Cardiovascular disease, diabetes and established risk factors among populations of sub-Saharan African descent in Europe: a literature review

PubMed Central

Agyemang, Charles; Addo, Juliet; Bhopal, Raj; de Graft Aikins, Ama; Stronks, Karien

2009-01-01

Background Most European countries are ethnically and culturally diverse. Globally, cardiovascular disease (CVD) is the leading cause of death. The major risk factors for CVD have been well established. This picture holds true for all regions of the world and in different ethnic groups. However, the prevalence of CVD and related risk factors vary among ethnic groups. Methods This article provides a review of current understanding of the epidemiology of vascular disease, principally coronary heart disease (CHD), stroke and related risk factors among populations of Sub-Sahara African descent (henceforth, African descent) in comparison with the European populations in Europe. Results Compared with European populations, populations of African descent have an increased risk of stroke, whereas CHD is less common. They also have higher rates of hypertension and diabetes than European populations. Obesity is highly prevalent, but smoking rate is lower among African descent women. Older people of African descent have more favourable lipid profile and dietary habits than their European counterparts. Alcohol consumption is less common among populations of African descent. The rate of physical activity differs between European countries. Dutch African-Suriname men and women are less physically active than the White-Dutch whereas British African women are more physically active than women in the general population. Literature on psychosocial stress shows inconsistent results. Conclusion Hypertension and diabetes are highly prevalent among African populations, which may explain their high rate of stroke in Europe. The relatively low rate of CHD may be explained by the low rates of other risk factors including a more favourable lipid profile and the low prevalence of smoking. The risk factors are changing, and on the whole, getting worse especially among African women. Cohort studies and clinical trials are therefore needed among these groups to determine the relative

Genetic history of the African Sahelian populations.

PubMed

Černý, V; Kulichová, I; Poloni, E S; Nunes, J M; Pereira, L; Mayor, A; Sanchez-Mazas, A

2018-03-01

From a biogeographic perspective, Africa is subdivided into distinct horizontal belts. Human populations living along the Sahel/Savannah belt south of the Sahara desert have often been overshadowed by extensive studies focusing on other African populations such as hunter-gatherers or Bantu in particular. However, the Sahel together with the Savannah bordering it in the south is a challenging region where people had and still have to cope with harsh climatic conditions and show resilient behaviours. Besides exponentially growing urban populations, several local groups leading various lifestyles and speaking languages belonging to three main linguistic families still live in rural localities across that region today. Thanks to several years of consistent population sampling throughout this area, the genetic history of the African Sahelian populations has been largely reconstructed and a deeper knowledge has been acquired regarding their adaptation to peculiar environments and/or subsistence modes. Distinct exposures to pathogens-in particular, malaria-likely contributed to their genetic differentiation for HLA genes. In addition, although food-producing strategies spread within the Sahel/Savannah belt relatively recently, during the last five millennia according to recent archaeological and archaeobotanical studies, remarkable amounts of genetic differences are also observed between sedentary farmers and more mobile pastoralists at multiple neutral and selected loci, reflecting both demographic effects and genetic adaptations to distinct cultural traits, such as dietary habits. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A Panel of Ancestry Informative Markers for the Complex Five-Way Admixed South African Coloured Population

PubMed Central

Daya, Michelle; van der Merwe, Lize; Galal, Ushma; Möller, Marlo; Salie, Muneeb; Chimusa, Emile R.; Galanter, Joshua M.; van Helden, Paul D.; Henn, Brenna M.; Gignoux, Chris R.; Hoal, Eileen

2013-01-01

Admixture is a well known confounder in genetic association studies. If genome-wide data is not available, as would be the case for candidate gene studies, ancestry informative markers (AIMs) are required in order to adjust for admixture. The predominant population group in the Western Cape, South Africa, is the admixed group known as the South African Coloured (SAC). A small set of AIMs that is optimized to distinguish between the five source populations of this population (African San, African non-San, European, South Asian, and East Asian) will enable researchers to cost-effectively reduce false-positive findings resulting from ignoring admixture in genetic association studies of the population. Using genome-wide data to find SNPs with large allele frequency differences between the source populations of the SAC, as quantified by Rosenberg et. al's -statistic, we developed a panel of AIMs by experimenting with various selection strategies. Subsets of different sizes were evaluated by measuring the correlation between ancestry proportions estimated by each AIM subset with ancestry proportions estimated using genome-wide data. We show that a panel of 96 AIMs can be used to assess ancestry proportions and to adjust for the confounding effect of the complex five-way admixture that occurred in the South African Coloured population. PMID:24376522

A pharmacogenetic study of CD4 recovery in response to HIV antiretroviral therapy in two South African population groups.

PubMed

Parathyras, John; Gebhardt, Stefan; Hillermann-Rebello, Renate; Grobbelaar, Nelis; Venter, Mauritz; Warnich, Louise

2009-05-01

South Africa, like many other Southern African countries, has one of the highest HIV infection rates in the world and many individuals consequently receive antiretroviral therapy (ART). However, knowledge regarding (i) the prevalence of functional single nucleotide polymorphisms (SNPs) in pharmacologically relevant genes, and (ii) variance in pharmacotherapy both within and between different populations and ethnic groups is limited. The aim of this study was to determine whether selected polymorphisms in cytochrome P450 (CYP) genes (CYP2B6 and CYP3A4) and the multidrug-resistance 1 (ABCB1) gene underlie altered antiretroviral (ARV) drug response in two South African populations. DNA samples from 182 HIV-positive individuals of Mixed-Ancestry and Xhosa ethnicity on ART were genotyped for the A-392G SNP in CYP3A4, the G516T and A785G SNPs in CYP2B6, and the T-129C, C1236T, G2677T/A and C3435T SNPs in ABCB1. Univariate two-way analysis of variance (ANOVA) testing revealed no apparent effect of ethnicity on immune recovery (in terms of CD4-cell count) in response to ART. Univariate one-way ANOVA testing revealed a discernible effect of genotype on immune recovery in the cases of the T-129C (P=0.03) and G2677A (P<0.01) polymorphisms in the ABCB1 gene. This study serves as a basis for better understanding and possible prediction of pharmacogenetic risk profiles and drug response in individuals and ethnic groups in South Africa.

Differentiation of African components of ancestry to stratify groups in a case-control study of a Brazilian urban population.

PubMed

Silbiger, Vivian N; Hirata, Mario H; Luchessi, Andre D; Genvigir, Fabiana D V; Cerda, Alvaro; Rodrigues, Alice C; Willrich, Maria A V; Arazi, Simone S; Dorea, Egidio L; Bernik, Marcia M S; Faludi, Andre A; Bertolami, Marcelo C; Santos, Carla; Carracedo, Angel; Salas, Antonio; Freire, Ana; Lareu, Maria Victoria; Phillips, Christopher; Porras-Hurtado, Liliana; Fondevila, Manuel; Hirata, Rosario D C

2012-06-01

Balancing the subject composition of case and control groups to create homogenous ancestries between each group is essential for medical association studies. We explored the applicability of single-tube 34-plex ancestry informative markers (AIM) single nucleotide polymorphisms (SNPs) to estimate the African Component of Ancestry (ACA) to design a future case-control association study of a Brazilian urban sample. One hundred eighty individuals (107 case group; 73 control group) self-described as white, brown-intermediate or black were selected. The proportions of the relative contribution of a variable number of ancestral population components were similar between case and control groups. Moreover, the case and control groups demonstrated similar distributions for ACA <0.25 and >0.50 categories. Notably a high number of outlier values (23 samples) were observed among individuals with ACA <0.25. These individuals presented a high probability of Native American and East Asian ancestral components; however, no individuals originally giving these self-described ancestries were observed in this study. The strategy proposed for the assessment of ancestry and adjustment of case and control groups for an association study is an important step for the proper construction of the study, particularly when subjects are taken from a complex urban population. This can be achieved using a straight forward multiplexed AIM-SNPs assay of highly discriminatory ancestry markers.

East African cheetahs: evidence for two population bottlenecks?

PubMed Central

O'Brien, S J; Wildt, D E; Bush, M; Caro, T M; FitzGibbon, C; Aggundey, I; Leakey, R E

1987-01-01

A combined population genetic and reproductive analysis was undertaken to compare free-ranging cheetahs from east Africa (Acinonyx jubatus raineyi) with the genetically impoverished and reproductively impaired south African subspecies (Acinonyx jubatus jubatus). Like that of their south African counterparts, the quality of semen specimens from east African cheetahs was poor, with a low concentration of spermatozoa (25.3 X 10(6) per ejaculate) and a high incidence of morphological abnormalities (79%). From an electrophoretic survey of the products of 49 genetic loci in A. jubatus raineyi, two allozyme polymorphisms were detected; one of these, for a nonspecific esterase, shows an allele that is rare (less than 1% incidence) in south African specimens. Estimates of polymorphism (2-4%) and average heterozygosity (0.0004-0.014) affirm the cheetah as the least genetically variable felid species. The genetic distance between south and east African cheetahs was low (0.004), suggesting that the development of genetic uniformity preceded the recent geographic isolation of the subspecies. We propose that at least two population bottlenecks followed by inbreeding produced the modern cheetah species. The first and most extreme was ancient, possibly late Pleistocene (circa 10,000 years ago); the second was more recent (within the last century) and led to the south African populations. PMID:3467370

Sigmoid colon morphology in the population groups of Durban, South Africa, with special reference to sigmoid volvulus.

PubMed

Madiba, T E; Haffajee, M R

2011-05-01

Sigmoid volvulus demonstrates geographical, racial, and gender variation. This autopsy study was undertaken to establish morphological differences of the sigmoid colon and its mesocolon in which the length and other characteristics were assessed. A total of 590 cadavers were examined (403 African, 91 Indian, and 96 White). Length and height of the sigmoid colon and mesocolon were significantly longer in Africans, and mesocolon root was significantly narrower in Africans. Mesocolic ratio for Africans, Indians, and Whites was 1.1 ± 0.8, 1.8 ± 0.7, and 1.9 ± 1.0, respectively. Africans had a significantly high incidence of redundant sigmoid colon with the long-narrow type and suprapelvic position predominating (P = 0.003); the opposite applied to the classic type. There was no difference in sigmoid colon length, mesocolon height, and width between males and females in all population groups. Among Africans, the long-narrow type was more common in males, and the classic and long-broad types were more common in females. Splaying of teniae coli and thickening of the mesentery were more common in Africans. Tethering of the sigmoid colon to the posterior abdominal wall was less common in Africans compared with other population groups. In conclusion, the sigmoid colon was longer, and the sigmoid mesocolon root was narrower in Africans compared with the other population groups, and the sigmoid colon had a suprapelvic disposition among Africans. In Africans, the sigmoid colon was longer in males with a long-narrow shape. These differences may explain geographical and racial differences in sigmoid volvulus. Copyright © 2011 Wiley-Liss, Inc.

Recent Admixture in an Indian Population of African Ancestry

PubMed Central

Narang, Ankita; Jha, Pankaj; Rawat, Vimal; Mukhopadhayay, Arijit; Dash, Debasis; Basu, Analabha; Mukerji, Mitali

2011-01-01

Identification and study of genetic variation in recently admixed populations not only provides insight into historical population events but also is a powerful approach for mapping disease loci. We studied a population (OG-W-IP) that is of African-Indian origin and has resided in the western part of India for 500 years; members of this population are believed to be descendants of the Bantu-speaking population of Africa. We have carried out this study by using a set of 18,534 autosomal markers common between Indian, CEPH-HGDP, and HapMap populations. Principal-components analysis clearly revealed that the African-Indian population derives its ancestry from Bantu-speaking west-African as well as Indo-European-speaking north and northwest Indian population(s). STRUCTURE and ADMIXTURE analyses show that, overall, the OG-W-IPs derive 58.7% of their genomic ancestry from their African past and have very little inter-individual ancestry variation (8.4%). The extent of linkage disequilibrium also reveals that the admixture event has been recent. Functional annotation of genes encompassing the ancestry-informative markers that are closer in allele frequency to the Indian ancestral population revealed significant enrichment of biological processes, such as ion-channel activity, and cadherins. We briefly examine the implications of determining the genetic diversity of this population, which could provide opportunities for studies involving admixture mapping. PMID:21737057

Prevalence of Glaucoma in an Urban West African Population

PubMed Central

Budenz, Donald L.; Barton, Keith; Whiteside-de Vos, Julia; Schiffman, Joyce; Bandi, Jagadeesh; Nolan, Winifred; Herndon, Leon; Kim, Hanna; Hay-Smith, Graham; Tielsch, James M.

2014-01-01

Importance Multiple studies have found an increased prevalence, younger age at onset, and more severe course of glaucoma in people of African descent, but these findings are based on studies conducted outside Africa. Objective To determine the prevalence of glaucoma in an urban West African population of adults. Design and Setting A population-based, cross-sectional study of adults 40 years and older conducted from September 1, 2006, through December 31, 2008, from 5 communities in Tema, Ghana. Participants Participants from randomly selected clusters underwent a screening examination that consisted of visual acuity, frequency doubling perimetry, applanation tonometry, and optic disc photography. Participants who failed any of these tests were referred for complete examination, including gonioscopy, standard automated perimetry, and stereoscopic optic disc photography. Results A total of 6806 eligible participants were identified, and 5603 (82.3%) were enrolled in the study. The field examination referred 1869 participants (33.3%) to the clinic examination, and 1538 (82.2%) came for complete examination. A total of 362 participants were identified as having glaucoma of any type and category. Primary open-angle glaucoma was the underlying diagnosis in 342 participants (94.5%). The prevalence of primary open-angle glaucoma was 6.8% overall, increasing from 3.7% among those 40 to 49 years old to 14.6% among those 80 years and older, and was higher in men than in women in all age groups, with an overall male-female prevalence ratio of 1.5. Of the participants with glaucoma, 9 (2.5%) were blind using World Health Organization criteria, and only 12 (3.3%) were aware that they had glaucoma. Conclusions and Relevance The prevalence of glaucoma is higher in this urban West African population than in previous studies of people of East or South African and of non-African descent. Strategies to identify affected persons and effectively manage the burden of glaucoma are needed

Cross national study of leisure-time physical activity in Dutch and English populations with ethnic group comparisons.

PubMed

de Munter, Jeroen S L; Agyemang, Charles; van Valkengoed, Irene G M; Bhopal, Raj; Zaninotto, Paola; Nazroo, James; Kunst, Anton E; Stronks, Karien

2013-06-01

Variations between countries in leisure-time physical activity (LTPA) can be used to test the convergence thesis, which expects that ethnic minority groups change towards the LTPA levels of the native population of host countries. The aim of this study was to test whether similar differences in LTPA between the native populations of England and the Netherlands are also observed among the Indian and African descent groups living in these countries. We used English and Dutch population-based health surveys that included participants aged 35-60 years of European (n(english) = 14,723, n(dutch) = 567), Indian (n(english) = 1264, n(dutch) = 370) and African-Caribbean (n(english) = 1112, n(dutch) = 689) descent. Levels of LTPA (30-minute walking, any reported cycling, gardening, dancing and playing sports) were estimated with age-sex-standardized prevalence rates. Comparisons among groups were made using adjusted Prevalence Ratios (PRs). Within both countries and compared with the European group, Indian and African groups had lower levels of gardening and cycling, whereas the African groups had higher levels of dancing. Between countries, among the European groups, the Netherlands showed higher prevalence of cycling than England, PR = 2.26 (95% CI: 2.06-2.48), and this was 2.85 (1.94-4.19) among Indian descent, and 2.77 (2.05-3.73) among African descent. For playing sports, this was PR = 1.30 (1.23-1.38), 1.43 (1.24-1.66) and 1.22 (1.10-1.34), whereas for gardening this was PR = 0.71 (0.65-0.78), 0.65 (0.52-0.81) and 0.75 (0.62-0.90), respectively. Walking and dancing showed inconsistent differences between the countries and ethnic groups. This cross-national comparison supports the expectation that LTPA of Indian and African descent groups converge towards the national levels of England and the Netherlands respectively.

African American leadership groups: smoking with the enemy

PubMed Central

Yerger, V; Malone, R

2002-01-01

Background: Among all racial and ethnic groups in the USA, African Americans bear the greatest burden from tobacco related disease. The tobacco industry has been highly influential in the African American community for decades, providing funding and other resources to community leaders and emphasising publicly its support for civil rights causes and groups, while ignoring the negative health effects of its products on those it claims to support. However, the industry's private business reasons for providing such support were unknown. Objective: To understand how and for what purposes the tobacco industry sought to establish and maintain relationships with African American leaders. Methods: Review and analysis of over 700 previously secret internal tobacco industry documents available on the internet. Results: The tobacco industry established relationships with virtually every African American leadership organisation and built longstanding social connections with the community, for three specific business reasons: to increase African American tobacco use, to use African Americans as a frontline force to defend industry policy positions, and to defuse tobacco control efforts. Conclusion: As the tobacco industry expands its global reach, public health advocates should anticipate similar industry efforts to exploit the vulnerabilities of marginalised groups. The apparent generosity, inclusion, and friendship proffered by the industry extract a price from groups in the health of their members. Helping groups anticipate such efforts, confront industry co-optation, and understand the hidden costs of accepting tobacco industry largesse should be part of worldwide tobacco control efforts. PMID:12432159

A molecular analysis of African lion (Panthera leo) mating structure and extra-group paternity in Etosha National Park.

PubMed

Lyke, M M; Dubach, J; Briggs, M B

2013-05-01

The recent incorporation of molecular methods into analyses of social and mating systems has provided evidence that mating patterns often differ from those predicted by group social organization. Based on field studies and paternity analyses at a limited number of sites, African lions are predicted to exhibit a strict within-pride mating system. Extra-group paternity has not been previously reported in African lions; however, observations of extra-group associations among lions inhabiting Etosha National Park in Namibia suggest deviation from the predicted within-pride mating pattern. We analysed variation in 14 microsatellite loci in a population of 164 African lions in Etosha National Park. Genetic analysis was coupled with demographic and observational data to examine pride structure, relatedness and extra-group paternity (EGP). EGP was found to occur in 57% of prides where paternity was analysed (n = 7), and the overall rate of EGP in this population was 41% (n = 34). Group sex ratio had a significant effect on the occurrence of EGP (P < 0.05), indicating that variation in pride-level social structure may explain intergroup variation in EGP. Prides with a lower male-to-female ratio were significantly more likely to experience EGP in this population. The results of this study challenge the current models of African lion mating systems and provide evidence that social structure may not reflect breeding structure in some social mammals. © 2013 Blackwell Publishing Ltd.

Sex estimation from the patella in an African American population.

PubMed

Peckmann, Tanya R; Fisher, Brooke

2018-02-01

The skull and pelvis have been used for the estimation of sex for unknown human remains. However, in forensic cases where skeletal remains often exhibit postmortem damage and taphonomic changes the patella may be used for the estimation of sex as it is a preservationally favoured bone. The goal of the present research was to derive discriminant function equations from the patella for estimation of sex from an historic African American population. Six parameters were measured on 200 individuals (100 males and 100 females), ranging in age from 20 to 80 years old, from the Robert J. Terry Anatomical Skeleton Collection. The statistical analyses showed that all variables were sexually dimorphic. Discriminant function score equations were generated for use in sex estimation. The overall accuracy of sex classification ranged from 80.0% to 85.0% for the direct method and 80.0%-84.5% for the stepwise method. Overall, when the Spanish and Black South African discriminant functions were applied to the African American population they showed low accuracy rates for sexing the African American sample. However, when the White South African discriminant functions were applied to the African American sample they displayed high accuracy rates for sexing the African American population. The patella was shown to be accurate for sex estimation in the historic African American population. Copyright © 2017 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

The case for expanding the definition of 'key populations' to include high-risk groups in the general population to improve targeted HIV prevention efforts.

PubMed

Shisana, Olive; Zungu, N; Evans, M; Risher, K; Rehle, T; Clementano, D

2015-09-22

Two additional key populations within the general population in South Africa (SA) that are at risk of HIV infection are black African women aged 20 - 34 years and black African men aged 25 - 49 years. To investigate the social determinants of HIV serostatus for these two high-risk populations. Data from the 2012 South African National HIV Prevalence, Incidence, and Behaviour Survey were analysed for black African women aged 20 - 34 years and black African men aged 25 - 49 years. Of the 6.4 million people living with HIV in SA in 2012, 1.8 million (28%) were black women aged 20 - 34 years and 1.9 million (30%) black men aged 25 - 49 years. In 2012, they constituted 58% of the total HIV-positive population and 48% of the newly infected population. Low socioeconomic status (SES) was strongly associated (p<0.001) with being HIV-positive among black women aged 20 - 34 years, and was marginally significant among black men aged 25 - 49 years (p<0.1). Low SES is a critical social determinant for HIV infection among the high-risk groups of black African women aged 20 - 34 years and black African men aged 25 - 49 years. Targeted interventions for these key populations should prioritise socioeconomic empowerment, access to formal housing and services, access to higher education, and broad economic transformation.

Cytochrome and sulfotransferase gene variation in north African populations.

PubMed

Fernández-Santander, Ana; Novillo, Apolonia; Gaibar, María; Romero-Lorca, Alicia; Moral, Pedro; Sánchez-Cuenca, David; Amir, Nadir; Chaabani, Hassen; Harich, Nourdin; Esteban, Maria Esther

2016-08-01

To describe the diversity of four cytochrome and four sulfotransferase polymorphisms in six north African samples. Scarce data have been compiled for these samples despite the rich genetic background of north African populations. CYP3A4*1B, CYP3A4*17, CYP3A4*3, CYP3A5*3, SULT1A1*2, SULT1A2*2, SULT1A2*3 and SULT1E1*2 polymorphisms were explored in 556 individuals from Morocco, Algeria, Tunisia and Libya. Allele frequencies in our samples largely exceeded the variation ranges described for European populations, especially for CYP3A4*1B, SULT1A1*2 and SULT1A2*3. North African populations are heterogeneous, genetically diverse and show a considerable sub-Saharan African contribution for markers associated with increased risk of prostate cancer and with differential drug metabolism.

Rheumatoid arthritis in an urban South African Negro population.

PubMed Central

Solomon, L; Robin, G; Valkenburg, H A

1975-01-01

(1) An epidemiological study of an urban South African Negro community has been carried out in Johannesburg. Altogether 964 respondents were examined and in each case radiographs of the hands and feet were obtained. Rheumatoid factor tests were carried out on 404 serum samples. (2) Rheumatoid arthritis (RA) was graded 'definite' or 'probable' on the basis of a modification of the Rome criteria (Kellgren, Jeffrey, and Ball, 1963a). (3) In marked contrast to the findings in rural Africans the prevalence of RA in this community was similar to that in Caucasian populations. Five respondents (all elderly women) had 'definite' RA, giving a prevalence of 1.4% of the females and 0.9% of the total population sample over 15 years old. The prevalence of 'definite' and 'probable' RA combined was 2.6% for males, 3.7% for females, and 3.3% for all individuals over 15 years old. Prevalence increased with age, reaching a maximum in the 65- to 74-year cohort. (4) The form and severity of the clinical and radiological features were unlike the mild manifestations seen in rural African peoples and closely resembled the usual clinical picture of rheumatoid disease. (5) The latex fixation test was positive in 12.1% of the sera tested, which is similar to the high titres found in other African populations. No obvious cause for this phenomenon was found. (6) Several reasons for the marked difference in prevalence of RA between this urban African population and a rural African population are considered. Marked intraracial differences such as this point to the importance of sociological and environmental factors in the pathogenesis of rheumatoid arthritis. PMID:1137439

Food Group Categories of Low-Income African American Women

ERIC Educational Resources Information Center

Lynch, Elizabeth B.; Holmes, Shane

2011-01-01

Objective: Describe lay food group categories of low-income African American women and assess the overlap of lay food groups and MyPyramid food groups. Design: A convenience sample of African American mothers from a low-income Chicago neighborhood performed a card-sorting task in which they grouped familiar food items into food groups. Setting:…

Group size of a permanent large group of agile mangabeys (Cercocebus agilis) at Bai Hokou, Central African Republic.

PubMed

Devreese, Lieven; Huynen, Marie-Claude; Stevens, Jeroen M G; Todd, Angelique

2013-01-01

White-eyelid mangabeys (genus Cercocebus) live in groups of highly variable size. Because of their semi-terrestrial behaviour and preference for dense forest habitats, re-liable data on group size are scarce. During a 5-month study, we collected 17 group counts on a habituated group of agile mangabeys (C. agilis) at Bai Hokou in the Central African Republic. We found a stable group size of approximately 135 individuals. This permanent large grouping pattern is known to occur among several populations of white-eyelid mangabeys and is congruent with extreme group sizes reported in mandrills at Lopé in Gabon. Copyright © 2013 S. Karger AG, Basel.

Population health status of South Asian and African-Caribbean communities in the United Kingdom.

PubMed

Calvert, Melanie; Duffy, Helen; Freemantle, Nick; Davis, Russell; Lip, Gregory Y H; Gill, Paramjit

2012-04-25

Population health status scores are routinely used to inform economic evaluation and evaluate the impact of disease and/or treatment on health. It is unclear whether the health status in black and minority ethnic groups are comparable to these population health status data. The aim of this study was to evaluate health-status in South Asian and African-Caribbean populations. Cross-sectional study recruiting participants aged ≥ 45 years (September 2006 to July 2009) from 20 primary care centres in Birmingham, United Kingdom.10,902 eligible subjects were invited, 5,408 participated (49.6%). 5,354 participants had complete data (49.1%) (3442 South Asian and 1912 African-Caribbean). Health status was assessed by interview using the EuroQoL EQ-5D. The mean EQ-5D score in South Asian participants was 0.91 (standard deviation (SD) 0.18), median score 1 (interquartile range (IQR) 0.848 to 1) and in African-Caribbean participants the mean score was 0.92 (SD 0.18), median 1 (IQR 1 to 1). Compared with normative data from the UK general population, substantially fewer African-Caribbean and South Asian participants reported problems with mobility, usual activities, pain and anxiety when stratified by age resulting in higher average health status estimates than those from the UK population. Multivariable modelling showed that decreased health-related quality of life (HRQL) was associated with increased age, female gender and increased body mass index. A medical history of depression, stroke/transient ischemic attack, heart failure and arthritis were associated with substantial reductions in HRQL. The reported HRQL of these minority ethnic groups was substantially higher than anticipated compared to UK normative data. Participants with chronic disease experienced significant reductions in HRQL and should be a target for health intervention.

Os incae: variation in frequency in major human population groups

PubMed Central

HANIHARA, TSUNEHIKO; ISHIDA, HAJIME

2001-01-01

The variation in frequency of the Inca bone was examined in major human populations around the world. The New World populations have generally high frequencies of the Inca bone, whereas lower frequencies occur in northeast Asians and Australians. Tibetan/Nepalese and Assam/Sikkim populations in northeast India have more Inca bones than do neighbouring populations. Among modern populations originally derived from eastern Asian population stock, the frequencies are highest in some of the marginal isolated groups. In Central and West Asia as well as in Europe, frequency of the Inca bone is relatively low. The incidence of the complete Inca bone is, moreover, very low in the western hemisphere of the Old World except for Subsaharan Africa. Subsaharan Africans show as a whole a second peak in the occurrence of the Inca bone. Geographical and ethnographical patterns of the frequency variation of the Inca bone found in this study indicate that the possible genetic background for the occurrence of this bone cannot be completely excluded. Relatively high frequencies of the Inca bone in Subsaharan Africans indicate that this trait is not a uniquely eastern Asian regional character. PMID:11273039

Counseling Groups for African American Women: A Focus on Spirituality.

ERIC Educational Resources Information Center

Williams, Carmen Braun; Frame, Marsha Wiggins; Green, Evelyn

1999-01-01

Explains cultural and spiritual traditions within African American women's experience that form the foundation for group counseling strategies. Reviews literature regarding African American women's experience in groups. Explains group interventions such as art, music, dance, imagery, journaling, and rituals that can help transcend, empower, and…

Genetic relatedness and disrupted social structure in a poached population of African elephants.

PubMed

Gobush, Kathleen; Kerr, Ben; Wasser, Samuel

2009-02-01

We use genetic measures of relatedness and observations of female bonding to examine the demographic signature of historically heavy poaching of a population of free-ranging African elephants. We collected dung samples to obtain DNA and observed behaviour from 102 elephant families over a 25-month period in 2003-2005 in Mikumi National Park, Tanzania. Poaching reduced the population by 75% in the decade prior to the 1989 ivory trade ban; park records indicate that poaching dropped significantly in Mikumi following the ban. Using 10 microsatellite loci, DNA was genotyped in 203 elephants and pair-wise relatedness was calculated among adult females within and between groups. The Mikumi population is characterized by small group size, considerable variation in group relatedness, females with no first-order adult relatives and females that form only weak social bonds. We used gene-drop analysis and a model of a genetically intact pedigree to compare our observed Mikumi group relatedness to a simulated genetically intact unpoached expectation. The majority of groups in Mikumi contain 2 to 3 adults; of these, 45% were classified as genetically disrupted. Bonding, quantified with a pair-wise association index, was significantly correlated with relatedness; however only half of the females formed strong bonds with other females, and relatedness was substantially lower for a given bond strength as compared to an unpoached population. Female African elephants without kin demonstrated considerable behavioural plasticity in this disturbed environment, grouping with other females lacking kin, with established groups, or remaining alone, unable to form any stable adult female-bonds. We interpret these findings as the remaining effect of poaching disturbance in Mikumi, despite a drop in the level of poaching since the commercial trade in ivory was banned 15 years ago.

African Ancestry is a Risk Factor for Asthma and High Total IgE Levels in African Admixed Populations

PubMed Central

Vergara, Candelaria; Murray, Tanda; Rafaels, Nicholas; Lewis, Rachel; Campbell, Monica; Foster, Cassandra; Gao, Li; Faruque, Mezbah; Oliveira, Ricardo Riccio; Carvalho, Edgar; Araujo, Maria Ilma; Cruz, Alvaro A.; Watson, Harold; Mercado, Dilia; Knight-Madden, Jennifer; Ruczinski, Ingo; Dunston, Georgia; Ford, Jean; Caraballo, Luis; Beaty, Terri H.; Mathias, Rasika A.; Barnes, Kathleen C.

2014-01-01

Characterization of genetic admixture of populations in the Americas and the Caribbean is of interest for anthropological, epidemiological, and historical reasons. Asthma has a higher prevalence and is more severe in populations with a high African component. Association of African ancestry with asthma has been demonstrated. We estimated admixture proportions of samples from six trihybrid populations of African descent and determined the relationship between African ancestry and asthma and total serum IgE levels (tIgE). We genotyped 237 ancestry informative markers in asthmatics and nonasthmatic controls from Barbados (190/277), Jamaica (177/529), Brazil (40/220), Colombia (508/625), African Americans from New York (207/171), and African Americans from Baltimore/Washington, D.C. (625/757). We estimated individual ancestries and evaluated genetic stratification using Structure and principal component analysis. Association of African ancestry and asthma and tIgE was evaluated by regression analysis. Mean SD African ancestry ranged from 0.76 ± 0.10 among Barbadians to 0.33 ± 0.13 in Colombians. The European component varied from 0.14 ± 0.05 among Jamaicans and Barbadians to 0.26 ± 0.08 among Colombians. African ancestry was associated with risk for asthma in Colombians (odds ratio (OR) = 4.5, P = 0.001) Brazilians (OR = 136.5, P = 0.003), and African Americans of New York (OR: 4.7; P = 0.040). African ancestry was also associated with higher tIgE levels among Colombians (β = 1.3, P = 0.04), Barbadians (β = 3.8, P = 0.03), and Brazilians (β = 1.6, P = 0.03). Our findings indicate that African ancestry can account for, at least in part, the association between asthma and its associated trait, tIgE levels. PMID:23554133

African genetic ancestry is associated with a protective effect on Dengue severity in colombian populations.

PubMed

Chacón-Duque, Juan Camilo; Adhikari, Kaustubh; Avendaño, Efren; Campo, Omer; Ramirez, Ruth; Rojas, Winston; Ruiz-Linares, Andrés; Restrepo, Berta Nelly; Bedoya, Gabriel

2014-10-01

The wide variation in severity displayed during Dengue Virus (DENV) infection may be influenced by host susceptibility. In several epidemiological approaches, differences in disease outcomes have been found between some ethnic groups, suggesting that human genetic background has an important role in disease severity. In the Caribbean, It has been reported that populations of African descent present considerable less frequency of severe forms compared with Mestizo and White self-reported groups. Admixed populations offer advantages for genetic epidemiology studies due to variation and distribution of alleles, such as those involved in disease susceptibility, as well to provide explanations of individual variability in clinical outcomes. The current study analysed three Colombian populations, which like most of Latin American populations, are made up of the product of complex admixture processes between European, Native American and African ancestors; having as a main goal to assess the effect of genetic ancestry, estimated with 30 Ancestry Informative Markers (AIMs), on DENV infection severity. We found that African ancestry has a protective effect against severe outcomes under several systems of clinical classification: Severe Dengue (OR: 0.963 for every 1% increase in African ancestry, 95% confidence interval (0.934-0.993), p-value: 0.016), Dengue Haemorrhagic Fever (OR: 0.969, 95% CI (0.947-0.991), p-value: 0.006), and occurrence of haemorrhages (OR: 0.971, 95% CI (0.952-0.989), p-value: 0.002). Conversely, decrease from 100% to 0% African ancestry significantly increases the chance of severe outcomes: OR is 44-fold for Severe Dengue, 24-fold for Dengue Haemorrhagic Fever, and 20-fold for occurrence of haemorrhages. Furthermore, several warning signs also showed statistically significant association given more evidences in specific stages of DENV infection. These results provide consistent evidence in order to infer statistical models providing a framework for

Screening for primary aldosteronism--normal ranges for aldosterone and renin in three South African population groups.

PubMed

Rayner, B L; Myers, J E; Opie, L H; Trinder, Y A; Davidson, J S

2001-07-01

To establish normal ranges for plasma aldosterone, renin and aldosterone/renin (A/R) ratio in South African normotensives under typical outpatient conditions, and to estimate the prevalence of primary aldosteronism (PA) among hypertensives in primary care settings. One hundred and thirty-six normotensive subjects and 154 sex- and age-matched hypertensives at three primary care clinics had measurements of blood pressure, plasma creatinine, K+, aldosterone, plasma renin activity, and spot urine for urinary Na+/creatinine ratio. Medication was not withdrawn before testing. Mean plasma renin activity in black normotensive subjects (0.95 +/- 1.25 ng/ml/h, mean +/- standard deviation (SD)) was significantly lower than in white (2.09 +/- 1.12 ng/ml/h; P < 0.0001) and coloured (1.81 +/- 1.86 ng/ml/h, P = 0.013) normotensives. Mean plasma aldosterone in black normotensives (306 +/- 147 pmol/l) was also significantly lower than in white (506 +/- 324 pmol/l, P = 0.0002) and coloured (418 +/- 304 pmol/l, P = 0.0148) normotensives. In hypertensives, there were no significant differences in renin or aldosterone levels between the three population groups. Urinary Na+/creatinine ratios, an index of Na+ intake, were not significantly different in the three population groups. None of the normotensives had an A/R ratio > or = 1,000 plus aldosterone > or = 750, while 7.1% of hypertensives exceeded these levels, suggesting that they are appropriate criteria for screening for PA. A large fraction of black normotensive subjects had low renin and aldosterone levels compared with whites, suggesting a salt-retaining tendency in black subjects. These results have important implications for the interpretation of plasma renin and aldosterone levels in hypertensive patients. In primary care settings, 7.1% of hypertensives had biochemical results indicating the need for investigation of PA.

Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations

PubMed Central

Ko, Wen-Ya; Rajan, Prianka; Gomez, Felicia; Scheinfeldt, Laura; An, Ping; Winkler, Cheryl A.; Froment, Alain; Nyambo, Thomas B.; Omar, Sabah A.; Wambebe, Charles; Ranciaro, Alessia; Hirbo, Jibril B.; Tishkoff, Sarah A.

2013-01-01

Disease susceptibility can arise as a consequence of adaptation to infectious disease. Recent findings have suggested that higher rates of chronic kidney disease (CKD) in individuals with recent African ancestry might be attributed to two risk alleles (G1 and G2) at the serum-resistance-associated (SRA)-interacting-domain-encoding region of APOL1. These two alleles appear to have arisen adaptively, possibly as a result of their protective effects against human African trypanosomiasis (HAT), or African sleeping sickness. In order to explore the distribution of potential functional variation at APOL1, we studied nucleotide variation in 187 individuals across ten geographically and genetically diverse African ethnic groups with exposure to two Trypanosoma brucei subspecies that cause HAT. We observed unusually high levels of nonsynonymous polymorphism in the regions encoding the functional domains that are required for lysing parasites. Whereas allele frequencies of G2 were similar across all populations (3%–8%), the G1 allele was only common in the Yoruba (39%). Additionally, we identified a haplotype (termed G3) that contains a nonsynonymous change at the membrane-addressing-domain-encoding region of APOL1 and is present in all populations except for the Yoruba. Analyses of long-range patterns of linkage disequilibrium indicate evidence of recent selection acting on the G3 haplotype in Fulani from Cameroon. Our results indicate that the G1 and G2 variants in APOL1 are geographically restricted and that there might be other functional variants that could play a role in HAT resistance and CKD risk in African populations. PMID:23768513

Measuring Soluble ICAM-1 in African Populations

PubMed Central

Abdi, Abdirahman I.; Muthui, Michelle; Kiragu, Esther; Bull, Peter C.

2014-01-01

The level of plasma soluble ICAM-1 (sICAM-1) has been associated with the pathogenesis of several diseases. Previously, a commercial antibody was reported not to recognize an ICAM-1 allele known as ICAM-1kilifi prevalent among African populations. However, that study was based on 19 samples from African Americans of whom 13 had the wild type allele, five heterozygotes and one homozygote. Here, we compare plasma sICAM-1 measures using three different commercial antibodies in samples from Kenyan children genotyped for ICAM-1kilifi allele. We show that two of these antibodies have some degree of deficiency in detecting the ICAM-1kilifi allele. Consideration of the antibody used to measure sICAM-1 is important as up to 30% of the populations in Africa harbour this allele. PMID:25289635

Haptoglobin polymorphism among Saharian and West African groups. Haptoglobin phenotype determination by radioimmunoelectrophoresis on Hp O samples.

PubMed Central

Constans, J; Viau, M; Gouaillard, C; Clerc, A

1981-01-01

The haptoglobin (Hp) polymorphism is investigated in 11 African groups living in an area from the Algerian Sahara to Central Africa. More than 4,000 samples were examined. In the Saharian samples, the Hp1 gene frequency is higher than in any other African group. From north to south, a decrease in the Hp1 gene frequency is observed; in the Pygmy sample only, this frequency is lower than the frequency of the Hp2 gene. By means of a sensitive radioimmunoelectrophoresis, the presence of a residual Hp in Hp O sera in which the Hp polymorphism can also be determined can be revealed. Absence of Hp 1-1 and significant excess of Hp 2-2 individuals were observed. More Hp 2-1M phenotypes were detected in the Hp O population than in the non-Hp O population examined. In the Hp O samples, the influence of the phenotype distribution on the Hp gene frequencies is discussed. The heavy polymers of the Hp related to the presence of the alpha 2 chain (Hp2 gene product) are involved only in the biological mechanisms responsible for the presence of Hp O and Hp 2-1 M phenotypes among African groups. Images Fig. 1 PMID:7258189

Prevalence of glaucoma in an urban West African population: the Tema Eye Survey.

PubMed

Budenz, Donald L; Barton, Keith; Whiteside-de Vos, Julia; Schiffman, Joyce; Bandi, Jagadeesh; Nolan, Winifred; Herndon, Leon; Kim, Hanna; Hay-Smith, Graham; Tielsch, James M

2013-05-01

Multiple studies have found an increased prevalence, younger age at onset, and more severe course of glaucoma in people of African descent, but these findings are based on studies conducted outside Africa. To determine the prevalence of glaucoma in an urban West African population of adults. A population-based, cross-sectional study of adults 40 years and older conducted from September 1, 2006, through December 31, 2008, from 5 communities in Tema, Ghana. Participants from randomly selected clusters underwent a screening examination that consisted of visual acuity, frequency doubling perimetry, applanation tonometry, and optic disc photography. Participants who failed any of these tests were referred for complete examination, including gonioscopy, standard automated perimetry, and stereoscopic optic disc photography. A total of 6806 eligible participants were identified, and 5603 (82.3%) were enrolled in the study. The field examination referred 1869 participants (33.3%) to the clinic examination, and 1538 (82.2%) came for complete examination. A total of 362 participants were identified as having glaucoma of any type and category. Primary open-angle glaucoma was the underlying diagnosis in 342 participants (94.5%). The prevalence of primary open-angle glaucoma was 6.8% overall, increasing from 3.7% among those 40 to 49 years old to 14.6% among those 80 years and older, and was higher in men than in women in all age groups, with an overall male-female prevalence ratio of 1.5. Of the participants with glaucoma, 9 (2.5%) were blind using World Health Organization criteria, and only 12 (3.3%) were aware that they had glaucoma. The prevalence of glaucoma is higher in this urban West African population than in previous studies of people of East or South African and of non-African descent. Strategies to identify affected persons and effectively manage the burden of glaucoma are needed in West Africa.

