substance misuse, and violent crime) were highly heritable (h2=53–71%). Multivariate models further revealed that schizophrenia was a stronger predictor of violence (r=0.32; 95% confidence interval: 0.30–0.33) than bipolar disorder (r=0.23; 0.21–0.25), and large proportions (51–67%) of these phenotypic correlations were explained by genetic factors shared between each disorder, substance misuse, and violence. Importantly, we found that genetic influences that were unrelated to substance misuse explained approximately a fifth (21% 20–22%) of the correlation with violent criminality in bipolar disorder but none of the same correlation in schizophrenia (Pbipolar disorder<0.001; Pschizophrenia=0.55). These findings highlight the problems of not disentangling common and unique sources of covariance across genetically similar phenotypes as the latter sources may include aetiologically important clues. Clinically, these findings underline the importance of assessing risk of different phenotypes together and integrating interventions for psychiatric disorders, substance misuse, and

  18. Genetic and environmental determinants of violence risk in psychotic disorders: a multivariate quantitative genetic study of 1.8 million Swedish twins and siblings.

    PubMed

    Sariaslan, A; Larsson, H; Fazel, S

    2016-09-01

    Patients diagnosed with psychotic disorders (for example, schizophrenia and bipolar disorder) have elevated risks of committing violent acts, particularly if they are comorbid with substance misuse. Despite recent insights from quantitative and molecular genetic studies demonstrating considerable pleiotropy in the genetic architecture of these phenotypes, there is currently a lack of large-scale studies that have specifically examined the aetiological links between psychotic disorders and violence. Using a sample of all Swedish individuals born between 1958 and 1989 (n=3 332 101), we identified a total of 923 259 twin-sibling pairs. Patients were identified using the National Patient Register using validated algorithms based on International Classification of Diseases (ICD) 8-10. Univariate quantitative genetic models revealed that all phenotypes (schizophrenia, bipolar disorder, substance misuse, and violent crime) were highly heritable (h(2)=53-71%). Multivariate models further revealed that schizophrenia was a stronger predictor of violence (r=0.32; 95% confidence interval: 0.30-0.33) than bipolar disorder (r=0.23; 0.21-0.25), and large proportions (51-67%) of these phenotypic correlations were explained by genetic factors shared between each disorder, substance misuse, and violence. Importantly, we found that genetic influences that were unrelated to substance misuse explained approximately a fifth (21%; 20-22%) of the correlation with violent criminality in bipolar disorder but none of the same correlation in schizophrenia (Pbipolar disorder<0.001; Pschizophrenia=0.55). These findings highlight the problems of not disentangling common and unique sources of covariance across genetically similar phenotypes as the latter sources may include aetiologically important clues. Clinically, these findings underline the importance of assessing risk of different phenotypes together and integrating interventions for psychiatric disorders, substance misuse, and violence

  19. Genes and the ageing muscle: a review on genetic association studies.

    PubMed

    Garatachea, Nuria; Lucía, Alejandro

    2013-02-01

    Western populations are living longer. Ageing decline in muscle mass and strength (i.e. sarcopenia) is becoming a growing public health problem, as it contributes to the decreased capacity for independent living. It is thus important to determine those genetic factors that interact with ageing and thus modulate functional capacity and skeletal muscle phenotypes in older people. It would be also clinically relevant to identify 'unfavourable' genotypes associated with accelerated sarcopenia. In this review, we summarized published information on the potential associations between some genetic polymorphisms and muscle phenotypes in older people. A special emphasis was placed on those candidate polymorphisms that have been more extensively studied, i.e. angiotensin-converting enzyme (ACE) gene I/D, α-actinin-3 (ACTN3) R577X, and myostatin (MSTN) K153R, among others. Although previous heritability studies have indicated that there is an important genetic contribution to individual variability in muscle phenotypes among old people, published data on specific gene variants are controversial. The ACTN3 R577X polymorphism could influence muscle function in old women, yet there is controversy with regards to which allele (R or X) might play a 'favourable' role. Though more research is needed, up-to-date MSTN genotype is possibly the strongest candidate to explain variance among muscle phenotypes in the elderly. Future studies should take into account the association between muscle phenotypes in this population and complex gene-gene and gene-environment interactions. PMID:22037866

  20. Multigeneration reproductive and developmental toxicity study of bar gene inserted into genetically modified potato on rats.

    PubMed

    Rhee, Gyu Seek; Cho, Dae Hyun; Won, Yong Hyuck; Seok, Ji Hyun; Kim, Soon Sun; Kwack, Seung Jun; Lee, Rhee Da; Chae, Soo Yeong; Kim, Jae Woo; Lee, Byung Mu; Park, Kui Lea; Choi, Kwang Sik

    2005-12-10

    Each specific protein has an individual gene encoding it, and a foreign gene introduced to a plant can be used to synthesize a new protein. The identification of potential reproductive and developmental toxicity from novel proteins produced by genetically modified (GM) crops is a difficult task. A science-based risk assessment is needed in order to use GM crops as a conventional foodstuff. In this study, the specific characteristics of GM food and low-level chronic exposure were examined using a five-generation animal study. In each generation, rats were fed a solid pellet containing 5% GM potato and non-GM potato for 10 wk prior to mating in order to assess the potential reproductive and developmental toxic effects. In the multigeneration animal study, there were no GM potato-related changes in body weight, food consumption, reproductive performance, and organ weight. Polymerase chain reaction (PCR) was carried out using extracted genomic DNA to examine the possibility of gene persistence in the organ tissues after a long-term exposure to low levels of GM feed. In each generation, the gene responsible for bar was not found in any of the reproductive organs of the GM potato-treated male and female rats, and the litter-related indexes did not show any genetically modified organism (GMO)-related changes. The results suggest that genetically modified crops have no adverse effects on the multigeneration reproductive-developmental ability. PMID:16326439