Loci associated with skin pigmentation identified in African populations

PubMed Central

Crawford, Nicholas G.; Kelly, Derek E.; Hansen, Matthew E. B.; Beltrame, Marcia H.; Fan, Shaohua; Bowman, Shanna L.; Jewett, Ethan; Ranciaro, Alessia; Thompson, Simon; Lo, Yancy; Pfeifer, Susanne P.; Jensen, Jeffrey D.; Campbell, Michael C.; Beggs, William; Hormozdiari, Farhad; Mpoloka, Sununguko Wata; Mokone, Gaonyadiwe George; Nyambo, Thomas; Meskel, Dawit Wolde; Belay, Gurja; Haut, Jake; Rothschild, Harriet; Zon, Leonard; Zhou, Yi; Kovacs, Michael A.; Xu, Mai; Zhang, Tongwu; Bishop, Kevin; Sinclair, Jason; Rivas, Cecilia; Elliot, Eugene; Choi, Jiyeon; Li, Shengchao A.; Hicks, Belynda; Burgess, Shawn; Abnet, Christian; Watkins-Chow, Dawn E.; Oceana, Elena; Song, Yun S.; Eskin, Eleazar; Brown, Kevin M.; Marks, Michael S.; Loftus, Stacie K.; Pavan, William J.; Yeager, Meredith; Chanock, Stephen; Tishkoff, Sarah

2017-01-01

Despite the wide range of skin pigmentation in humans, little is known about its genetic basis in global populations. Examining ethnically diverse African genomes, we identify variants in or near SLC24A5, MFSD12, DDB1, TMEM138, OCA2 and HERC2 that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at SLC24A5 was introduced into East Africa by gene flow from non-Africans. At all other loci, variants associated with dark pigmentation in Africans are identical by descent in southern Asian and Australo-Melanesian populations. Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near DDB1/TMEM138 correlate with expression of UV response genes under selection in Eurasians. PMID:29025994

Identifying Darwinian selection acting on different human APOL1 variants among diverse African populations.

PubMed

Ko, Wen-Ya; Rajan, Prianka; Gomez, Felicia; Scheinfeldt, Laura; An, Ping; Winkler, Cheryl A; Froment, Alain; Nyambo, Thomas B; Omar, Sabah A; Wambebe, Charles; Ranciaro, Alessia; Hirbo, Jibril B; Tishkoff, Sarah A

2013-07-11

Disease susceptibility can arise as a consequence of adaptation to infectious disease. Recent findings have suggested that higher rates of chronic kidney disease (CKD) in individuals with recent African ancestry might be attributed to two risk alleles (G1 and G2) at the serum-resistance-associated (SRA)-interacting-domain-encoding region of APOL1. These two alleles appear to have arisen adaptively, possibly as a result of their protective effects against human African trypanosomiasis (HAT), or African sleeping sickness. In order to explore the distribution of potential functional variation at APOL1, we studied nucleotide variation in 187 individuals across ten geographically and genetically diverse African ethnic groups with exposure to two Trypanosoma brucei subspecies that cause HAT. We observed unusually high levels of nonsynonymous polymorphism in the regions encoding the functional domains that are required for lysing parasites. Whereas allele frequencies of G2 were similar across all populations (3%-8%), the G1 allele was only common in the Yoruba (39%). Additionally, we identified a haplotype (termed G3) that contains a nonsynonymous change at the membrane-addressing-domain-encoding region of APOL1 and is present in all populations except for the Yoruba. Analyses of long-range patterns of linkage disequilibrium indicate evidence of recent selection acting on the G3 haplotype in Fulani from Cameroon. Our results indicate that the G1 and G2 variants in APOL1 are geographically restricted and that there might be other functional variants that could play a role in HAT resistance and CKD risk in African populations. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Structure of some East African Glossina fuscipes fuscipes populations

PubMed Central

Krafsur, E. S.; Marquez, J. G.; Ouma, J. O.

2008-01-01

Glossina fuscipes fuscipes Newstead 1910 (Diptera: Glossinidae) is the primary vector of human sleeping sickness in Kenya and Uganda. This is the first report on its population structure. A total of 688 nucleotides of mitochondrial ribosomal 16S2 and cytochrome oxidase I genes were sequenced. Twenty-one variants were scored in 79 flies from three geographically diverse natural populations. Four haplotypes were shared among populations, eight were private and nine were singletons. The mean haplotype and nucleotide diversities were 0.84 and 0.009, respectively. All populations were genetically differentiated and were at demographic equilibrium. In addition, a longstanding laboratory culture originating from the Central African Republic (CAR-lab) in 1986 (or before) was examined. Haplotype and nucleotide diversities in this culture were 0.95 and 0.012, respectively. None of its 27 haplotypes were shared with the East African populations. A first approximation of relative effective population sizes was Uganda > CAR-lab > Kenya. It was concluded that the structure of G. f. fuscipes populations in East Africa is localized. PMID:18816270

Comparative Demography of an At-Risk African Elephant Population

PubMed Central

Wittemyer, George; Daballen, David; Douglas-Hamilton, Iain

2013-01-01

Knowledge of population processes across various ecological and management settings offers important insights for species conservation and life history. In regard to its ecological role, charisma and threats from human impacts, African elephants are of high conservation concern and, as a result, are the focus of numerous studies across various contexts. Here, demographic data from an individually based study of 934 African elephants in Samburu, Kenya were summarized, providing detailed inspection of the population processes experienced by the population over a fourteen year period (including the repercussions of recent increases in illegal killing). These data were compared with those from populations inhabiting a spectrum of xeric to mesic ecosystems with variable human impacts. In relation to variability in climate and human impacts (causing up to 50% of recorded deaths among adults), annual mortality in Samburu fluctuated between 1 and 14% and, unrelatedly, natality between 2 and 14% driving annual population increases and decreases. Survivorship in Samburu was significantly lower than other populations with age-specific data even during periods of low illegal killing by humans, resulting in relatively low life expectancy of males (18.9 years) and females (21.8 years). Fecundity (primiparous age and inter-calf interval) were similar to those reported in other human impacted or recovering populations, and significantly greater than that of comparable stable populations. This suggests reproductive effort of African savanna elephants increases in relation to increased mortality (and resulting ecological ramifications) as predicted by life history theory. Further comparison across populations indicated that elongated inter-calf intervals and older ages of reproductive onset were related to age structure and density, and likely influenced by ecological conditions. This study provides detailed empirical data on elephant population dynamics strongly influenced by human

Comparative demography of an at-risk African elephant population.

PubMed

Wittemyer, George; Daballen, David; Douglas-Hamilton, Iain

2013-01-01

Knowledge of population processes across various ecological and management settings offers important insights for species conservation and life history. In regard to its ecological role, charisma and threats from human impacts, African elephants are of high conservation concern and, as a result, are the focus of numerous studies across various contexts. Here, demographic data from an individually based study of 934 African elephants in Samburu, Kenya were summarized, providing detailed inspection of the population processes experienced by the population over a fourteen year period (including the repercussions of recent increases in illegal killing). These data were compared with those from populations inhabiting a spectrum of xeric to mesic ecosystems with variable human impacts. In relation to variability in climate and human impacts (causing up to 50% of recorded deaths among adults), annual mortality in Samburu fluctuated between 1 and 14% and, unrelatedly, natality between 2 and 14% driving annual population increases and decreases. Survivorship in Samburu was significantly lower than other populations with age-specific data even during periods of low illegal killing by humans, resulting in relatively low life expectancy of males (18.9 years) and females (21.8 years). Fecundity (primiparous age and inter-calf interval) were similar to those reported in other human impacted or recovering populations, and significantly greater than that of comparable stable populations. This suggests reproductive effort of African savanna elephants increases in relation to increased mortality (and resulting ecological ramifications) as predicted by life history theory. Further comparison across populations indicated that elongated inter-calf intervals and older ages of reproductive onset were related to age structure and density, and likely influenced by ecological conditions. This study provides detailed empirical data on elephant population dynamics strongly influenced by human

Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations

PubMed Central

Yoneyama, Sachiko; Yao, Jie; Guo, Xiuqing; Fernandez-Rhodes, Lindsay; Lim, Unhee; Boston, Jonathan; Buzková, Petra; Carlson, Christopher S.; Cheng, Iona; Cochran, Barbara; Cooper, Richard; Ehret, Georg; Fornage, Myriam; Gong, Jian; Gross, Myron; Gu, C. Charles; Haessler, Jeff; Haiman, Christopher A.; Henderson, Brian; Hindorff, Lucia A.; Houston, Denise; Irvin, Marguerite R.; Jackson, Rebecca; Kuller, Lew; Leppert, Mark; Lewis, Cora E.; Li, Rongling; Le Marchand, Loic; Matise, Tara C.; Nguyen, Khanh-Dung H.; Chakravarti, Aravinda; Pankow, James S.; Pankratz, Nathan; Pooler, Loreall; Ritchie, Marylyn D.; Bien, Stephanie A.; Wassel, Christina L.; Chen, Yii-Der I.; Taylor, Kent D.; Allison, Matthew; Rotter, Jerome I.; Schreiner, Pamela J.; Schumacher, Fredrick; Wilkens, Lynne; Boerwinkle, Eric; Kooperberg, Charles; Peters, Ulrike; Buyske, Steven; Graff, Mariaelisa; North, Kari E.

2016-01-01

Background/Objectives Central adiposity measures such as waist circumference (WC) and waist-to-hip ratio (WHR) are associated with cardiometabolic disorders independently of BMI and are gaining clinically utility. Several studies report genetic variants associated with central adiposity, but most utilize only European ancestry populations. Understanding whether the genetic associations discovered among mainly European descendants are shared with African ancestry populations will help elucidate the biological underpinnings of abdominal fat deposition. Subjects/Methods To identify the underlying functional genetic determinants of body fat distribution, we conducted an array-wide association meta-analysis among persons of African ancestry across seven studies/consortia participating in the Population Architecture using Genomics and Epidemiology (PAGE) consortium. We used the Metabochip array, designed for fine mapping cardiovascular associated loci, to explore novel array-wide associations with WC and WHR among 15 945 African descendants using all and sex-stratified groups. We further interrogated 17 known WHR regions for African ancestry-specific variants. Results Of the 17 WHR loci, eight SNPs located in four loci were replicated in the sex-combined or sex-stratified meta-analyses. Two of these eight independently associated with WHR after conditioning on the known variant in European descendants (rs12096179 in TBX15-WARS2 and rs2059092 in ADAMTS9). In the fine mapping assessment, the putative functional region was reduced across all four loci but to varying degrees (average 40% drop in number of putative SNPs and 20% drop in genomic region). Similar to previous studies, the significant SNPs in the female stratified analysis were stronger than the significant SNPs from the sex-combined analysis. No novel associations were detected in the array-wide analyses. Conclusions Of 17 previously identified loci, four loci replicated in the African ancestry populations of

Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry.

PubMed

Ramos, Paula S; Oates, James C; Kamen, Diane L; Williams, Adrienne H; Gaffney, Patrick M; Kelly, Jennifer A; Kaufman, Kenneth M; Kimberly, Robert P; Niewold, Timothy B; Jacob, Chaim O; Tsao, Betty P; Alarcón, Graciela S; Brown, Elizabeth E; Edberg, Jeffrey C; Petri, Michelle A; Ramsey-Goldman, Rosalind; Reveille, John D; Vilá, Luis M; James, Judith A; Guthridge, Joel M; Merrill, Joan T; Boackle, Susan A; Freedman, Barry I; Scofield, R Hal; Stevens, Anne M; Vyse, Timothy J; Criswell, Lindsey A; Moser, Kathy L; Alarcón-Riquelme, Marta E; Langefeld, Carl D; Harley, John B; Gilkeson, Gary S

2013-06-01

Little is known about the genetic etiology of systemic lupus erythematosus (SLE) in individuals of African ancestry, despite its higher prevalence and greater disease severity. Overproduction of nitric oxide (NO) and reactive oxygen species are implicated in the pathogenesis and severity of SLE, making NO synthases and other reactive intermediate-related genes biological candidates for disease susceptibility. We analyzed variation in reactive intermediate genes for association with SLE in 2 populations with African ancestry. A total of 244 single-nucleotide polymorphisms (SNP) from 53 regions were analyzed in non-Gullah African Americans (AA; 1432 cases and 1687 controls) and the genetically more homogeneous Gullah of the Sea Islands of South Carolina (133 cases and 112 controls). Single-marker, haplotype, and 2-locus interaction tests were computed for these populations. The glutathione reductase gene GSR (rs2253409; p = 0.0014, OR 1.26, 95% CI 1.09-1.44) was the most significant single SNP association in AA. In the Gullah, the NADH dehydrogenase NDUFS4 (rs381575; p = 0.0065, OR 2.10, 95% CI 1.23-3.59) and NO synthase gene NOS1 (rs561712; p = 0.0072, OR 0.62, 95% CI 0.44-0.88) were most strongly associated with SLE. When both populations were analyzed together, GSR remained the most significant effect (rs2253409; p = 0.00072, OR 1.26, 95% CI 1.10-1.44). Haplotype and 2-locus interaction analyses also uncovered different loci in each population. These results suggest distinct patterns of association with SLE in African-derived populations; specific loci may be more strongly associated within select population groups.

Geographical patterns of Kaposi's sarcoma, nonHodgkin lymphomas, and cervical cancer associated with HIV infection in five African populations.

PubMed

Chaabna, Karima; Boniol, Mathieu; de Vuyst, Hugo; Vanhems, Philippe; Antônio de Ávila Vitoria, Marco; Curado, Maria-Paula

2012-01-01

The objective of this study is to describe the most recent geographical patterns of incidence of AIDS-related cancers, Kaposi's sarcoma (KS), nonHodgkin lymphoma (NHL), and cervical cancer in North African and subSaharan African populations. Data were extracted for the period 1998-2002 from five African population-based cancer registries: Kyadondo, Harare, Setif, Sousse, and Gharbiah. Age-standardized rates were calculated using the African standard population; a comparison was made between these populations by computing the standardized incidence ratio and 95% confidence intervals. The KS rate was found to be significantly higher in men than in women, and higher in Harare (women: 26.3/100,000; men: 50.4/100,000) and Kyadondo (women: 23.6/100,000; men: 30.2/100,000) than in the North African sites for both sexes (<0.3/100,000). In addition, the KS rate in women from Harare was similar to that for Kyadondo. Gharbiah presented the highest rates for NHL (women: 7 per 100,000; men: 11.9/100,000) for both sexes. We observed that Harare and Kyadondo had similar age-specific incidence in the high-risk age group for HIV/AIDS (15-49 years), and these rates were 4.5-fold higher in subSaharan populations than those in the North African sites. Thus, it was observed that the pattern of HIV prevalence is variable with the lowest prevalence in North African countries, intermediate prevalence in Uganda, and the highest prevalence in Zimbabwe. Our findings show that the incidence of NHL and cervical cancer, considered to be HIV/AIDS-related cancers, does not follow the pattern of HIV prevalence in the five studied African populations. Thus, the highest NHL incidence rate in both sexes in Gambia may be explained, at least in great part, by the highest hepatitis C virus prevalence observed there. Indeed, factors other than HIV infection likely contribute to their geographical patterns.

Additive opportunistic capture explains group hunting benefits in African wild dogs.

PubMed

Hubel, Tatjana Y; Myatt, Julia P; Jordan, Neil R; Dewhirst, Oliver P; McNutt, J Weldon; Wilson, Alan M

2016-03-29

African wild dogs (Lycaon pictus) are described as highly collaborative endurance pursuit hunters based on observations derived primarily from the grass plains of East Africa. However, the remaining population of this endangered species mainly occupies mixed woodland savannah where hunting strategies appear to differ from those previously described. We used high-resolution GPS and inertial technology to record fine-scale movement of all members of a single pack of six adult African wild dogs in northern Botswana. The dogs used multiple short-distance hunting attempts with a low individual kill rate (15.5%), but high group feeding rate due to the sharing of prey. Use of high-level cooperative chase strategies (coordination and collaboration) was not recorded. In the mixed woodland habitats typical of their current range, simultaneous, opportunistic, short-distance chasing by dogs pursuing multiple prey (rather than long collaborative pursuits of single prey by multiple individuals) could be the key to their relative success in these habitats.

Additive opportunistic capture explains group hunting benefits in African wild dogs

PubMed Central

Hubel, Tatjana Y.; Myatt, Julia P.; Jordan, Neil R.; Dewhirst, Oliver P.; McNutt, J. Weldon; Wilson, Alan M.

2016-01-01

African wild dogs (Lycaon pictus) are described as highly collaborative endurance pursuit hunters based on observations derived primarily from the grass plains of East Africa. However, the remaining population of this endangered species mainly occupies mixed woodland savannah where hunting strategies appear to differ from those previously described. We used high-resolution GPS and inertial technology to record fine-scale movement of all members of a single pack of six adult African wild dogs in northern Botswana. The dogs used multiple short-distance hunting attempts with a low individual kill rate (15.5%), but high group feeding rate due to the sharing of prey. Use of high-level cooperative chase strategies (coordination and collaboration) was not recorded. In the mixed woodland habitats typical of their current range, simultaneous, opportunistic, short-distance chasing by dogs pursuing multiple prey (rather than long collaborative pursuits of single prey by multiple individuals) could be the key to their relative success in these habitats. PMID:27023355

Characterization of the genetic variation present in CYP3A4 in three South African populations.

PubMed

Drögemöller, Britt; Plummer, Marieth; Korkie, Lundi; Agenbag, Gloudi; Dunaiski, Anke; Niehaus, Dana; Koen, Liezl; Gebhardt, Stefan; Schneider, Nicol; Olckers, Antonel; Wright, Galen; Warnich, Louise

2013-01-01

The CYP3A4 enzyme is the most abundant human cytochrome P450 (CYP) and is regarded as the most important enzyme involved in drug metabolism. Inter-individual and inter-population variability in gene expression and enzyme activity are thought to be influenced, in part, by genetic variation. Although Southern African individuals have been shown to exhibit the highest levels of genetic diversity, they have been under-represented in pharmacogenetic research to date. Therefore, the aim of this study was to identify genetic variation within CYP3A4 in three South African population groups comprising of 29 Khoisan, 65 Xhosa and 65 Mixed Ancestry (MA) individuals. To identify known and novel CYP3A4 variants, 15 individuals were randomly selected from each of the population groups for bi-directional Sanger sequencing of ~600 bp of the 5'-upstream region and all thirteen exons including flanking intronic regions. Genetic variants detected were genotyped in the rest of the cohort. In total, 24 SNPs were detected, including CYP3A4(*)12, CYP3A4(*)15, and the reportedly functional CYP3A4(*)1B promoter polymorphism, as well as two novel non-synonymous variants. These putatively functional variants, p.R162W and p.Q200H, were present in two of the three populations and all three populations, respectively, and in silico analysis predicted that the former would damage the protein product. Furthermore, the three populations were shown to exhibit distinct genetic profiles. These results confirm that South African populations show unique patterns of variation in the genes encoding xenobiotic metabolizing enzymes. This research suggests that population-specific genetic profiles for CYP3A4 and other drug metabolizing genes would be essential to make full use of pharmacogenetics in Southern Africa. Further investigation is needed to determine if the identified genetic variants influence CYP3A4 metabolism phenotype in these populations.

The Teacher-Student Interactions and Academic Achievement of African American and African Immigrant Males

ERIC Educational Resources Information Center

Hussein, Hassen

2017-01-01

This quantitative survey questionnaires study compared the teacher-student interactions (TSI) and academic achievement of African-American and African immigrant undergraduate males. The academic achievement gap between different population groups provided the impetus for the study. While African Americans have been described as under-achievers in…

Prevalence of fetal alcohol syndrome in a South African city with a predominantly Black African population.

PubMed

Urban, Michael F; Olivier, Leana; Viljoen, Denis; Lombard, Chanelle; Louw, Jacobus G; Drotsky, Lian-Marie; Temmerman, Marleen; Chersich, Matthew F

2015-06-01

Fetal alcohol spectrum disorder (FASD) and fetal alcohol syndrome (FAS) are common in some South African populations, notably those of mixed ancestry descent in rural areas and small towns. Little is known about FAS/FASD prevalence in the majority of South Africans: city dwellers of Black African ethnicity. This study describes the prevalence of FAS in a South African city, comparing 2 suburbs with predominantly mixed ancestry (Roodepan) and Black African (Galeshewe) populations that house over 60% of the city population. We conducted a tiered, active case ascertainment study for the prevalence of FAS and also detected some less clinically specific FASD cases. All first-grade learners in the 2 suburbs were eligible for anthropometric screening, and screen-positive learners were assessed for dysmorphic features of FAS. Those with suggestive clinical features received neurocognitive assessment, and maternal or collateral interview. Final diagnosis was made following a case conference. Complete ascertainment of FAS status was made in 1,503 (94.7%) of 1,587 eligible learners (435 in Roodepan and 1,152 in Galeshewe). Overall, FAS was diagnosed in 83 (5.5%, 95% confidence interval [CI] = 4.4 to 6.8) learners and FASD in 96 (6.4%, 95% CI = 5.2 to 7.7). Levels of FAS were high in both areas: 26 (6.3%, 95% CI = 4.2 to 9.2) learners from Roodepan, compared to 57 (5.2%, 95% CI = 4.0 to 6.7) from Galeshewe (p = 0.39). No cases were previously diagnosed. The mortality rate for mothers of FASD children from Galeshewe was 19 of 65 (29%), compared to 3 of 31 (9.7%; p = 0.03) for Roodepan. Interviewed mothers in Galeshewe were older and had higher body mass index. Prevalence of FAS is high in both Galeshewe and Roodepan, and the lack of prior diagnoses indicates that awareness remains low. The maternal mortality rate was especially high in Galeshewe. The unexpectedly high burden of FAS in an urban area with predominantly Black African population mandates extension of

5-HTTLPR polymorphism: analysis in South African autistic individuals.

PubMed

Arieff, Zainunisha; Kaur, Mandeep; Gameeldien, Hajirah; van der Merwe, Lize; Bajic, Vladimir B

2010-06-01

The serotonin transporter promoter length polymorphism (5-hydroxytryptamine transporter length polymorphism; 5-HTTLPR) has long been implicated in autism and other psychiatric disorders. The use of selective serotonin reuptake inhibitors (SSRIs) has a positive effect on treating some symptoms of autism. The effects of these drugs vary in individuals because of the presence of the S or L allele of 5-HTTLPR. Studies performed on various autistic populations have found different allele frequencies for the L and S alleles. Allele frequencies and genotypes of the South African autistic populations (African, mixed, and Caucasian) were compared with matching South African ethnic control populations. The *S/*S genotype was found to be highly significantly associated with all the South African autistic ethnic populations. In the South African African population the *S/*S genotype was present in 7 (33%) of the autistic individuals but in none of the control subjects, yielding infinitely large odds of developing autism. The odds of developing autism with the *S/*S genotype compared to the *L/*L genotype increased 10.15-fold in the South African mixed group and 2.74-fold in the South African Caucasian population. The allele frequency of the South African autistic population was also compared with studies of other autistic populations around the world, and highly significant differences were found with the Japanese, Korean, and Indian population groups. The difference was not significant for the French, German, Israeli, Portuguese, and American groups. This is the first South African study of autistic individuals of different ethnic backgrounds that shows significant differences in allele and genotype frequencies of 5-HTTLPR. The results of this study open new avenues for investigating the role of transmission of the L and S alleles in families with autism in South Africa.

A genomic portrait of haplotype diversity and signatures of selection in indigenous southern African populations.

PubMed

Chimusa, Emile R; Meintjies, Ayton; Tchanga, Milaine; Mulder, Nicola; Seoighe, Cathal; Seioghe, Cathal; Soodyall, Himla; Ramesar, Rajkumar

2015-03-01

We report a study of genome-wide, dense SNP (∼ 900K) and copy number polymorphism data of indigenous southern Africans. We demonstrate the genetic contribution to southern and eastern African populations, which involved admixture between indigenous San, Niger-Congo-speaking and populations of Eurasian ancestry. This finding illustrates the need to account for stratification in genome-wide association studies, and that admixture mapping would likely be a successful approach in these populations. We developed a strategy to detect the signature of selection prior to and following putative admixture events. Several genomic regions show an unusual excess of Niger-Kordofanian, and unusual deficiency of both San and Eurasian ancestry, which were considered the footprints of selection after population admixture. Several SNPs with strong allele frequency differences were observed predominantly between the admixed indigenous southern African populations, and their ancestral Eurasian populations. Interestingly, many candidate genes, which were identified within the genomic regions showing signals for selection, were associated with southern African-specific high-risk, mostly communicable diseases, such as malaria, influenza, tuberculosis, and human immunodeficiency virus/AIDs. This observation suggests a potentially important role that these genes might have played in adapting to the environment. Additionally, our analyses of haplotype structure, linkage disequilibrium, recombination, copy number variation and genome-wide admixture highlight, and support the unique position of San relative to both African and non-African populations. This study contributes to a better understanding of population ancestry and selection in south-eastern African populations; and the data and results obtained will support research into the genetic contributions to infectious as well as non-communicable diseases in the region.

A Genomic Portrait of Haplotype Diversity and Signatures of Selection in Indigenous Southern African Populations

PubMed Central

Chimusa, Emile R.; Meintjies, Ayton; Tchanga, Milaine; Mulder, Nicola; Seoighe, Cathal; Soodyall, Himla; Ramesar, Rajkumar

2015-01-01

We report a study of genome-wide, dense SNP (∼900K) and copy number polymorphism data of indigenous southern Africans. We demonstrate the genetic contribution to southern and eastern African populations, which involved admixture between indigenous San, Niger-Congo-speaking and populations of Eurasian ancestry. This finding illustrates the need to account for stratification in genome-wide association studies, and that admixture mapping would likely be a successful approach in these populations. We developed a strategy to detect the signature of selection prior to and following putative admixture events. Several genomic regions show an unusual excess of Niger-Kordofanian, and unusual deficiency of both San and Eurasian ancestry, which were considered the footprints of selection after population admixture. Several SNPs with strong allele frequency differences were observed predominantly between the admixed indigenous southern African populations, and their ancestral Eurasian populations. Interestingly, many candidate genes, which were identified within the genomic regions showing signals for selection, were associated with southern African-specific high-risk, mostly communicable diseases, such as malaria, influenza, tuberculosis, and human immunodeficiency virus/AIDs. This observation suggests a potentially important role that these genes might have played in adapting to the environment. Additionally, our analyses of haplotype structure, linkage disequilibrium, recombination, copy number variation and genome-wide admixture highlight, and support the unique position of San relative to both African and non-African populations. This study contributes to a better understanding of population ancestry and selection in south-eastern African populations; and the data and results obtained will support research into the genetic contributions to infectious as well as non-communicable diseases in the region. PMID:25811879

Genetic susceptibility loci for subtypes of breast cancer in an African American population

PubMed Central

Palmer, Julie R.; Ruiz-Narvaez, Edward A.; Rotimi, Charles N.; Cupples, L. Adrienne; Cozier, Yvette C.; Adams-Campbell, Lucile L.; Rosenberg, Lynn

2012-01-01

Background Most genome-wide association scans (GWAS) have been carried out in European ancestry populations; no risk variants for breast cancer have been identified solely from African ancestry GWAS data. Few GWAS hits have replicated in African ancestry populations. Methods In a nested case-control study of breast cancer in the Black Women’s Health Study (1,199 cases/1,948 controls), we evaluated index SNPs in 21 loci from GWAS of European or Asian ancestry populations, overall, in subtypes defined by estrogen (ER) and progesterone (PR) receptor status (ER+/PR+, n=336; ER−/PR−, n=229), and in triple-negative breast cancer (TNBC, N=81). To evaluate the contribution of genetic factors to population differences in breast cancer subtype, we also examined global percent African ancestry. Results Index SNPs in five loci were replicated, including three associated with ER−/PR− breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele odds ratios were 1.29 (95% confidence interval (CI) 1.04–1.59), p=0.02, 1.52 (95% CI 1.12–2.08), p=0.01, and 1.30 (95% CI 1.01–1.68), p=0.04, respectively. Stronger associations were observed for TNBC. Furthermore, cases in the highest quintile of percent African ancestry were three times more likely to have TNBC than ER+/PR+ cancer. Conclusions These findings provide the first confirmation of the TNBC SNP rs8170 in an African ancestry population, and independent confirmation of the TERT ER− SNP. Further, the risk of developing ER− breast cancer, particularly TNBC, increased with increasing proportion of global African ancestry. Impact The findings demonstrate the importance of genetic factors in the disproportionately high occurrence of TNBC in African American women. PMID:23136140

Variable association of reactive intermediate genes with systemic lupus erythematosus (SLE) in populations with different African ancestry

PubMed Central

Ramos, Paula S.; Oates, James C.; Kamen, Diane L.; Williams, Adrienne H.; Gaffney, Patrick M.; Kelly, Jennifer A.; Kaufman, Kenneth M.; Kimberly, Robert P.; Niewold, Timothy B.; Jacob, Chaim O.; Tsao, Betty P.; Alarcón, Graciela S.; Brown, Elizabeth E.; Edberg, Jeffrey C.; Petri, Michelle A.; Ramsey-Goldman, Rosalind; Reveille, John D.; Vilá, Luis M.; James, Judith A.; Guthridge, Joel M.; Merrill, Joan T.; Boackle, Susan A.; Freedman, Barry I.; Scofield, R. Hal; Stevens, Anne M.; Vyse, Timothy J.; Criswell, Lindsey A.; Moser, Kathy L.; Alarcón-Riquelme, Marta E.; Langefeld, Carl D.; Harley, John B.; Gilkeson, Gary S.

2013-01-01

Objective Little is known about the genetic etiology of systemic lupus erythematosus (SLE) in individuals of African ancestry, despite its higher prevalence and greater disease severity. Overproduction of nitric oxide (NO) and reactive oxygen species are implicated in the pathogenesis and severity of SLE, making NO synthases and other reactive intermediate related genes biological candidates for disease susceptibility. This study analyzed variation in reactive intermediate genes for association with SLE in two populations with African ancestry. Methods A total of 244 SNPs from 53 regions were analyzed in non-Gullah African Americans (AA; 1432 cases and 1687 controls) and the genetically more homogeneous Gullah of the Sea Islands of South Carolina (133 cases and 112 controls) and. Single-marker, haplotype, and two-locus interaction tests were computed for these populations. Results The glutathione reductase gene GSR (rs2253409, P=0.0014, OR [95% CI]=1.26 [1.09–1.44]) was the most significant single-SNP association in AA. In the Gullah, the NADH dehydrogenase NDUFS4 (rs381575, P=0.0065, OR [95%CI]=2.10 [1.23–3.59]) and nitric oxide synthase gene NOS1 (rs561712, P=0.0072, OR [95%CI]=0.62 [0.44–0.88]) were most strongly associated with SLE. When both populations were analyzed together, GSR remained the most significant effect (rs2253409, P=0.00072, OR [95%CI]=1.26 [1.10–1.44]). Haplotype and two-locus interaction analyses also uncovered different loci in each population. Conclusion These results suggest distinct patterns of association with SLE in African-derived populations; specific loci may be more strongly associated within select population groups. PMID:23637325

Genetic Heterogeneity of Self-Reported Ancestry Groups in an Admixed Brazilian Population

PubMed Central

Lins, Tulio C; Vieira, Rodrigo G; Abreu, Breno S; Gentil, Paulo; Moreno-Lima, Ricardo; Oliveira, Ricardo J; Pereira, Rinaldo W

2011-01-01

Background Population stratification is the main source of spurious results and poor reproducibility in genetic association findings. Population heterogeneity can be controlled for by grouping individuals in ethnic clusters; however, in admixed populations, there is evidence that such proxies do not provide efficient stratification control. The aim of this study was to evaluate the relation of self-reported with genetic ancestry and the statistical risk of grouping an admixed sample based on self-reported ancestry. Methods A questionnaire that included an item on self-reported ancestry was completed by 189 female volunteers from an admixed Brazilian population. Individual genetic ancestry was then determined by genotyping ancestry informative markers. Results Self-reported ancestry was classified as white, intermediate, and black. The mean difference among self-reported groups was significant for European and African, but not Amerindian, genetic ancestry. Pairwise fixation index analysis revealed a significant difference among groups. However, the increase in the chance of type 1 error was estimated to be 14%. Conclusions Self-reporting of ancestry was not an appropriate methodology to cluster groups in a Brazilian population, due to high variance at the individual level. Ancestry informative markers are more useful for quantitative measurement of biological ancestry. PMID:21498954

Simultaneous determination of seven informative Y chromosome SNPs to differentiate East Asian, European, and African populations.

PubMed

Muro, Tomonori; Iida, Reiko; Fujihara, Junko; Yasuda, Toshihiro; Watanabe, Yukina; Imamura, Shinji; Nakamura, Hiroaki; Kimura-Kataoka, Kaori; Yuasa, Isao; Toga, Tomoko; Takeshita, Haruo

2011-05-01

Identification of the population origin of an individual is very useful for crime investigators who need to narrow down a suspect based on specimens left at a crime scene. Single nucleotide polymorphisms of the Y chromosome (Y-SNPs) are a class of markers of interest to forensic investigators because many of the markers indicate regional specificity, thus providing useful information about the geographic origin of a subject. We selected seven informative Y-SNPs (M168, M130, JST021355, M96, P126, P196, and P234) to differentiate the three major population groups (East Asian, European, and African) and used them to develop forensic application. SNP genotyping was carried out by multiplex PCR reaction and multiplex single base extension (MSBE) reaction followed by capillary electrophoresis of extension products. This method can be used to assign a haplogroup from both degraded male DNA samples and DNA samples containing a mixture of female and male DNA through PCR primers that generate small amplicons (less than about 150 bp) and are highly specific for targets on the Y chromosome. The allelic state of each marker was definitively determined from a total of 791 males from the three major population groups. As expected, samples from the three major population groups showed Y-haplogroups common in the region of provenance: Y haplogroups C, D, and O for East Asians; IJ and R1 for Europeans; and AB and E for Africans. Published by Elsevier Ireland Ltd.

Mitochondrial DNA (mtDNA) haplotypes reveal maternal population genetic affinities of Sea Island Gullah-speaking African Americans.

PubMed

McLean, David C; Spruill, Ida; Argyropoulos, George; Page, Grier P; Shriver, Mark D; Garvey, W Timothy

2005-08-01

To better understand the population substructure of African Americans living in coastal South Carolina, we used restriction site polymorphisms and an insertion/deletion in mitochondrial DNA (mtDNA) to construct seven-position haplotypes across 1,395 individuals from Sierra Leone, Africa, from U.S. European Americans, and from the New World African-derived populations of Jamaica, Gullah-speaking African Americans of the South Carolina Sea Islands (Gullahs), African Americans living in Charleston, South Carolina, and West Coast African Americans. Analyses showed a high degree of similarity within the New World African-derived populations, where haplotype frequencies and diversities were similar. Phi-statistics indicated that very little genetic differentiation has occurred within New World African-derived populations, but that there has been significant differentiation of these populations from Sierra Leoneans. Genetic distance estimates indicated a close relationship of Gullahs and Jamaicans with Sierra Leoneans, while African Americans living in Charleston and the West Coast were progressively more distantly related to the Sierra Leoneans. We observed low maternal European American admixture in the Jamaican and Gullah samples (m = 0.020 and 0.064, respectively) that increased sharply in a clinal pattern from Charleston African Americans to West Coast African Americans (m = 0.099 and 0.205, respectively). The appreciably reduced maternal European American admixture noted in the Gullah indicates that the Gullah may be uniquely situated to allow genetic epidemiology studies of complex diseases in African Americans with low European American admixture. (c) 2004 Wiley-Liss, Inc.

Population genomic analysis uncovers African and European admixture in Drosophila melanogaster populations from the south-eastern United States and Caribbean Islands.

PubMed

Kao, Joyce Y; Zubair, Asif; Salomon, Matthew P; Nuzhdin, Sergey V; Campo, Daniel

2015-04-01

Drosophila melanogaster is postulated to have colonized North America in the past several 100 years in two waves. Flies from Europe colonized the east coast United States while flies from Africa inhabited the Caribbean, which if true, make the south-east US and Caribbean Islands a secondary contact zone for African and European D. melanogaster. This scenario has been proposed based on phenotypes and limited genetic data. In our study, we have sequenced individual whole genomes of flies from populations in the south-east US and Caribbean Islands and examined these populations in conjunction with population sequences from the west coast US, Africa, and Europe. We find that west coast US populations are closely related to the European population, likely reflecting a rapid westward expansion upon first settlements into North America. We also find genomic evidence of African and European admixture in south-east US and Caribbean populations, with a clinal pattern of decreasing proportions of African ancestry with higher latitude. Our genomic analysis of D. melanogaster populations from the south-east US and Caribbean Islands provides more evidence for the Caribbean Islands as the source of previously reported novel African alleles found in other east coast US populations. We also find the border between the south-east US and the Caribbean island to be the admixture hot zone where distinctly African-like Caribbean flies become genomically more similar to European-like south-east US flies. Our findings have important implications for previous studies examining the generation of east coast US clines via selection. © 2015 John Wiley & Sons Ltd.

Sahara: Barrier or corridor? Nonmetric cranial traits and biological affinities of North African late Holocene populations.

PubMed

Nikita, Efthymia; Mattingly, David; Lahr, Marta Mirazón

2012-02-01

The Garamantes flourished in southwestern Libya, in the core of the Sahara Desert ~3,000 years ago and largely controlled trans-Saharan trade. Their biological affinities to other North African populations, including the Egyptian, Algerian, Tunisian and Sudanese, roughly contemporary to them, are examined by means of cranial nonmetric traits using the Mean Measure of Divergence and Mahalanobis D(2) distance. The aim is to shed light on the extent to which the Sahara Desert inhibited extensive population movements and gene flow. Our results show that the Garamantes possess distant affinities to their neighbors. This relationship may be due to the Central Sahara forming a barrier among groups, despite the archaeological evidence for extended networks of contact. The role of the Sahara as a barrier is further corroborated by the significant correlation between the Mahalanobis D(2) distance and geographic distance between the Garamantes and the other populations under study. In contrast, no clear pattern was observed when all North African populations were examined, indicating that there was no uniform gene flow in the region. Copyright © 2011 Wiley Periodicals, Inc.

Race, African ancestry, and Helicobacter pylori infection in a low-income United States population

PubMed Central

Epplein, Meira; Signorello, Lisa B.; Zheng, Wei; Peek, Richard M.; Michel, Angelika; Williams, Scott M.; Pawlita, Michael; Correa, Pelayo; Cai, Qiuyin; Blot, William J.

2011-01-01

Background Gastric cancer incidence in African Americans is twice that of whites, and differing prevalence of Helicobacter pylori strain-specific isolates may help explain the disparity. Methods Serum levels of antibodies to each of 15 Helicobacter pylori proteins were assessed using multiplex serology for a sample of 689 African American and white participants from the Southern Community Cohort Study. African and European admixture was estimated using a panel of 276 ancestry genetic markers, with “low”, “medium”, and “high” categories of African ancestry defined as <85%, 85-95%, and ≥95%. Results The majority (79%) of our study population were sero-positive for Helicobacter pylori. African American race was associated with a 2- to 6-fold increased odds for sero-positivity to 8 Helicobacter pylori proteins, including the cancer-associated virulence constituents CagA (odds ratio, 6.4; 95% confidence interval, 4.5-9.1), and VacA (odds ratio, 2.3; 95% confidence interval, 1.5-3.5). Compared to whites, African Americans of low, medium, and high African ancestry had 1.6-, 4.1-, and 5.2-fold increased odds of sero-positivity to Helicobacter pylori, primarily related to CagA sero-positive strains, for which increasing African ancestry led to 2.5-, 9.6-, and 13.1-fold increased odds. Among African Americans alone, compared to those of low African ancestry, African Americans of medium and high African ancestry had 2.5- and 3.4-fold increased odds of sero-positivity to Helicobacter pylori, and 3.5-and 4.9-fold increased odds of CagA sero-positive Helicobacter pylori strains. Conclusions Host genetic variation and/or lifestyle factors associated with African ancestry contribute to the likelihood of infection with Helicobacter pylori, particularly its virulent strains, in this low-income U.S. southern population. Impact Our findings that low-income African Americans of high African ancestry have a particularly high prevalence of antibodies against Helicobacter

Genetic diversity of lactase persistence in East African populations.

PubMed

Hassan, Hisham Y; van Erp, Anke; Jaeger, Martin; Tahir, Hanan; Oosting, Marije; Joosten, Leo A B; Netea, Mihai G

2016-01-04

The expression of lactase which digests lactose from milk in humans is generally lost after weaning, but selected mutations influencing the promoter of the lactase gene have spread into the human populations. This is considered a classical example of gene-culture co-evolution, and several studies suggested that the lactase gene has been under strong directional evolutionary selective pressure in the past 5000 to 10,000 years. In the present study we investigated the distribution of three gene variants leading to lactase persistence in 12 different East African populations as well as one European population. Our results show that with the exception of Copts and Nilotic populations who are fully lactose non-persistent, the majority of populations of East Africa show at least partly lactose persistence, with both ethnic and socio-economic aspects playing an important role in the distribution of genetic variants. In this study, the variants C/G-13907 and T/G-13915, which are the major variants among the nomadic Arabs in the Arabia and Beja of East Africa, showed remarkable frequencies in Sudanese populations, especially those of pastoralists, in line with the historical links and bidirectional migration of nomadic populations between Arabia and East Africa. The C/T-13910 variant, generally associated with European populations is uniquely present among the Fulani. These data indicate that a combination of socio-economic, ethnic and evolutionary factors converged to shape the genetic structure of lactase persistence in East African populations.

Haplotype data for 23 Y-chromosome markers in four U.S. population groups.

PubMed

Coble, Michael D; Hill, Carolyn R; Butler, John M

2013-05-01

The PowerPlex Y23 kit contains 23 Y-chromosomal loci including all 17 of the markers in the Yfiler Y-STR kit plus six additional markers: DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643. We have typed 1032 unrelated population samples from four self-declared US groups: African Americans, Asians, Hispanics, and Western European Caucasians. An analysis of the population genetic parameters and the improvement of adding additional Y-STR markers to the dataset are described. Published by Elsevier Ireland Ltd.

Portability of tag SNPs across isolated population groups: an example from India.

PubMed

Sarkar Roy, N; Farheen, S; Roy, N; Sengupta, S; Majumder, P P

2008-01-01

Isolated population groups are useful in conducting association studies of complex diseases to avoid various pitfalls, including those arising from population stratification. Since DNA resequencing is expensive, it is recommended that genotyping be carried out at tagSNP (tSNP) loci. For this, tSNPs identified in one isolated population need to be used in another. Unless tSNPs are highly portable across populations this strategy may result in loss of information in association studies. We examined the issue of tSNP portability by sampling individuals from 10 isolated ethnic groups from India. We generated DNA resequencing data pertaining to 3 genomic regions and identified tSNPs in each population. We defined an index of tSNP portability and showed that portability is low across isolated Indian ethnic groups. The extent of portability did not significantly correlate with genetic similarity among the populations studied here. We also analyzed our data with sequence data from individuals of African and European descent. Our results indicated that it may be necessary to carry out resequencing in a small number of individuals to discover SNPs and identify tSNPs in the specific isolated population in which a disease association study is to be conducted.

Genetic profile of a multi-ethnic population from Guiné-Bissau (west African coast) using the new PowerPlex 16 System kit.

PubMed

Gonçalves, Rita; Jesus, José; Fernandes, Ana Teresa; Brehm, António

2002-09-10

Allele and haplotype frequencies of 15 chromosome STR loci included in the kit PowerPlex16 System from Promega, were determined in a sample of unrelated males from Guiné-Bissau, a country from the west African coast. All individuals were subjected to an interview in order to make sure that their ancestors belonged to the same ethnic group. This way we intended to look for possible inter-ethnic differences. PowerPlex 16 includes STRs not studied before in any multi-ethnic population. The kit includes two new allele markers (Penta D and Penta E), which are very useful either in forensics or population genetic studies. The Guinean population presents significant differences when compared with other African populations.

Elevated hypertension risk for African-origin populations in biracial societies: modeling the Epidemiologic Transition Study.

PubMed

Cooper, Richard S; Forrester, Terrence E; Plange-Rhule, Jacob; Bovet, Pascal; Lambert, Estelle V; Dugas, Lara R; Cargill, Kathryn E; Durazo-Arvizu, Ramon A; Shoham, David A; Tong, Liping; Cao, Guichan; Luke, Amy

2015-03-01

Blood pressures in persons of African descent exceed those of other racial/ethnic groups in the United States. Whether this trait is attributable to the genetic factors in African-origin populations, or a result of inadequately measured environmental exposures, such as racial discrimination, is not known. To study this question, we conducted a multisite comparative study of communities in the African diaspora, drawn from metropolitan Chicago, Kingston, Jamaica, rural Ghana, Cape Town, South Africa, and the Seychelles. At each site, 500 participants between the age of 25 and 49 years, with approximately equal sex balance, were enrolled for a longitudinal study of energy expenditure and weight gain. In this study, we describe the patterns of blood pressure and hypertension observed at baseline among the sites. Mean SBP and DBP were very similar in the United States and South Africa in both men and women, although among women, the prevalence of hypertension was higher in the United States (24 vs. 17%, respectively). After adjustment for multiple covariates, relative to participants in the United States, SBP was significantly higher among the South Africans by 9.7 mmHg (P < 0.05) and significantly lower for each of the other sites: for example, Jamaica: -7.9 mmHg (P = 0.06), Ghana: -12.8 mmHg (P < 0.01) and Seychelles: -11.1 mmHg (P = 0.01). These data are consistent with prior findings of a blood pressure gradient in societies of the African diaspora and confirm that African-origin populations with lower social status in multiracial societies, such as the United States and South Africa, experience more hypertension than anticipated based on anthropometric and measurable socioeconomic risk factors.

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.

PubMed

do Rego Borges, Andrea; Sá, Jamile; Hoshi, Ryuichi; Viena, Camila Sane; Mariano, Lorena C; de Castro Veiga, Patricia; Medrado, Alena Peixoto; Machado, Renato Assis; de Aquino, Sibele Nascimento; Messetti, Ana Camila; Spritz, Richard A; Coletta, Ricardo D; Reis, Silvia R A

2015-10-01

Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL ± P, mostly in European-derived or Asian populations. Genetic predisposition to NSCL ± P is ethnicity-dependent, and the genetic basis of susceptibility to NSCL ± P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL ± P susceptibility may be quite different. This study tested association of 8 single-nucleotide polymorphisms (SNPs), previously identified by genome-wide studies in other populations, with NSCL ± P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL ± P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL ± P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25-2.01, P = 0.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21-2.07, P = 0.0002) were significantly associated with risk of NSCL ± P. Polymorphisms located in IRF6 (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL ± P in the Brazilian population with high African ancestry. © 2015 Wiley Periodicals, Inc.

Pathways to First-Episode Care for Psychosis in African-, Caribbean-, and European-Origin Groups in Ontario

PubMed Central

Anderson, Kelly K; Flora, Nina; Ferrari, Manuela; Tuck, Andrew; Archie, Suzanne; Kidd, Sean; Tang, Taryn; Kirmayer, Laurence J; McKenzie, Kwame

2015-01-01

Objective: To compare the pathways to care and duration of untreated psychosis (DUP) for people of Black-African, Black-Caribbean, or White-European origin with first-episode psychosis (FEP). Methods: We recruited a sample of 171 patients with FEP of Black-African, Black-Caribbean, and White-European origin from hospital- and community-based early intervention services (EIS) in the cities of Toronto and Hamilton. We compared the 3 groups on DUP and key indicators of the pathway to care. Results: We observed differences in pathways to care across the 3 groups. Black-Caribbean participants had an increased odds of referral from an inpatient unit to EIS (OR 3.33; 95% CI 1.46 to 7.60) and a decreased odds of general practitioner involvement on the pathway to care (OR 0.17; 95% CI 0.07 to 0.46), as well as fewer total contacts (exp[β] 0.77; 95% CI 0.60 to 0.99) when compared with White-European participants. Black-African participants had an increased odds of contact with the emergency department at first contact (OR 3.78; 95% CI 1.31 to 10.92). The differences in the DUP between groups were not statistically significant. Conclusions: Our findings suggest that there are significant differences in the pathways to EIS for psychosis for people of African and Caribbean origin in our Canadian context. It is essential to gain a comprehensive understanding of the pathways that different population groups take to mental health services, and the reasons behind observed differences, to inform the development of equitable services, targeting patients in the critical early stages of psychotic disorder. PMID:26174526

Pathways to First-Episode Care for Psychosis in African-, Caribbean-, and European-Origin Groups in Ontario.

PubMed

Anderson, Kelly K; Flora, Nina; Ferrari, Manuela; Tuck, Andrew; Archie, Suzanne; Kidd, Sean; Tang, Taryn; Kirmayer, Laurence J; McKenzie, Kwame

2015-05-01

To compare the pathways to care and duration of untreated psychosis (DUP) for people of Black-African, Black-Caribbean, or White-European origin with first-episode psychosis (FEP). We recruited a sample of 171 patients with FEP of Black-African, Black-Caribbean, and White-European origin from hospital- and community-based early intervention services (EIS) in the cities of Toronto and Hamilton. We compared the 3 groups on DUP and key indicators of the pathway to care. We observed differences in pathways to care across the 3 groups. Black-Caribbean participants had an increased odds of referral from an inpatient unit to EIS (OR 3.33; 95% CI 1.46 to 7.60) and a decreased odds of general practitioner involvement on the pathway to care (OR 0.17; 95% CI 0.07 to 0.46), as well as fewer total contacts (exp[β] 0.77; 95% CI 0.60 to 0.99) when compared with White-European participants. Black-African participants had an increased odds of contact with the emergency department at first contact (OR 3.78; 95% CI 1.31 to 10.92). The differences in the DUP between groups were not statistically significant. Our findings suggest that there are significant differences in the pathways to EIS for psychosis for people of African and Caribbean origin in our Canadian context. It is essential to gain a comprehensive understanding of the pathways that different population groups take to mental health services, and the reasons behind observed differences, to inform the development of equitable services, targeting patients in the critical early stages of psychotic disorder.

Bight of Benin: a Maternal Perspective of Four Beninese Populations and their Genetic Implications on the American Populations of African Ancestry.

PubMed

Primativo, Giuseppina; Ottoni, Claudio; Biondi, Gianfranco; Serafino, Sara; Martínez-Labarga, Cristina; Larmuseau, Maarten H D; Scardi, Michele; Decorte, Ronny; Rickards, Olga

2017-03-01

The understanding of the first movements of the ancestral populations within the African continent is still unclear, particularly in West Africa, due to several factors that have shaped the African genetic pool across time. To improve the genetic representativeness of the Beninese population and to better understand the patterns of human settlement inside West Africa and the dynamics of peopling of the Democratic Republic of Benin, we analyzed the maternal genetic variation of 193 Beninese individuals belonging to Bariba, Berba, Dendi, and Fon populations. Results support the oral traditions indicating that the western neighbouring populations have been the ancestors of the first Beninese populations, and the extant genetic structure of the Beninese populations is most likely the result of admixture between populations from neighbouring countries and native people. The present findings highlight how the Beninese populations contributed to the gene pool of the extant populations of some American populations of African ancestry. This strengthens the hypothesis that the Bight of Benin was not only an assembly point for the slave trade during the Trans-Atlantic Slave Trade but also an important slave trapping area. © 2017 John Wiley & Sons Ltd/University College London.

Age group estimation in free-ranging African elephants based on acoustic cues of low-frequency rumbles

PubMed Central

Stoeger, Angela S.; Zeppelzauer, Matthias; Baotic, Anton

2015-01-01

Animal vocal signals are increasingly used to monitor wildlife populations and to obtain estimates of species occurrence and abundance. In the future, acoustic monitoring should function not only to detect animals, but also to extract detailed information about populations by discriminating sexes, age groups, social or kin groups, and potentially individuals. Here we show that it is possible to estimate age groups of African elephants (Loxodonta africana) based on acoustic parameters extracted from rumbles recorded under field conditions in a National Park in South Africa. Statistical models reached up to 70 % correct classification to four age groups (infants, calves, juveniles, adults) and 95 % correct classification when categorising into two groups (infants/calves lumped into one group versus adults). The models revealed that parameters representing absolute frequency values have the most discriminative power. Comparable classification results were obtained by fully automated classification of rumbles by high-dimensional features that represent the entire spectral envelope, such as MFCC (75 % correct classification) and GFCC (74 % correct classification). The reported results and methods provide the scientific foundation for a future system that could potentially automatically estimate the demography of an acoustically monitored elephant group or population. PMID:25821348

Pan-African Genetic Structure in the African Buffalo (Syncerus caffer): Investigating Intraspecific Divergence

PubMed Central

Smitz, Nathalie; Berthouly, Cécile; Cornélis, Daniel; Heller, Rasmus; Van Hooft, Pim; Chardonnet, Philippe; Caron, Alexandre; Prins, Herbert; van Vuuren, Bettine Jansen; De Iongh, Hans; Michaux, Johan

2013-01-01

The African buffalo (Syncerus caffer) exhibits extreme morphological variability, which has led to controversies about the validity and taxonomic status of the various recognized subspecies. The present study aims to clarify these by inferring the pan-African spatial distribution of genetic diversity, using a comprehensive set of mitochondrial D-loop sequences from across the entire range of the species. All analyses converged on the existence of two distinct lineages, corresponding to a group encompassing West and Central African populations and a group encompassing East and Southern African populations. The former is currently assigned to two to three subspecies (S. c. nanus, S. c. brachyceros, S. c. aequinoctialis) and the latter to a separate subspecies (S. c. caffer). Forty-two per cent of the total amount of genetic diversity is explained by the between-lineage component, with one to seventeen female migrants per generation inferred as consistent with the isolation-with-migration model. The two lineages diverged between 145 000 to 449 000 years ago, with strong indications for a population expansion in both lineages, as revealed by coalescent-based analyses, summary statistics and a star-like topology of the haplotype network for the S. c. caffer lineage. A Bayesian analysis identified the most probable historical migration routes, with the Cape buffalo undertaking successive colonization events from Eastern toward Southern Africa. Furthermore, our analyses indicate that, in the West-Central African lineage, the forest ecophenotype may be a derived form of the savanna ecophenotype and not vice versa, as has previously been proposed. The African buffalo most likely expanded and diverged in the late to middle Pleistocene from an ancestral population located around the current-day Central African Republic, adapting morphologically to colonize new habitats, hence developing the variety of ecophenotypes observed today. PMID:23437100

A 3D analysis of Caucasian and African American facial morphologies in a US population.

PubMed

Talbert, Leslie; Kau, Chung How; Christou, Terpsithea; Vlachos, Christos; Souccar, Nada

2014-03-01

This study aimed to compare facial morphologies of an adult African-American population to an adult Caucasian-American population using three-dimensional (3D) surface imaging. The images were captured using a stereophotogrammetric system (3dMDface(TM) system). Subjects were aged 19-30 years, with normal body mass index and no gross craniofacial anomalies. Images were aligned and combined using RF6 Plus Pack 2 software to produce a male and female facial average for each population. The averages were superimposed and the differences were assessed. The most distinct differences were in the forehead, alar base and perioricular regions. The average difference between African-American and Caucasian-American females was 1·18±0·98 mm. The African-American females had a broader face, wider alar base and more protrusive lips. The Caucasian-American females had a more prominent chin, malar region and lower forehead. The average difference between African-American and Caucasian-American males was 1·11±1·04 mm. The African-American males had a more prominent upper forehead and periocular region, wider alar base and more protrusive lips. No notable difference occurred between chin points of the two male populations. Average faces were created from 3D photographs, and the facial morphological differences between populations and genders were compared. African-American males had a more prominent upper forehead and periocular region, wider alar base and more protrusive lips. Caucasian-American males showed a more prominent nasal tip and malar area. African-American females had broader face, wider alar base and more protrusive lips. Caucasian-American females showed a more prominent chin point, malar region and lower forehead.

Temporal pattern of africanization in a feral honeybee population from Texas inferred from mitochondrial DNA.

PubMed

Pinto, M Alice; Rubink, William L; Coulson, Robert N; Patton, John C; Johnston, J Spencer

2004-05-01

The invasion of Africanized honeybees (Apis mellifera L.) in the Americas provides a window of opportunity to study the dynamics of secondary contact of subspecies of bees that evolved in allopatry in ecologically distinctive habitats of the Old World. We report here the results of an 11-year mitochondrial DNA survey of a feral honeybee population from southern United States (Texas). The mitochondrial haplotype (mitotype) frequencies changed radically during the 11-year study period. Prior to immigration of Africanized honeybees, the resident population was essentially of eastern and western European maternal ancestry. Three years after detection of the first Africanized swarm there was a mitotype turnover in the population from predominantly eastern European to predominantly A. m. scutellata (ancestor of Africanized honeybees). This remarkable change in the mitotype composition coincided with arrival of the parasitic mite Varroa destructor, which was likely responsible for severe losses experienced by colonies of European ancestry. From 1997 onward the population stabilized with most colonies of A. m. scutellata maternal origin.

Pharmacogenomics of warfarin in populations of African descent

PubMed Central

Suarez-Kurtz, Guilherme; Botton, Mariana R

2013-01-01

Warfarin is the most commonly prescribed oral anticoagulant worldwide despite its narrow therapeutic index and the notorious inter- and intra-individual variability in dose required for the target clinical effect. Pharmacogenetic polymorphisms are major determinants of warfarin pharmacokinetic and dynamics and included in several warfarin dosing algorithms. This review focuses on warfarin pharmacogenomics in sub-Saharan peoples, African Americans and admixed Brazilians. These ‘Black’ populations differ in several aspects, notably their extent of recent admixture with Europeans, a factor which impacts on the frequency distribution of pharmacogenomic polymorphisms relevant to warfarin dose requirement for the target clinical effect. Whereas a small number of polymorphisms in VKORC1 (3673G > A, rs9923231), CYP2C9 (alleles *2 and *3, rs1799853 and rs1057910, respectively) and arguably CYP4F2 (rs2108622), may capture most of the pharmacogenomic influence on warfarin dose variance in White populations, additional polymorphisms in these, and in other, genes (e.g. CALU rs339097) increase the predictive power of pharmacogenetic warfarin dosing algorithms in the Black populations examined. A personalized strategy for initiation of warfarin therapy, allowing for improved safety and cost-effectiveness for populations of African descent must take into account their pharmacogenomic diversity, as well as socio-economical, cultural and medical factors. Accounting for this heterogeneity in algorithms that are ‘friendly’ enough to be adopted by warfarin prescribers worldwide requires gathering information from trials at different population levels, but demands also a critical appraisal of racial/ethnic labels that are commonly used in the clinical pharmacology literature but do not accurately reflect genetic ancestry and population diversity. PMID:22676711

Trial of labour and vaginal birth after previous caesarean section: A population based study of Eastern African immigrants in Victoria, Australia.

PubMed

Belihu, Fetene B; Small, Rhonda; Davey, Mary-Ann

2017-03-01

Variations in caesarean section (CS) between some immigrant groups and receiving country populations have been widely reported. Often, African immigrant women are at higher risk of CS than the receiving population in developed countries. However, evidence about subsequent mode of birth following CS for African women post-migration is lacking. The objective of this study was to examine differences in attempted and successful vaginal birth after previous caesarean (VBAC) for Eastern African immigrants (Eritrea, Ethiopia, Somalia and Sudan) compared with Australian-born women. A population-based observational study was conducted using the Victorian Perinatal Data Collection. Pearson's chi-square test and logistic regression analysis were performed to generate adjusted odds ratios for attempted and successful VBAC. Victoria, Australia. 554 Eastern African immigrants and 24,587 Australian-born eligible women with previous CS having singleton births in public care. 41.5% of Eastern African immigrant women and 26.1% Australian-born women attempted a VBAC with 50.9% of Eastern African immigrants and 60.5% of Australian-born women being successful. After adjusting for maternal demographic characteristics and available clinical confounding factors, Eastern African immigrants were more likely to attempt (OR adj 1.94, 95% CI 1.57-2.47) but less likely to succeed (OR adj 0.54 95% CI 0.41-0.71) in having a VBAC. There are disparities in attempted and successful VBAC between Eastern African origin and Australian-born women. Unsuccessful VBAC attempt is more common among Eastern African immigrants, suggesting the need for improved strategies to select and support potential candidates for vaginal birth among these immigrants to enhance success and reduce potential complications associated with failed VBAC attempt. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.

PubMed

Sugarman, Elaine A; Rohlfs, Elizabeth M; Silverman, Lawrence M; Allitto, Bernice A

2004-01-01

We reviewed CFTR mutation distribution among Hispanic and African American individuals referred for CF carrier screening and compared mutation frequencies to those derived from CF patient samples. Results from CFTR mutation analyses received from January 2001 through September 2003, were analyzed for four populations: Hispanic individuals with a CF diagnosis (n = 159) or carrier screening indication (n = 15,333) and African American individuals with a CF diagnosis (n = 108) or carrier screening indication (n = 8,973). All samples were tested for the same 87 mutation panel. In the Hispanic population, 42 mutations were identified: 30 in the patient population (77.5% detection rate) and 33 among carrier screening referrals. Five mutations not included in the ACMG/ACOG carrier screening panel (3876delA, W1089X, R1066C, S549N, 1949del84) accounted for 7.55% detection in patients and 5.58% among carriers. Among African American referrals, 33 different mutations were identified: 21 in the patient population (74.4% detection) and 23 in the carrier screening population. Together, A559T and 711+5G>A were observed at a detection rate of 3.71% in CF patients and 6.38% in carriers. The mutation distribution seen in both the carrier screening populations reflected an increased frequency of mutations with variable expression such as D1152H, R117H, and L206W. A detailed analysis of CFTR mutation distribution in the Hispanic and African American patient and carrier screening populations demonstrates that a diverse group of mutations is most appropriate for diagnostic and carrier screening in these populations. To best serve the increasingly diverse U.S. population, ethnic-specific mutations should be included in mutation panels.

FTO Genetic Variation and Association With Obesity in West Africans and African Americans

PubMed Central

Adeyemo, Adebowale; Chen, Guanjie; Zhou, Jie; Shriner, Daniel; Doumatey, Ayo; Huang, Hanxia; Rotimi, Charles

2010-01-01

OBJECTIVE The FTO gene is one of the most consistently replicated loci for obesity. However, data from populations of African ancestry are limited. We evaluated genetic variation in the FTO gene and investigated associations with obesity in West Africans and African Americans. RESEARCH DESIGN AND METHODS The study samples comprised 968 African Americans (59% female, mean age 49 years, mean BMI 30.8 kg/m2) and 517 West Africans (58% female, mean age 54 years, mean BMI 25.5 kg/m2). FTO genetic variation was evaluated by genotyping 262 tag single nucleotide polymorphisms (SNPs) across the entire gene. Association of each SNP with BMI, waist circumference, and percent fat mass was investigated under an additive model. RESULTS As expected, both African-ancestry samples showed weaker linkage disequilibrium (LD) patterns compared with other continental (e.g., European) populations. Several intron 8 SNPs, in addition to intron 1 SNPs, showed significant associations in both study samples. The combined effect size for BMI for the top SNPs from meta-analysis was 0.77 kg/m2 (P = 0.009, rs9932411) and 0.70 kg/m2 (P = 0.006, rs7191513). Two previously reported associations with intron 1 SNPs (rs1121980 and rs7204609, r2 = 0.001) were replicated among the West Africans. CONCLUSIONS The FTO gene shows significant differences in allele frequency and LD patterns in populations of African ancestry compared with other continental populations. Despite these differences, we observed evidence of associations with obesity in African Americans and West Africans, as well as evidence of heterogeneity in association. More studies of FTO in multiple ethnic groups are needed. PMID:20299471

Group Counseling for African American Elementary Students: An Exploratory Study

ERIC Educational Resources Information Center

Steen, Sam

2009-01-01

This article describes a group counseling intervention promoting academic achievement and ethnic identity development for twenty fifth grade African American elementary students. The Multigroup Ethnic Identity Measure (MEIM) scores of students participating in the treatment group improved significantly over those in the control group. Implications…

Evaluation of Group Genetic Ancestry of Populations from Philadelphia and Dakar in the Context of Sex-Biased Admixture in the Americas

PubMed Central

Stefflova, Klara; Dulik, Matthew C.; Pai, Athma A.; Walker, Amy H.; Zeigler-Johnson, Charnita M.; Gueye, Serigne M.; Schurr, Theodore G.; Rebbeck, Timothy R.

2009-01-01

Background Population history can be reflected in group genetic ancestry, where genomic variation captured by the mitochondrial DNA (mtDNA) and non-recombining portion of the Y chromosome (NRY) can separate female- and male-specific admixture processes. Genetic ancestry may influence genetic association studies due to differences in individual admixture within recently admixed populations like African Americans. Principal Findings We evaluated the genetic ancestry of Senegalese as well as European Americans and African Americans from Philadelphia. Senegalese mtDNA consisted of ∼12% U haplotypes (U6 and U5b1b haplotypes, common in North Africa) while the NRY haplotypes belonged solely to haplogroup E. In Philadelphia, we observed varying degrees of admixture. While African Americans have 9–10% mtDNAs and ∼31% NRYs of European origin, these results are not mirrored in the mtDNA/NRY pools of European Americans: they have less than 7% mtDNAs and less than 2% NRYs from non-European sources. Additionally, there is <2% Native American contribution to Philadelphian African American ancestry and the admixture from combined mtDNA/NRY estimates is consistent with the admixture derived from autosomal genetic data. To further dissect these estimates, we have analyzed our samples in the context of different demographic groups in the Americas. Conclusions We found that sex-biased admixture in African-derived populations is present throughout the Americas, with continual influence of European males, while Native American females contribute mainly to populations of the Caribbean and South America. The high non-European female contribution to the pool of European-derived populations is consistently characteristic of Iberian colonization. These data suggest that genomic data correlate well with historical records of colonization in the Americas. PMID:19946364

Shovel-shaped incisors and associated invagination in some Asian and African populations.

PubMed

Kharat, D U; Saini, T S; Mokeem, S

1990-08-01

Shovelling of the incisors is considered to be a polygenic inheritable trait. Shovelling differs considerably between groups of racial populations but is relatively stable within each group. Presence or absence of shovelling helps in racial identification and in exploration of ancestry. Periapical radiographs of patients of several nationalities from Asian and African continents were obtained. Shovelling and invaginations associated with the shovel-shaped incisors was studied according to nationality. Results indicated that the incidence of shovelling in Syrians, Jordanians, Palestinians and Filipinos was 5-6 per cent. In Saudi Arabians, Pakistanis and Indians, the incidence of shovelling was 10-12 per cent. Among Yemenis, Sudanese and Egyptians, the incidence of shovelling was 20-25 percent. The occurrence of invaginations in shovel-shaped incisors was 11 per cent.

Fostering Healthy Lifestyles in the African American Population

ERIC Educational Resources Information Center

Murimi, Mary; Chrisman, Matthew S.; McAllister, Tiffany; McDonald, Olevia D.

2015-01-01

Approximately 8.3% of the U.S. population (25.8 million people) is affected by type 2 diabetes. The burden of diabetes is disproportionately greater in the African American community. Compared with non-Hispanic Caucasian adults, the risk of diagnosed type 2 diabetes was 77% higher among non-Hispanic Blacks, who are 27% more likely to die of…

International Studies in Dementia With Particular Emphasis on Populations of African Origin

PubMed Central

Hendrie, Hugh C.; Murrell, Jill; Gao, Sujuan; Unverzagt, Fredrick W.; Ogunniyi, Adesola; Hall, Kathleen S.

2011-01-01

Epidemiologic studies on dementia generally have 2 major interacting objectives: descriptive, where rates of dementia and Alzheimer Disease (AD) are calculated for communities and selected populations, and analytic, which attempt to explain the observed phenotypic variations in communities and populations by identifying disease risk factors. The public health benefits derived from descriptive studies are exemplified by the recent published review of the global prevalence of dementia under the auspices of Alzheimer Disease International. This review emphasized the enormous and growing burden associated with dementia particularly for countries in the developing world and outlined strategies to influence policy making, planning, and healthcare allocation. One interesting feature of descriptive studies on dementia is that although the few epidemiologic studies conducted in Africa suggest that rates of dementia and AD are relatively low, rates of AD and dementia have been reported to be relatively high for African Americans. The Indianapolis-Ibadan Dementia Project has reported that the incidence rates for AD and dementia in Yoruba are less than half the incidence rates for AD and dementia in African Americans. Analytic studies are now underway to identify risk factors that may account for these rate differences. The risk factor model being applied, attempts to identify not only putative genetic and environmental factors but also their interactions. So far the major findings have included: apolipoprotein E e4, a major risk factor for AD in most populations, is also a risk factor for AD in African Americans but not for Yoruba; African Americans are at higher risk not only for AD, but also for diseases associated with increased cardiovascular risk such as hypertension, diabetes, and metabolic syndrome; African Americans have higher rates of hypercholesterolemia than Yoruba: there is an interaction between apolipoprotein E e4, cholesterol, and AD risk in both Yoruba and

International studies in dementia with particular emphasis on populations of African origin.

PubMed

Hendrie, Hugh C; Murrell, Jill; Gao, Sujuan; Unverzagt, Fredrick W; Ogunniyi, Adesola; Hall, Kathleen S

2006-01-01

Epidemiologic studies on dementia generally have 2 major interacting objectives: descriptive, where rates of dementia and Alzheimer Disease (AD) are calculated for communities and selected populations, and analytic, which attempt to explain the observed phenotypic variations in communities and populations by identifying disease risk factors. The public health benefits derived from descriptive studies are exemplified by the recent published review of the global prevalence of dementia under the auspices of Alzheimer Disease International. This review emphasized the enormous and growing burden associated with dementia particularly for countries in the developing world and outlined strategies to influence policy making, planning, and healthcare allocation. One interesting feature of descriptive studies on dementia is that although the few epidemiologic studies conducted in Africa suggest that rates of dementia and AD are relatively low, rates of AD and dementia have been reported to be relatively high for African Americans. The Indianapolis-Ibadan Dementia Project has reported that the incidence rates for AD and dementia in Yoruba are less than half the incidence rates for AD and dementia in African Americans. Analytic studies are now underway to identify risk factors that may account for these rate differences. The risk factor model being applied, attempts to identify not only putative genetic and environmental factors but also their interactions. So far the major findings have included: apolipoprotein E e4, a major risk factor for AD in most populations, is also a risk factor for AD in African Americans but not for Yoruba; African Americans are at higher risk not only for AD, but also for diseases associated with increased cardiovascular risk such as hypertension, diabetes, and metabolic syndrome; African Americans have higher rates of hypercholesterolemia than Yoruba: there is an interaction between apolipoprotein E e4, cholesterol, and AD risk in both Yoruba and

Pharmacogenomics of warfarin in populations of African descent.

PubMed

Suarez-Kurtz, Guilherme; Botton, Mariana R

2013-02-01

Warfarin is the most commonly prescribed oral anticoagulant worldwide despite its narrow therapeutic index and the notorious inter- and intra-individual variability in dose required for the target clinical effect. Pharmacogenetic polymorphisms are major determinants of warfarin pharmacokinetic and dynamics and included in several warfarin dosing algorithms. This review focuses on warfarin pharmacogenomics in sub-Saharan peoples, African Americans and admixed Brazilians. These 'Black' populations differ in several aspects, notably their extent of recent admixture with Europeans, a factor which impacts on the frequency distribution of pharmacogenomic polymorphisms relevant to warfarin dose requirement for the target clinical effect. Whereas a small number of polymorphisms in VKORC1 (3673G > A, rs9923231), CYP2C9 (alleles *2 and *3, rs1799853 and rs1057910, respectively) and arguably CYP4F2 (rs2108622), may capture most of the pharmacogenomic influence on warfarin dose variance in White populations, additional polymorphisms in these, and in other, genes (e.g. CALU rs339097) increase the predictive power of pharmacogenetic warfarin dosing algorithms in the Black populations examined. A personalized strategy for initiation of warfarin therapy, allowing for improved safety and cost-effectiveness for populations of African descent must take into account their pharmacogenomic diversity, as well as socio-economical, cultural and medical factors. Accounting for this heterogeneity in algorithms that are 'friendly' enough to be adopted by warfarin prescribers worldwide requires gathering information from trials at different population levels, but demands also a critical appraisal of racial/ethnic labels that are commonly used in the clinical pharmacology literature but do not accurately reflect genetic ancestry and population diversity. © 2012 The Authors. British Journal of Clinical Pharmacology © 2012 The British Pharmacological Society.

Thin-plate spline analysis of the cranial base in African, Asian and European populations and its relationship with different malocclusions.

PubMed

Rosas, Antonio; Bastir, Markus; Alarcón, Jose Antonio; Kuroe, Kazuto

2008-09-01

To test the hypothesis that midline basicranial orientation and posterior cranial base length are discriminating factors between adults of different populations and its potential maxillo/mandibular disharmonies. Twenty-nine 2D landmarks of the midline cranial base, the face and the mandible of dry skull X-rays from three major populations (45 Asians, 34 Africans, 64 Europeans) were digitized and analysed by geometric morphometrics. We used, first, MANOVA to test for mean shape differences between populations; then, principal components analysis (PCA) to assess the overall variation in the sample and finally, canonical variate analysis (CVA) with jack-knife validations (N=1000) to analyse the anatomical features that best distinguished among populations. Significant mean shapes differences were shown between populations (P<0.001). CVA revealed two significant axes of discrimination (P<0.001). Jack-knife validation correctly identified 92% of 15,000 unknowns. In Africans the whole cranial base is rotated into a forward-downward position, while in Asians it is rotated in the opposite way. The Europeans occupied an intermediate position. African and Asian samples showed a maxillo/mandibular prognathism. African prognathism was produced by an anterior positioned maxilla, Asian prognathism by retruded anterior cranial base and increase of the posterior cranial base length. Europeans showed a trend towards retracted mandibles with relatively shorter posterior cranial bases. The results supported the hypothesis that basicranial orientation and posterior cranial base length are valid factors to distinguish between geographic groups. The whole craniofacial configuration underlying a particular maxillo-facial disharmony must be considered in diagnosis, growth predictions and resulting treatment planning.

Weight-related differences in glucose metabolism and free fatty acid production in two South African population groups.

PubMed

Punyadeera, C; van der Merwe, M T; Crowther, N J; Toman, M; Immelman, A R; Schlaphoff, G P; Gray, I P

2001-08-01

The effects of free fatty acids (FFA), leptin, tumour necrosis factor (TNF) alpha and body fat distribution on in vivo oxidation of a glucose load were studied in two South African ethnic groups. Anthropometric and various metabolic indices were measured at fasting and during a 7 h oral glucose tolerance test (OGTT). Body composition was measured using bioelectrical impedance analysis and subcutaneous and visceral fat mass was assessed using a five- and two-level CT-scan respectively. Glucose oxidation was evaluated by measuring the ratio of (13)CO(2) to (12)CO(2) in breath following ingestion of 1-(13)C-labelled glucose. Ten lean black women (LBW), ten obese black women (OBW), nine lean white women (LWW) and nine obese white women (OWW) were investigated after an overnight fast. Visceral fat levels were significantly higher (P<0.01) in obese white than black women, despite similar body mass indexes (BMIs). There were no ethnic differences in glucose oxidation however; in the lean subjects of both ethnic groups the area under the curve (AUC) was higher than in obese subjects (P<0.05 for both) and was found to correlate negatively with weight (r=-0.69, P<0.01) after correcting for age. Basal TNF alpha concentrations were similar in all groups. Percentage suppression of FFAs at 30 min of the OGTT was 24+/-12% in OWW and -38+/-23% (P<0.05) in OBW, ie the 30 min FFA level was higher than the fasting level in the latter group. AUC for FFAs during the late postprandial period (120--420 min) was significantly higher in OWW than OBW (P<0.01) and LWW (P<0.01) and correlated positively with visceral fat mass independent of age (r=0.78, P<0.05) in the OWW only. Leptin levels were higher (P<0.01) both at fasting and during the course of the OGTT in obese women from both ethnic groups compared to the lean women. Glucose oxidation is reduced in obese subjects of both ethnic groups; inter- and intra-ethnic differences were observed in visceral fat mass and FFA production and it

An African Ancestry-Specific Allele of CTLA4 Confers Protection against Rheumatoid Arthritis in African Americans

PubMed Central

Kelley, James M.; Hughes, Laura B.; Faggard, Jeffrey D.; Danila, Maria I.; Crawford, Monica H.; Edberg, Yuanqing; Padilla, Miguel A.; Tiwari, Hemant K.; Westfall, Andrew O.; Alarcón, Graciela S.; Conn, Doyt L.; Jonas, Beth L.; Callahan, Leigh F.; Smith, Edwin A.; Brasington, Richard D.; Allison, David B.; Kimberly, Robert P.; Moreland, Larry W.; Edberg, Jeffrey C.; Bridges, S. Louis

2009-01-01

Cytotoxic T-lymphocyte associated protein 4 (CTLA4) is a negative regulator of T-cell proliferation. Polymorphisms in CTLA4 have been inconsistently associated with susceptibility to rheumatoid arthritis (RA) in populations of European ancestry but have not been examined in African Americans. The prevalence of RA in most populations of European and Asian ancestry is ∼1.0%; RA is purportedly less common in black Africans, with little known about its prevalence in African Americans. We sought to determine if CTLA4 polymorphisms are associated with RA in African Americans. We performed a 2-stage analysis of 12 haplotype tagging single nucleotide polymorphisms (SNPs) across CTLA4 in a total of 505 African American RA patients and 712 African American controls using Illumina and TaqMan platforms. The minor allele (G) of the rs231778 SNP was 0.054 in RA patients, compared to 0.209 in controls (4.462×10−26, Fisher's exact). The presence of the G allele was associated with a substantially reduced odds ratio (OR) of having RA (AG+GG genotypes vs. AA genotype, OR 0.19, 95% CI: 0.13–0.26, p = 2.4×10−28, Fisher's exact), suggesting a protective effect. This SNP is polymorphic in the African population (minor allele frequency [MAF] 0.09 in the Yoruba population), but is very rare in other groups (MAF = 0.002 in 530 Caucasians genotyped for this study). Markers associated with RA in populations of European ancestry (rs3087243 [+60C/T] and rs231775 [+49A/G]) were not replicated in African Americans. We found no confounding of association for rs231778 after stratifying for the HLA-DRB1 shared epitope, presence of anti-cyclic citrullinated peptide antibody, or degree of admixture from the European population. An African ancestry-specific genetic variant of CTLA4 appears to be associated with protection from RA in African Americans. This finding may explain, in part, the relatively low prevalence of RA in black African populations. PMID:19300490

The Genetic Structure and History of Africans and African Americans

PubMed Central

Tishkoff, Sarah A.; Reed, Floyd A.; Friedlaender, Françoise R.; Ehret, Christopher; Ranciaro, Alessia; Froment, Alain; Hirbo, Jibril B.; Awomoyi, Agnes A.; Bodo, Jean-Marie; Doumbo, Ogobara; Ibrahim, Muntaser; Juma, Abdalla T.; Kotze, Maritha J.; Lema, Godfrey; Moore, Jason H.; Mortensen, Holly; Nyambo, Thomas B.; Omar, Sabah A.; Powell, Kweli; Pretorius, Gideon S.; Smith, Michael W.; Thera, Mahamadou A.; Wambebe, Charles; Weber, James L.; Williams, Scott M.

2010-01-01

Africa is the source of all modern humans, but characterization of genetic variation and of relationships among populations across the continent has been enigmatic. We studied 121 African populations, four African American populations, and 60 non-African populations for patterns of variation at 1327 nuclear microsatellite and insertion/deletion markers. We identified 14 ancestral population clusters in Africa that correlate with self-described ethnicity and shared cultural and/or linguistic properties. We observed high levels of mixed ancestry in most populations, reflecting historical migration events across the continent. Our data also provide evidence for shared ancestry among geographically diverse hunter-gatherer populations (Khoesan speakers and Pygmies). The ancestry of African Americans is predominantly from Niger-Kordofanian (~71%), European (~13%), and other African (~8%) populations, although admixture levels varied considerably among individuals. This study helps tease apart the complex evolutionary history of Africans and African Americans, aiding both anthropological and genetic epidemiologic studies. PMID:19407144

Identification of Four Novel Loci in Asthma in European American and African American Populations.

PubMed

Almoguera, Berta; Vazquez, Lyam; Mentch, Frank; Connolly, John; Pacheco, Jennifer A; Sundaresan, Agnes S; Peissig, Peggy L; Linneman, James G; McCarty, Catherine A; Crosslin, David; Carrell, David S; Lingren, Todd; Namjou-Khales, Bahram; Harley, John B; Larson, Eric; Jarvik, Gail P; Brilliant, Murray; Williams, Marc S; Kullo, Iftikhar J; Hysinger, Erik B; Sleiman, Patrick M A; Hakonarson, Hakon

2017-02-15

Despite significant advances in knowledge of the genetic architecture of asthma, specific contributors to the variability in the burden between populations remain uncovered. To identify additional genetic susceptibility factors of asthma in European American and African American populations. A phenotyping algorithm mining electronic medical records was developed and validated to recruit cases with asthma and control subjects from the Electronic Medical Records and Genomics network. Genome-wide association analyses were performed in pediatric and adult asthma cases and control subjects with European American and African American ancestry followed by metaanalysis. Nominally significant results were reanalyzed conditioning on allergy status. The validation of the algorithm yielded an average of 95.8% positive predictive values for both cases and control subjects. The algorithm accrued 21,644 subjects (65.83% European American and 34.17% African American). We identified four novel population-specific associations with asthma after metaanalyses: loci 6p21.31, 9p21.2, and 10q21.3 in the European American population, and the PTGES gene in African Americans. TEK at 9p21.2, which encodes TIE2, has been shown to be involved in remodeling the airway wall in asthma, and the association remained significant after conditioning by allergy. PTGES, which encodes the prostaglandin E synthase, has also been linked to asthma, where deficient prostaglandin E 2 synthesis has been associated with airway remodeling. This study adds to understanding of the genetic architecture of asthma in European Americans and African Americans and reinforces the need to study populations of diverse ethnic backgrounds to identify shared and unique genetic predictors of asthma.

Identification of Four Novel Loci in Asthma in European American and African American Populations

PubMed Central

Almoguera, Berta; Vazquez, Lyam; Mentch, Frank; Connolly, John; Pacheco, Jennifer A.; Sundaresan, Agnes S.; Peissig, Peggy L.; Linneman, James G.; McCarty, Catherine A.; Crosslin, David; Carrell, David S.; Lingren, Todd; Namjou-Khales, Bahram; Harley, John B.; Larson, Eric; Jarvik, Gail P.; Brilliant, Murray; Williams, Marc S.; Kullo, Iftikhar J.; Hysinger, Erik B.; Hakonarson, Hakon

2017-01-01

Rationale: Despite significant advances in knowledge of the genetic architecture of asthma, specific contributors to the variability in the burden between populations remain uncovered. Objectives: To identify additional genetic susceptibility factors of asthma in European American and African American populations. Methods: A phenotyping algorithm mining electronic medical records was developed and validated to recruit cases with asthma and control subjects from the Electronic Medical Records and Genomics network. Genome-wide association analyses were performed in pediatric and adult asthma cases and control subjects with European American and African American ancestry followed by metaanalysis. Nominally significant results were reanalyzed conditioning on allergy status. Measurements and Main Results: The validation of the algorithm yielded an average of 95.8% positive predictive values for both cases and control subjects. The algorithm accrued 21,644 subjects (65.83% European American and 34.17% African American). We identified four novel population-specific associations with asthma after metaanalyses: loci 6p21.31, 9p21.2, and 10q21.3 in the European American population, and the PTGES gene in African Americans. TEK at 9p21.2, which encodes TIE2, has been shown to be involved in remodeling the airway wall in asthma, and the association remained significant after conditioning by allergy. PTGES, which encodes the prostaglandin E synthase, has also been linked to asthma, where deficient prostaglandin E2 synthesis has been associated with airway remodeling. Conclusions: This study adds to understanding of the genetic architecture of asthma in European Americans and African Americans and reinforces the need to study populations of diverse ethnic backgrounds to identify shared and unique genetic predictors of asthma. PMID:27611488

Breast cancer incidence and mortality in a Caribbean population: comparisons with African-Americans.

PubMed

Hennis, Anselm J; Hambleton, Ian R; Wu, Suh-Yuh; Leske, Maria Cristina; Nemesure, Barbara

2009-01-15

We describe breast cancer incidence and mortality in the predominantly African-origin population of Barbados, which shares an ancestral origin with African-Americans. Age-standardized incidence rates were calculated from histologically confirmed breast cancer cases identified during a 45-month period (July 2002-March 2006). Mortality rates were estimated from death registrations over 10-years starting January 1995. There were 396 incident cases of breast cancer for an incidence rate of 78.1 (95% confidence interval (CI) 70.5-86.3), standardized to the US population. Breast cancer incidence in African-Americans between 2000 and 2004 was 143.7 (142.0-145.5) per 100,000. Incidence peaked at 226.6 (174.5-289.4) per 100,000 among Barbadian women aged 50-54 years, and declined thereafter, a pattern in marked contrast to trends in African-American women, whose rates continued to increase to a peak of 483.5 per 100,000 in those aged 75-79 years. Incidence rate ratios comparing Barbadian and African-American women showed no statistically significant differences among women aged>or=55 years (pAfrican-American women may suggest a greater contribution from genetic factors in younger women, and from environmental factors in older women. Studies in intermediate risk populations, such as Barbados, may assist the understanding of racial disparities in breast cancer. Copyright (c) 2008 Wiley-Liss, Inc.

Population differences in the postcrania of modern South Africans and the implications for ancestry estimation.

PubMed

Liebenberg, Leandi; L'Abbé, Ericka N; Stull, Kyra E

2015-12-01

The cranium is widely recognized as the most important skeletal element to use when evaluating population differences and estimating ancestry. However, the cranium is not always intact or available for analysis, which emphasizes the need for postcranial alternatives. The purpose of this study was to quantify postcraniometric differences among South Africans that can be used to estimate ancestry. Thirty-nine standard measurements from 11 postcranial bones were collected from 360 modern black, white and coloured South Africans; the sex and ancestry distribution were equal. Group differences were explored with analysis of variance (ANOVA) and Tukey's honestly significant difference (HSD) test. Linear and flexible discriminant analysis (LDA and FDA, respectively) were conducted with bone models as well as numerous multivariate subsets to identify the model and method that yielded the highest correct classifications. Leave-one-out (LDA) and k-fold (k=10; FDA) cross-validation with equal priors were used for all models. ANOVA and Tukey's HSD results reveal statistically significant differences between at least two of the three groups for the majority of the variables, with varying degrees of group overlap. Bone models, which consisted of all measurements per bone, resulted in low accuracies that ranged from 46% to 63% (LDA) and 41% to 66% (FDA). In contrast, the multivariate subsets, which consisted of different variable combinations from all elements, achieved accuracies as high as 85% (LDA) and 87% (FDA). Thus, when using a multivariate approach, the postcranial skeleton can distinguish among three modern South African groups with high accuracy. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

[Distribution of three polymorphisms of the TSLP gen in African-descendent population from San Basilio de Palenque, Colombia].

PubMed

Fang, Luis; Martínez, Beatriz; Marrugo, Javier

2013-01-01

Thymic stromal lymphopoietin (TSLP) has been linked as a susceptibility gene for the development of allergic diseases. It is known that the population of Cartagena is a triethnic mix, in which the component of African ancestry was significantly associated with risk of asthma and high total serum IgE levels. This component comes from African slaves brought into the continent and settled in "palenques", one of them is San Basilio de Palenque, in the Colombian Caribbean Coast. To analyze the distribution of single nucleotide polymorphisms (SNP) rs1837253, rs17551370 and rs2289276 located in TSLP gene, in the African-descendent population of San Basilio de Palenque. By real time-PCR and probes TaqMan SNP Genotyping™, we genotyped three polymorphisms in 80 individuals of African-descent aged 5 to 18 years of age. The frequency of the rs1837253 allele T was 41.9%, for the allele A, 14.3% for rs17551370, and 22.5% for the allele T of rs2289276. The rs17551370 and rs2289276 distribution remained in Hardy- Weinberg genetic equilibrium. The allele frequency of each SNP did not show statistically significant differences with those reported for other African and African-descendent populations. The three polymorphisms in the TSLP were present in the sample population of San Basilio de Palenque and its distribution is similar to that reported for African populations and African ancestry in America.

The population genetics of Quechuas, the largest native South American group: autosomal sequences, SNPs, and microsatellites evidence high level of diversity.

PubMed

Scliar, Marilia O; Soares-Souza, Giordano B; Chevitarese, Juliana; Lemos, Livia; Magalhães, Wagner C S; Fagundes, Nelson J; Bonatto, Sandro L; Yeager, Meredith; Chanock, Stephen J; Tarazona-Santos, Eduardo

2012-03-01

Elucidating the pattern of genetic diversity for non-European populations is necessary to make the benefits of human genetics research available to individuals from these groups. In the era of large human genomic initiatives, Native American populations have been neglected, in particular, the Quechua, the largest South Amerindian group settled along the Andes. We characterized the genetic diversity of a Quechua population in a global setting, using autosomal noncoding sequences (nine unlinked loci for a total of 16 kb), 351 unlinked SNPs and 678 microsatellites and tested predictions of the model of the evolution of Native Americans proposed by (Tarazona-Santos et al.: Am J Hum Genet 68 (2001) 1485-1496). European admixture is <5% and African ancestry is barely detectable in the studied population. The largest genetic distances were between African versus Quechua or Melanesian populations, which is concordant with the African origin of modern humans and the fact that South America was the last part of the world to be peopled. The diversity in the Quechua population is comparable with that of Eurasian populations, and the allele frequency spectrum based on resequencing data does not reflect a reduction in the proportion of rare alleles. Thus, the Quechua population is a large reservoir of common and rare genetic variants of South Amerindians. These results are consistent with and complement our evolutionary model of South Amerindians (Tarazona-Santos et al.: Am J Hum Genet 68 (2001) 1485-1496), proposed based on Y-chromosome data, which predicts high genomic diversity due to the high level of gene flow between Andean populations and their long-term effective population size. Copyright © 2012 Wiley Periodicals, Inc.

Heritage characteristics reported by a group of African-Americans who exhibit the pigment dispersion syndrome: a case-control study.

PubMed

Roberts, D K; Ho, L A; Beedle, N L; Flynn, F M; Gable, E M

2000-11-01

To investigate the racial heritage of a group of African-Americans who exhibit the pigment dispersion syndrome (PDS). Ten unrelated African-American PDS patients (age range 13-59) from a primary eye care population in Chicago, Illinois, USA, were interviewed to determine their racial heritage. Since Caucasian and Native American heritage were commonly reported, 101 unaffected African-American control subjects (age range 18-55) were also interviewed to determine the reported frequency of these specific racial heritage characteristics. Some degree of Caucasian heritage was reported by 100% of the PDS subjects and by 46.5% of controls. Native American heritage was reported by 90% of the PDS subjects and by 71.3% of controls. Based on these data, the PDS subjects were significantly more likely to report Caucasian heritage (Fisher's exact test, P=0.001) but they were not significantly more likely to report Native American heritage (P=0.282). In addition, the PDS subjects were significantly more likely to report Caucasian heritage from both parents (P=0.024) and more likely to report a combination of both Caucasian and Native American heritage (P=0.0006) than corresponding controls. In general, the PDS subjects had 'light' or 'medium' complexions. Results from this analysis are consistent with the hypothesis that non-African heritage, particularly Caucasian, is likely to be prevalent in the background of African-Americans who exhibit PDS. It is suggested that non-African heritage may not only be important for the transference of PDS causing genes, but it may also influence factors such as degree of iris pigmentation and rigidity which could influence iris contour and the subsequent expression of PDS in those who are genetically predisposed. Further investigation is needed to study the factors that influence the expression and severity of PDS among African-Americans, a population which traditionally has been considered to be rarely affected by this condition.

Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.

PubMed

Gichohi-Wainaina, Wanjiku N; Tanaka, Toshiko; Towers, G Wayne; Verhoef, Hans; Veenemans, Jacobien; Talsma, Elise F; Harryvan, Jan; Boekschoten, Mark V; Feskens, Edith J; Melse-Boonstra, Alida

2016-01-01

Large genome-wide association (GWA) studies of European ancestry individuals have identified multiple genetic variants influencing iron status. Studies on the generalizability of these associations to African ancestry populations have been limited. These studies are important given interethnic differences in iron status and the disproportionate burden of iron deficiency among African ancestry populations. We tested the associations of 20 previously identified iron status-associated single nucleotide polymorphisms (SNPs) in 628 Kenyans, 609 Tanzanians, 608 South Africans and 228 African Americans. In each study, we examined the associations present between 20 SNPs with ferritin and haemoglobin, adjusting for age, sex and CRP levels. In the meta analysis including all 4 African ancestry cohorts, we replicated previously reported associations with lowered haemoglobin concentrations for rs2413450 (β = -0.19, P = 0.02) and rs4820268 (β = -0.16, P = 0.04) in TMPRSS6. An association with increased ferritin concentrations was also confirmed for rs1867504 in TF (β = 1.04, P = <0.0001) in the meta analysis including the African cohorts only. In all meta analyses, we only replicated 4 of the 20 single nucleotide polymorphisms reported to be associated with iron status in large GWA studies of European ancestry individuals. While there is now evidence for the associations of a number of genetic variants with iron status in both European and African ancestry populations, the considerable lack of concordance highlights the importance of continued ancestry-specific studies to elucidate the genetic underpinnings of iron status in ethnically diverse populations.

Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry

PubMed Central

Tanaka, Toshiko; Towers, G. Wayne; Verhoef, Hans; Veenemans, Jacobien; Talsma, Elise F.; Harryvan, Jan; Boekschoten, Mark V.; Feskens, Edith J.; Melse-Boonstra, Alida

2016-01-01

Background Large genome-wide association (GWA) studies of European ancestry individuals have identified multiple genetic variants influencing iron status. Studies on the generalizability of these associations to African ancestry populations have been limited. These studies are important given interethnic differences in iron status and the disproportionate burden of iron deficiency among African ancestry populations. Methods We tested the associations of 20 previously identified iron status-associated single nucleotide polymorphisms (SNPs) in 628 Kenyans, 609 Tanzanians, 608 South Africans and 228 African Americans. In each study, we examined the associations present between 20 SNPs with ferritin and haemoglobin, adjusting for age, sex and CRP levels. Results In the meta analysis including all 4 African ancestry cohorts, we replicated previously reported associations with lowered haemoglobin concentrations for rs2413450 (β = -0.19, P = 0.02) and rs4820268 (β = -0.16, P = 0.04) in TMPRSS6. An association with increased ferritin concentrations was also confirmed for rs1867504 in TF (β = 1.04, P = <0.0001) in the meta analysis including the African cohorts only. Conclusions In all meta analyses, we only replicated 4 of the 20 single nucleotide polymorphisms reported to be associated with iron status in large GWA studies of European ancestry individuals. While there is now evidence for the associations of a number of genetic variants with iron status in both European and African ancestry populations, the considerable lack of concordance highlights the importance of continued ancestry-specific studies to elucidate the genetic underpinnings of iron status in ethnically diverse populations. PMID:27332551

Africanization of a feral honey bee (Apis mellifera) population in South Texas: does a decade make a difference?

PubMed

Rangel, Juliana; Giresi, Melissa; Pinto, Maria Alice; Baum, Kristen A; Rubink, William L; Coulson, Robert N; Johnston, John Spencer

2016-04-01

The arrival to the United States of the Africanized honey bee, a hybrid between European subspecies and the African subspecies Apis mellifera scutellata, is a remarkable model for the study of biological invasions. This immigration has created an opportunity to study the dynamics of secondary contact of honey bee subspecies from African and European lineages in a feral population in South Texas. An 11-year survey of this population (1991-2001) showed that mitochondrial haplotype frequencies changed drastically over time from a resident population of eastern and western European maternal ancestry, to a population dominated by the African haplotype. A subsequent study of the nuclear genome showed that the Africanization process included bidirectional gene flow between European and Africanized honey bees, giving rise to a new panmictic mixture of A. m. scutellata- and European-derived genes. In this study, we examined gene flow patterns in the same population 23 years after the first hybridization event occurred. We found 28 active colonies inhabiting 92 tree cavities surveyed in a 5.14 km(2) area, resulting in a colony density of 5.4 colonies/km(2). Of these 28 colonies, 25 were of A. m. scutellata maternal ancestry, and three were of western European maternal ancestry. No colonies of eastern European maternal ancestry were detected, although they were present in the earlier samples. Nuclear DNA revealed little change in the introgression of A. m. scutellata-derived genes into the population compared to previous surveys. Our results suggest this feral population remains an admixed swarm with continued low levels of European ancestry and a greater presence of African-derived mitochondrial genetic composition.

The association between body composition, 25(OH)D, and PTH and bone mineral density in black African and Asian Indian population groups.

PubMed

George, Jaya A; Micklesfield, L K; Norris, S A; Crowther, N J

2014-06-01

There are few data on the contribution of body composition to bone mineral density (BMD) in non-Caucasian populations. We therefore studied the contribution of body composition, and possible confounding of 25-hydroxyvitamin D and PTH, to BMD at various skeletal sites in black African (BA) and Asian Indian (AI) subjects. This was a cross-sectional study in Johannesburg, South Africa. BMD, body fat, and lean mass were measured using dual x-ray absorptiometry and abdominal fat distribution by ultrasound in 714 healthy subjects, aged 18-65 years. Whole-body (subtotal), hip, femoral neck, and lumbar spine (lumbar) BMD were significantly higher in BA than AI subjects (P < .001 for all). Whole-body lean mass positively associated with BMD at all sites in both ethnic groups (P < .001 for all) and partially explained the higher BMD in BA females compared with AI females. Whole-body fat mass correlated positively with lumbar BMD in BA (P = .001) and inversely with subtotal BMD in AI subjects (P < .0001). Visceral adiposity correlated inversely with subtotal BMD in the BA (P = .037) and with lumbar BMD in the AI group (P = .005). No association was found between serum 25-hydroxyvitamin D and BMD. PTH was inversely associated with hip BMD in the BA group (P = .01) and with subtotal (P = .002), hip (P = .001), and femoral BMD (P < .0001) in the AI group. Significant differences in whole-body and site-specific BMD between the BA and AI groups were observed, with lean mass the major contributor to BMD at all sites in both groups. The contribution of other components of body composition differed by site and ethnic group.

The role of ancestry in TB susceptibility of an admixed South African population.

PubMed

Daya, Michelle; van der Merwe, Lize; van Helden, Paul D; Möller, Marlo; Hoal, Eileen G

2014-07-01

Genetic susceptibility to tuberculosis (TB) has been well established and this, taken together with variation in susceptibility observed between different geographic and ethnic populations, implies that susceptibility to TB may in part be affected by ethnicity. In a previous genome-wide TB case-control study (642 cases and 91 controls) of the admixed South African Coloured (SAC) population, we found a positive correlation between African San ancestry and TB susceptibility, and negative correlations with European and Asian ancestries. Since genome-wide data was available for only a small number of controls in the previous study, we endeavored to validate this finding by genotyping a panel of ancestry informative markers (AIMs) in additional individuals, yielding a data set of 918 cases and 507 controls. Ancestry proportions were estimated using the AIMs for each of the source populations of the SAC (African San, African non-San, European, South Asian and East Asian). Using logistic regression models to test for association between TB and ancestry, we confirmed the substantial effect of ancestry on TB susceptibility. We also investigated the effect of adjusting for ancestry in candidate gene TB association studies of the SAC. We report a polymorphism that is no longer significantly associated with TB after adjustment for ancestry, a polymorphism that is significantly associated with TB only after adjustment for ancestry, and a polymorphism where the association significance remains unchanged. By comparing the allele frequencies of these polymorphisms in the source populations of the SAC, we demonstrate that association results are likely to be affected by adjustment for ancestry if allele frequencies differ markedly in the source populations of the SAC. Copyright © 2014 Elsevier Ltd. All rights reserved.

Breast cancer incidence and mortality in a Caribbean population: Comparisons with African-Americans

PubMed Central

Hennis, Anselm J.; Hambleton, Ian R.; Wu, Suh-Yuh; Leske, Maria Cristina; Nemesure, Barbara

2009-01-01

We describe breast cancer incidence and mortality in the predominantly African-origin population of Barbados, which shares an ancestral origin with African-Americans. Age-standardized incidence rates were calculated from histologically confirmed breast cancer cases identified during a 45-month period (July 2002–March 2006). Mortality rates were estimated from death registrations over 10-years starting January 1995. There were 396 incident cases of breast cancer for an incidence rate of 78.1 (95% confidence interval (CI) 70.5–86.3), standardized to the US population. Breast cancer incidence in African-Americans between 2000 and 2004 was 143.7 (142.0–145.5) per 100,000. Incidence peaked at 226.6 (174.5–289.4) per 100,000 among Barbadian women aged 50–54 years, and declined thereafter, a pattern in marked contrast to trends in African-American women, whose rates continued to increase to a peak of 483.5 per 100,000 in those aged 75–79 years. Incidence rate ratios comparing Barbadian and African-American women showed no statistically significant differences among women aged ≤39 years, marginal statistical differences among women 40–54 years and strongly significant differences among women aged ≥ 55 years (p ≤ 0.001 at all older ages). The age-standardized mortality rate in Barbados was 32.9 (29.9–36.0) per 100,000; similar to reported US rates. The pattern of diverging breast cancer incidence between Barbadian and African-American women may suggest a greater contribution from genetic factors in younger women, and from environmental factors in older women. Studies in intermediate risk populations, such as Barbados, may assist the understanding of racial disparities in breast cancer. PMID:18844211

Genetic diversity and population structure of African village dogs based on microsatellite and immunity-related molecular markers.

PubMed

Vychodilova, Leona; Necesankova, Michaela; Albrechtova, Katerina; Hlavac, Jan; Modry, David; Janova, Eva; Vyskocil, Mirko; Mihalca, Andrei D; Kennedy, Lorna J; Horin, Petr

2018-01-01

The village and street dogs represent a unique model of canine populations. In the absence of selective breeding and veterinary care, they are subject mostly to natural selection. Their analyses contribute to understanding general mechanisms governing the genetic diversity, evolution and adaptation. In this study, we analyzed the genetic diversity and population structure of African village dogs living in villages in three different geographical areas in Northern Kenya. Data obtained for neutral microsatellite molecular markers were compared with those computed for potentially non-neutral markers of candidate immunity-related genes. The neutral genetic diversity was similar to other comparable village dog populations studied so far. The overall genetic diversity in microsatellites was higher than the diversity of European pure breeds, but it was similar to the range of diversity observed in a group composed of many European breeds, indicating that the African population has maintained a large proportion of the genetic diversity of the canine species as a whole. Microsatellite marker diversity indicated that the entire population is subdivided into three genetically distinct, although closely related subpopulations. This genetical partitioning corresponded to their geographical separation and the observed gene flow well correlated with the communication patterns among the three localities. In contrast to neutral microsatellites, the genetic diversity in immunity-related candidate SNP markers was similar across all three subpopulations and to the European group. It seems that the genetic structure of this particular population of Kenyan village dogs is mostly determined by geographical and anthropogenic factors influencing the gene flow between various subpopulations rather than by biological factors, such as genetic contribution of original migrating populations and/or the pathogen-mediated selection. On the other hand, the study of oldest surviving dogs suggested a

The ties that bind: genetic relatedness predicts the fission and fusion of social groups in wild African elephants.

PubMed

Archie, Elizabeth A; Moss, Cynthia J; Alberts, Susan C

2006-03-07

Many social animals live in stable groups. In contrast, African savannah elephants (Loxodonta africana) live in unusually fluid, fission-fusion societies. That is, 'core' social groups are composed of predictable sets of individuals; however, over the course of hours or days, these groups may temporarily divide and reunite, or they may fuse with other social groups to form much larger social units. Here, we test the hypothesis that genetic relatedness predicts patterns of group fission and fusion among wild, female African elephants. Our study of a single Kenyan population spans 236 individuals in 45 core social groups, genotyped at 11 microsatellite and one mitochondrial DNA (mtDNA) locus. We found that genetic relatedness predicted group fission; adult females remained with their first order maternal relatives when core groups fissioned temporarily. Relatedness also predicted temporary fusion between social groups; core groups were more likely to fuse with each other when the oldest females in each group were genetic relatives. Groups that shared mtDNA haplotypes were also significantly more likely to fuse than groups that did not share mtDNA. Our results suggest that associations between core social groups persist for decades after the original maternal kin have died. We discuss these results in the context of kin selection and its possible role in the evolution of elephant sociality.

Freezing African Elephant Semen as a New Population Management Tool

PubMed Central

Hermes, Robert; Saragusty, Joseph; Göritz, Frank; Bartels, Paul; Potier, Romain; Baker, Barbara; Streich, W. Jürgen; Hildebrandt, Thomas B.

2013-01-01

Background The captive elephant population is not self-sustaining and with a limited number of breeding bulls, its genetic diversity is in decline. One way to overcome this is to import young and healthy animals from the wild. We introduce here a more sustainable alternative method - importation of semen from wild bulls without removing them from their natural habitat. Due to the logistics involved, the only practical option would be to transport cryopreserved sperm. Despite some early reports on African elephant semen cryopreservation, the utility of this new population management tool has not been evaluated. Methodology/Principal Findings Semen was collected by electroejaculation from 14 wild African savanna elephant (Loxodonta africana) bulls and cryopreserved using the directional freezing technique. Sperm treatments evaluated included the need for centrifugation, the use of hen or quail yolk, the concentration of glycerol (3%, 5% or 7%) in the extender, and maintenance of motility over time after thawing. Our results suggest that dilution in an extender containing hen yolk and 7% glycerol after centrifugation best preserved post-thaw sperm motility when compared to all other treatments (P≤0.012 for all). Using this approach we were able to achieve after thawing (mean ± SD) 54.6±3.9% motility, 85.3±2.4% acrosome integrity, and 86.8±4.6% normal morphology with no decrease in motility over 1 h incubation at 37°C. Sperm cryopreserved during this study has already lead to a pregnancy of a captive female elephant following artificial insemination. Conclusions/Significance With working techniques for artificial insemination and sperm cryopreservation of both African and Asian elephants in hand, population managers can now enrich captive or isolated wild elephant populations without removing valuable individuals from their natural habitat. PMID:23483917

Genetic Variation in TLR Genes in Ugandan and South African Populations and Comparison with HapMap Data

PubMed Central

Randhawa, April Kaur; Horne, David J.; Adams, Mark D.; Shey, Muki; Barnholtz-Sloan, Jill; Mayanja-Kizza, Harriet; Kaplan, Gilla; Hanekom, Willem A.; Boom, W. Henry; Hawn, Thomas R.; Stein, Catherine M.

2012-01-01

Genetic epidemiological studies of complex diseases often rely on data from the International HapMap Consortium for identification of single nucleotide polymorphisms (SNPs), particularly those that tag haplotypes. However, little is known about the relevance of the African populations used to collect HapMap data for study populations conducted elsewhere in Africa. Toll-like receptor (TLR) genes play a key role in susceptibility to various infectious diseases, including tuberculosis. We conducted full-exon sequencing in samples obtained from Uganda (n = 48) and South Africa (n = 48), in four genes in the TLR pathway: TLR2, TLR4, TLR6, and TIRAP. We identified one novel TIRAP SNP (with minor allele frequency [MAF] 3.2%) and a novel TLR6 SNP (MAF 8%) in the Ugandan population, and a TLR6 SNP that is unique to the South African population (MAF 14%). These SNPs were also not present in the 1000 Genomes data. Genotype and haplotype frequencies and linkage disequilibrium patterns in Uganda and South Africa were similar to African populations in the HapMap datasets. Multidimensional scaling analysis of polymorphisms in all four genes suggested broad overlap of all of the examined African populations. Based on these data, we propose that there is enough similarity among African populations represented in the HapMap database to justify initial SNP selection for genetic epidemiological studies in Uganda and South Africa. We also discovered three novel polymorphisms that appear to be population-specific and would only be detected by sequencing efforts. PMID:23112821

Identification of a novel locus associated with skin colour in African-admixed populations

PubMed Central

Hernandez-Pacheco, Natalia; Flores, Carlos; Alonso, Santos; Eng, Celeste; Mak, Angel C. Y.; Hunstman, Scott; Hu, Donglei; White, Marquitta J.; Oh, Sam S.; Meade, Kelley; Farber, Harold J.; Avila, Pedro C.; Serebrisky, Denise; Thyne, Shannon M.; Brigino-Buenaventura, Emerita; Rodriguez-Cintron, William; Sen, Saunak; Kumar, Rajesh; Lenoir, Michael; Rodriguez-Santana, Jose R.; Burchard, Esteban G.; Pino-Yanes, Maria

2017-01-01

Skin pigmentation is a complex trait that varies largely among populations. Most genome-wide association studies of this trait have been performed in Europeans and Asians. We aimed to uncover genes influencing skin colour in African-admixed individuals. We performed a genome-wide association study of melanin levels in 285 Hispanic/Latino individuals from Puerto Rico, analyzing 14 million genetic variants. A total of 82 variants with p-value ≤1 × 10−5 were followed up in 373 African Americans. Fourteen single nucleotide polymorphisms were replicated, of which nine were associated with skin colour at genome-wide significance in a meta-analysis across the two studies. These results validated the association of two previously known skin pigmentation genes, SLC24A5 (minimum p = 2.62 × 10−14, rs1426654) and SLC45A2 (minimum p = 9.71 × 10−10, rs16891982), and revealed the intergenic region of BEND7 and PRPF18 as a novel locus associated with this trait (minimum p = 4.58 × 10−9, rs6602666). The most significant variant within this region is common among African-descent populations but not among Europeans or Native Americans. Our findings support the advantages of analyzing African-admixed populations to discover new genes influencing skin pigmentation. PMID:28300201

Genome sequence, population history, and pelage genetics of the endangered African wild dog (Lycaon pictus).

PubMed

Campana, Michael G; Parker, Lillian D; Hawkins, Melissa T R; Young, Hillary S; Helgen, Kristofer M; Szykman Gunther, Micaela; Woodroffe, Rosie; Maldonado, Jesús E; Fleischer, Robert C

2016-12-09

The African wild dog (Lycaon pictus) is an endangered African canid threatened by severe habitat fragmentation, human-wildlife conflict, and infectious disease. A highly specialized carnivore, it is distinguished by its social structure, dental morphology, absence of dewclaws, and colorful pelage. We sequenced the genomes of two individuals from populations representing two distinct ecological histories (Laikipia County, Kenya and KwaZulu-Natal Province, South Africa). We reconstructed population demographic histories for the two individuals and scanned the genomes for evidence of selection. We show that the African wild dog has undergone at least two effective population size reductions in the last 1,000,000 years. We found evidence of Lycaon individual-specific regions of low diversity, suggestive of inbreeding or population-specific selection. Further research is needed to clarify whether these population reductions and low diversity regions are characteristic of the species as a whole. We documented positive selection on the Lycaon mitochondrial genome. Finally, we identified several candidate genes (ASIP, MITF, MLPH, PMEL) that may play a role in the characteristic Lycaon pelage.

Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations

PubMed Central

Tragante, Vinicius; van Iperen, Erik P. A.; Lanktree, Matthew B.; Castillo, Berta Almoguera; Chen, Fang; Yanek, Lisa R.; Wojczynski, Mary K.; Li, Yun R.; Ferwerda, Bart; Ballantyne, Christie M.; Buxbaum, Sarah G.; Chen, Yii-Der Ida; Chen, Wei-Min; Cupples, L. Adrienne; Cushman, Mary; Duan, Yanan; Duggan, David; Evans, Michele K.; Fernandes, Jyotika K.; Fornage, Myriam; Garcia, Melissa; Garvey, W. Timothy; Glazer, Nicole; Gomez, Felicia; Harris, Tamara B.; Halder, Indrani; Howard, Virginia J.; Keller, Margaux F.; Kamboh, M. Ilyas; Kooperberg, Charles; Kritchevsky, Stephen B.; LaCroix, Andrea; Liu, Kiang; Liu, Yongmei; Musunuru, Kiran; Newman, Anne B.; Onland-Moret, N. Charlotte; Ordovas, Jose; Peter, Inga; Post, Wendy; Redline, Susan; Reis, Steven E.; Saxena, Richa; Schreiner, Pamela J.; Volcik, Kelly A.; Wang, Xingbin; Yusuf, Salim; Zonderland, Alan B.; Anand, Sonia S.; Becker, Diane M.; Psaty, Bruce; Rader, Daniel J.; Reiner, Alex P.; Rich, Stephen S.; Rotter, Jerome I.; Sale, Michèle M.; Tsai, Michael Y.; Borecki, Ingrid B.; Hegele, Robert A.; Kathiresan, Sekar; Nalls, Michael A.; Taylor, Herman A.; Hakonarson, Hakon; Sivapalaratnam, Suthesh; Asselbergs, Folkert W.; Drenos, Fotios; Wilson, James G.; Keating, Brendan J.

2012-01-01

Meta-analyses of European populations has successfully identified genetic variants in over 100 loci associated with lipid levels, but our knowledge in other ethnicities remains limited. To address this, we performed dense genotyping of ∼2,000 candidate genes in 7,657 African Americans, 1,315 Hispanics and 841 East Asians, using the IBC array, a custom ∼50,000 SNP genotyping array. Meta-analyses confirmed 16 lipid loci previously established in European populations at genome-wide significance level, and found multiple independent association signals within these lipid loci. Initial discovery and in silico follow-up in 7,000 additional African American samples, confirmed two novel loci: rs5030359 within ICAM1 is associated with total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) (p = 8.8×10−7 and p = 1.5×10−6 respectively) and a nonsense mutation rs3211938 within CD36 is associated with high-density lipoprotein cholesterol (HDL-C) levels (p = 13.5×10−12). The rs3211938-G allele, which is nearly absent in European and Asian populations, has been previously found to be associated with CD36 deficiency and shows a signature of selection in Africans and African Americans. Finally, we have evaluated the effect of SNPs established in European populations on lipid levels in multi-ethnic populations and show that most known lipid association signals span across ethnicities. However, differences between populations, especially differences in allele frequency, can be leveraged to identify novel signals, as shown by the discovery of ICAM1 and CD36 in the current report. PMID:23236364

The imprint of the Slave Trade in an African American population: mitochondrial DNA, Y chromosome and HTLV-1 analysis in the Noir Marron of French Guiana

PubMed Central

2010-01-01

Background Retracing the genetic histories of the descendant populations of the Slave Trade (16th-19th centuries) is particularly challenging due to the diversity of African ethnic groups involved and the different hybridisation processes with Europeans and Amerindians, which have blurred their original genetic inheritances. The Noir Marron in French Guiana are the direct descendants of maroons who escaped from Dutch plantations in the current day Surinam. They represent an original ethnic group with a highly blended culture. Uniparental markers (mtDNA and NRY) coupled with HTLV-1 sequences (env and LTR) were studied to establish the genetic relationships linking them to African American and African populations. Results All genetic systems presented a high conservation of the African gene pool (African ancestry: mtDNA = 99.3%; NRY = 97.6%; HTLV-1 env = 20/23; HTLV-1 LTR = 6/8). Neither founder effect nor genetic drift was detected and the genetic diversity is within a range commonly observed in Africa. Higher genetic similarities were observed with the populations inhabiting the Bight of Benin (from Ivory Coast to Benin). Other ancestries were identified but they presented an interesting sex-bias. Whilst male origins spread throughout the north of the bight (from Benin to Senegal), female origins were spread throughout the south (from the Ivory Coast to Angola). Conclusions The Noir Marron are unique in having conserved their African genetic ancestry, despite major cultural exchanges with Amerindians and Europeans through inhabiting the same region for four centuries. Their maroon identity and the important number of slaves deported in this region have maintained the original African diversity. All these characteristics permit to identify a major origin located in the former region of the Gold Coast and the Bight of Benin; regions highly impacted by slavery, from which goes a sex-biased longitudinal gradient of ancestry. PMID:20958967

The imprint of the Slave Trade in an African American population: mitochondrial DNA, Y chromosome and HTLV-1 analysis in the Noir Marron of French Guiana.

PubMed

Brucato, Nicolas; Cassar, Olivier; Tonasso, Laure; Tortevoye, Patricia; Migot-Nabias, Florence; Plancoulaine, Sabine; Guitard, Evelyne; Larrouy, Georges; Gessain, Antoine; Dugoujon, Jean-Michel

2010-10-19

Retracing the genetic histories of the descendant populations of the Slave Trade (16th-19th centuries) is particularly challenging due to the diversity of African ethnic groups involved and the different hybridisation processes with Europeans and Amerindians, which have blurred their original genetic inheritances. The Noir Marron in French Guiana are the direct descendants of maroons who escaped from Dutch plantations in the current day Surinam. They represent an original ethnic group with a highly blended culture. Uniparental markers (mtDNA and NRY) coupled with HTLV-1 sequences (env and LTR) were studied to establish the genetic relationships linking them to African American and African populations. All genetic systems presented a high conservation of the African gene pool (African ancestry: mtDNA = 99.3%; NRY = 97.6%; HTLV-1 env = 20/23; HTLV-1 LTR = 6/8). Neither founder effect nor genetic drift was detected and the genetic diversity is within a range commonly observed in Africa. Higher genetic similarities were observed with the populations inhabiting the Bight of Benin (from Ivory Coast to Benin). Other ancestries were identified but they presented an interesting sex-bias. Whilst male origins spread throughout the north of the bight (from Benin to Senegal), female origins were spread throughout the south (from the Ivory Coast to Angola). The Noir Marron are unique in having conserved their African genetic ancestry, despite major cultural exchanges with Amerindians and Europeans through inhabiting the same region for four centuries. Their maroon identity and the important number of slaves deported in this region have maintained the original African diversity. All these characteristics permit to identify a major origin located in the former region of the Gold Coast and the Bight of Benin; regions highly impacted by slavery, from which goes a sex-biased longitudinal gradient of ancestry.

Religiosity and Risky Sexual Behaviors among an African American Church-based Population

PubMed Central

Hawes, Starlyn M.; Berkley-Patton, Jannette Y.

2014-01-01

African Americans are disproportionately burdened by STDs and HIV in the US. This study examined the relationships between demographics, religiosity, and sexual risk behaviors among 255 adult African American church-based participants. Although participants were highly religious, they reported an average of seven lifetime sex partners and most inconsistently used condoms. Several demographic variables and religiosity significantly predicted lifetime HIV-related risk factors. Taken together, findings indicated that this population is at risk for HIV. Future research should continue to identify correlates of risky sexual behavior among African American parishioners to facilitate the development of HIV risk reduction interventions in their church settings. PMID:23054481

Overcoming Workplace Barriers: A Focus Group Study Exploring African American Mothers' Needs for Workplace Breastfeeding Support.

PubMed

Johnson, Angela Marie; Kirk, Rosalind; Muzik, Maria

2015-08-01

Persistent racial disparities in breastfeeding show that African American women breastfeed at the lowest rates. Return to work is a critical breastfeeding barrier for African American women who return to work sooner than other ethnic groups and more often encounter unsupportive work environments. They also face psychosocial burdens that make breastfeeding at work uniquely challenging. Participants share personal struggles with combining paid employment and breastfeeding and suggest workplace and personal support strategies that they believe will help continue breastfeeding after a return to work. To explore current perspectives on ways to support African American mothers' workplace breastfeeding behavior. Pregnant African American women (n = 8), African American mothers of infants (n = 21), and lactation support providers (n = 9) participated in 1 of 6 focus groups in the Greater Detroit area. Each focus group audiotape was transcribed verbatim. Thematic analysis was used to inductively analyze focus group transcripts and field notes. Focus groups explored thoughts, perceptions, and behavior on interventions to support African American women's breastfeeding. Participants indicate that they generally believed breastfeeding was a healthy option for the baby; however, paid employment is a critical barrier to successful breastfeeding for which mothers receive little help. Participants felt breastfeeding interventions that support working African American mothers should include education and training for health care professionals, regulation and enforcement of workplace breastfeeding support policies, and support from peers who act as breastfeeding role models. Culturally appropriate interventions are needed to support breastfeeding among working African American women. © The Author(s) 2015.

Overcoming Workplace Barriers: A Focus Group Study Exploring African American Mothers' Needs for Workplace Breastfeeding Support

PubMed Central

Johnson, Angela Marie; Kirk, Rosalind; Muzik, Maria

2015-01-01

Background Persistent racial disparities in breastfeeding show that African American women breastfeed at the lowest rates. Return to work is a critical breastfeeding barrier for African American women who return to work sooner than other ethnic groups and more often encounter unsupportive work environments. They also face psychosocial burdens that make breastfeeding at work uniquely challenging. Participants share personal struggles with combining paid employment and breastfeeding and suggest workplace and personal support strategies that they believe will help continue breastfeeding after a return to work. Objective To explore current perspectives on ways to support African American mothers' workplace breastfeeding behavior. Methods Pregnant African American women (n = 8), African American mothers of infants (n = 21), and lactation support providers (n = 9) participated in 1 of 6 focus groups in the Greater Detroit area. Each focus group audiotape was transcribed verbatim. Thematic analysis was used to inductively analyze focus group transcripts and field notes. Focus groups explored thoughts, perceptions, and behavior on interventions to support African American women's breastfeeding. Results Participants indicate that they generally believed breastfeeding was a healthy option for the baby; however, paid employment is a critical barrier to successful breastfeeding for which mothers receive little help. Participants felt breastfeeding interventions that support working African American mothers should include education and training for health care professionals, regulation and enforcement of workplace breastfeeding support policies, and support from peers who act as breastfeeding role models. Conclusion Culturally appropriate interventions are needed to support breastfeeding among working African American women. PMID:25714345

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes

PubMed Central

Baine, Fiona K; Kay, Chris; Ketelaar, Maria E; Collins, Jennifer A; Semaka, Alicia; Doty, Crystal N; Krause, Amanda; Jacquie Greenberg, L; Hayden, Michael R

2013-01-01

Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide prevalence varies geographically with the highest figures reported in populations of European ancestry. HD in South Africa has been reported in Caucasian, black and mixed subpopulations, with similar estimated prevalence in the Caucasian and mixed groups and a lower estimate in the black subpopulation. Recent studies have associated specific HTT haplotypes with HD in distinct populations. Expanded HD alleles in Europe occur predominantly on haplogroup A (specifically high-risk variants A1/A2), whereas in East Asian populations, HD alleles are associated with haplogroup C. Whether specific HTT haplotypes associate with HD in black Africans and how these compare with haplotypes found in European and East Asian populations remains unknown. The current study genotyped the HTT region in unaffected individuals and HD patients from each of the South African subpopulations, and haplotypes were constructed. CAG repeat sizes were determined and phased to haplotype. Results indicate that HD alleles from Caucasian and mixed patients are predominantly associated with haplogroup A, signifying a similar European origin for HD. However, in black patients, HD occurs predominantly on haplogroup B, suggesting several distinct origins of the mutation in South Africa. The absence of high-risk variants (A1/A2) in the black subpopulation may also explain the reported low prevalence of HD. Identification of haplotypes associated with HD-expanded alleles is particularly relevant to the development of population-specific therapeutic targets for selective suppression of the expanded HTT transcript. PMID:23463025

Genetic homogeneity across Bantu-speaking groups from Mozambique and Angola challenges early split scenarios between East and West Bantu populations.

PubMed

Alves, Isabel; Coelho, Margarida; Gignoux, Christopher; Damasceno, Albertino; Prista, Antonio; Rocha, Jorge

2011-02-01

The large scale spread of Bantu-speaking populations remains one of the most debated questions in African population history. In this work we studied the genetic structure of 19 Bantu-speaking groups from Mozambique and Angola using a multilocus approach based on 14 newly developed compound haplotype systems (UEPSTRs), each consisting of a rapidly evolving short tandem repeat (STR) closely linked to a unique event polymorphism (UEP). We compared the ability of UEPs, STRs and UEPSTRs to document genetic variation at the intercontinental level and among the African Bantu populations, and found that UEPSTR systems clearly provided more resolution than UEPs or STRs alone. The observed patterns of genetic variation revealed high levels of genetic homogeneity between major populations from Angola and Mozambique, with two main outliers: the Kuvale from Angola and the Chopi from Mozambique. Within Mozambique, two Kaskazi-speaking populations from the far north (Yao and Mwani) and two Nyasa-speaking groups from the Zambezi River basin (Nyungwe and Sena) could be differentiated from the remaining groups, but no further population structure was observed across the country. The close genetic relationship between most sampled Bantu populations is consistent with high degrees of interaction between peoples living in savanna areas located to the south of the rainforest. Our results highlight the role of gene flow during the Bantu expansions and show that the genetic evidence accumulated so far is becoming increasingly difficult to reconcile with widely accepted models postulating an early split between eastern and western Bantu populations.

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

PubMed

Hardelid, P; Cortina-Borja, M; Munro, A; Jones, H; Cleary, M; Champion, M P; Foo, Y; Scriver, C R; Dezateux, C

2008-01-01

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (OMIM 261600). Treatment with a low-phenylalanine diet following early ascertainment by newborn screening prevents impaired cognitive development, the major disease phenotype in PKU. The overall birth prevalence of PKU in European, Chinese and Korean populations is approximately 1/10,000. Since the human PAH locus contains PKU-causing alleles and polymorphic core haplotypes that describe and corroborate an out-of-Africa range expansion in modern human populations, it is of interest to know the prevalence of PKU in different ethnic groups with diverse geographical origin. We estimated PKU prevalence in South East England, where a sizeable proportion of the population are of Sub-Saharan African or South Asian ancestry. Over the period 1994 to 2004 167 children were diagnosed with PKU. Using birth registration and census data to derive denominators, PKU birth prevalence per 10,000 live births (95% Bayesian credible intervals) was estimated to be 1.14 (0.96-1.33) among white, 0.11 (0.02-0.37) among black, and 0.29 (0.10-0.63) among Asian ethnic groups. This suggests that PKU is up to an order of magnitude less prevalent in populations with Sub-Saharan African and South Asian ancestry that have migrated to the UK.

Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations

PubMed Central

Franceschini, Nora; Fox, Ervin; Zhang, Zhaogong; Edwards, Todd L.; Nalls, Michael A.; Sung, Yun Ju; Tayo, Bamidele O.; Sun, Yan V.; Gottesman, Omri; Adeyemo, Adebawole; Johnson, Andrew D.; Young, J. Hunter; Rice, Ken; Duan, Qing; Chen, Fang; Li, Yun; Tang, Hua; Fornage, Myriam; Keene, Keith L.; Andrews, Jeanette S.; Smith, Jennifer A.; Faul, Jessica D.; Guangfa, Zhang; Guo, Wei; Liu, Yu; Murray, Sarah S.; Musani, Solomon K.; Srinivasan, Sathanur; Velez Edwards, Digna R.; Wang, Heming; Becker, Lewis C.; Bovet, Pascal; Bochud, Murielle; Broeckel, Ulrich; Burnier, Michel; Carty, Cara; Chasman, Daniel I.; Ehret, Georg; Chen, Wei-Min; Chen, Guanjie; Chen, Wei; Ding, Jingzhong; Dreisbach, Albert W.; Evans, Michele K.; Guo, Xiuqing; Garcia, Melissa E.; Jensen, Rich; Keller, Margaux F.; Lettre, Guillaume; Lotay, Vaneet; Martin, Lisa W.; Moore, Jason H.; Morrison, Alanna C.; Mosley, Thomas H.; Ogunniyi, Adesola; Palmas, Walter; Papanicolaou, George; Penman, Alan; Polak, Joseph F.; Ridker, Paul M.; Salako, Babatunde; Singleton, Andrew B.; Shriner, Daniel; Taylor, Kent D.; Vasan, Ramachandran; Wiggins, Kerri; Williams, Scott M.; Yanek, Lisa R.; Zhao, Wei; Zonderman, Alan B.; Becker, Diane M.; Berenson, Gerald; Boerwinkle, Eric; Bottinger, Erwin; Cushman, Mary; Eaton, Charles; Nyberg, Fredrik; Heiss, Gerardo; Hirschhron, Joel N.; Howard, Virginia J.; Karczewsk, Konrad J.; Lanktree, Matthew B.; Liu, Kiang; Liu, Yongmei; Loos, Ruth; Margolis, Karen; Snyder, Michael; Go, Min Jin; Kim, Young Jin; Lee, Jong-Young; Jeon, Jae-Pil; Kim, Sung Soo; Han, Bok-Ghee; Cho, Yoon Shin; Sim, Xueling; Tay, Wan Ting; Ong, Rick Twee Hee; Seielstad, Mark; Liu, Jian Jun; Aung, Tin; Wong, Tien Yin; Teo, Yik Ying; Tai, E. Shyong; Chen, Chien-Hsiun; Chang, Li-ching; Chen, Yuan-Tsong; Wu, Jer-Yuarn; Kelly, Tanika N.; Gu, Dongfeng; Hixson, James E.; Sung, Yun Ju; He, Jiang; Tabara, Yasuharu; Kokubo, Yoshihiro; Miki, Tetsuro; Iwai, Naoharu; Kato, Norihiro; Takeuchi, Fumihiko; Katsuya, Tomohiro; Nabika, Toru; Sugiyama, Takao; Zhang, Yi; Huang, Wei; Zhang, Xuegong; Zhou, Xueya; Jin, Li; Zhu, Dingliang; Psaty, Bruce M.; Schork, Nicholas J.; Weir, David R.; Rotimi, Charles N.; Sale, Michele M.; Harris, Tamara; Kardia, Sharon L.R.; Hunt, Steven C.; Arnett, Donna; Redline, Susan; Cooper, Richard S.; Risch, Neil J.; Rao, D.C.; Rotter, Jerome I.; Chakravarti, Aravinda; Reiner, Alex P.; Levy, Daniel; Keating, Brendan J.; Zhu, Xiaofeng

2013-01-01

High blood pressure (BP) is more prevalent and contributes to more severe manifestations of cardiovascular disease (CVD) in African Americans than in any other United States ethnic group. Several small African-ancestry (AA) BP genome-wide association studies (GWASs) have been published, but their findings have failed to replicate to date. We report on a large AA BP GWAS meta-analysis that includes 29,378 individuals from 19 discovery cohorts and subsequent replication in additional samples of AA (n = 10,386), European ancestry (EA) (n = 69,395), and East Asian ancestry (n = 19,601). Five loci (EVX1-HOXA, ULK4, RSPO3, PLEKHG1, and SOX6) reached genome-wide significance (p < 1.0 × 10−8) for either systolic or diastolic BP in a transethnic meta-analysis after correction for multiple testing. Three of these BP loci (EVX1-HOXA, RSPO3, and PLEKHG1) lack previous associations with BP. We also identified one independent signal in a known BP locus (SOX6) and provide evidence for fine mapping in four additional validated BP loci. We also demonstrate that validated EA BP GWAS loci, considered jointly, show significant effects in AA samples. Consequently, these findings suggest that BP loci might have universal effects across studied populations, demonstrating that multiethnic samples are an essential component in identifying, fine mapping, and understanding their trait variability. PMID:23972371

Social-group identity and population substructure in admixed populations in New Mexico and Latin America

PubMed Central

Healy, Meghan E.; Hill, Deirdre; Berwick, Marianne; Edgar, Heather; Gross, Jessica

2017-01-01

We examined the relationship between continental-level genetic ancestry and racial and ethnic identity in an admixed population in New Mexico with the goal of increasing our understanding of how racial and ethnic identity influence genetic substructure in admixed populations. Our sample consists of 98 New Mexicans who self-identified as Hispanic or Latino (NM-HL) and who further categorized themselves by race and ethnic subgroup membership. The genetic data consist of 270 newly-published autosomal microsatellites from the NM-HL sample and previously published data from 57 globally distributed populations, including 13 admixed samples from Central and South America. For these data, we 1) summarized the major axes of genetic variation using principal component analyses, 2) performed tests of Hardy Weinberg equilibrium, 3) compared empirical genetic ancestry distributions to those predicted under a model of admixture that lacked substructure, 4) tested the hypotheses that individuals in each sample had 100%, 0%, and the sample-mean percentage of African, European, and Native American ancestry. We found that most NM-HL identify themselves and their parents as belonging to one of two groups, conforming to a region-specific narrative that distinguishes recent immigrants from Mexico from individuals whose families have resided in New Mexico for generations and who emphasize their Spanish heritage. The “Spanish” group had significantly lower Native American ancestry and higher European ancestry than the “Mexican” group. Positive FIS values, PCA plots, and heterogeneous ancestry distributions suggest that most Central and South America admixed samples also contain substructure, and that this substructure may be related to variation in social identity. Genetic substructure appears to be common in admixed populations in the Americas and may confound attempts to identify disease-causing genes and to understand the social causes of variation in health outcomes and

Social-group identity and population substructure in admixed populations in New Mexico and Latin America.

PubMed

Healy, Meghan E; Hill, Deirdre; Berwick, Marianne; Edgar, Heather; Gross, Jessica; Hunley, Keith

2017-01-01

We examined the relationship between continental-level genetic ancestry and racial and ethnic identity in an admixed population in New Mexico with the goal of increasing our understanding of how racial and ethnic identity influence genetic substructure in admixed populations. Our sample consists of 98 New Mexicans who self-identified as Hispanic or Latino (NM-HL) and who further categorized themselves by race and ethnic subgroup membership. The genetic data consist of 270 newly-published autosomal microsatellites from the NM-HL sample and previously published data from 57 globally distributed populations, including 13 admixed samples from Central and South America. For these data, we 1) summarized the major axes of genetic variation using principal component analyses, 2) performed tests of Hardy Weinberg equilibrium, 3) compared empirical genetic ancestry distributions to those predicted under a model of admixture that lacked substructure, 4) tested the hypotheses that individuals in each sample had 100%, 0%, and the sample-mean percentage of African, European, and Native American ancestry. We found that most NM-HL identify themselves and their parents as belonging to one of two groups, conforming to a region-specific narrative that distinguishes recent immigrants from Mexico from individuals whose families have resided in New Mexico for generations and who emphasize their Spanish heritage. The "Spanish" group had significantly lower Native American ancestry and higher European ancestry than the "Mexican" group. Positive FIS values, PCA plots, and heterogeneous ancestry distributions suggest that most Central and South America admixed samples also contain substructure, and that this substructure may be related to variation in social identity. Genetic substructure appears to be common in admixed populations in the Americas and may confound attempts to identify disease-causing genes and to understand the social causes of variation in health outcomes and social

Cultural in-group advantage: emotion recognition in African American and European American faces and voices.

PubMed

Wickline, Virginia B; Bailey, Wendy; Nowicki, Stephen

2009-03-01

The authors explored whether there were in-group advantages in emotion recognition of faces and voices by culture or geographic region. Participants were 72 African American students (33 men, 39 women), 102 European American students (30 men, 72 women), 30 African international students (16 men, 14 women), and 30 European international students (15 men, 15 women). The participants determined emotions in African American and European American faces and voices. Results showed an in-group advantage-sometimes by culture, less often by race-in recognizing facial and vocal emotional expressions. African international students were generally less accurate at interpreting American nonverbal stimuli than were European American, African American, and European international peers. Results suggest that, although partly universal, emotional expressions have subtle differences across cultures that persons must learn.

The History of African Gene Flow into Southern Europeans, Levantines, and Jews

PubMed Central

Moorjani, Priya; Patterson, Nick; Hirschhorn, Joel N.; Keinan, Alon; Hao, Li; Atzmon, Gil; Burns, Edward; Ostrer, Harry; Price, Alkes L.; Reich, David

2011-01-01

Previous genetic studies have suggested a history of sub-Saharan African gene flow into some West Eurasian populations after the initial dispersal out of Africa that occurred at least 45,000 years ago. However, there has been no accurate characterization of the proportion of mixture, or of its date. We analyze genome-wide polymorphism data from about 40 West Eurasian groups to show that almost all Southern Europeans have inherited 1%–3% African ancestry with an average mixture date of around 55 generations ago, consistent with North African gene flow at the end of the Roman Empire and subsequent Arab migrations. Levantine groups harbor 4%–15% African ancestry with an average mixture date of about 32 generations ago, consistent with close political, economic, and cultural links with Egypt in the late middle ages. We also detect 3%–5% sub-Saharan African ancestry in all eight of the diverse Jewish populations that we analyzed. For the Jewish admixture, we obtain an average estimated date of about 72 generations. This may reflect descent of these groups from a common ancestral population that already had some African ancestry prior to the Jewish Diasporas. PMID:21533020

The history of African gene flow into Southern Europeans, Levantines, and Jews.

PubMed

Moorjani, Priya; Patterson, Nick; Hirschhorn, Joel N; Keinan, Alon; Hao, Li; Atzmon, Gil; Burns, Edward; Ostrer, Harry; Price, Alkes L; Reich, David

2011-04-01

Previous genetic studies have suggested a history of sub-Saharan African gene flow into some West Eurasian populations after the initial dispersal out of Africa that occurred at least 45,000 years ago. However, there has been no accurate characterization of the proportion of mixture, or of its date. We analyze genome-wide polymorphism data from about 40 West Eurasian groups to show that almost all Southern Europeans have inherited 1%-3% African ancestry with an average mixture date of around 55 generations ago, consistent with North African gene flow at the end of the Roman Empire and subsequent Arab migrations. Levantine groups harbor 4%-15% African ancestry with an average mixture date of about 32 generations ago, consistent with close political, economic, and cultural links with Egypt in the late middle ages. We also detect 3%-5% sub-Saharan African ancestry in all eight of the diverse Jewish populations that we analyzed. For the Jewish admixture, we obtain an average estimated date of about 72 generations. This may reflect descent of these groups from a common ancestral population that already had some African ancestry prior to the Jewish Diasporas.

Gene-Centric Analysis of Serum Cotinine Levels in African and European American Populations

PubMed Central

Hamidovic, Ajna; Goodloe, Robert J; Bergen, Andrew W; Benowitz, Neal L; Styn, Mindi A; Kasberger, Jay L; Choquet, Helene; Young, Taylor R; Meng, Yan; Palmer, Cameron; Pletcher, Mark; Kertesz, Stefan; Hitsman, Brian; Spring, Bonnie; Jorgenson, Eric

2012-01-01

To date, most genetic association studies of tobacco use have been conducted in European American subjects using the phenotype of smoking quantity (cigarettes per day). However, smoking quantity is a very imprecise measure of exposure to tobacco smoke constituents. Analyses of alternate phenotypes and populations may improve our understanding of tobacco addiction genetics. Cotinine is the major metabolite of nicotine, and measuring serum cotinine levels in smokers provides a more objective measure of nicotine dose than smoking quantity. Previous genetic association studies of serum cotinine have focused on individual genes. We conducted a genetic association study of the biomarker in African American (N=365) and European American (N=315) subjects from the Coronary Artery Risk Development in Young Adults study using a chip containing densely-spaced tag SNPs in ∼2100 genes. We found that rs11187065, located in the non-coding region (intron 1) of insulin-degrading enzyme (IDE), was the most strongly associated SNP (p=8.91 × 10−6) in the African American cohort, whereas rs11763963, located on chromosome 7 outside of a gene transcript, was the most strongly associated SNP in European Americans (p=1.53 × 10−6). We then evaluated how the top variant association in each population performed in the other group. We found that the association of rs11187065 in IDE was also associated with the phenotype in European Americans (p=0.044). Our top SNP association in European Americans, rs11763963 was non-polymorphic in our African American sample. It has been previously shown that psychostimulant self-administration is reduced in animals with lower insulin because of interference with dopamine transmission in the brain reward centers. Our finding provides a platform for further investigation of this, or additional mechanisms, involving the relationship between insulin and self-administered nicotine dose. PMID:22089314

Increased genetic diversity of ADME genes in African Americans compared with their putative ancestral source populations and implications for Pharmacogenomics

PubMed Central

2014-01-01

Background African Americans have been treated as a representative population for African ancestry for many purposes, including pharmacogenomic studies. However, the contribution of European ancestry is expected to result in considerable differences in the genetic architecture of African American individuals compared with an African genome. In particular, the genetic admixture influences the genomic diversity of drug metabolism-related genes, and may cause high heterogeneity of drug responses in admixed populations such as African Americans. Results The genomic ancestry information of African-American (ASW) samples was obtained from data of the 1000 Genomes Project, and local ancestral components were also extracted for 32 core genes and 252 extended genes, which are associated with drug absorption, distribution, metabolism, and excretion (ADME) genes. As expected, the global genetic diversity pattern in ASW was determined by the contributions of its putative ancestral source populations, and the whole profiles of ADME genes in ASW are much closer to those in YRI than in CEU. However, we observed much higher diversity in some functionally important ADME genes in ASW than either CEU or YRI, which could be a result of either genetic drift or natural selection, and we identified some signatures of the latter. We analyzed the clinically relevant polymorphic alleles and haplotypes, and found that 28 functional mutations (including 3 missense, 3 splice, and 22 regulator sites) exhibited significantly higher differentiation between the three populations. Conclusions Analysis of the genetic diversity of ADME genes showed differentiation between admixed population and its ancestral source populations. In particular, the different genetic diversity between ASW and YRI indicated that the ethnic differences in pharmacogenomic studies are broadly existed despite that African ancestry is dominant in Africans Americans. This study should advance our understanding of the genetic

Estimation of true height: a study in population-specific methods among young South African adults.

PubMed

Lahner, Christen Renée; Kassier, Susanna Maria; Veldman, Frederick Johannes

2017-02-01

To investigate the accuracy of arm-associated height estimation methods in the calculation of true height compared with stretch stature in a sample of young South African adults. A cross-sectional descriptive design was employed. Pietermaritzburg, Westville and Durban, KwaZulu-Natal, South Africa, 2015. Convenience sample (N 900) aged 18-24 years, which included an equal number of participants from both genders (150 per gender) stratified across race (Caucasian, Black African and Indian). Continuous variables that were investigated included: (i) stretch stature; (ii) total armspan; (iii) half-armspan; (iv) half-armspan ×2; (v) demi-span; (vi) demi-span gender-specific equation; (vii) WHO equation; and (viii) WHO-adjusted equations; as well as categorization according to gender and race. Statistical analysis was conducted using IBM SPSS Statistics Version 21.0. Significant correlations were identified between gender and height estimation measurements, with males being anatomically larger than females (P<0·001). Significant differences were documented when study participants were stratified according to race and gender (P<0·001). Anatomical similarities were noted between Indians and Black Africans, whereas Caucasians were anatomically different from the other race groups. Arm-associated height estimation methods were able to estimate true height; however, each method was specific to each gender and race group. Height can be calculated by using arm-associated measurements. Although universal equations for estimating true height exist, for the enhancement of accuracy, the use of equations that are race-, gender- and population-specific should be considered.

The cholinesterase variants found in some African tribes living in Rhodesia.

PubMed

Whittaker, M; Lowe, R F

1976-01-01

Blood samples from 1,614 Africans living in Rhodesia have been phenotyped for the cholinesterase variants at the E1 and E2 loci. 24% of the African population were non-Rhodesian by birth. 1,227 Rhodesians aligned themselves to 20 tribes, 191 Malawians to 8 tribes. 162 Mozambique Africans to 9 tribes and 34 Zambians to 8 tribes. A high frequency of 0.036 for the Ef1 gene, which varies from tribe to tribe, has been found in Rhodesian and Malawian Africans. Similar high frequencies for this gene are recorded for Zambian (0.045) and Mozambique Africans (0.034). The frequencies of the Es1 gene in these groups are 0.013 (Rhodesian), 0.009 (Malawian), and 0.016 (Mozambique African). The small Zambian sample showed evidence for neither the Es1 nor the C5+ electrophoretic variant. The absence of the Ea1 gene in the 1,613 Africans provides additional evidence of the rarity of this gene in negroid populations. The frequency of the C5+ variant in Rhodesian, Malawian and Mozambique Africans, although varying from tribe to tribe within the range of 0-8%, averages 3% in each group. These represent low frequencies for this variant when compared to other populations. No rare or 'private' electrophoretic variant has been found.

A comparison of nephron number, glomerular volume and kidney weight in Senegalese Africans and African Americans

PubMed Central

McNamara, Bridgette J.; Diouf, Boucar; Douglas-Denton, Rebecca N.; Hughson, Michael D.; Hoy, Wendy E.; Bertram, John F.

2010-01-01

Background. Low nephron number is determined in utero and is a proposed risk for essential hypertension. Glomerular volume is inversely correlated with nephron number, and genetic and environmental factors that determine nephron number are thought to determine glomerular volume. This study compared total glomerular (nephron) number (Nglom), mean glomerular volume (Vglom) and kidney weight in two geographically separated black populations with significant common genetic ancestry. Methods. Unbiased stereology was used to determine Nglom and Vglom in kidneys collected at coronial autopsy in an age- and sex-matched sample of 39 adult Africans from Dakar in Senegal, West Africa and 39 African Americans from Mississippi in the USA. Results. African Americans were taller and heavier than their Senegalese counterparts. Nglom was remarkably similar—with a geometric mean of 937 967 in Senegalese and 904 412 in African Americans (P = 0.62). Vglom was correlated inversely with Nglom and directly with body surface area in both groups, but Vglom was 54% greater in African Americans than in Senegalese Africans [8.30 ± 2.92 (SD) and 5.38 ± 1.25  μm3 × 106, respectively] and remained significantly larger (38%) after adjustment for body size. Vglom increased with age in African Americans, but not in the Senegalese. Kidney weight was larger in African Americans (P < 0.0001), but kidney-to-body weight ratio was not different between groups. Conclusions. Despite similar nephron numbers, a common genetic constitution, and even in relation to current body size, African Americans have larger Vglom than Senegalese subjects. This may mark exposure to environmental stressors or hereditary traits concentrated in the population's relocation to North America. PMID:20154008

A comparison of nephron number, glomerular volume and kidney weight in Senegalese Africans and African Americans.

PubMed

McNamara, Bridgette J; Diouf, Boucar; Douglas-Denton, Rebecca N; Hughson, Michael D; Hoy, Wendy E; Bertram, John F

2010-05-01

Low nephron number is determined in utero and is a proposed risk for essential hypertension. Glomerular volume is inversely correlated with nephron number, and genetic and environmental factors that determine nephron number are thought to determine glomerular volume. This study compared total glomerular (nephron) number (N(glom)), mean glomerular volume (V(glom)) and kidney weight in two geographically separated black populations with significant common genetic ancestry. Unbiased stereology was used to determine N(glom) and V(glom) in kidneys collected at coronial autopsy in an age- and sex-matched sample of 39 adult Africans from Dakar in Senegal, West Africa and 39 African Americans from Mississippi in the USA. African Americans were taller and heavier than their Senegalese counterparts. N(glom) was remarkably similar-with a geometric mean of 937 967 in Senegalese and 904 412 in African Americans (P = 0.62). V(glom) was correlated inversely with N(glom) and directly with body surface area in both groups, but V(glom) was 54% greater in African Americans than in Senegalese Africans [8.30 +/- 2.92 (SD) and 5.38 +/- 1.25 microm(3) x 10(6), respectively] and remained significantly larger (38%) after adjustment for body size. V(glom) increased with age in African Americans, but not in the Senegalese. Kidney weight was larger in African Americans (P < 0.0001), but kidney-to-body weight ratio was not different between groups. Despite similar nephron numbers, a common genetic constitution, and even in relation to current body size, African Americans have larger V(glom) than Senegalese subjects. This may mark exposure to environmental stressors or hereditary traits concentrated in the population's relocation to North America.

Effects of Methyl Eugenol Feeding on Mating Compatibility of Asian Population of Bactrocera dorsalis (Diptera: Tephritidae) with African Population and with B. carambolae

PubMed Central

Haq, Ihsan ul; Vreysen, Marc J. B.; Schutze, Mark; Hendrichs, Jorge; Shelly, Todd

2016-01-01

Males of some species included in the Bactrocera dorsalis complex are strongly attracted to methyl eugenol (ME) (1,2-dimethoxy-4-(2-propenyl) benzene), a natural compound occurring in a variety of plant species. ME feeding of males of the B. dorsalis complex is known to enhance their mating competitiveness. Within B. dorsalis, recent studies show that Asian and African populations of B. dorsalis are sexually compatible, while populations of B. dorsalis and Bactrocera carambolae are relatively incompatible. The objectives of this study were to examine whether ME feeding by males affects mating compatibility between Asian and African populations of B. dorsalis and ME feeding reduces male mating incompatibility between B. dorsalis (Asian population) and B. carambolae. The data confirmed that Asian and African populations of B. dorsalis are sexually compatible for mating and showed that ME feeding only increased the number of matings. Though ME feeding also increased the number of matings of B. dorsalis (Asian population) and B. carambolae males but the sexual incompatibility between both species was not reduced by treatment with ME. These results conform to the efforts resolving the biological species limits among B. dorsalis complex and have implications for fruit fly control programs in fields and horticultural trade. PMID:26362991

The TG/HDL-C ratio does not predict insulin resistance in overweight women of African descent: a study of South African, African American and West African women.

PubMed

Knight, Michael G; Goedecke, Julia H; Ricks, Madia; Evans, Juliet; Levitt, Naomi S; Tulloch-Reid, Marshall K; Sumner, Anne E

2011-01-01

Women of African descent have a high prevalence of diseases caused by insulin resistance. To positively impact cardiometabolic health in Black women, effective screening tests for insulin resistance must be identified. Recently, the TG/HDL-C ratio has been recommended as a tool to predict insulin resistance in overweight people. While the ratio predicts insulin resistance in White women, it is ineffective in African American women. As there are no data for African women, we tested the ability of the TG/HDL-C ratio to predict insulin resistance in Black women from South Africa, West Africa and the United States. For comparison, the ratio was also tested in White women from South Africa. Participants were 801 women (157 Black South African, 382 African American, 119 West African, 143 White South African, age 36 +/- 9y [mean +/- SD]). Standardized scores were created from log-transformed homeostasis model assessment-insulin resistance values from each population. Participants in the upper third of their population distribution were classified as insulin-resistant. To predict insulin resistance by the TC/HDL-C ratio, area under the receiver operating characteristic (AUC-ROC) curve was used and criteria were: 0.50 for no discrimination and > or = 0.70 for acceptable. Seventy-one percent of the Black women were overweight vs 51% of White women (P<.01). In overweight White women, AUC-ROC curve for prediction of insulin resistance by TG/HDL-C was 0.76 +/- 0.06, but below the 0.70 threshold in each group of overweight Black women (Black South African: 0.64 +/- 0.06, African American: 0.66 +/- 0.03, and West African: 0.63 +/- 0.07). Therefore, TG/HDL-C does not predict insulin resistance in overweight African American women and this investigation extends that finding to overweight Black South African and West African women. Resources to identify effective markers of insulin resistance are needed to improve cardiometabolic health in women of African descent.

Intellectual Disability in the Context of a South African Population

ERIC Educational Resources Information Center

Kromberg, Jennifer; Zwane, Esther; Manga, Prashiela; Venter, Andre; Rosen, Eric; Christianson, Arnold

2008-01-01

Childhood disabilities, including intellectual disabilities (ID), are thought to occur in 5-17% of children in developing countries around the world. In order to identify and describe the childhood disabilities occurring in a rural South African population, as well as the context in which they occur, a study was carried out in the Bushbuckridge…

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome

PubMed Central

Johnston, Henry Richard; Hu, Yi-Juan; Gao, Jingjing; O’Connor, Timothy D.; Abecasis, Gonçalo R.; Wojcik, Genevieve L; Gignoux, Christopher R.; Gourraud, Pierre-Antoine; Lizee, Antoine; Hansen, Mark; Genuario, Rob; Bullis, Dave; Lawley, Cindy; Kenny, Eimear E.; Bustamante, Carlos; Beaty, Terri H.; Mathias, Rasika A.; Barnes, Kathleen C.; Qin, Zhaohui S.; Preethi Boorgula, Meher; Campbell, Monica; Chavan, Sameer; Ford, Jean G.; Foster, Cassandra; Gao, Li; Hansel, Nadia N.; Horowitz, Edward; Huang, Lili; Ortiz, Romina; Potee, Joseph; Rafaels, Nicholas; Ruczinski, Ingo; Scott, Alan F.; Taub, Margaret A.; Vergara, Candelaria; Levin, Albert M.; Padhukasahasram, Badri; Williams, L. Keoki; Dunston, Georgia M.; Faruque, Mezbah U.; Gietzen, Kimberly; Deshpande, Aniket; Grus, Wendy E.; Locke, Devin P.; Foreman, Marilyn G.; Avila, Pedro C.; Grammer, Leslie; Kim, Kwang-Youn A.; Kumar, Rajesh; Schleimer, Robert; De La Vega, Francisco M.; Shringarpure, Suyash S.; Musharoff, Shaila; Burchard, Esteban G.; Eng, Celeste; Hernandez, Ryan D.; Pino-Yanes, Maria; Torgerson, Dara G.; Szpiech, Zachary A.; Torres, Raul; Nicolae, Dan L.; Ober, Carole; Olopade, Christopher O; Olopade, Olufunmilayo; Oluwole, Oluwafemi; Arinola, Ganiyu; Song, Wei; Correa, Adolfo; Musani, Solomon; Wilson, James G.; Lange, Leslie A.; Akey, Joshua; Bamshad, Michael; Chong, Jessica; Fu, Wenqing; Nickerson, Deborah; Reiner, Alexander; Hartert, Tina; Ware, Lorraine B.; Bleecker, Eugene; Meyers, Deborah; Ortega, Victor E.; Maul, Pissamai; Maul, Trevor; Watson, Harold; Ilma Araujo, Maria; Riccio Oliveira, Ricardo; Caraballo, Luis; Marrugo, Javier; Martinez, Beatriz; Meza, Catherine; Ayestas, Gerardo; Francisco Herrera-Paz, Edwin; Landaverde-Torres, Pamela; Erazo, Said Omar Leiva; Martinez, Rosella; Mayorga, Alvaro; Mayorga, Luis F.; Mejia-Mejia, Delmy-Aracely; Ramos, Hector; Saenz, Allan; Varela, Gloria; Marina Vasquez, Olga; Ferguson, Trevor; Knight-Madden, Jennifer; Samms-Vaughan, Maureen; Wilks, Rainford J.; Adegnika, Akim; Ateba-Ngoa, Ulysse; Yazdanbakhsh, Maria

2017-01-01

A primary goal of The Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) is to develop an ‘African Diaspora Power Chip’ (ADPC), a genotyping array consisting of tagging SNPs, useful in comprehensively identifying African specific genetic variation. This array is designed based on the novel variation identified in 642 CAAPA samples of African ancestry with high coverage whole genome sequence data (~30× depth). This novel variation extends the pattern of variation catalogued in the 1000 Genomes and Exome Sequencing Projects to a spectrum of populations representing the wide range of West African genomic diversity. These individuals from CAAPA also comprise a large swath of the African Diaspora population and incorporate historical genetic diversity covering nearly the entire Atlantic coast of the Americas. Here we show the results of designing and producing such a microchip array. This novel array covers African specific variation far better than other commercially available arrays, and will enable better GWAS analyses for researchers with individuals of African descent in their study populations. A recent study cataloging variation in continental African populations suggests this type of African-specific genotyping array is both necessary and valuable for facilitating large-scale GWAS in populations of African ancestry. PMID:28429804

Knowledge, group-based medical mistrust, future expectations, and perceived disadvantages of medical genetic testing: perspectives of Black African immigrants/refugees.

PubMed

Buseh, A; Kelber, S; Millon-Underwood, S; Stevens, P; Townsend, L

2014-01-01

Reasons for low participation of ethnic minorities in genetic studies are multifactorial and often poorly understood. Based on published literature, participation in genetic testing is low among Black African immigrants/refugees although they are purported to bear disproportionate disease burden. Thus, research involving Black African immigrant/refugee populations that examine their perspectives on participating in genetic studies is needed. This report examines and describes the knowledge of medical genetics, group-based medical mistrust, and future expectations of genetic research and the influence of these measures on the perceived disadvantages of genetic testing among Black African immigrants/refugees. Using a cross-sectional survey design, a nonprobability sample (n = 212) of Black African immigrants/refugees was administered a questionnaire. Participants ranged in age from 18 to 61 years (mean = 38.91, SD = 9.78). The questionnaire consisted of 5 instruments: (a) sociodemographic characteristics, (b) Knowledge of Medical Genetics scale, (c) Group-Based Medical Mistrust Scale, (d) Future Expectations/Anticipated Consequences of Genetics Research scale, and (e) Perceived Disadvantages of Genetic Testing scale. Participants were concerned that genetic research may result in scientists 'playing God,' interfering with the natural order of life. In multivariate analyses, the perceived disadvantages of genetic testing increased as medical mistrust and anticipated negative impacts of genetic testing increased. Increase in genetic knowledge contributed to a decrease in perceived disadvantages. Our findings suggest that recruitment of Black African immigrants/refugees in genetic studies should address potential low knowledge of genetics, concerns about medical mistrust, the expectations/anticipated consequences of genetic research, and the perceived disadvantages of genetic testing.

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.

PubMed

Franceschini, Nora; Fox, Ervin; Zhang, Zhaogong; Edwards, Todd L; Nalls, Michael A; Sung, Yun Ju; Tayo, Bamidele O; Sun, Yan V; Gottesman, Omri; Adeyemo, Adebawole; Johnson, Andrew D; Young, J Hunter; Rice, Ken; Duan, Qing; Chen, Fang; Li, Yun; Tang, Hua; Fornage, Myriam; Keene, Keith L; Andrews, Jeanette S; Smith, Jennifer A; Faul, Jessica D; Guangfa, Zhang; Guo, Wei; Liu, Yu; Murray, Sarah S; Musani, Solomon K; Srinivasan, Sathanur; Velez Edwards, Digna R; Wang, Heming; Becker, Lewis C; Bovet, Pascal; Bochud, Murielle; Broeckel, Ulrich; Burnier, Michel; Carty, Cara; Chasman, Daniel I; Ehret, Georg; Chen, Wei-Min; Chen, Guanjie; Chen, Wei; Ding, Jingzhong; Dreisbach, Albert W; Evans, Michele K; Guo, Xiuqing; Garcia, Melissa E; Jensen, Rich; Keller, Margaux F; Lettre, Guillaume; Lotay, Vaneet; Martin, Lisa W; Moore, Jason H; Morrison, Alanna C; Mosley, Thomas H; Ogunniyi, Adesola; Palmas, Walter; Papanicolaou, George; Penman, Alan; Polak, Joseph F; Ridker, Paul M; Salako, Babatunde; Singleton, Andrew B; Shriner, Daniel; Taylor, Kent D; Vasan, Ramachandran; Wiggins, Kerri; Williams, Scott M; Yanek, Lisa R; Zhao, Wei; Zonderman, Alan B; Becker, Diane M; Berenson, Gerald; Boerwinkle, Eric; Bottinger, Erwin; Cushman, Mary; Eaton, Charles; Nyberg, Fredrik; Heiss, Gerardo; Hirschhron, Joel N; Howard, Virginia J; Karczewsk, Konrad J; Lanktree, Matthew B; Liu, Kiang; Liu, Yongmei; Loos, Ruth; Margolis, Karen; Snyder, Michael; Psaty, Bruce M; Schork, Nicholas J; Weir, David R; Rotimi, Charles N; Sale, Michele M; Harris, Tamara; Kardia, Sharon L R; Hunt, Steven C; Arnett, Donna; Redline, Susan; Cooper, Richard S; Risch, Neil J; Rao, D C; Rotter, Jerome I; Chakravarti, Aravinda; Reiner, Alex P; Levy, Daniel; Keating, Brendan J; Zhu, Xiaofeng

2013-09-05

High blood pressure (BP) is more prevalent and contributes to more severe manifestations of cardiovascular disease (CVD) in African Americans than in any other United States ethnic group. Several small African-ancestry (AA) BP genome-wide association studies (GWASs) have been published, but their findings have failed to replicate to date. We report on a large AA BP GWAS meta-analysis that includes 29,378 individuals from 19 discovery cohorts and subsequent replication in additional samples of AA (n = 10,386), European ancestry (EA) (n = 69,395), and East Asian ancestry (n = 19,601). Five loci (EVX1-HOXA, ULK4, RSPO3, PLEKHG1, and SOX6) reached genome-wide significance (p < 1.0 × 10(-8)) for either systolic or diastolic BP in a transethnic meta-analysis after correction for multiple testing. Three of these BP loci (EVX1-HOXA, RSPO3, and PLEKHG1) lack previous associations with BP. We also identified one independent signal in a known BP locus (SOX6) and provide evidence for fine mapping in four additional validated BP loci. We also demonstrate that validated EA BP GWAS loci, considered jointly, show significant effects in AA samples. Consequently, these findings suggest that BP loci might have universal effects across studied populations, demonstrating that multiethnic samples are an essential component in identifying, fine mapping, and understanding their trait variability. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Patterns of population subdivision, gene flow and genetic variability in the African wild dog (Lycaon pictus).

PubMed

Girman, D J; Vilà, C; Geffen, E; Creel, S; Mills, M G; McNutt, J W; Ginsberg, J; Kat, P W; Mamiya, K H; Wayne, R K

2001-07-01

African wild dogs are large, highly mobile carnivores that are known to disperse over considerable distances and are rare throughout much of their geographical range. Consequently, genetic variation within and differentiation between geographically separated populations is predicted to be minimal. We determined the genetic diversity of mitochondrial DNA (mtDNA) control region sequences and microsatellite loci in seven populations of African wild dogs. Analysis of mtDNA nucleotide diversity suggests that, historically, wild dog populations have been small relative to other large carnivores. However, population declines due to recent habitat loss have not caused a dramatic reduction in genetic diversity. We found one historical and eight recent mtDNA genotypes in 280 individuals that defined two highly divergent clades. In contrast to a previous, more limited, mtDNA analysis, sequences from these clades are not geographically restricted to eastern or southern African populations. Rather, we found a large admixture zone spanning populations from Botswana, Zimbabwe and south-eastern Tanzania. Mitochondrial and microsatellite differentiation between populations was significant and unique mtDNA genotypes and alleles characterized the populations. However, gene flow estimates (Nm) based on microsatellite data were generally greater than one migrant per generation. In contrast, gene flow estimates based on the mtDNA control region were lower than expected given differences in the mode of inheritance of mitochondrial and nuclear markers which suggests a male bias in long-distance dispersal.

Using group model building to develop a culturally grounded model of breastfeeding for low-income African American women in the USA.

PubMed

Reno, Rebecca

2017-03-02

To identify barriers and supporting factors for breastfeeding, and the dynamic interactions between them, as identified by low-income African American women and lactation peer helpers. Stark breastfeeding disparities exist between African American mothers and their White counterparts in the USA. This pattern is often replicated across the globe, with marginalised populations demonstrating decreased breastfeeding rates. While breastfeeding research focused on sociocultural factors for different populations has been conducted, a more dynamic model of the factors impacting breastfeeding may help identify effective leverage points for change. Group model building was used as a grounded theoretical approach, to build and validate a model representing factors impacting breastfeeding and the relationships between them. Low-income African American women (n = 21) and lactation peer helpers (n = 3) were engaged in model building sessions to identify factors impacting breastfeeding. A two-cycle process was used for analysis, in vivo and axial coding. The final factors and model were validated with a subgroup of participants. The participants generated 82 factors that make breastfeeding easier, and 86 factors that make breastfeeding more challenging. These were grouped into 10 and 14 themes, respectively. A final model was constructed identifying three domains impacting breastfeeding: a mother's return to work or school, her knowledge, support and persistence, and the social acceptance of breastfeeding. This study documented the sociocultural context within which low-income African American women are situated by identifying factors impacting breastfeeding, and the dynamic interactions between them. The model also provided various leverage points from which breastfeeding women can be supported. Postpartum nurses are critical in supporting breastfeeding practices. To be most effective, they must be aware of the factors impacting breastfeeding, some of which may be unique to

The categorization of African descent populations in Europe and the USA: should lexicons of recommended terminology be evidence-based?

PubMed

Aspinall, P J

2008-01-01

This review attempts to evaluate a proposed lexicon for African-descent populations from the viewpoint of saliency amongst those described and wider official and scientific usage, focusing on Britain and the USA. It is argued that it is unsatisfactory to privilege the term 'African American' over 'Black' for African-descent populations in the USA as the evidence base shows that both labels compete as self-designations on co-equal terms, while 'Black' is the prevalent term in scientific writing. Moreover, 'African American' is not an inclusive term for the African-descent population and it is not known how prevalent and enduring the term will prove to be. With respect to Britain, the census terms of 'Black African' and 'Black Caribbean' are well established, the increasing popularity of 'Black British' also being recognized in census labels. Given the increasing interest in the relationship between ethnic identity and health, there are arguments for documenting the diversity of terminology amongst different user constituencies in country-specific settings. The approach of synthetic glossaries of consensual terms may, through the need for economy and parsimony in the use of terminology, contribute to an unsatisfactory paring of that diversity.

THE IMPACT OF HISPANIC POPULATION GROWTH ON THE OUTLOOK OF AFRICAN AMERICANS

PubMed Central

Taylor, Marylee C.; Schroeder, Matthew B.

2014-01-01

We know too little about the effects of immigration on black Americans. If prior research yields mixed evidence about immigration’s consequences for the objective well-being of African Americans, it is silent about effects of immigration on blacks’ subjective well-being. To fill that void, this paper assesses the impact of the expanding Hispanic population on black Americans from a social psychological perspective. We ask whether blacks’ self-reported distress, social distrust, or attitudes toward Hispanics and immigrants are affected by the size of the local Hispanic population or by the percentage growth in local Hispanic residents. Answers come from responses of non-Hispanic black participants in the 1998–2002 General Social Surveys, linked to 1990 and 2000 census data. Contrary to pessimistic claims, most social psychological outcomes, including measures of economic distress, manifest no impact of local Hispanic numbers. The four exceptions, significant effects of local Hispanic population share or percentage growth evenly split in valence, underscore the complexity of recent immigration’s effects on African Americans. PMID:25242830

Systemic lupus erythematosus in an African Caribbean population: incidence, clinical manifestations, and survival in the Barbados National Lupus Registry.

PubMed

Flower, Cindy; Hennis, Anselm J M; Hambleton, Ian R; Nicholson, George D; Liang, Matthew H

2012-08-01

To assess the epidemiology, clinical features, and outcomes of systemic lupus erythematosus (SLE) in the predominantly African Caribbean population of Barbados. A national registry of all patients diagnosed with SLE was established in 2007. Complete case ascertainment was facilitated by collaboration with the island's sole rheumatology service, medical practitioners, and the lupus advocacy group. Informed consent was required for inclusion. Between January 1, 2000 and December 31, 2009, there were 183 new cases of SLE (98% African Caribbean) affecting 172 women and 11 men for unadjusted annual incidence rates of 12.21 (95% confidence interval [95% CI] 10.46-14.18) and 0.84 (95% CI 0.42-1.51) per 100,000 person-years, respectively. Excluding pediatric cases (ages <18 years), the unadjusted incidence rate among women was 15.14 per 100,000 person-years. The principal presenting manifestations were arthritis (84%), nephritis (47%), pleuritis (41.5%), malar rash (36.4%), and discoid lesions (33.1%). Antinuclear antibody positivity was 95%. The overall 5-year survival rate was 79.9% (95% CI 69.6-87.1), decreasing to 68% in patients with nephritis. A total of 226 persons with SLE were alive at the end of the study for point prevalences of 152.6 (95% CI 132.8-174.5) and 10.1 (95% CI 5.4-17.2) per 100,000 among women and men, respectively. Rates of SLE in Barbadian women are among the highest reported to date, with clinical manifestations similar to African American women and high mortality. Further study of this population and similar populations of West African descent might assist our understanding of environmental, genetic, and health care issues underpinning disparities in SLE. Copyright © 2012 by the American College of Rheumatology.

Perception of Obesity in African-American and Arab-American Minority Groups.

PubMed

McClelland, Molly L; Weekes, Carmon V N; Bazzi, Hussein; Warwinsky, Joshua; Abouarabi, Wassim; Snell, Felicia; Salamey, Tarick

2016-03-01

Effectiveness of health education programs and interventions, designed to improve obesity rates, may vary according to perceptions of health within cultural groups. A qualitative approach was used. Two minority cultural groups (Arab-American and African-American) living in the same county were studied to compare perceptions of health, nutrition, and obesity and subsequent health behaviors. Control, expectations, bias, acceptance, and access were the five themes identified. Arab-Americans that had lower weights, lower prevalence of chronic diseases, expected healthy weights, reported age and gender bias related to being overweight were not as accepting of being overweight and did not report difficulties in accessing healthy food choices compared to their African-American counterparts. Health interventions aimed at reducing obesity rates and related chronic diseases should be culturally specific and aimed at changing expected and accepted cultural norms. Cultural group's void of certain disease states should be studied and used as models to ameliorate the problem in other cultures. Changing health behaviors within a certain cultural group may produce better outcomes when initiated from a member of that same group. The impact of economic and environmental factors on health behaviors must also be considered.

World pandemic of obesity: the situation in Southern African populations.

PubMed

Walker, A R; Adam, F; Walker, B F

2001-11-01

Among sub-Saharan Africans in general, a generation or so ago, there was very little gain in weight, or in blood pressure, with age. Even at present, in most populations, especially in the indigent masses, obesity prevalence remains very low, at 1-5%. However, in South Africa and some neighbouring countries, Botswana, Namibia and Zimbabwe, with rise in socio-economic status, urbanization, and diminishing physical activity, the proportion affected has increased. Rises, as noted in Cape Town, have been only slight in men, to 8%; but in women much more so, to 34%, ie to a level similar to that of African-American women. Dietarily, energy intake has increased slightly, that from fat from 15-20% to 25-30%. However, there have been falls in dietary fibre intake, to 20-25 g and 15-20 g daily, in rural and urban areas, respectively. Evidence suggests that the health disadvantage of obesity in African women is less than that in white women, and would seem to have little influence on their proneness to hypertension, coronary heart disease and breast cancer. Traditionally, and even currently, sociologically, the disorder carries little opprobrium. As to the future, the prevalence in women may well increase still further. Regarding treatment, unfortunately among African women desirous of losing weight, sustained reducing measures are near impossible; moreover, pharmacological treatment is too costly to implement.

Black versus Black: The Relationship among African, African American, and African Caribbean Persons.

ERIC Educational Resources Information Center

Jackson, Jennifer V.; Cothran, Mary E.

2003-01-01

Surveyed people of African descent regarding relationships among African, African-American, and African-Caribbean persons, focusing on contact and friendship, travel to countries of the diaspora, cross-cultural communication, thoughts and stereotypes, and education. Most respondents had contacts with the other groups, but groups had preconceived…

Genetic diversity and population structure of South African smallholder farmer sheep breeds determined using the OvineSNP50 beadchip.

PubMed

Molotsi, Annelin H; Taylor, Jeremy F; Cloete, Schalk W P; Muchadeyi, Farai; Decker, Jared E; Whitacre, Lynsey K; Sandenbergh, Lise; Dzama, Kennedy

2017-12-01

A population structure study was performed in South African ovine populations using the OvineSNP50 beadchip. Blood samples were obtained from 295 sheep of which 172 had been identified as smallholder Dorpers, 4 smallholder White Dorpers, 46 purebred Dorpers, 26 purebred South African Mutton Merinos and 47 purebred Namaqua Afrikaners. Blood from the latter three breeds were obtained from a resource flock maintained on the Nortier research farm. Genetic diversity was estimated using allelic richness (A r ), observed heterozygosity (H o ), expected heterozygosity (H e ) and inbreeding coefficient (F). Population structure analysis was performed using fastSTRUCTURE to determine the breed composition of each genotyped individual. The Namaqua Afrikaner had the lowest H e of 0.280 ± 0.18 while the H e of smallholder Dorper, Dorper and South African Mutton Merino did not differ and were 0.364 ± 0.13, 0.332 ± 0.16 and 0.329 ± 0.17, respectively. The average inbreeding coefficient was highest for the pure breeds, Namaqua Afrikaner, Dorper and South African Mutton Merino compared to the average inbreeding coefficient for the smallholder Dorper population. The smallholder Dorper were introgressed with Namaqua Afrikaner, South African Mutton Merino and White Dorpers. Similarly, the smallholder Dorper population was more genetically diverse than the purebred Dorper, South African Mutton Merino and Namaqua Afrikaner from the research farm. The higher genetic diversity among the smallholder sheep may be advantageous for their fitness and can be used to facilitate selective breeding.

The episode of genetic drift defining the migration of humans out of Africa is derived from a large east African population size.

PubMed

Elhassan, Nuha; Gebremeskel, Eyoab Iyasu; Elnour, Mohamed Ali; Isabirye, Dan; Okello, John; Hussien, Ayman; Kwiatksowski, Dominic; Hirbo, Jibril; Tishkoff, Sara; Ibrahim, Muntaser E

2014-01-01

Human genetic variation particularly in Africa is still poorly understood. This is despite a consensus on the large African effective population size compared to populations from other continents. Based on sequencing of the mitochondrial Cytochrome C Oxidase subunit II (MT-CO2), and genome wide microsatellite data we observe evidence suggesting the effective size (Ne) of humans to be larger than the current estimates, with a foci of increased genetic diversity in east Africa, and a population size of east Africans being at least 2-6 fold larger than other populations. Both phylogenetic and network analysis indicate that east Africans possess more ancestral lineages in comparison to various continental populations placing them at the root of the human evolutionary tree. Our results also affirm east Africa as the likely spot from which migration towards Asia has taken place. The study reflects the spectacular level of sequence variation within east Africans in comparison to the global sample, and appeals for further studies that may contribute towards filling the existing gaps in the database. The implication of these data to current genomic research, as well as the need to carry out defined studies of human genetic variation that includes more African populations; particularly east Africans is paramount.

Association of substance use disorders with childhood trauma but not African genetic heritage in an African American cohort.

PubMed

Ducci, Francesca; Roy, Alec; Shen, Pei-Hong; Yuan, Qiaoping; Yuan, Nicole P; Hodgkinson, Colin A; Goldman, Lynn R; Goldman, David

2009-09-01

Genetic variation influences differential vulnerability to addiction within populations. However, it remains unclear whether differences in frequencies of vulnerability alleles contribute to disparities between populations and to what extent ancestry correlates with differential exposure to environmental risk factors, including poverty and trauma. The authors used 186 ancestry-informative markers to measure African ancestry in 407 addicts and 457 comparison subjects self-identified as African Americans. The reference group was 1,051 individuals from the Human Genome Diversity Cell Line Panel, which includes 51 diverse populations representing most worldwide genetic diversity. African Americans varied in degrees of African, European, Middle Eastern, and Central Asian genetic heritage. The overall level of African ancestry was actually smaller among cocaine, opiate, and alcohol addicts (proportion=0.76-0.78) than nonaddicted African American comparison subjects (proportion=0.81). African ancestry was associated with living in impoverished neighborhoods, a factor previously associated with risk. There was no association between African ancestry and exposure to childhood abuse or neglect, a factor that strongly predicted all types of addictions. These results suggest that African genetic heritage does not increase the likelihood of genetic risk for addictions. They highlight the complex interrelation between genetic ancestry and social, economic, and environmental conditions and the strong relation of those factors to addiction. Studies of epidemiological samples characterized for genetic ancestry and social, psychological, demographic, economic, cultural, and historical factors are needed to better disentangle the effects of genetic and environmental factors underlying interpopulation differences in vulnerability to addiction and other health disparities.

Association of Substance Use Disorders With Childhood Trauma but not African Genetic Heritage in an African American Cohort

PubMed Central

Ducci, Francesca; Roy, Alec; Shen, Pei-Hong; Yuan, Qiaoping; Yuan, Nicole P.; Hodgkinson, Colin A.; Goldman, Lynn R.; Goldman, David

2009-01-01

Objective Genetic variation influences differential vulnerability to addiction within populations. However, it remains unclear whether differences in frequencies of vulnerability alleles contribute to disparities between populations and to what extent ancestry correlates with differential exposure to environmental risk factors, including poverty and trauma. Method The authors used 186 ancestry-informative markers to measure African ancestry in 407 addicts and 457 comparison subjects self-identified as African Americans. The reference group was 1,051 individuals from the Human Genome Diversity Cell Line Panel, which includes 51 diverse populations representing most worldwide genetic diversity. Results African Americans varied in degrees of African, European, Middle Eastern, and Central Asian genetic heritage. The overall level of African ancestry was actually smaller among cocaine, opiate, and alcohol addicts (proportion=0.76–0.78) than nonaddicted African American comparison subjects (proportion=0.81). African ancestry was associated with living in impoverished neighborhoods, a factor previously associated with risk. There was no association between African ancestry and exposure to childhood abuse or neglect, a factor that strongly predicted all types of addictions. Conclusions These results suggest that African genetic heritage does not increase the likelihood of genetic risk for addictions. They highlight the complex interrelation between genetic ancestry and social, economic, and environmental conditions and the strong relation of those factors to addiction. Studies of epidemiological samples characterized for genetic ancestry and social, psychological, demographic, economic, cultural, and historical factors are needed to better disentangle the effects of genetic and environmental factors underlying interpopulation differences in vulnerability to addiction and other health disparities. PMID:19605534

HIV/AIDS among African Americans: progress or progression?

PubMed

Smith, D K; Gwinn, M; Selik, R M; Miller, K S; Dean-Gaitor, H; Ma'at, P I; De Cock, K M; Gayle, H D

2000-06-16

To review data on the extent of HIV infection and associated risk behaviors, the occurrence of AIDS, and HIV-related mortality in African Americans and to suggest what can be done to reduce HIV exposure and infection in this population. Review of epidemiologic, published, multisite data on HIV infection in, and related behaviors of, African Americans. On every epidemiologic measure in common use, African Americans, compared with the four other federally recognized racial/ethnic groups, have the most severe epidemic. The trend data show continuing growth in the African American epidemic despite the availability of effective behavioral interventions and biomedical treatments. Few published intervention studies with African American populations have been adequately evaluated; nor have they focused proportionately on men who have sex with men, a group in the African American community with continuing high rates of infection. Rates of HIV transmission and disease among African Americans are high, disproportionate, and are not declining as significantly in response to effective interventions as they are among whites. Attention is urgently needed to increase our understanding of risk behaviors, social networks, and specific factors in the African American community that can be altered to reduce HIV infection. Macroenvironmental factors--poverty, social class, racism--need to be studied to suggest possible intervention components to reduce rates of HIV transmission and to increase the use of therapies that are more effectively slowing disease progression and lowering death rates among whites.

Analysis of betaS and betaA genes in a Mexican population with African roots.

PubMed

Magaña, María Teresa; Ongay, Zoyla; Tagle, Juan; Bentura, Gilberto; Cobián, José G; Perea, F Javier; Casas-Castañeda, Maricela; Sánchez-López, Yoaly J; Ibarra, Bertha

2002-01-01

To investigate the origin of the beta(A) and beta(S) genes in a Mexican population with African roots and a high frequency of hemoglobin S, we analyzed 467 individuals (288 unrelated) from different towns in the states of Guerrero and Oaxaca in the Costa Chica region. The frequency of the sickle-cell trait was 12.8%, which may represent a public health problem. The frequencies of the beta-haplotypes were determined from 350 nonrelated chromosomes (313 beta(A) and 37 beta(S)). We observed 15 different beta(A) haplotypes, the most common of which were haplotypes 1 (48.9%), 2 (13.4%), and 3 (13.4%). The calculation of pairwise distributions and Nei's genetic distance analysis using 32 worldwide populations showed that the beta(A) genes are more closely related to those of Mexican Mestizos and North Africans. Bantu and Benin haplotypes and haplotype 9 were related to the beta(S) genes, with frequencies of 78.8, 18.2, and 3.0%, respectively. Comparison of these haplotypes with 17 other populations revealed a high similitude with the population of the Central African Republic. These data suggest distinct origins for the beta(A) and beta(S) genes in Mexican individuals from the Costa Chica region.

Poor nutrient intake and high obese rate in an urban African American population with hypertension.

PubMed

Jen, K-L Catherine; Brogan, Kathryn; Washington, Olivia G M; Flack, John M; Artinian, Nancy T

2007-02-01

To describe the nutrient intake patterns and general health conditions in an African American (AA) hypertensive population living in Detroit, MI. Demographic, anthropometric, general health condition and 3-day dietary recalls were collected from 387 AAs in community-based settings. Only data from 342 participants who met the inclusion criteria were reported. The obesity and type 2 diabetes prevalence in this minority population were significantly higher, and both energy and nutrient intakes were significantly lower than the RDAs or those reported in NHANES. Female participants reported their highest weight at an earlier age but their body weight reduced in the older group. No such trend was observed in male participants. Both males and females consumed significantly fewer servings of fruit, vegetable and grains as recommended by USDA. As household income increased, the consumption of fruits and vegetables were also increased. In order to reduce the incidence of obesity and hypertension in this minority population, dietary intervention should begin at adolescence or even earlier. DASH diet would be beneficial for this population.

African genetic diversity provides novel insights into evolutionary history and local adaptations.

PubMed

Choudhury, Ananyo; Aron, Shaun; Sengupta, Dhriti; Hazelhurst, Scott; Ramsay, Michèle

2018-05-08

Genetic variation and susceptibility to disease are shaped by human demographic history. We can now study the genomes of extant Africans and uncover traces of population migration, admixture, assimilation and selection by applying sophisticated computational algorithms. There are four major ethnolinguistic divisions among present day Africans: Hunter-gatherer populations in southern and central Africa; Nilo-Saharan speakers from north and northeast Africa; Afro-Asiatic speakers from east Africa; and Niger-Congo speakers who are the predominant ethnolinguistic group spread across most of sub-Saharan Africa. The enormous ethnolinguistic diversity in sub-Saharan African populations is largely paralleled by extensive genetic diversity and until a decade ago, little was known about the origins and divergence of these groups. Results from large-scale population genetic studies, and more recently whole genome sequence data, are unraveling the critical role of events like migration and admixture and environment factors including diet, infectious diseases and climatic conditions in shaping current population diversity. It is now possible to start providing quantitative estimates of divergence times, population size and dynamic processes that have affected populations and their genetic risk for disease. Finally, the availability of ancient genomes from Africa is providing historical insights of unprecedented depth. In this review, we highlight some key interpretations that have emerged from recent African genome studies.

African Ancestry and Its Correlation to Type 2 Diabetes in African Americans: A Genetic Admixture Analysis in Three U.S. Population Cohorts

PubMed Central

Cheng, Ching-Yu; Reich, David; Haiman, Christopher A.; Tandon, Arti; Patterson, Nick; Elizabeth, Selvin; Akylbekova, Ermeg L.; Brancati, Frederick L.; Coresh, Josef; Boerwinkle, Eric; Altshuler, David; Taylor, Herman A.; Henderson, Brian E.; Wilson, James G.; Kao, W. H. Linda

2012-01-01

The risk of type 2 diabetes is approximately 2-fold higher in African Americans than in European Americans even after adjusting for known environmental risk factors, including socioeconomic status (SES), suggesting that genetic factors may explain some of this population difference in disease risk. However, relatively few genetic studies have examined this hypothesis in a large sample of African Americans with and without diabetes. Therefore, we performed an admixture analysis using 2,189 ancestry-informative markers in 7,021 African Americans (2,373 with type 2 diabetes and 4,648 without) from the Atherosclerosis Risk in Communities Study, the Jackson Heart Study, and the Multiethnic Cohort to 1) determine the association of type 2 diabetes and its related quantitative traits with African ancestry controlling for measures of SES and 2) identify genetic loci for type 2 diabetes through a genome-wide admixture mapping scan. The median percentage of African ancestry of diabetic participants was slightly greater than that of non-diabetic participants (study-adjusted difference = 1.6%, P<0.001). The odds ratio for diabetes comparing participants in the highest vs. lowest tertile of African ancestry was 1.33 (95% confidence interval 1.13–1.55), after adjustment for age, sex, study, body mass index (BMI), and SES. Admixture scans identified two potential loci for diabetes at 12p13.31 (LOD = 4.0) and 13q14.3 (Z score = 4.5, P = 6.6×10−6). In conclusion, genetic ancestry has a significant association with type 2 diabetes above and beyond its association with non-genetic risk factors for type 2 diabetes in African Americans, but no single gene with a major effect is sufficient to explain a large portion of the observed population difference in risk of diabetes. There undoubtedly is a complex interplay among specific genetic loci and non-genetic factors, which may both be associated with overall admixture, leading to the observed ethnic differences in

African American grandfamilies' attitudes and feelings about sexual communication: focus group results.

PubMed

Cornelius, Judith B; LeGrand, Sara; Jemmott, Loretta Sweet

2009-01-01

Little attention has been given to the responsibilities that African American grandparent caregivers face when they assume the role of raising their grandchildren. One particularly challenging task of grandparent caregivers is communicating with their grandchildren about sexuality issues. This study therefore examined the sexual communications and attitudes and feelings toward these communications between African American grandparent caregivers and their adolescent grandchildren (11-13 years of age). Focus group methodology was used to generate data about the grandparent/grandchild sexuality communication process and attitudes and feelings toward that process. The sample included 40 dyads of African American grandparents/grandchildren, for a total of 80 participants. Grandparents as well as their adolescent grandchildren desired open communication about sexuality issues, said that societal pressure makes sexual encounters hard to resist, and felt that they needed assistance with the sexuality communication process. Nurses can build upon the study's results to assist African American grandparents and their adolescent grandchildren with sexual communication.

Polymorphisms of Estrogen Metabolism-Related Genes and Prostate Cancer Risk in Two Populations of African Ancestry

PubMed Central

Emeville, Elise; Ferdinand, Séverine; Punga, Augustin; Lufuma, Simon; Blanchet, Pascal; Romana, Marc; Multigner, Luc

2016-01-01

Background Estrogens are thought to play a critical role in prostate carcinogenesis. It has been suggested that polymorphisms of genes encoding enzymes involved in estrogen metabolism are risk factors for prostate cancer. However, few studies have been performed on populations of African ancestry, which are known to have a high risk of prostate cancer. Objective We investigated whether functional polymorphisms of CYP17, CYP19, CYP1B1, COMT and UGT1A1 affected the risk of prostate cancer in two different populations of African ancestry. Methods In Guadeloupe (French West Indies), we compared 498 prostate cancer patients and 565 control subjects. In Kinshasa (Democratic Republic of Congo), 162 prostate cancer patients were compared with 144 controls. Gene polymorphisms were determined by the SNaPshot technique or short tandem repeat PCR analysis. Logistic regression was used to estimate adjusted odds ratios (OR) and 95% confidence intervals (CI). Results The AA genotype and the A allele of rs4680 (COMT) appeared to be inversely associated with the risk of prostate cancer in adjusted models for both Afro-Caribbean and native African men. For the A allele, a significant inverse association was observed among cases with low-grade Gleason scores and localized clinical stage, in both populations. Conclusions These preliminary results support the hypothesis that polymorphisms of genes encoding enzymes involved in estrogen metabolism may modulate the risk of prostate cancer in populations of African ancestry. PMID:27074016

Identification of Strategies to Facilitate Organ Donation among African Americans using the Nominal Group Technique

PubMed Central

Qu, Haiyan; Shewchuk, Richard; Mannon, Roslyn B.; Gaston, Robert; Segev, Dorry L.; Mannon, Elinor C.; Martin, Michelle Y.

2015-01-01

Background and objectives African Americans are disproportionately affected by ESRD, but few receive a living donor kidney transplant. Surveys assessing attitudes toward donation have shown that African Americans are less likely to express a willingness to donate their own organs. Studies aimed at understanding factors that may facilitate the willingness of African Americans to become organ donors are needed. Design, setting, participants, & measurements A novel formative research method was used (the nominal group technique) to identify and prioritize strategies for facilitating increases in organ donation among church-attending African Americans. Four nominal group technique panel interviews were convened (three community and one clergy). Each community panel represented a distinct local church; the clergy panel represented five distinct faith-based denominations. Before nominal group technique interviews, participants completed a questionnaire that assessed willingness to become a donor; 28 African-American adults (≥19 years old) participated in the study. Results In total, 66.7% of participants identified knowledge- or education-related strategies as most important strategies in facilitating willingness to become an organ donor, a view that was even more pronounced among clergy. Three of four nominal group technique panels rated a knowledge-based strategy as the most important and included strategies, such as information on donor involvement and donation-related risks; 29.6% of participants indicated that they disagreed with deceased donation, and 37% of participants disagreed with living donation. Community participants’ reservations about becoming an organ donor were similar for living (38.1%) and deceased (33.4%) donation; in contrast, clergy participants were more likely to express reservations about living donation (33.3% versus 16.7%). Conclusions These data indicate a greater opposition to living donation compared with donation after one’s death

Identification of strategies to facilitate organ donation among African Americans using the nominal group technique.

PubMed

Locke, Jayme E; Qu, Haiyan; Shewchuk, Richard; Mannon, Roslyn B; Gaston, Robert; Segev, Dorry L; Mannon, Elinor C; Martin, Michelle Y

2015-02-06

African Americans are disproportionately affected by ESRD, but few receive a living donor kidney transplant. Surveys assessing attitudes toward donation have shown that African Americans are less likely to express a willingness to donate their own organs. Studies aimed at understanding factors that may facilitate the willingness of African Americans to become organ donors are needed. A novel formative research method was used (the nominal group technique) to identify and prioritize strategies for facilitating increases in organ donation among church-attending African Americans. Four nominal group technique panel interviews were convened (three community and one clergy). Each community panel represented a distinct local church; the clergy panel represented five distinct faith-based denominations. Before nominal group technique interviews, participants completed a questionnaire that assessed willingness to become a donor; 28 African-American adults (≥19 years old) participated in the study. In total, 66.7% of participants identified knowledge- or education-related strategies as most important strategies in facilitating willingness to become an organ donor, a view that was even more pronounced among clergy. Three of four nominal group technique panels rated a knowledge-based strategy as the most important and included strategies, such as information on donor involvement and donation-related risks; 29.6% of participants indicated that they disagreed with deceased donation, and 37% of participants disagreed with living donation. Community participants' reservations about becoming an organ donor were similar for living (38.1%) and deceased (33.4%) donation; in contrast, clergy participants were more likely to express reservations about living donation (33.3% versus 16.7%). These data indicate a greater opposition to living donation compared with donation after one's death among African Americans and suggest that improving knowledge about organ donation, particularly

Rheumatoid arthritis in a rural South African Negro population.

PubMed Central

Beighton, P; Solomon, L; Valkenburg, H A

1975-01-01

(1) An epidemiological study of a rural African community has been carried out in the Western Transvaal. Altogether 801 respondents over 15 years old were examined; radiographs of the hands and feet were obtained in all these individuals. Serological tests for rheumatoid factor were carried out on 516 blood samples. (2) The diagnosis of inflammatory polyarthritis was based on a modification of the Rome Criteria of 1961. Two categories were defined: 'definite' and 'probable' rheumatoid arthritis. (3) In this population inflammatory polyarthritis was much less common and much milder in its manifestations than in European and American peoples. The prevalence of 'definite' rheumatoid arthritis was 0.12% and of 'definite' and 'probable' rheumatoid arthritis combined, 0.87. Such changes as were encountered on clinical and radiological examination were invariably mild; no respondent in the entire survey had clinical features that would have been accepted in the ordinary way as those of rheumatoid arthritis. (4) The latex fixation test (LFT) was positive in 8.9% of the sera tested; the modified LFT aftaer inactivation of the serum at 56 degrees C was positive in 15.1% of cases. Similar findings in West African populations have been explained on the basis of alteration of the immune response by widespread parasitic infections. No obvious aetiological factor of this type was found in the present survey. PMID:1137440

Diversity among African Pygmies

PubMed Central

Ramírez Rozzi, Fernando V.; Sardi, Marina L.

2010-01-01

Although dissimilarities in cranial and post-cranial morphology among African pygmies groups have been recognized, comparative studies on skull morphology usually pull all pygmies together assuming that morphological characters are similar among them and different with respect to other populations. The main aim of this study is to compare cranial morphology between African pygmies and non-pygmies populations from Equatorial Africa derived from both the Eastern and the Western regions in order to test if the greatest morphological difference is obtained in the comparison between pygmies and non-pygmies. Thirty three-dimensional (3D) landmarks registered with Microscribe in four cranial samples (Western and Eastern pygmies and non-pygmies) were obtained. Multivariate analysis (generalized Procrustes analysis, Mahalanobis distances, multivariate regression) and complementary dimensions of size were evaluated with ANOVA and post hoc LSD. Results suggest that important cranial shape differentiation does occur between pygmies and non-pygmies but also between Eastern and Western populations and that size changes and allometries do not affect similarly Eastern and Western pygmies. Therefore, our findings raise serious doubt about the fact to consider African pygmies as a homogenous group in studies on skull morphology. Differences in cranial morphology among pygmies would suggest differentiation after divergence. Although not directly related to skull differentiation, the diversity among pygmies would probably suggest that the process responsible for reduced stature occurred after the split of the ancestors of modern Eastern and Western pygmies. PMID:21049030

Diversity among African pygmies.

PubMed

Ramírez Rozzi, Fernando V; Sardi, Marina L

2010-10-26

Although dissimilarities in cranial and post-cranial morphology among African pygmies groups have been recognized, comparative studies on skull morphology usually pull all pygmies together assuming that morphological characters are similar among them and different with respect to other populations. The main aim of this study is to compare cranial morphology between African pygmies and non-pygmies populations from Equatorial Africa derived from both the Eastern and the Western regions in order to test if the greatest morphological difference is obtained in the comparison between pygmies and non-pygmies. Thirty three-dimensional (3D) landmarks registered with Microscribe in four cranial samples (Western and Eastern pygmies and non-pygmies) were obtained. Multivariate analysis (generalized Procrustes analysis, Mahalanobis distances, multivariate regression) and complementary dimensions of size were evaluated with ANOVA and post hoc LSD. Results suggest that important cranial shape differentiation does occur between pygmies and non-pygmies but also between Eastern and Western populations and that size changes and allometries do not affect similarly Eastern and Western pygmies. Therefore, our findings raise serious doubt about the fact to consider African pygmies as a homogenous group in studies on skull morphology. Differences in cranial morphology among pygmies would suggest differentiation after divergence. Although not directly related to skull differentiation, the diversity among pygmies would probably suggest that the process responsible for reduced stature occurred after the split of the ancestors of modern Eastern and Western pygmies.

Obesity in the HIV-infected population in Northeast England: a particular issue in Black-African women.

PubMed

Ilozue, C; Howe, B; Shaw, S; Haigh, K; Hussey, J; Price, D A; Chadwick, D R

2017-03-01

People living with HIV are surviving longer on successful antiretroviral therapy and obesity rates are increasing. We sought to determine the prevalence of being overweight or obese in a regional population of people living with HIV and to explore the demographic and clinical characteristics associated with obesity or being overweight. Data on patients attending three Northeast England clinics were collected including body mass index and demographics. The prevalence of being overweight (body mass index ≥ 25 kg/m 2 ) or obese (body mass index ≥ 30 kg/m 2 ) was determined and compared with regional population data. Associations between being overweight or obese and demographic and other data were further explored using logistic regression models. In 560 patients studied (median age 45 years, 26% Black-African and 69% male), 65% were overweight/obese and 26% obese, which is similar to the local population. However, 83% and 48% of Black-African women were overweight/obese or obese, respectively, with 11% being morbidly obese (body mass index > 40 kg/m 2 ). In the multivariate analyses, the only factors significantly associated with obesity were Black-African race (adjusted odds ratio 2.78, 95% confidence interval 1.60-4.85) and type 2 diabetes (adjusted odds ratio 4.23, 95% confidence interval 1.81-9.91). Levels of obesity and overweight in people living with HIV are now comparable to the levels in the local population of Northeast England; however, the prevalence is significantly higher in Black-African women. Given the additional risk factors for cardiovascular disease inherent in people living with HIV, better strategies to prevent, identify and manage obesity in this population are needed.

Introduction and Rollout of a New Group A Meningococcal Conjugate Vaccine (PsA-TT) in African Meningitis Belt Countries, 2010–2014

PubMed Central

Djingarey, Mamoudou H.; Diomandé, Fabien V. K.; Barry, Rodrigue; Kandolo, Denis; Shirehwa, Florence; Lingani, Clement; Novak, Ryan T.; Tevi-Benissan, Carol; Perea, William; Preziosi, Marie-Pierre; LaForce, F. Marc

2015-01-01

Background. A group A meningococcal conjugate vaccine (PsA-TT) was developed specifically for the African “meningitis belt” and was prequalified by the World Health Organization (WHO) in June 2010. The vaccine was first used widely in Burkina Faso, Mali, and Niger in December 2010 with great success. The remaining 23 meningitis belt countries wished to use this new vaccine. Methods. With the help of African countries, WHO developed a prioritization scheme and used or adapted existing immunization guidelines to mount PsA-TT vaccination campaigns. Vaccine requirements were harmonized with the Serum Institute of India, Ltd. Results. Burkina Faso was the first country to fully immunize its 1- to 29-year-old population in December 2010. Over the next 4 years, vaccine coverage was extended to 217 million Africans living in 15 meningitis belt countries. Conclusions. The new group A meningococcal conjugate vaccine was well received, with country coverage rates ranging from 85% to 95%. The rollout proceeded smoothly because countries at highest risk were immunized first while attention was paid to geographic contiguity to maximize herd protection. Community participation was exemplary. PMID:26553672

Kin groups and trait groups: population structure and epidemic disease selection.

PubMed

Fix, A G

1984-10-01

A Monte Carlo simulation based on the population structure of a small-scale human population, the Semai Senoi of Malaysia, has been developed to study the combined effects of group, kin, and individual selection. The population structure resembles D.S. Wilson's structured deme model in that local breeding populations (Semai settlements) are subdivided into trait groups (hamlets) that may be kin-structured and are not themselves demes. Additionally, settlement breeding populations are connected by two-dimensional stepping-stone migration approaching 30% per generation. Group and kin-structured group selection occur among hamlets the survivors of which then disperse to breed within the settlement population. Genetic drift is modeled by the process of hamlet formation; individual selection as a deterministic process, and stepping-stone migration as either random or kin-structured migrant groups. The mechanism for group selection is epidemics of infectious disease that can wipe out small hamlets particularly if most adults become sick and social life collapses. Genetic resistance to a disease is an individual attribute; however, hamlet groups with several resistant adults are less likely to disintegrate and experience high social mortality. A specific human gene, hemoglobin E, which confers resistance to malaria, is studied as an example of the process. The results of the simulations show that high genetic variance among hamlet groups may be generated by moderate degrees of kin-structuring. This strong microdifferentiation provides the potential for group selection. The effect of group selection in this case is rapid increase in gene frequencies among the total set of populations. In fact, group selection in concert with individual selection produced a faster rate of gene frequency increase among a set of 25 populations than the rate within a single unstructured population subject to deterministic individual selection. Such rapid evolution with plausible rates of

New Regions of the Human Genome Linked to Skin Color Variation in Some African Populations

Cancer.gov

In the first study of its kind, an international team of genomics researchers has identified new regions of the human genome that are associated with skin color variation in some African populations, opening new avenues for research on skin diseases and cancer in all populations.

Disparities in the Population Distribution of African American and Non-Hispanic White Smokers Along the Quitting Continuum.

PubMed

Trinidad, Dennis R; Xie, Bin; Fagan, Pebbles; Pulvers, Kim; Romero, Devan R; Blanco, Lyzette; Sakuma, Kari-Lyn K

2015-12-01

To examine disparities and changes over time in the population-level distribution of smokers along a cigarette quitting continuum among African American smokers compared with non-Hispanic Whites. Secondary data analyses of the 1999, 2002, 2005, and 2008 California Tobacco Surveys (CTS). The CTS are large, random-digit-dialed, population-based surveys designed to assess changes in tobacco use in California. The number of survey respondents ranged from n = 6,744 to n = 12,876 across CTS years. Current smoking behavior (daily or nondaily smoking), number of cigarettes smoked per day, intention to quit in the next 6 months, length of most recent quit attempt among current smokers, and total length of time quit among former smokers were assessed and used to recreate the quitting continuum model. While current smoking rates were significantly higher among African Americans compared with non-Hispanic Whites across all years, cigarette consumption rates were lower among African Americans in all years. There were significant increases in the proportion of former smokers who had been quit for at least 12 months from 1999 (African Americans, 26.8% ± 5.5%; non-Hispanic Whites, 36.8% ± 1.6%) to 2008 (African Americans, 43.6% ± 4.1%; non-Hispanic Whites, 57.4% ± 2.9%). The proportion of African American former smokers in each CTS year was significantly lower than that of non-Hispanic Whites. Despite positive progression along the quitting continuum for both African American and non-Hispanic White smokers, the overall distribution was less favorable for African Americans. The lower smoking consumption levels among African Americans, combined with the lower rates of successful smoking cessation, suggest that cigarette addiction and the quitting process may be different for African American smokers. © 2015 Society for Public Health Education.

Review: Metabolic Syndrome in Black South African Women

PubMed Central

Gradidge, Philippe Jean-Luc; Crowther, Nigel J.

2017-01-01

The prevalence of metabolic syndrome is increasing in African populations, and is particularly high in Black South African women (42%) vs women in the United Kingdom (23%) and the United States of America (36%). This population group is also known to have the highest prevalence of obesity in the sub-Saharan African region (42%), and consequently, a high risk of non-communicable diseases. In this article, we discuss factors (abdominal subcutaneous fat, visceral fat, lean mass, adiponectin, leptin, vitamin D, smoking and menopausal status) that have been investigated for their possible association with metabolic syndrome in African women, and discuss some recommendations for management of the syndrome. In particular, the infrastructural development of HIV/AIDS clinics in South Africa provides an ideal integrated platform to cater to the treatment needs of patients with multiple chronic morbidities. PMID:28439190

Comparison of knowledge and attitudes toward cancer among African Americans

PubMed Central

Thurman, Natalie; Ragin, Camille; Heron, Dwight E; Alford, Renae J; Andraos-Selim, Cecile; Bondzi, Cornelius; Butcher, Jamila A; Coleman, Jamison C; Glass, Charity; Klewien, Barbara; Minor, Aerie T; Williams, Diana J; Taioli, Emanuela

2009-01-01

Background It has been noted that the African American population in the U.S. bears disproportionately higher cancer morbidity and mortality rates than any racial and ethnic group for most major cancers. Many studies also document that decreased longevity is associated with low educational attainment and other markers of low socioeconomic status (SES), both of which are prevalent in African American communities across the nation. Evidence suggests that this phenomenon may be due to attitudes that reflect a lack of knowledge surrounding facts about cancer awareness and prevention. This study was designed to yield data concerning the general population's attitudes toward cancer, taking into consideration racial and/or socioeconomic differences in the population studied. Results Two hundred and fifteen subjects participated in the survey, of which 74% (159/215) defined themselves as African-American, 20% were White, and 6% were of other races. While only 38% of the study population was able to identify at least 5 risk factors associated with cancer, a lower proportion of African Americans identified at least 5 risk factors than whites (34% vs. 53%, p = 0.03). In addition, a slightly higher percentage of African Americans (10%) were not aware of the definition of a clinical trial when compared to whites (8%, p > 0.1). Of those aware of the definition of a clinical trial, African Americans were more reluctant to participate in clinical trials, with 53% answering no to participation compared to 15% of whites (p = 0.002). Conclusion When comparing results to a similar study conducted in 1981, a slight increase in cancer knowledge in the African American population was observed. Our results suggest that while knowledge of cancer facts has increased over the years amongst the general population, African Americans and lower income populations are still behind. This may affect their risk profile and cancer early detection. PMID:19208206

Stigma, lack of knowledge and prevalence maintain HIV risk among Black Africans in New Zealand.

PubMed

Henrickson, Mark; Dickson, Nigel; Mhlanga, Fungai; Ludlam, Adrian

2015-02-01

The AfricaNZ Health project aimed explore HIV risks in Black African communities in NZ with a view to informing HIV infection prevention and health promotion programs. AfricaNZ Health was completed in two phases. The first developed desk estimates of the resident Black African population in New Zealand, and Africans living with HIV. The second comprised two arms: an anonymous survey administered at African community events and a series of focus groups around the country. High levels of knowledge and positive attitudes about HIV were more often found in older than younger age groups. Condom use was higher in the younger group than in older age groups. Traditional attitudes still inform some beliefs about HIV. Stigma about HIV and anyone at risk for HIV remains very high among Africans. Western sexual identity constructs are not meaningful. A culturally informed strategy for risk and stigma reduction is urgently needed. The existing prevention and care infrastructure, informed by MSM experiences, must address increased risk to Black African new settlers, but this is not a reason to discriminate or further stigmatise an already vulnerable population. © 2014 Public Health Association of Australia.

Cardiovascular disease and ABO blood-groups in Africans. Are blood-group A individuals at higher risk of ischemic disease?: A pilot study.

PubMed

Ba, Djibril Marie; Sow, Mamadou Saidou; Diack, Aminata; Dia, Khadidiatou; Mboup, Mouhamed Cherif; Fall, Pape Diadie; Fall, Moussa Daouda

2017-12-01

, there was no statistical difference between blood group A and non-A in myocardial infarction (MI) incidence ( p  = 0.09, 95% CI = 0.99-2.83) but a statistically significant difference between blood group A and non-A in stroke and coronary artery disease (CAD) incidence (p < 0.0001, 95% CI = 1.80-3.37 and p  < 0.0001 95% CI = 1.82-3.41 respectively) was found.The incidence of ID in men was significantly higher in blood group A (95% CI = 2.26-4.57, p  < 0.0001) compared with non-A group, while there was no statistically significant difference in women ( p  = 0.35). However, an overall effect was detected to be statistically significant regardless of gender ( p  < 0.0001). Our study suggests an association between blood group A and ID in sub-Sahara Africans.In African countries, where most of health facilities are understaffed, more rigorous studies with a larger population are needed to give a high level of evidence to confirm this association in order to establish the need to be more aggressive in risk factor control in these individuals.

Noonan syndrome in diverse populations.

PubMed

Kruszka, Paul; Porras, Antonio R; Addissie, Yonit A; Moresco, Angélica; Medrano, Sofia; Mok, Gary T K; Leung, Gordon K C; Tekendo-Ngongang, Cedrik; Uwineza, Annette; Thong, Meow-Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N; Sokunbi, Ogochukwu J; Kalu, Nnenna; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Vincent, Lisa M; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M; Patil, Siddaramappa J; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Klein-Zighelboim, Eva; Gallardo Jugo, Bertha E; Chávez Pastor, Miguel; Abarca-Barriga, Hugo H; Skinner, Steven A; Prijoles, Eloise J; Badoe, Eben; Gill, Ashleigh D; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S; Ferreira, Carlos R; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel; Boonchooduang, Nonglak; Tanpaiboon, Pranoot; Richieri-Costa, Antonio; Wonkam, Ambroise; Chung, Brian H Y; Stevenson, Roger E; Summar, Marshall; Mandal, Kausik; Phadke, Shubha R; Obregon, María G; Linguraru, Marius G; Muenke, Maximilian

2017-09-01

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world. © 2017 Wiley Periodicals, Inc.

Differential Natural Selection of Human Zinc Transporter Genes between African and Non-African Populations

PubMed Central

Zhang, Chao; Li, Jing; Tian, Lei; Lu, Dongsheng; Yuan, Kai; Yuan, Yuan; Xu, Shuhua

2015-01-01

Zinc transporters play important roles in all eukaryotes by maintaining the rational zinc concentration in cells. However, the diversity of zinc transporter genes (ZTGs) remains poorly studied. Here, we investigated the genetic diversity of 24 human ZTGs based on the 1000 Genomes data. Some ZTGs show small population differences, such as SLC30A6 with a weighted-average FST (WA-FST = 0.015), while other ZTGs exhibit considerably large population differences, such as SLC30A9 (WA-FST = 0.284). Overall, ZTGs harbor many more highly population-differentiated variants compared with random genes. Intriguingly, we found that SLC30A9 was underlying natural selection in both East Asians (EAS) and Africans (AFR) but in different directions. Notably, a non-synonymous variant (rs1047626) in SLC30A9 is almost fixed with 96.4% A in EAS and 92% G in AFR, respectively. Consequently, there are two different functional haplotypes exhibiting dominant abundance in AFR and EAS, respectively. Furthermore, a strong correlation was observed between the haplotype frequencies of SLC30A9 and distributions of zinc contents in soils or crops. We speculate that the genetic differentiation of ZTGs could directly contribute to population heterogeneity in zinc transporting capabilities and local adaptations of human populations in regard to the local zinc state or diets, which have both evolutionary and medical implications. PMID:25927708

Cultural In-Group Advantage: Emotion Recognition in African American and European American Faces and Voices

ERIC Educational Resources Information Center

Wickline, Virginia B.; Bailey, Wendy; Nowicki, Stephen

2009-01-01

The authors explored whether there were in-group advantages in emotion recognition of faces and voices by culture or geographic region. Participants were 72 African American students (33 men, 39 women), 102 European American students (30 men, 72 women), 30 African international students (16 men, 14 women), and 30 European international students…

The Play Factor: Effect of Social Skills Group Play Therapy on Adolescent African-American Males

ERIC Educational Resources Information Center

Earls, Melissa K.

2009-01-01

The purpose of this study was to examine the effectiveness of Social Skills Group Play Therapy on remedying the social skills deficits of adolescent African-American males. Additionally, the study investigated whether age and grade level impacted the outcome of the intervention. The participants were adolescent African-American males ages 10 to…

The incidence and body site of skin cancers in the population groups of South Africa.

PubMed

Norval, Mary; Kellett, Patricia; Wright, Caradee Yael

2014-10-01

Data regarding basal cell carcinoma (BCC), squamous cell carcinoma of the skin (SSCC) and cutaneous melanoma (CM) in multiracial populations are sparse. Here the incidence and body site of these tumours in the South African population in 2000-2004 were analysed. Annual age-standardized incidences and body sites of BCC, SSCC and CM in black, coloured, Asian and white groups were obtained from histological confirmed cases, reported to the National Cancer Registry. Highest annual incidences of BCC, SSCC and CM occurred in the white group, followed by coloured, then Asian and then black. BCCs and SSCCs were about twice as common in males than females. CM was the least frequent skin tumour, and BCC the most frequent, except in black people. The head was the commonest body site for SSCC and BCC in all groups and both sexes, whereas the lower limb was the predominant site for CM in black people. Mean age at diagnosis was generally mid-50s for CM, and mid-60s for BCC and SSCC. In South Africa, differences in reported incidence rates and body sites of skin tumours by population group and sex occur. Host characteristics, particularly skin phototype, and personal behaviour are likely to affect the risk of these cancers. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Low C-Reactive Protein Levels in a Traditional West-African Population Living in a Malaria Endemic Area

PubMed Central

Eriksson, Ulrika K.; van Bodegom, David; May, Linda; Boef, Anna G. C.; Westendorp, Rudi G. J.

2013-01-01

Background C-reactive protein (CRP) levels are reported to be elevated in populations of African descent living in affluent environments compared to populations of European ancestry. However, the natural history of CRP levels in populations of African descent living under adverse environments remains largely unknown. Methods CRP levels were measured with a high sensitivity assay in 624 apparently healthy individuals who contributed blood as part of a study on innate immune responsiveness in a traditional Ghanaian population living under adverse environmental conditions in a malaria endemic area. As a comparison, we included CRP measurements from 2931 apparently healthy individuals from the Dutch population that were included in the same batch of CRP analyses. Associations between CRP and body mass index (BMI), immune responsiveness, and P. falciparum parasitaemia were investigated. Results In an age- and sex-adjusted model, CRP levels were 0.54 mg/L lower in the Ghanaian compared to the Dutch cohort (1.52 vs. 0.98 mg/L, p<0.001). When accounting for the substantially higher average BMI in the Dutch compared to the Ghanaians (25.6 vs. 18.4 kg/m2) the difference in CRP levels disappeared. BMI associated positively with CRP in the Dutch but not in the Ghanaians. In individuals with an acute phase response, CRP levels were higher in the Ghanaian compared to the Dutch cohort (24.6 vs. 17.3 mg/L, p = 0.04). Levels of CRP were positively related to immune responsiveness and P. falciparum parasitaemia (all p<0.001) among Ghanaians. Conclusions Our study demonstrates that West-Africans do not exhibit an inherently high inflammatory state. The role of genes, environment and gene-environment interaction in explaining reports of elevated CRP levels in populations of African ancestry when compared to other ethnicities living in affluent environments thus merits further investigation. PMID:23922912

Low C-reactive protein levels in a traditional West-African population living in a malaria endemic area.

PubMed

Eriksson, Ulrika K; van Bodegom, David; May, Linda; Boef, Anna G C; Westendorp, Rudi G J

2013-01-01

C-reactive protein (CRP) levels are reported to be elevated in populations of African descent living in affluent environments compared to populations of European ancestry. However, the natural history of CRP levels in populations of African descent living under adverse environments remains largely unknown. CRP levels were measured with a high sensitivity assay in 624 apparently healthy individuals who contributed blood as part of a study on innate immune responsiveness in a traditional Ghanaian population living under adverse environmental conditions in a malaria endemic area. As a comparison, we included CRP measurements from 2931 apparently healthy individuals from the Dutch population that were included in the same batch of CRP analyses. Associations between CRP and body mass index (BMI), immune responsiveness, and P. falciparum parasitaemia were investigated. In an age- and sex-adjusted model, CRP levels were 0.54 mg/L lower in the Ghanaian compared to the Dutch cohort (1.52 vs. 0.98 mg/L, p<0.001). When accounting for the substantially higher average BMI in the Dutch compared to the Ghanaians (25.6 vs. 18.4 kg/m(2)) the difference in CRP levels disappeared. BMI associated positively with CRP in the Dutch but not in the Ghanaians. In individuals with an acute phase response, CRP levels were higher in the Ghanaian compared to the Dutch cohort (24.6 vs. 17.3 mg/L, p = 0.04). Levels of CRP were positively related to immune responsiveness and P. falciparum parasitaemia (all p<0.001) among Ghanaians. Our study demonstrates that West-Africans do not exhibit an inherently high inflammatory state. The role of genes, environment and gene-environment interaction in explaining reports of elevated CRP levels in populations of African ancestry when compared to other ethnicities living in affluent environments thus merits further investigation.

Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry.

PubMed

Yeh, E; Kimura, L; Errera, F I V; Angeli, C B; Mingroni-Netto, R C; Silva, M E R; Canani, L H S; Passos-Bueno, M R

2008-06-01

Association studies between ADIPOR1 genetic variants and predisposition to type 2 diabetes (DM2) have provided contradictory results. We determined if two single nucleotide polymorphisms (SNP c.-8503G>A and SNP c.10225C>G) in regulatory regions of ADIPOR1 in 567 Brazilian individuals of European (EA; N = 443) or African (AfA; N = 124) ancestry from rural (quilombo remnants; N = 439) and urban (N = 567) areas. We detected a significant effect of ethnicity on the distribution of the allelic frequencies of both SNPs in these populations (EA: -8503A = 0.27; AfA: -8503A = 0.16; P = 0.001 and EA: 10225G = 0.35; AfA: 10225G = 0.51; P < 0.001). Neither of the polymorphisms were associated with DM2 in the case-control study in EA (SNP c.-8503G>A: DM2 group -8503A = 0.26; control group -8503A = 0.30; P = 0.14/SNP 10225C>G: DM2 group 10225G = 0.37; control group 10225G = 0.32; P = 0.40) and AfA populations (SNP c.-8503G>A: DM2 group -8503A = 0.16; control group -8503A = 0.15; P = 0.34/SNP 10225C>G: DM2 group 10225G = 0.51; control group 10225G = 0.52; P = 0.50). Similarly, none of the polymorphisms were associated with metabolic/anthropometric risk factors for DM2 in any of the three populations, except for HDL cholesterol, which was significantly higher in AfA heterozygotes (GC = 53.75 +/- 17.26 mg/dL) than in homozygotes. We conclude that ADIPOR1 polymorphisms are unlikely to be major risk factors for DM2 or for metabolic/anthropometric measurements that represent risk factors for DM2 in populations of European and African ancestries.

Large-scale mitochondrial DNA analysis of native honey bee Apis mellifera populations reveals a new African subgroup private to the South West Indian Ocean islands.

PubMed

Techer, Maéva Angélique; Clémencet, Johanna; Simiand, Christophe; Preeaduth, Sookar; Azali, Hamza Abdou; Reynaud, Bernard; Hélène, Delatte

2017-06-02

The South West Indian Ocean (SWIO) archipelagos and Madagascar constitute a hotspot of biodiversity with a high rate of endemism. In this area, the endemic subspecies A. m. unicolor has been described in Madagascar. It belongs to the African lineage, one of the four described evolutionary lineages in honey bees. Despite a long beekeeping tradition and several recorded European introductions, few studies have been carried out on the diversity and proportion of honey bee subspecies. In order to identify and define which evolutionary lineages and potential sub-lineages are present in the SWIO, the COI-COII intergenic region and the ND2 gene of the mtDNA were sequenced in honey bee colonies from three archipelagos. An extensive sampling (n = 1184 colonies) was done in the Mascarene (La Réunion, Mauritius, Rodrigues), Seychelles (Mahé, Praslin, La Digue) and Comoros (Grande Comore, Mohéli, Anjouan, Mayotte) archipelagos. Islands genetic diversity was compared to newly sampled populations from Madagascar, continental African and European populations. African lineage haplotypes were found in all islands (except for Rodrigues). Madagascar, Comoros and Seychelles had 100% of A lineage, 95.5% in La Réunion and 56.1% in Mauritius. Among all African colonies detected in the SWIO, 98.1% (n = 633) of COI-COII haplotypes described the presence of the subspecies A. M. unicolor. Both genetic markers revealed i) a new private A I mitochondrial group shared by the SWIO archipelagos and Madagascar distant from continental populations; ii) the private African haplotypes for each island suggested diversity radiation in the archipelagos; iii) the detection of the Comoros archipelago as a possible contact area between insular and continental African populations. The exotic European C and M lineages were only detected in the Mascarene archipelago, but striking differences of proportion were observed among islands. Merely 4.6% of European colonies were found in La Réunion whereas

African Ancestry Is Associated with Asthma Risk in African Americans

PubMed Central

Pino-Yanes, María; Wade, Michael S.; Pérez-Méndez, Lina; Kittles, Rick A.; Wang, Deli; Papaiahgari, Srinivas; Ford, Jean G.; Kumar, Rajesh; Garcia, Joe G. N.

2012-01-01

Background Asthma is a common complex condition with clear racial and ethnic differences in both prevalence and severity. Asthma consultation rates, mortality, and severe symptoms are greatly increased in African descent populations of developed countries. African ancestry has been associated with asthma, total serum IgE and lower pulmonary function in African-admixed populations. To replicate previous findings, here we aimed to examine whether African ancestry was associated with asthma susceptibility in African Americans. In addition, we examined for the first time whether African ancestry was associated with asthma exacerbations. Methodology/Principal Findings After filtering for self-reported ancestry and genotype data quality, samples from 1,117 self-reported African-American individuals from New York and Baltimore (394 cases, 481 controls), and Chicago (321 cases followed for asthma exacerbations) were analyzed. Genetic ancestry was estimated based on ancestry informative markers (AIMs) selected for being highly divergent among European and West African populations (95 AIMs for New York and Baltimore, and 66 independent AIMs for Chicago). Among case-control samples, the mean African ancestry was significantly higher in asthmatics than in non-asthmatics (82.0±14.0% vs. 77.8±18.1%, mean difference 4.2% [95% confidence interval (CI):2.0–6.4], p<0.0001). This association remained significant after adjusting for potential confounders (odds ratio: 4.55, 95% CI: 1.69–12.29, p = 0.003). African ancestry failed to show an association with asthma exacerbations (p = 0.965) using a model based on longitudinal data of the number of exacerbations followed over 1.5 years. Conclusions/Significance These data replicate previous findings indicating that African ancestry constitutes a risk factor for asthma and suggest that elevated asthma rates in African Americans can be partially attributed to African genetic ancestry. PMID:22235241

Challenges in reducing group B Streptococcus disease in African settings.

PubMed

Nishihara, Yo; Dangor, Ziyaad; French, Neil; Madhi, Shabir; Heyderman, Robert

2017-01-01

Group B Streptococcus (GBS) is a leading cause of neonatal sepsis and meningitis in high-income settings and is associated with high rates of neonatal mortality and morbidity. There is now increasing evidence to suggest that there is a high GBS disease burden in resource-limited countries, and it is therefore critically important to identify suitable and practical preventive strategies. In Europe and North America, intrapartum antibiotic prophylaxis (IAP) has led to a dramatic reduction of early-onset GBS disease. However, the methods for identifying pregnant women who should receive IAP and how to reduce late-onset GBS disease are not without controversy and are challenging for most sub-Saharan African countries. GBS vaccines are approaching phase III trials but are still under development. This review aims to explore the current evidence related to strategies for reducing invasive GBS disease in an African setting, the development of a GBS vaccine and whether preventative measures against GBS disease can be practically implemented. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry

PubMed Central

Kessler, Michael D.; Yerges-Armstrong, Laura; Taub, Margaret A.; Shetty, Amol C.; Maloney, Kristin; Jeng, Linda Jo Bone; Ruczinski, Ingo; Levin, Albert M.; Williams, L. Keoki; Beaty, Terri H.; Mathias, Rasika A.; Barnes, Kathleen C.; Boorgula, Meher Preethi; Campbell, Monica; Chavan, Sameer; Ford, Jean G.; Foster, Cassandra; Gao, Li; Hansel, Nadia N.; Horowitz, Edward; Huang, Lili; Ortiz, Romina; Potee, Joseph; Rafaels, Nicholas; Scott, Alan F.; Vergara, Candelaria; Gao, Jingjing; Hu, Yijuan; Johnston, Henry Richard; Qin, Zhaohui S.; Padhukasahasram, Badri; Dunston, Georgia M.; Faruque, Mezbah U.; Kenny, Eimear E.; Gietzen, Kimberly; Hansen, Mark; Genuario, Rob; Bullis, Dave; Lawley, Cindy; Deshpande, Aniket; Grus, Wendy E.; Locke, Devin P.; Foreman, Marilyn G.; Avila, Pedro C.; Grammer, Leslie; Kim, Kwang-YounA; Kumar, Rajesh; Schleimer, Robert; Bustamante, Carlos; De La Vega, Francisco M.; Gignoux, Chris R.; Shringarpure, Suyash S.; Musharoff, Shaila; Wojcik, Genevieve; Burchard, Esteban G.; Eng, Celeste; Gourraud, Pierre-Antoine; Hernandez, Ryan D.; Lizee, Antoine; Pino-Yanes, Maria; Torgerson, Dara G.; Szpiech, Zachary A.; Torres, Raul; Nicolae, Dan L.; Ober, Carole; Olopade, Christopher O.; Olopade, Olufunmilayo; Oluwole, Oluwafemi; Arinola, Ganiyu; Song, Wei; Abecasis, Goncalo; Correa, Adolfo; Musani, Solomon; Wilson, James G.; Lange, Leslie A.; Akey, Joshua; Bamshad, Michael; Chong, Jessica; Fu, Wenqing; Nickerson, Deborah; Reiner, Alexander; Hartert, Tina; Ware, Lorraine B.; Bleecker, Eugene; Meyers, Deborah; Ortega, Victor E.; Pissamai, Maul R. N.; Trevor, Maul R. N.; Watson, Harold; Araujo, Maria Ilma; Oliveira, Ricardo Riccio; Caraballo, Luis; Marrugo, Javier; Martinez, Beatriz; Meza, Catherine; Ayestas, Gerardo; Herrera-Paz, Edwin Francisco; Landaverde-Torres, Pamela; Erazo, Said Omar Leiva; Martinez, Rosella; Mayorga, Alvaro; Mayorga, Luis F.; Mejia-Mejia, Delmy-Aracely; Ramos, Hector; Saenz, Allan; Varela, Gloria; Vasquez, Olga Marina; Ferguson, Trevor; Knight-Madden, Jennifer; Samms-Vaughan, Maureen; Wilks, Rainford J.; Adegnika, Akim; Ateba-Ngoa, Ulysse; Yazdanbakhsh, Maria; O'Connor, Timothy D.

2016-01-01

To characterize the extent and impact of ancestry-related biases in precision genomic medicine, we use 642 whole-genome sequences from the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) project to evaluate typical filters and databases. We find significant correlations between estimated African ancestry proportions and the number of variants per individual in all variant classification sets but one. The source of these correlations is highlighted in more detail by looking at the interaction between filtering criteria and the ClinVar and Human Gene Mutation databases. ClinVar's correlation, representing African ancestry-related bias, has changed over time amidst monthly updates, with the most extreme switch happening between March and April of 2014 (r=0.733 to r=−0.683). We identify 68 SNPs as the major drivers of this change in correlation. As long as ancestry-related bias when using these clinical databases is minimally recognized, the genetics community will face challenges with implementation, interpretation and cost-effectiveness when treating minority populations. PMID:27725664

Lower Lateral Cartilages: An Anatomic and Morphological Study in Noses of Black Southern Africans.

PubMed

McIntosh, Cameron N D; van Wyk, F Carl; Joubert, Gina; Seedat, Riaz Y

2017-03-01

The anatomy of the nose of different ethnic groups has been widely researched in order to facilitate a better understanding of the individual nose as a foundation for improving surgical outcomes. The only anatomical research of the lower lateral cartilages (LLCs) available to the surgeon working with an African patient is to extrapolate data from studies already published on African Americans. The aim of this descriptive cadaveric study was to assess the normal anatomy of the LLCs in noses of Black South Africans and compare this to data from studies on noses from Caucasian, Asian, Korean, and African-American populations. Ninety lower lateral cartilages of 45 cadavers of Black South Africans who did not have previous surgery or trauma to the nose were dissected. The morphological shapes and 12 standard anatomical measurements were recorded. The results were analyzed and compared to data in the literature from studies on lower lateral cartilages of Caucasian, Asian, Korean, and African-American populations. A statistically significant difference was found in terms of overall cartilage dimensions, distance from nasal rim, and morphological shapes, compared to all previously studied groups, including the African-American population. There were significant differences in cartilage dimensions between males and females. This translates to clinically significant data that is useful during reconstructive and aesthetic nasal surgery on patients with a Southern African background. This study sets norms for alar cartilages in Black Southern Africans.

Changes in cardiovascular disease knowledge and behavior in a low-education population of African-American and white adults.

PubMed

Smith, N L; Croft, J B; Heath, G W; Cokkinides, V

1996-01-01

Racial differences in secular changes in cardiovascular disease risk factor knowledge and behaviors were assessed among adults with low levels of education throughout a community-wide cardiovascular disease prevention program. Four independent cross-sectional telephone surveys were conducted with the random-digit-dialing technique in 1987, 1988, 1989, and 1991 in a biracial South Carolina community. Community-wide cardiovascular disease intervention programs were initiated in 1988 and continued through 1990. Changes in the prevalence of cardiovascular risk factor knowledge, dietary fat intake, leisure-time physical activity, smoking, and cholesterol screening behavior were compared between African-American and white respondents in a population subset with less than 12 years of education using analysis of covariance regression techniques. Mean intake of high fat foods was lower in 1991 than in 1987 among both white and African-American respondents; the trend for lower mean intake began in 1989 among African-American adults. Prevalence of the correct exercise knowledge was higher in 1988 than in 1987 for both groups, but this trend was maintained only among white respondents. However, prevalence of leisure-time physical activity did not change significantly between 1987 and 1991. Prevalence of cholesterol level knowledge and screening behavior increased over time among both groups; however, greater increasing trends between 1987 and 1991 were observed among white adults. Favorable secular changes in fat intake, exercise knowledge, cholesterol level knowledge, and cholesterol screening behavior were observed among both race groups during a time period that coincided with community-wide intervention efforts and messages. Greater changes in most of these behaviors and knowledge were observed among white adults suggesting that health behavior messages may not have reached all segments of this community.

Differences in HIV natural history among African and non-African seroconverters in Europe and seroconverters in sub-Saharan Africa.

PubMed

Pantazis, Nikos; Morrison, Charles; Amornkul, Pauli N; Lewden, Charlotte; Salata, Robert A; Minga, Albert; Chipato, Tsungai; Jaffe, Harold; Lakhi, Shabir; Karita, Etienne; Porter, Kholoud; Meyer, Laurence; Touloumi, Giota

2012-01-01

It is unknown whether HIV treatment guidelines, based on resource-rich country cohorts, are applicable to African populations. We estimated CD4 cell loss in ART-naïve, AIDS-free individuals using mixed models allowing for random intercept and slope, and time from seroconversion to clinical AIDS, death and antiretroviral therapy (ART) initiation by survival methods. Using CASCADE data from 20 European and 3 sub-Saharan African (SSA) cohorts of heterosexually-infected individuals, aged ≥15 years, infected ≥2000, we compared estimates between non-African Europeans, Africans in Europe, and Africans in SSA. Of 1,959 (913 non-Africans, 302 Europeans-African origin, 744 SSA), two-thirds were female; median age at seroconversion was 31 years. Individuals in SSA progressed faster to clinical AIDS but not to death or non-TB AIDS. They also initiated ART later than Europeans and at lower CD4 cell counts. In adjusted models, Africans (especially from Europe) had lower CD4 counts at seroconversion and slower CD4 decline than non-African Europeans. Median (95% CI) CD4 count at seroconversion for a 15-29 year old woman was 607 (588-627) (non-African European), 469 (442-497) (European-African origin) and 570 (551-589) (SSA) cells/µL with respective CD4 decline during the first 4 years of 259 (228-289), 155 (110-200), and 199 (174-224) cells/µL (p<0.01). Despite differences in CD4 cell count evolution, death and non-TB AIDS rates were similar across study groups. It is therefore prudent to apply current ART guidelines from resource-rich countries to African populations.

Spectrum of MTHFR gene SNPs C677T and A1298C: a study among 23 population groups of India.

PubMed

Saraswathy, Kallur Nava; Asghar, Mohammad; Samtani, Ratika; Murry, Benrithung; Mondal, Prakash Ranjan; Ghosh, Pradeep Kumar; Sachdeva, Mohinder Pal

2012-04-01

Elevated homocysteine is a risk factor for many complex disorders. The role of methylenetetrahydrofolate reductase (MTHFR) gene in methylation of homocysteine makes it one of the most important candidate genes for these disorders. Considering the heterogeneity in its distribution in world populations, we screened MTHFR C677T and A1298C single nucleotide polymorphisms in a total of 23 Indian caste, tribal and religious population groups from five geographical regions of India and belonging to four major linguistic groups. The frequencies of MTHFR 677T and 1298C alleles were found to be 10.08 and 20.66%, respectively. MTHFR homozygous genotype 677TT was absent in eight population groups and homozygous 1298CC was absent in two population groups. 677T allele was found to be highest among north Indian populations with Indo-European tongue and 1298C was high among Dravidian-speaking tribes of east India and south India. The less common mutant haplotype 677T-1298C was observed among seven population groups and overall the frequency of this haplotype was 0.008, which is similar to that of African populations. cis configuration of 677T and 1298C was 0.94%. However, we could not find any individual with four mutant alleles which supports the earlier observation that presence of more than two mutant alleles may decrease the viability of foetus and possibly be a selective disadvantage in the population.

Colorectal Cancer in Young African Americans: Is it time to revisit guidelines and prevention?

PubMed Central

Ashktorab, Hassan; Vilmenay, Kimberly; Brim, Hassan; Laiyemo, Adeyinka O; Kibreab, Angesom; Nouraie, Mehdi

2016-01-01

Previous studies have suggested an increase in the incidence of colorectal cancer (CRC) in young adults (younger than 50 years). Among older people, African Americans have disproportionally higher CRC incidence and mortality. It is unclear if this CRC disparity also applies to CRC diagnosed among young people Methods Using the Surveillance, Epidemiology, and End Results (SEER) cancer registries, a population-based cancer registry covering 25.6% of the United States’ African American population, we identified patients diagnosed with CRC between the years of 2000-2012. The age-adjusted rates for non-Hispanic whites (NHW), African Americans and Asian Pacific Islanders (API) were calculated for the age categories 20-24, 25-29, 30-34, 35-39, and 40-44. Results CRC age-adjusted incidence is increasing among all three racial groups and was higher for African Americans compared to NHW and API across all years 2000-2012 (P<0.001). Stage IV CRC was higher in African Americans compared with NHW while there was higher stage III CRC in API compared with NHWs. Conclusion CRC incidence is increasing among the young in all racial groups under study. This increase in frequency of CRC is true among young African American adults who display highly advanced tumors in comparison to other races. While the present attention to screening seems to have decreased CRC prevalence in individuals older than 50, special attention needs to be addressed to young African American adults as well, to counter the observed trend, as they have the highest incidence of CRC among young population groups by race/ethnicity. PMID:27278956

Including the Group Quarters Population in the US Synthesized Population Database

PubMed Central

Chasteen, Bernadette M.; Wheaton, William D.; Cooley, Philip C.; Ganapathi, Laxminarayana; Wagener, Diane K.

2011-01-01

In 2005, RTI International researchers developed methods to generate synthesized population data on US households for the US Synthesized Population Database. These data are used in agent-based modeling, which simulates large-scale social networks to test how changes in the behaviors of individuals affect the overall network. Group quarters are residences where individuals live in close proximity and interact frequently. Although the Synthesized Population Database represents the population living in households, data for the nation’s group quarters residents are not easily quantified because of US Census Bureau reporting methods designed to protect individuals’ privacy. Including group quarters population data can be an important factor in agent-based modeling because the number of residents and the frequency of their interactions are variables that directly affect modeling results. Particularly with infectious disease modeling, the increased frequency of agent interaction may increase the probability of infectious disease transmission between individuals and the probability of disease outbreaks. This report reviews our methods to synthesize data on group quarters residents to match US Census Bureau data. Our goal in developing the Group Quarters Population Database was to enable its use with RTI’s US Synthesized Population Database in the Modeling of Infectious Diseases Agent Study. PMID:21841972

Attitudes Toward Breast Cancer Genetic Testing in Five Special Population Groups

PubMed Central

Ramirez, Amelie G.; Chalela, Patricia; Gallion, Kipling J.; Muñoz, Edgar; Holden, Alan E.; Burhansstipanov, Linda; Smith, Selina A.; Wong-Kim, Evaon; Wyatt, Stephen W.; Suarez, Lucina

2016-01-01

Purpose This study examined interest in and attitudes toward genetic testing in 5 different population groups. Methods The survey included African American, Asian American, Latina, Native American, and Appalachian women with varying familial histories of breast cancer. A total of 49 women were interviewed in person. Descriptive and nonparametric statistical techniques were used to assess ethnic group differences. Results Overall, interest in testing was high. All groups endorsed more benefits than risks. There were group differences regarding endorsement of specific benefits and risks: testing to “follow doctor recommendations” (p=0.017), “concern for effects on family” (p=0.044), “distrust of modern medicine” (p=0.036), “cost” (p=0.025), and “concerns about communication of results to others” (p=0.032). There was a significant inverse relationship between interest and genetic testing cost (p<0.050), with the exception of Latinas, who showed the highest level of interest regardless of increasing cost. Conclusion Cost may be an important barrier to obtaining genetic testing services, and participants would benefit by genetic counseling that incorporates the unique cultural values and beliefs of each group to create an individualized, culturally competent program. Further research about attitudes toward genetic testing is needed among Asian Americans, Native Americans, and Appalachians for whom data are severely lacking. Future study of the different Latina perceptions toward genetic testing are encouraged. PMID:26855846

Attitudes Toward Breast Cancer Genetic Testing in Five Special Population Groups.

PubMed

Ramirez, Amelie G; Chalela, Patricia; Gallion, Kipling J; Muñoz, Edgar; Holden, Alan E; Burhansstipanov, Linda; Smith, Selina A; Wong-Kim, Evaon; Wyatt, Stephen W; Suarez, Lucina

2015-01-01

This study examined interest in and attitudes toward genetic testing in 5 different population groups. The survey included African American, Asian American, Latina, Native American, and Appalachian women with varying familial histories of breast cancer. A total of 49 women were interviewed in person. Descriptive and nonparametric statistical techniques were used to assess ethnic group differences. Overall, interest in testing was high. All groups endorsed more benefits than risks. There were group differences regarding endorsement of specific benefits and risks: testing to "follow doctor recommendations" (p=0.017), "concern for effects on family" (p=0.044), "distrust of modern medicine" (p=0.036), "cost" (p=0.025), and "concerns about communication of results to others" (p=0.032). There was a significant inverse relationship between interest and genetic testing cost (p<0.050), with the exception of Latinas, who showed the highest level of interest regardless of increasing cost. Cost may be an important barrier to obtaining genetic testing services, and participants would benefit by genetic counseling that incorporates the unique cultural values and beliefs of each group to create an individualized, culturally competent program. Further research about attitudes toward genetic testing is needed among Asian Americans, Native Americans, and Appalachians for whom data are severely lacking. Future study of the different Latina perceptions toward genetic testing are encouraged.

Recruitment of a hidden population: African Americans with obsessive-compulsive disorder.

PubMed

Williams, Monnica T; Proetto, Dante; Casiano, Delane; Franklin, Martin E

2012-01-01

Obsessive-compulsive disorder (OCD) is a leading cause of disability worldwide, however for reasons that are poorly understood ethnic minority groups are not well represented in clinical research studies. Thus, although African Americans experience equivalent rates of OCD according to epidemiological surveys, the generalizability of findings from clinical trials remains unknown. Research designed to improve identification, assessment and treatment of OCD is an important public health priority. The purpose of this study is to report outreach methods used to recruit African American adults for participation in an OCD research study. A variety of methods were employed, including radio advertisements, public transportation advertising, community outreach, and online advertising. A total of 83 African American adult participants were recruited over a 9.5 month period at the University of Pennsylvania in Philadelphia, and given comprehensive psychiatric assessments. African Americans with OCD symptoms were reliably identified and assessed, for a total of 75 with lifetime OCD (4 past and 71 current diagnoses). There was variability in the success and cost effectiveness of study recruitment methods. Radio ads were the most expensive means of recruitment, newspaper ads accounted for the largest number of eligible participants, and no cost methods such as Craig's List and word of mouth were also effective. The authors conclude that, with focused efforts, there are many effective methods for recruiting African Americans with OCD. Guidelines for recruitment are discussed, with a focus on cultural considerations. Copyright © 2011 Elsevier Inc. All rights reserved.

Recruitment of a Hidden Population: African Americans with Obsessive-Compulsive Disorder

PubMed Central

Williams, Monnica T.; Proetto, Dante; Casiano, Delane; Franklin, Martin

2011-01-01

Obsessive-compulsive disorder (OCD) is a leading cause of disability worldwide, however for reasons that are poorly understood ethnic minority groups are not well represented in clinical research studies. Thus, although African Americans experience equivalent rates of OCD according to epidemiological surveys, the generalizability of findings from clinical trials remains unknown. Research designed to improve identification, assessment and treatment of OCD is an important public health priority. The purpose of this study is to report outreach methods used to recruit African American adults for participation in an OCD research study. A variety of methods were employed, including radio advertisements, public transportation advertising, community outreach, and online advertising. A total of 83 African American adult participants were recruited over a 9.5 month period at the University of Pennsylvania in Philadelphia, and given comprehensive psychiatric assessments. African Americans with OCD symptoms were reliably identified and assessed, for a total of 75 with lifetime OCD (4 past and 71 current diagnoses). There was variability in the success and cost effectiveness of study recruitment methods. Radio ads were the most expensive means of recruitment, newspaper ads accounted for the largest number of eligible participants, and no cost methods such as Craig’s List and word of mouth were also effective. The authors conclude that, with focused efforts, there are many effective methods for recruiting African Americans with OCD. Guidelines for recruitment are discussed, with a focus on cultural considerations. PMID:21983626

Pre-experience perceptions about telemedicine among African Americans and Latinos in South Central Los Angeles.

PubMed

George, Sheba M; Hamilton, Alison; Baker, Richard

2009-01-01

This study explores perceptions about telemedicine among urban underserved African American and Latino populations. Telemedicine has been advanced as a vehicle to increase access to specialty care among the urban underserved, yet little is known about its acceptability among these populations. We conducted 10 focus groups with African American and Latino participants (n = 87) in urban Los Angeles in order to explore perceptions about this novel type of care. We found that concerns about telemedicine varied between the two racial/ethnic groups. These findings have implications for important issues such as adoption of telemedicine, patient satisfaction, and doctor-patient interaction. It will be critical to consider perceptions of this healthcare innovation in the development of strategies to market and implement telemedicine among urban, underserved African American and Latino populations.

Diverse Hispanic population to become largest U.S. minority.

PubMed

1997-11-01

High immigration rates and relatively high birth rates have made Hispanics the second fastest growing minority population in the US. Only the Asian population is growing faster. In 1996, 11% of the US's population was Hispanic. However, Hispanic Americans are projected to outnumber African Americans by 2005, and by 2050, the Hispanic population in the US is projected to total approximately 100 million, 25% of the US population and the largest of the country's ethnic minorities. Latinos have the lowest rates of high school and college graduation of any major population group in the US. Since relevant data first became available in 1972 and until 1994, the median income of Latino families has remained below that of White families, but above that of African American families. The Hispanics' median family income of $24,000 in 1995 was below that of African American families. Puerto Rican and Mexican families are most likely to be poor, while Cubans are least likely. There is considerable diversity within the US's Hispanic population. For example, some Hispanics speak only Spanish, while others speak no Spanish at all. Hispanic Americans come from many countries and cultures, making the differences between and within the Hispanic ethnic groups sometimes as great as their similarities. Most Americans do not understand that Hispanics are an ethnic group, not a racial group.

Phenotypic and allelic distribution of the ABO and Rhesus (D) blood groups in the Cameroonian population.

PubMed

Ndoula, S T; Noubiap, J J N; Nansseu, J R N; Wonkam, A

2014-06-01

Data on blood group phenotypes are important for blood transfusion programs, for disease association and population genetics studies. This study aimed at reporting the phenotypic and allelic distribution of ABO and Rhesus (Rh) groups in various ethnolinguistic groups in the Cameroonians. We obtained ABO and Rhesus blood groups and self-identified ethnicity from 14,546 Cameroonian students. Ethnicity was classified in seven major ethnolinguistic groups: Afro-Asiatic, Nilo-Saharan, Niger-Kordofanian/West Atlantic, Niger-Kordofanian/Adamawa-Ubangui, Niger-Kordofanian/Benue-Congo/Bantu/Grassfield, Niger-Kordofanian/Benue-Congo/Bantu/Mbam and Niger-Kordofanian/Benue-Congo/Bantu/Equatorial. ABO allelic frequencies were determined using the Bernstein method. Differences in phenotypic distribution of blood groups were assessed using the chi-square test; a P value <0.05 being considered as statistically significant. The frequencies of the antigens of blood groups O, A, B and AB were 48.62%, 25.07%, 21.86% and 4.45%, respectively. Rhesus-positive was 96.32%. The allelic frequencies of O, A and B genes were 0.6978, 0.1605 and 0.1416, respectively. Phenotypic frequencies of the blood groups in the general study population and in the different ethnolinguistic groups were in agreement with Hardy-Weinberg equilibrium expectations (P > 0.05). The frequencies of O, A, and B blood phenotypes were significantly lower, respectively, in the Nilo-Saharan group (P = 0.009), the Niger-Kordofanian/Benue-Congo/Bantu groups (P = 0.021) and the Niger-Kordofanian/West-Atlantic group. AB blood group was most frequent in the Niger-Kordofanian/Adamawa-Ubangui group (P = 0.024). Our study provides the first data on ethnic distribution of ABO and Rhesus blood groups in the Cameroonian population and suggests that its general profile is similar to those of several sub-Saharan African populations. We found some significant differences in phenotypic distribution amongst major ethnolinguistic groups

Human leukocyte antigen class I (A, B and C) allele and haplotype variation in a South African Mixed ancestry population.

PubMed

Loubser, Shayne; Paximadis, Maria; Tiemessen, Caroline T

South Africa has a large (∼53million), ethnically diverse population (black African, Caucasian, Indian/Asian and Mixed ancestry) and a high disease burden (particularly HIV-1 and Mycobacterium tuberculosis). The Mixed ancestry population constitutes ∼9% of the total population and was established ∼365years ago in the Western Cape region through interracial mixing of black Africans, Europeans and Asians. Admixed populations present unique opportunities to identify genetic factors involved in disease susceptibility. Since HLA genes are important mediators of host immunity, we investigated HLA-A, -B and -C allele and haplotype diversity in 50 healthy, unrelated individuals recruited from the Mixed ancestry population. Copyright © 2017. Published by Elsevier Inc.

[Gene geography of Chile: regional distribution of American, European and African genetic contributions].

PubMed

Fuentes, Macarena; Pulgar, Iván; Gallo, Carla; Bortolini, María-Cátira; Canizales-Quinteros, Samuel; Bedoya, Gabriel; González-José, Rolando; Ruiz-Linares, Andrés; Rothhammer, Francisco

2014-03-01

The geographical distribution of genes plays a key role in genetic epidemiology. The Chilean population has three major stem groups (Native American, European and African). To estimate the regional rate of American, European and African admixture of the Chilean population. Forty single nucleotide polymorphisms (SNP´s) which exhibit substantially different frequencies between Amerindian populations (ancestry-informative markers or AIM´s), were genotyped in a sample of 923 Chilean participants to estimate individual genetic ancestry. The American, European and African individual average admixture estimates for the 15 Chilean Regions were relatively homogeneous and not statistically different. However, higher American components were found in northern and southern Chile and higher European components were found in central Chile. A negative correlation between African admixture and latitude was observed. On the average, American and European genetic contributions were similar and significantly higher than the African contribution. Weighted mean American, European and African genetic contributions of 44.34% ± 3 9%, 51.85% ± 5.44% and 3.81% ± 0.45%, were estimated. Fifty two percent of subjects harbor African genes. Individuals with Aymara and Mapuche surnames have an American admixture of 58.64% and 68.33%, respectively. Half of the Chilean population harbors African genes. Participants with Aymara and Mapuche surnames had a higher American genetic contribution than the general Chilean population. These results confirm the usefulness of surnames as a first approximation to determine genetic ancestry.

WIC peer counselors’ perceptions of breastfeeding in African-American women with lower incomes

PubMed Central

Gross, Tyra T.; Powell, Rachel; Anderson, Alex K.; Hall, Jori; Davis, Marsha; Hilyard, Karen

2015-01-01

Background African-American women have the lowest breastfeeding rates among all racial/ethnic groups in the United States. Peer counseling is an effective intervention in improving breastfeeding in this population. However, little is known on peer counselors’ perceptions of breastfeeding in African-American women. Objectives As part of a larger qualitative study, the goal of this study was to understand the contextual factors influencing breastfeeding decisions of low-income African-American women from the perspective of breastfeeding peer counselors (PCs). Methods Three focus groups were conducted with 23 PCs from the WIC program in a Southeastern state. All focus group discussions were audio-recorded, professionally transcribed, and analyzed using thematic analysis. Bronfenbrenner’s socio-ecological model was used to group categories into themes. Results Of the sample, 48% were African-American, 78.2% were married, 56.5% had some college education. Five main themes emerged to describe factors at multiple-levels influencing breastfeeding in PCs’ low-income African-American clients: Individual, Microsystem, Exosystem, Macrosystem, and Chronosystem. Novel findings included 1) having breast-pumps may give African-American women a “sense of security”, 2) cultural pressures to be a “strong black woman” can impede breastfeeding support, and 3) breastfeeding “generational gaps” have resulted from American “slavery” and when formula was “a sign of wealth”. Conclusions As PCs described, low-income African-American women breastfeeding decisions are impacted by numerous contextual factors. Findings from this study suggest a need to broaden public health approach to breastfeeding promotion in this population by moving beyond individual characteristics to examining historical and socio-cultural factors underlying breastfeeding practices in African-American women. PMID:25480019

A Review of Dietary Surveys in the Adult South African Population from 2000 to 2015

PubMed Central

Mchiza, Zandile J.; Steyn, Nelia P.; Hill, Jillian; Kruger, Annamarie; Schönfeldt, Hettie; Nel, Johanna; Wentzel-Viljoen, Edelweiss

2015-01-01

One serious concern of health policymakers in South Africa is the fact that there is no national data on the dietary intake of adult South Africans. The only national dietary study was done in children in 1999. Hence, it becomes difficult to plan intervention and strategies to combat malnutrition without national data on adults. The current review consequently assessed all dietary studies in adults from 2000 to June 2015 in an attempt to portray typical adult dietary intakes and to assess possible dietary deficiencies. Notable findings were that, in South Africa micronutrient deficiencies are still highly prevalent and energy intakes varied between very low intakes in informal settlements to very high intakes in urban centers. The most commonly deficient food groups observed are fruit and vegetables, and dairy. This has been attributed to high prices and lack of availability of these food groups in poorer urban areas and townships. In rural areas, access to healthy foods also remains a problem. A national nutrition monitoring system is recommended in order to identify dietary deficiencies in specific population groups. PMID:26404371

Genetic and environmental risk factors for rheumatoid arthritis in a UK African ancestry population: the GENRA case–control study

PubMed Central

Traylor, Matthew; Curtis, Charles; Patel, Hamel; Breen, Gerome; Hyuck Lee, Sang; Xu, Xiaohui; Newhouse, Stephen; Dobson, Richard; Steer, Sophia; Cope, Andrew P.; Markus, Hugh S.; Lewis, Cathryn M.

2017-01-01

Abstract Objectives. To evaluate whether genetic and environmental factors associated with RA in European and Asian ancestry populations are also associated with RA in African ancestry individuals. Methods. A case–control study was undertaken in 197 RA cases and 868 controls of African ancestry (Black African, Black Caribbean or Black British ethnicity) from South London. Smoking and alcohol consumption data at RA diagnosis was captured. Genotyping was undertaken (Multi-Ethnic Genotyping Array) and human leukocyte antigen (HLA) alleles imputed. The following European/Asian RA susceptibility factors were tested: 99 genome-wide loci combined into a genetic risk score; HLA region [20 haplotypes; shared epitope (SE)]; smoking; and alcohol consumption. The SE was tested for its association with radiological erosions. Logistic regression models were used, including ancestry-informative principal components, to control for admixture. Results. European/Asian susceptibility loci were associated with RA in African ancestry individuals. The genetic risk score provided an odds ratio (OR) for RA of 1.53 (95% CI: 1.31, 1.79; P = 1.3 × 10 −7). HLA haplotype ORs in European and African ancestry individuals were highly correlated (r = 0.83, 95% CI: 0.56, 0.94; P = 1.1 × 10 −4). Ever-smoking increased (OR = 2.36, 95% CI: 1.46, 3.82; P = 4.6 × 10 −4) and drinking alcohol reduced (OR = 0.34, 95% CI: 0.20, 0.56; P = 2.7 × 10 −5) RA risk in African ancestry individuals. The SE was associated with erosions (OR = 2.61, 95% CI: 1.36, 5.01; P = 3.9 × 10 −3). Conclusion. Gene–environment RA risk factors identified in European/Asian ancestry populations are relevant in African ancestry individuals. As modern statistical methods facilitate analysing ancestrally diverse populations, future genetic studies should incorporate African ancestry individuals to ensure their implications for precision medicine are universally applicable. PMID:28407095

Genetic and environmental risk factors for rheumatoid arthritis in a UK African ancestry population: the GENRA case-control study.

PubMed

Traylor, Matthew; Curtis, Charles; Patel, Hamel; Breen, Gerome; Hyuck Lee, Sang; Xu, Xiaohui; Newhouse, Stephen; Dobson, Richard; Steer, Sophia; Cope, Andrew P; Markus, Hugh S; Lewis, Cathryn M; Scott, Ian C

2017-08-01

To evaluate whether genetic and environmental factors associated with RA in European and Asian ancestry populations are also associated with RA in African ancestry individuals. A case-control study was undertaken in 197 RA cases and 868 controls of African ancestry (Black African, Black Caribbean or Black British ethnicity) from South London. Smoking and alcohol consumption data at RA diagnosis was captured. Genotyping was undertaken (Multi-Ethnic Genotyping Array) and human leukocyte antigen (HLA) alleles imputed. The following European/Asian RA susceptibility factors were tested: 99 genome-wide loci combined into a genetic risk score; HLA region [20 haplotypes; shared epitope (SE)]; smoking; and alcohol consumption. The SE was tested for its association with radiological erosions. Logistic regression models were used, including ancestry-informative principal components, to control for admixture. European/Asian susceptibility loci were associated with RA in African ancestry individuals. The genetic risk score provided an odds ratio (OR) for RA of 1.53 (95% CI: 1.31, 1.79; P = 1.3 × 10 - 7 ). HLA haplotype ORs in European and African ancestry individuals were highly correlated ( r = 0.83, 95% CI: 0.56, 0.94; P = 1.1 × 10 - 4 ). Ever-smoking increased (OR = 2.36, 95% CI: 1.46, 3.82; P = 4.6 × 10 - 4 ) and drinking alcohol reduced (OR = 0.34, 95% CI: 0.20, 0.56; P = 2.7 × 10 - 5 ) RA risk in African ancestry individuals. The SE was associated with erosions (OR = 2.61, 95% CI: 1.36, 5.01; P = 3.9 × 10 - 3 ). Gene-environment RA risk factors identified in European/Asian ancestry populations are relevant in African ancestry individuals. As modern statistical methods facilitate analysing ancestrally diverse populations, future genetic studies should incorporate African ancestry individuals to ensure their implications for precision medicine are universally applicable. © The Author 2017. Published by Oxford University Press on behalf of the British Society for

Group foraging increases foraging efficiency in a piscivorous diver, the African penguin

PubMed Central

McGeorge, Cuan; Ginsberg, Samuel; Pichegru, Lorien; Pistorius, Pierre A.

2017-01-01

Marine piscivores have evolved a variety of morphological and behavioural adaptations, including group foraging, to optimize foraging efficiency when targeting shoaling fish. For penguins that are known to associate at sea and feed on these prey resources, there is nonetheless a lack of empirical evidence to support improved foraging efficiency when foraging with conspecifics. We examined the hunting strategies and foraging performance of breeding African penguins equipped with animal-borne video recorders. Individuals pursued both solitary as well as schooling pelagic fish, and demonstrated independent as well as group foraging behaviour. The most profitable foraging involved herding of fish schools upwards during the ascent phase of a dive where most catches constituted depolarized fish. Catch-per-unit-effort was significantly improved when targeting fish schools as opposed to single fish, especially when foraging in groups. In contrast to more generalist penguin species, African penguins appear to have evolved specialist hunting strategies closely linked to their primary reliance on schooling pelagic fish. The specialist nature of the observed hunting strategies further limits the survival potential of this species if Allee effects reduce group size-related foraging efficiency. This is likely to be exacerbated by diminishing fish stocks due to resource competition and environmental change. PMID:28989785

Genetic polymorphism of (S)-mephenytoin 4′-hydroxylation in populations of African descent

PubMed Central

Xie, H G; Kim, R B; Stein, C M; Wilkinson, G R; Wood, A J J

1999-01-01

Aims The frequency of CYP2C19 poor metabolizers (PMs) in populations of African descent has been reported to range from 1.0% to 35.4%. In order to determine with greater certainty the frequency of CYP2C19 PMs in such black populations we have performed a meta-analysis of the studies. Methods Relevant data on the frequency of both the PM phenotype of probe drugs (mephenytoin, omeprazole, and proguanil), and the distribution frequencies of CYP2C19 alleles and genotypes in black populations were summarized and reanalysed using a meta-analytical approach. Results Of nine reported studies two were excluded because of significant heterogeneity (χ2 = 115, P < 0.0001). The combined data from the remaining seven studies showed that the frequency of the PM phenotype in 922 healthy unrelated black Africans and black Americans ranged from 1.0% to 7.5% (n = 7 for combined data) with an overall frequency being 3.9% (36 of 922; 95%CI: 2.7%–5.2%). The frequency of the PM genotypes in blacks was 3.7% (36 of 966; 95%CI: 2.5%–4.9%), in agreement with the frequency of the PM phenotype. In the extensive metabolizers (EMs) 29% (271 of 930) were heterozygotes (wt/m). The observed frequencies of the three Mendelian genotypes were 0.68 for wt/wt, 0.28 for wt/m, and 0.04 for m/m. The allelic distribution was appropriate at 82.3% (95%CI: 80.5%-83.9%) for CYP2C19*1, 17.3% (95%CI:15.7%–19.0%) for CYP2C19*2 (m1), and 0.4% (95%CI: 0.1%–0.7%) for CYP2C19*3 (m2) in these populations. Conclusions We conclude that subjects of African ancestry have a low frequency of the CYP2C19 PM phenotype and genotype; that the defective CYP2C19 alleles are uncommon, and that a small proportion of heterozygotes exists in the EM subpopulation. PMID:10510153

Diffuse Reflectance Spectroscopy Versus Mexameter(®) MX18 Measurements of Melanin and Erythema in an African Population.

PubMed

Wright, Caradee Y; Karsten, Aletta E; Wilkes, Marcus; Singh, Ann; du Plessis, Johan; Albers, Patricia N; Karsten, Petrus A

2016-07-01

Melanin provides protection against excess exposure to solar ultraviolet radiation (UVR) and related adverse health effects. Diffuse reflectance spectroscopy (DRS) can be used to calculate cutaneous melanin and erythema, but this is complex and has been mostly used for light-to-medium pigmented skin. Handheld reflectance spectrophotometers, such as the Mexameter(®) MX18, can also be used. We compared DRS-calculated melanin and erythema values with Mexameter melanin and erythema index values to understand how these techniques/measurements correlate in an African population of predominantly deeply pigmented skin. Five hundred and three participants comprised 68.5% self-identified Black African, 9.9% Indian/Asian, 18.4% White and 2.9% Colored. The majority of Black African (45%), Indian/Asian (34%) and Colored (53%) participants self-identified their skin as being "brown." Measured melanin levels increased with darker self-reported skin color. DRS-calculated and Mexameter melanin values demonstrated a positive correlation (Spearman rho = 0.87, P < 0.001). The results from both instruments showed erythema values were strongly correlated with their own melanin values. This finding is considered spurious and may result from the complexity of separating brown and red pigment when using narrowband reflectance techniques. Further work is needed to understand melanin, erythema and color in Black skin given sun-related health risks in vulnerable groups in Africa. © 2016 The American Society of Photobiology.

Inbreeding avoidance influences the viability of reintroduced populations of African wild dogs (Lycaon pictus).

PubMed

Becker, Penny A; Miller, Philip S; Gunther, Micaela Szykman; Somers, Michael J; Wildt, David E; Maldonado, Jesús E

2012-01-01

The conservation of many fragmented and small populations of endangered African wild dogs (Lycaon pictus) relies on understanding the natural processes affecting genetic diversity, demographics, and future viability. We used extensive behavioural, life-history, and genetic data from reintroduced African wild dogs in South Africa to (1) test for inbreeding avoidance via mate selection and (2) model the potential consequences of avoidance on population persistence. Results suggested that wild dogs avoided mating with kin. Inbreeding was rare in natal packs, after reproductive vacancies, and between sibling cohorts (observed on 0.8%, 12.5%, and 3.8% of occasions, respectively). Only one of the six (16.7%) breeding pairs confirmed as third-order (or closer) kin consisted of animals that were familiar with each other, while no other paired individuals had any prior association. Computer-simulated populations allowed to experience inbreeding had only a 1.6% probability of extinction within 100 years, whereas all populations avoiding incestuous matings became extinct due to the absence of unrelated mates. Populations that avoided mating with first-order relatives became extinct after 63 years compared with persistence of 37 and 19 years for those also prevented from second-order and third-order matings, respectively. Although stronger inbreeding avoidance maintains significantly more genetic variation, our results demonstrate the potentially severe demographic impacts of reduced numbers of suitable mates on the future viability of small, isolated wild dog populations. The rapid rate of population decline suggests that extinction may occur before inbreeding depression is observed.

Inbreeding Avoidance Influences the Viability of Reintroduced Populations of African Wild Dogs (Lycaon pictus)

PubMed Central

Becker, Penny A.; Miller, Philip S.; Gunther, Micaela Szykman; Somers, Michael J.; Wildt, David E.; Maldonado, Jesús E.

2012-01-01

The conservation of many fragmented and small populations of endangered African wild dogs (Lycaon pictus) relies on understanding the natural processes affecting genetic diversity, demographics, and future viability. We used extensive behavioural, life-history, and genetic data from reintroduced African wild dogs in South Africa to (1) test for inbreeding avoidance via mate selection and (2) model the potential consequences of avoidance on population persistence. Results suggested that wild dogs avoided mating with kin. Inbreeding was rare in natal packs, after reproductive vacancies, and between sibling cohorts (observed on 0.8%, 12.5%, and 3.8% of occasions, respectively). Only one of the six (16.7%) breeding pairs confirmed as third-order (or closer) kin consisted of animals that were familiar with each other, while no other paired individuals had any prior association. Computer-simulated populations allowed to experience inbreeding had only a 1.6% probability of extinction within 100 years, whereas all populations avoiding incestuous matings became extinct due to the absence of unrelated mates. Populations that avoided mating with first-order relatives became extinct after 63 years compared with persistence of 37 and 19 years for those also prevented from second-order and third-order matings, respectively. Although stronger inbreeding avoidance maintains significantly more genetic variation, our results demonstrate the potentially severe demographic impacts of reduced numbers of suitable mates on the future viability of small, isolated wild dog populations. The rapid rate of population decline suggests that extinction may occur before inbreeding depression is observed. PMID:22615933

Perceptions of support among older African American cancer survivors.

PubMed

Hamilton, Jill B; Moore, Charles E; Powe, Barbara D; Agarwal, Mansi; Martin, Pamela

2010-07-01

To explore the perceived social support needs among older adult African American cancer survivors. Qualitative design using grounded theory techniques. Outpatient oncology clinics in the southeastern United States. Focus groups with 22 older adult African American cancer survivors. Purposeful sampling technique was used to identify focus group participants. In-depth interviews were conducted and participants were interviewed until informational redundancy was achieved. Social support needs of older adult African American patients with cancer. Social support was influenced by (a) symptoms and treatment side effects, (b) perceptions of stigma and fears expressed by family and friends, (c) cultural beliefs about cancer, and (d) desires to lessen any burden or disruption to the lives of family and friends. Survivors navigated within and outside of their networks to get their social support needs met. In some instances, survivors socially withdrew from traditional sources of support for fear of being ostracized. Survivors also described feeling hurt, alone, and socially isolated when completely abandoned by friends. The support from family, friends, and fellow church members is important to positive outcomes among older African American cancer survivors. However, misconceptions, fears, and negative cultural beliefs persist within the African American community and negatively influence the social support available to this population. Early identification of the factors that influence social support can facilitate strategies to improve outcomes and decrease health disparities among this population.

Do You See What I See? Effects of Group Consciousness on African American Women's Attributions to Prejudice

ERIC Educational Resources Information Center

King, Kimberly R.

2003-01-01

This study examined the effects of three types of group consciousness among African American women ("ethnic," "feminist," and "womanist") on prejudice attributions and appraised personal significance ("centrality") of a negative intergroup event. African American female college students (N = 123) imagined themselves in an audiotaped scenario in…

Needs and Preferences for Receiving Mental Health Information in an African American Focus Group Sample

PubMed Central

Mishra, Shiraz I.; Lucksted, Alicia; Gioia, Deborah; Barnet, Beth; Baquet, Claudia R.

2013-01-01

The purpose of this study is to better understand the mental health/illness information and service delivery preferences among African American residents of Baltimore. We conducted four focus groups (n=42) among African American adults currently unconnected with the mental health system. Participants expressed fear of stigma and perceptions of racism as major barriers to seeking information and/or services and discussed some normalizing strategies to address these barriers. African Americans harbor cultural and traditional beliefs regarding mental illness which could also act as barriers. Findings have implications for imparting acceptable and culturally-sensitive mental health education and service delivery programs in community settings. PMID:18633704

Molecular genotyping of ABO blood groups in some population groups from India.

PubMed

Ray, Sabita; Gorakshakar, Ajit C; Vasantha, K; Nadkarni, Anita; Italia, Yazdi; Ghosh, Kanjaksha

2014-01-01

Indian population is characterized by the presence of various castes and tribal groups. Various genetic polymorphisms have been used to differentiate among these groups. Amongst these, the ABO blood group system has been extensively studied. There is no information on molecular genotyping of ABO blood groups from India. Therefore, the main objective of this study was to characterize the common A, B and O alleles by molecular analysis in some Indian population groups. One hundred samples from the mixed population from Mumbai, 101 samples from the Dhodia tribe and 100 samples from the Parsi community were included in this study. Initially, the samples were phenotyped by standard serologic techniques. PCR followed by single strand conformational polymorphsim (SSCP) was used for molecular ABO genotyping. Samples showing atypical SSCP patterns were further analysed by DNA sequencing to characterize rare alleles. Seven common ABO alleles with 19 different genotypes were found in the mixed population. The Dhodias showed 12 different ABO genotypes and the Parsis revealed 15 different ABO genotypes with six common ABO alleles identified in each of them. Two rare alleles were also identified. This study reports the distribution of molecular genotypes of ABO alleles among some population groups from India. Considering the extremely heterogeneous nature of the Indian population, in terms of various genotype markers like blood groups, red cell enzymes, etc., many more ABO alleles are likely to be encountered.

Complex population structure in African village dogs and its implications for inferring dog domestication history

PubMed Central

Boyko, Adam R.; Boyko, Ryan H.; Boyko, Corin M.; Parker, Heidi G.; Castelhano, Marta; Corey, Liz; Degenhardt, Jeremiah D.; Auton, Adam; Hedimbi, Marius; Kityo, Robert; Ostrander, Elaine A.; Schoenebeck, Jeffrey; Todhunter, Rory J.; Jones, Paul; Bustamante, Carlos D.

2009-01-01

High genetic diversity of East Asian village dogs has recently been used to argue for an East Asian origin of the domestic dog. However, global village dog genetic diversity and the extent to which semiferal village dogs represent distinct, indigenous populations instead of admixtures of various dog breeds has not been quantified. Understanding these issues is critical to properly reconstructing the timing, number, and locations of dog domestication. To address these questions, we sampled 318 village dogs from 7 regions in Egypt, Uganda, and Namibia, measuring genetic diversity >680 bp of the mitochondrial D-loop, 300 SNPs, and 89 microsatellite markers. We also analyzed breed dogs, including putatively African breeds (Afghan hounds, Basenjis, Pharaoh hounds, Rhodesian ridgebacks, and Salukis), Puerto Rican street dogs, and mixed breed dogs from the United States. Village dogs from most African regions appear genetically distinct from non-native breed and mixed-breed dogs, although some individuals cluster genetically with Puerto Rican dogs or United States breed mixes instead of with neighboring village dogs. Thus, African village dogs are a mosaic of indigenous dogs descended from early migrants to Africa, and non-native, breed-admixed individuals. Among putatively African breeds, Pharaoh hounds, and Rhodesian ridgebacks clustered with non-native rather than indigenous African dogs, suggesting they have predominantly non-African origins. Surprisingly, we find similar mtDNA haplotype diversity in African and East Asian village dogs, potentially calling into question the hypothesis of an East Asian origin for dog domestication. PMID:19666600

Complex population structure in African village dogs and its implications for inferring dog domestication history.

PubMed

Boyko, Adam R; Boyko, Ryan H; Boyko, Corin M; Parker, Heidi G; Castelhano, Marta; Corey, Liz; Degenhardt, Jeremiah D; Auton, Adam; Hedimbi, Marius; Kityo, Robert; Ostrander, Elaine A; Schoenebeck, Jeffrey; Todhunter, Rory J; Jones, Paul; Bustamante, Carlos D

2009-08-18

High genetic diversity of East Asian village dogs has recently been used to argue for an East Asian origin of the domestic dog. However, global village dog genetic diversity and the extent to which semiferal village dogs represent distinct, indigenous populations instead of admixtures of various dog breeds has not been quantified. Understanding these issues is critical to properly reconstructing the timing, number, and locations of dog domestication. To address these questions, we sampled 318 village dogs from 7 regions in Egypt, Uganda, and Namibia, measuring genetic diversity >680 bp of the mitochondrial D-loop, 300 SNPs, and 89 microsatellite markers. We also analyzed breed dogs, including putatively African breeds (Afghan hounds, Basenjis, Pharaoh hounds, Rhodesian ridgebacks, and Salukis), Puerto Rican street dogs, and mixed breed dogs from the United States. Village dogs from most African regions appear genetically distinct from non-native breed and mixed-breed dogs, although some individuals cluster genetically with Puerto Rican dogs or United States breed mixes instead of with neighboring village dogs. Thus, African village dogs are a mosaic of indigenous dogs descended from early migrants to Africa, and non-native, breed-admixed individuals. Among putatively African breeds, Pharaoh hounds, and Rhodesian ridgebacks clustered with non-native rather than indigenous African dogs, suggesting they have predominantly non-African origins. Surprisingly, we find similar mtDNA haplotype diversity in African and East Asian village dogs, potentially calling into question the hypothesis of an East Asian origin for dog domestication.

African-American Women’s Perceptions and Experiences About Breastfeeding

PubMed Central

Obeng, Cecilia S.; Emetu, Roberta E.; Curtis, Terry J.

2015-01-01

There are health benefits to breastfeeding for both mothers and their children. The preventive health effects of breastfeeding continue into adulthood, lowering rate of various chronic illnesses. African-American women, especially of lower socioeconomic status, are less likely to breastfeed in comparison to their racial and ethnic counterparts. The purpose of this study is to explore how African-American women experience breastfeeding in the early stages of postpartum care. Two focus groups (N = 20, 10 in each group) were conducted with African-American mothers. Results revealed that participants felt that there were health benefits to breastfeeding, and organizations such as Women, Infants, and Children (WIC) provided support. However, participants stated that lack of information, negative perceptions, and unforeseen circumstances were barriers to breastfeeding. This study proposes support and interventions for this group to increase breastfeeding among this population. PMID:26734597

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations

USDA-ARS?s Scientific Manuscript database

Meta-analyses of European populations has successfully identified genetic variants in over 100 loci associated with lipid levels, but our knowledge in other ethnicities remains limited. To address this, we performed dense genotyping of circa 2,000 candidate genes in 7,657 African Americans, 1,315 Hi...

Group selections among laboratory populations of Tribolium.

PubMed

Wade, M J

1976-12-01

Selection at the population level or group selection is defined as genetic change that is brought about or maintained by the differential extinction and/or proliferation of populations. Group selection for both increased and decreased adult population size was carried out among laboratory populations of Tribolium castaneum at 37-day intervals. The effect of individual selection within populations on adult population size was evaluated in an additional control series of populations. The response in the group selection treatments occurred rapidly, within three or four generations, and was large in magnitude, at times differing from the controls by over 200%. This response to selection at the populational level occurred despite strong individual selection which caused a decline in the mean size of the control populations from over 200 adults to near 50 adults in nine 37-day intervals. "Assay" experiments indicated that selective changes in fecundity, developmental time, body weight, and cannibalism rates were responsible in part for the observed treatment differences in adult population size. These findings have implications in terms of speciation in organisms whose range is composed of many partially isolated local populations.

Addressing Low Colorectal Cancer Screening in African Americans: Using Focus Groups to Inform the Development of Effective Interventions.

PubMed

May, Folasade P; Whitman, Cynthia B; Varlyguina, Ksenia; Bromley, Erica G; Spiegel, Brennan M R

2016-09-01

African Americans have the highest burden of colorectal cancer (CRC) in the United States of America (USA) yet lower CRC screening rates than whites. Although poor screening has prompted efforts to increase screening uptake, there is a persistent need to develop public health interventions in partnership with the African American community. The aim of this study was to conduct focus groups with African Americans to determine preferences for the content and mode of dissemination of culturally tailored CRC screening interventions. In June 2013, 45-75-year-old African Americans were recruited through online advertisements and from an urban Veterans Affairs system to create four focus groups. A semi-structured interview script employing open-ended elicitation was used, and transcripts were analyzed using ATLAS.ti software to code and group data into a concept network. A total of 38 participants (mean age = 54) were enrolled, and 59 ATLAS.ti codes were generated. Commonly reported barriers to screening included perceived invasiveness of colonoscopy, fear of pain, and financial concerns. Facilitators included poor diet/health and desire to prevent CRC. Common sources of health information included media and medical providers. CRC screening information was commonly obtained from medical personnel or media. Participants suggested dissemination of CRC screening education through commercials, billboards, influential African American public figures, Internet, and radio. Participants suggested future interventions include culturally specific information, including details about increased risk, accessing care, and dispelling of myths. Public health interventions to improve CRC screening among African Americans should employ media outlets, emphasize increased risk among African Americans, and address race-specific barriers. Specific recommendations are presented for developing future interventions.

Obesity and African Americans

MedlinePlus

... Data > Minority Population Profiles > Black/African American > Obesity Obesity and African Americans African American women have the ... youthonline . [Accessed 08/18/2017] HEALTH IMPACT OF OBESITY People who are overweight are more likely to ...

Molecular genotyping of ABO blood groups in some population groups from India

PubMed Central

Ray, Sabita; Gorakshakar, Ajit C.; Vasantha, K.; Nadkarni, Anita; Italia, Yazdi; Ghosh, Kanjaksha

2014-01-01

Background & objectives: Indian population is characterized by the presence of various castes and tribal groups. Various genetic polymorphisms have been used to differentiate among these groups. Amongst these, the ABO blood group system has been extensively studied. There is no information on molecular genotyping of ABO blood groups from India. Therefore, the main objective of this study was to characterize the common A, B and O alleles by molecular analysis in some Indian population groups. Methods: One hundred samples from the mixed population from Mumbai, 101 samples from the Dhodia tribe and 100 samples from the Parsi community were included in this study. Initially, the samples were phenotyped by standard serologic techniques. PCR followed by single strand conformational polymorphsim (SSCP) was used for molecular ABO genotyping. Samples showing atypical SSCP patterns were further analysed by DNA sequencing to characterize rare alleles. Results: Seven common ABO alleles with 19 different genotypes were found in the mixed population. The Dhodias showed 12 different ABO genotypes and the Parsis revealed 15 different ABO genotypes with six common ABO alleles identified in each of them. Two rare alleles were also identified. Interpretation & conclusions: This study reports the distribution of molecular genotypes of ABO alleles among some population groups from India. Considering the extremely heterogeneous nature of the Indian population, in terms of various genotype markers like blood groups, red cell enzymes, etc., many more ABO alleles are likely to be encountered. PMID:24604045

Discord of Biological and Psychological Measures in a Group of Depressed African American and White Cancer Patients

PubMed Central

Zhang, Amy Y

2011-01-01

Objective: This study examined racial differences in the self-report of depressive symptoms by reference to biological states. Methods: The study used a convenience sample of 20 depressed cancer patients (CES-D ≥16) (15 African Americans and 5 Whites). Subjects completed depression assessment on a battery of psychological measures and provided blood and saliva samples. Laboratory tests were performed on biomarkers (serotonin, cortisol and IL-6). T-test was computed to examine racial differences on biological and psychological measures. Results: Depressed Whites had a significantly higher cortisol level than depressed African Americans, but no significant group difference was found on any self-reported psychological measures of depression. There was a trend that African Americans reported fewer depressive symptoms on psychological measures but exceeded Whites on the domain of somatization; however, such group differences did not approach statistic significance in this small sample. Conclusion: African Americans did not appear to underreport depression in consideration of their biological states, but had a tendency to report more somatic symptoms than Whites; this may be attributable to non-depression diseases or reporting behavior rather than somatic sensitivity. African Americans exhibited more mistrust in the health care system, which could affect the self-report of depression. There is a discord between biological and psychological measures of depression. Biomarkers prove to be useful for evaluating racial difference in the self-report of depression. Implication for Nursing: Nurses should be cautious of somatic complaints when assessing African American cancer patient’s depression. Establishing trust is essential for an accurate assessment of depression in African American cancer patients. PMID:22135714

Extensive Copy Number Variations in Admixed Indian Population of African Ancestry: Potential Involvement in Adaptation

PubMed Central

Dash, Debasis; Mukerji, Mitali

2014-01-01

Admixture mapping has been enormously resourceful in identifying genetic variations linked to phenotypes, adaptation, and diseases. In this study through analysis of copy number variable regions (CNVRs), we report extensive restructuring in the genomes of the recently admixed African-Indian population (OG-W-IP) that inhabits a highly saline environment in Western India. The study included subjects from OG-W-IP (OG), five different Indian and three HapMap populations that were genotyped using Affymetrix version 6.0 arrays. Copy number variations (CNVs) detected using Birdsuite were used to define CNVRs. Population structure with respect to CNVRs was delineated using random forest approach. OG genomes have a surprising excess of CNVs in comparison to other studied populations. Individual ancestry proportions computed using STRUCTURE also reveals a unique genetic component in OGs. Population structure analysis with CNV genotypes indicates OG to be distant from both the African and Indian ancestral populations. Interestingly, it shows genetic proximity with respect to CNVs to only one Indian population IE-W-LP4, which also happens to reside in the same geographical region. We also observe a significant enrichment of molecular processes related to ion binding and receptor activity in genes encompassing OG-specific CNVRs. Our results suggest that retention of CNVRs from ancestral natives and de novo acquisition of CNVRs could accelerate the process of adaptation especially in an extreme environment. Additionally, this population would be enormously useful for dissecting genes and delineating the involvement of CNVs in salt adaptation. PMID:25398783

AAC services for multilingual populations: South African service provider perspectives.

PubMed

Tönsing, Kerstin M; van Niekerk, Karin; Schlünz, Georg I; Wilken, Ilana

In South Africa, many persons in need of augmentative and alternative communication (AAC) come from multilingual backgrounds. There is as yet a limited evidence base (locally and internationally) for the provision of AAC services to multilingual populations. The perspectives of service providers can assist in gaining an understanding of current practices and the factors that influence these. The study aimed to obtain the perspectives of AAC service providers about practices in providing AAC systems and AAC intervention to clients from multilingual backgrounds. Fifteen AAC service providers were purposefully chosen to participate in one of three focus groups - two face-to-face and one online focus group. Data from the face-to-face focus groups was transcribed verbatim. Thematic analysis was used to identify themes and subthemes in the data. Four overarching themes were identified, namely (a) current practices, (b) factors influencing current practices, (c) service provides' orientation towards different language options in AAC intervention, and (d) needs and desired developments regarding AAC technology. This paper reports on the first three themes. Service providers reported their practices to range from a focus on L1 exclusively, L2 exclusively, to a multilingual (sequential or simultaneous) approach. The South African language context, family language preferences and choices, service provider skill and knowledge, as well as AAC technology were identified as factors influencing their practices. Although many viewed access to multiple languages through AAC as positive, they also expressed concerns and reservations about providing multilingual AAC services. Although service providers in general saw the need to give clients from multilingual backgrounds access to multiple languages using AAC, this did not always translate into multilingual AAC practices. Both extrinsic factors (e.g. the lack of appropriate AAC devices, software and apps giving access to non

The Influence of Personal and Group Racism on Entry into Prenatal Care among African American Women

PubMed Central

Slaughter-Acey, Jaime C.; Caldwell, Cleopatra H.; Misra, Dawn P.

2013-01-01

Background Racism has been hypothesized as a barrier to accessing healthcare. No quantitative study has directly assessed its influence on women's initiation of prenatal care (PNC). We examined the relationship between PNC entry and experiences of personal and group racism among low-income African American women. We also examined whether the use of denial of racism as coping mechanism was associated with a delay in accessing PNC. Methods Using a prospective/retrospective cohort design we collected data from 872 African American women (prenatally: n=484; postpartum: n=388). Multinomial logistic regression was used to assess the relationship between the overall denial of racism index and PNC initiation. Findings PNC entry was not significantly associated with personal experiences of racism (p=0.33); it was significantly associated with group experiences (p<0.01). Conclusion Denial of racism experienced by other AAs was a barrier to early PNC among low-income African American women. Delayed access to PNC may be rooted in the avoidance of racialized experiences among less empowered women when faced with discrimination. Our findings have important implication for the engagement of African American women into the PNC delivery system and the health care system postpartum. PMID:24041828

Consumption of processed food dietary patterns in four African populations.

PubMed

Holmes, Michelle D; Dalal, Shona; Sewram, Vikash; Diamond, Megan B; Adebamowo, Sally N; Ajayi, Ikeoluwapo O; Adebamowo, Clement; Chiwanga, Faraja S; Njelekela, Marina; Laurence, Carien; Volmink, Jimmy; Bajunirwe, Francis; Nankya-Mutyoba, Joan; Guwatudde, David; Reid, Todd G; Willett, Walter C; Adami, Hans-Olov; Fung, Teresa T

2018-06-01

To identify predominant dietary patterns in four African populations and examine their association with obesity. Cross-sectional study.Setting/SubjectsWe used data from the Africa/Harvard School of Public Health Partnership for Cohort Research and Training (PaCT) pilot study established to investigate the feasibility of a multi-country longitudinal study of non-communicable chronic disease in sub-Saharan Africa. We applied principal component analysis to dietary intake data collected from an FFQ developed for PaCT to ascertain dietary patterns in Tanzania, South Africa, and peri-urban and rural Uganda. The sample consisted of 444 women and 294 men. We identified two dietary patterns: the Mixed Diet pattern characterized by high intakes of unprocessed foods such as vegetables and fresh fish, but also cold cuts and refined grains; and the Processed Diet pattern characterized by high intakes of salad dressing, cold cuts and sweets. Women in the highest tertile of the Processed Diet pattern score were 3·00 times more likely to be overweight (95 % CI 1·66, 5·45; prevalence=74 %) and 4·24 times more likely to be obese (95 % CI 2·23, 8·05; prevalence=44 %) than women in this pattern's lowest tertile (both P<0·0001; prevalence=47 and 14 %, respectively). We found similarly strong associations in men. There was no association between the Mixed Diet pattern and overweight or obesity. We identified two major dietary patterns in several African populations, a Mixed Diet pattern and a Processed Diet pattern. The Processed Diet pattern was associated with obesity.

[African population growth: status and prospects].

PubMed

Tabutin, D

1991-01-01

Despite great improvements over the past several years, the quality of demographic data in Africa is still a problem, and Africa remains the least well known continent. Population growth is extremely rapid, with all countries growing at annual rates of over 3%. The natural increase rate even shows some signs of increasing slightly in the next decade or so. Africa's population was estimated at 220 million in 1950, 650 million at present, and is projected at 1.5 billion by 2025. Africans represented 9% of the world population in 1960, but will increase to 19% around 2025. The rapid population growth is the result of declining mortality since the 1950s unmatched by changes in fertility. There are significant socioeconomic and rural-urban mortality differentials in Africa, but as yet only highly educated urbanites have measurably reduced their family size. 2 consequences of this rapid growth are the youth of the population, with almost 50% under 20 years, and its high density in some areas. By 2025, 18 countries will have densities of over 100 persons per sq km. Almost everywhere in Africa, family sizes are at least 6 children/woman. 3 factors explaining this high level of fertility are the earliness and universality of marriage, rates of contraceptive usage of only 4-10% in most countries, and declining durations of breast feeding and sexual abstinence, which traditionally served as brakes on fertility. As a rule, women marry young and remain married until the end of their reproductive years. Divorce and widowhood are common, but remarriage is usually rapid if the woman is still of reproductive age. Life expectancy at birth in sub-Saharan Africa has increased from some 36 years around 1950 to 50 years at present. Progress in control of mortality, and especially infant mortality, has been slower than expected, and Africa still has by far the lowest life expectancy of any major region. Regional, rural-urban, and socioeconomic mortality differentials are considerable and

Association between copy number variation losses and alcohol dependence across African American and European American ethnic groups.

PubMed

Ulloa, Alvaro E; Chen, Jiayu; Vergara, Victor M; Calhoun, Vince; Liu, Jingyu

2014-05-01

Copy number variations (CNVs) are structural genetic mutations consisting of segmental gains or losses in DNA sequence. Although CNVs contribute substantially to genomic variation, few genetic and imaging studies report association of CNVs with alcohol dependence (AD). Our purpose is to find evidence of this association across ethnic populations and genders. This work is the first AD-CNV study across ethnic groups and the first to include the African American (AA) population. This study considers 2 CNV data sets, one for discovery (2,345 samples) and the other for validation (239 samples), both including subjects with AD and healthy controls of European and African ancestry. Our analysis assesses the association between AD and CNV losses across ethnic groups and gender by examining the effect of overall losses across the whole genome, collective losses within individual cytogenetic bands, and specific losses in CNV regions. Results from the discovery data set showed an association between CNV losses within 16q12.2 and AD diagnosis (p = 4.53 × 10(-3) ). An overlapping CNV region from the validation data set exhibited the same direction of effect with respect to AD (p = 0.051). This CNV region affects the genes CES1p1 and CES1, which are members of the carboxylesterase (CES) family. The enzyme encoded by CES1 is a major liver enzyme that typically catalyzes the decomposition of ester into alcohol and carboxylic acid and is involved in drug or xenobiotics, fatty acid, and cholesterol metabolisms. In addition, the most significantly associated CNV region was located at 9p21.2 (p = 1.9 × 10(-3) ) in our discovery data set. Although not observed in the validation data set, probably due to small sample size, this result might hold potential connection to AD given its connection with neuronal death. In contrast, we did not find any association between AD and the overall total losses or the collective losses within individual cytogenetic bands. Overall, our study provides

High rates of homicide in a rural South African population (2000-2008): findings from a population-based cohort study.

PubMed

Otieno, George; Marinda, Edmore; Bärnighausen, Till; Tanser, Frank

2015-01-01

South Africa has continued to receive increasing attention due to unprecedented high levels of violence. Homicide-related violence accounts for a significant proportion of unnatural deaths and contributes significantly to loss of years of expected life. We investigated levels and factors associated with homicide-related deaths and identify communities with excessively high homicide risk in a typical rural South African population. Data drawn from verbal autopsies conducted on all deaths recorded during annual demographic and health surveillance in KwaZulu Natal, South Africa were used to derive the cumulative probability of death from homicide over a nine-year period (2000-2008). Weibull regression methods were used to investigate factors associated with homicide deaths. A Kulldorff spatial scan statistic was used to identify spatial clusters of homicide-related deaths. With 536 homicide-related deaths, and a median seven years of follow-up, the study found an overall homicide incidence rate of 66 deaths per 100, 000 person-years of observation (PYOs) (95 % CI 60-72) for the period under study. Death related to the use of firearms was the leading reported method of homicide (65 %) and most deaths occurred over weekends (43 %). Homicides are the second-most common cause of death in men aged 25-34 after HIV-related deaths (including TB) in this community, at 210 deaths per 100,000 PYOs, and was highest among 55-64 year old women, at 78 deaths per 100,000 PYOs. Residency status, age, socioeconomic status, and highest education level attained independently predicted the risk of homicide death. The spatial distribution of homicide deaths was not homogenous and the study identified two clear geographical clusters with significantly elevated homicide risk. The high rates of homicide observed in this typical rural South African population - particularly among men - underscore the need for urgent interventions to reduce this tragic and theoretically preventable loss of

Should African Americans have a lower blood pressure goal than other ethnic groups to prevent organ damage?

PubMed

Flack, John M; Okwuosa, Tochukwi; Sudhakar, Rajeev; Ference, Brian; Levy, Phillip

2012-12-01

African Americans manifest an inordinately high burden of hypertension, pressure-related target-organ injury (eg, left ventricular hypertrophy, stroke), and sub-optimal hypertension control rates to conventional levels (<140/90 mm Hg). A substantive proportion of the excessive premature mortality in African Americans relative to Whites is pressure-related. Randomized prospective pharmacologic hypertension end-point trials have shown invariable cardiovascular disease (CVD) risk reduction across a broad range of pre-treatment BP levels down to 110/70 mm Hg with the magnitude of CVD risk reduction across the 5 major antihypertensive drug classes being directly linked to degree of blood pressure (BP) lowering. Pooled endpoint data from pharmacologic hypertension trials in African Americans showed that CVD risk reduction was the same with major antihypertensive drug classes when similar levels of BP were achieved. A lower than conventional BP target for African Americans seems justified and prudent because attainment of lower BP should incrementally lower CVD risk in this high-risk population.

Rapid identification of apolipoprotein E genotypes by high-resolution melting analysis in Chinese Han and African Fang populations.

PubMed

Zhan, Xiu-Hui; Zha, Guang-Cai; Jiao, Ji-Wei; Yang, Li-Ye; Zhan, Xiao-Fen; Chen, Jiang-Tao; Xie, Dong-DE; Eyi, Urbano Monsuy; Matesa, Rocio Apicante; Obono, Maximo Miko Ondo; Ehapo, Carlos Sala; Wei, Er-Jia; Zheng, Yu-Zhong; Yang, Hui; Lin, Min

2015-02-01

Apolipoprotein E (APOE) gene polymorphism can affect APOE gene transcription, serum lipid levels and repair of tissue damage, which could place individuals at serious risk of cardiovascular disease or certain infectious diseases. Recently, high-resolution melting (HRM) analysis was reported to be a simple, inexpensive, accurate and sensitive method for the genotyping or/and scanning of rare mutations. For this reason, an HRM analysis was used in the present study for APOE genotyping in the Southern Chinese Han and African Fang populations. A total of 100 healthy Southern Chinese Han and 175 healthy African Fang individuals attended the study. Polymerase chain reaction-DNA sequencing was used as a reference method for the genotyping of these samples. The six APOE genotypes could all be rapidly and efficiently identified by HRM analysis, and 100% concordance was found between the HRM analysis and the reference method. The allele frequencies of APOE in the Southern Chinese Han population were 7.0, 87.5 and 5.5% for ɛ2, ɛ3 and ɛ4, respectively. In the African Fang population, the allele frequencies of APOE were 24.3, 65.7 and 10.0% for ɛ2, ɛ3 and ɛ4, respectively. A statistically significant difference was found between the allele frequencies between the populations (P<0.05). In conclusion, the present study revealed the molecular characterization of APOE gene polymorphism in the Han population from the Chaozhou region of Southern China and the Fang population from Equatorial Guinea. The findings of the study indicated that HRM analysis could be used as an accurate and sensitive method for the rapid screening and identification of APOE genotypes in prospective clinical and population genetic analyses.

The aging African-American face.

PubMed

Brissett, Anthony E; Naylor, Michelle C

2010-05-01

With the desire to create a more youthful appearance, patients of all races and ethnicities are increasingly seeking nonsurgical and surgical rejuvenation. In particular, facial rejuvenation procedures have grown significantly within the African-American population. This increase has resulted in a paradigm shift in facial plastic surgery as one considers rejuvenation procedures in those of African descent, as the aging process of various racial groups differs from traditional models. The purpose of this article is to draw attention to the facial features unique to those of African descent and the role these features play in the aging process, taking care to highlight the differences from traditional models of facial aging. In addition, this article will briefly describe the nonsurgical and surgical options for facial rejuvenation taking into consideration the previously discussed facial aging differences and postoperative considerations. Thieme Medical Publishers.

Cognitive-Behavioral Therapy to Promote Smoking Cessation among African American Smokers: A Randomized Clinical Trial

ERIC Educational Resources Information Center

Webb, Monica S.; de Ybarra, Denise Rodriguez; Baker, Elizabeth A.; Reis, Isildinha M.; Carey, Michael P.

2010-01-01

Objective: The health consequences of tobacco smoking disproportionately affect African Americans, but research on whether efficacious interventions can be generalized to this population is limited. This study examined the efficacy of group-based cognitive-behavioral therapy (CBT) for smoking cessation among African Americans. Method: Participants…

The timing of mandibular tooth formation in two African groups.

PubMed

Elamin, Fadil; Hector, Mark P; Liversidge, Helen M

2017-05-01

Ethnic differences in the timing of human tooth development are unclear. To describe similarities and differences in the timing of tooth formation in two groups of Sudanese children and young adults. The sample consisted of healthy individuals from Khartoum, Sudan, aged 2-23 years. The Northern group was of Arab origin (848 males, 802 females) and the Western group was of African origin (846 males, 402 females). Each mandibular left permanent tooth from first incisor to third molar was assessed from dental radiographs into one of 15 development stages. Mean ages at entry for 306 tooth stages were calculated using probit regression in males/females in each group and compared using a t-test. Mean ages were not significantly different in most tooth stage comparisons between ethnic groups for both males (61/75) and females (56/76), despite a tendency of earlier mean ages in the Western group. Mean ages for most tooth stage comparisons between males and females (137/155) were not significantly different within ethnic groups suggesting low sexual dimorphism. The mean ages of most mandibular tooth formation stages were generally not significantly different between ethnic groups or between males and females in this study.

Lipid levels among African and Middle-Eastern Bedouin populations.

PubMed

Dreiher, Jacob; Cohen, Arnon D; Weitzman, Shimon; Sharf, Amir; Shvartzman, Pesach

2008-06-01

Previous studies observed higher high-density lipoprotein (HDL) levels and lower triglycerides levels among people of African ancestry. The goal of this study was to characterize lipid levels in Bedouins of African vs. Middle-Eastern ethnicity. A cross-sectional study was conducted in a Bedouin primary care clinic in southern Israel, with 4470 listed individuals over the age of 21, of whom 402 (9%) were of African origin. A stratified random sample was included in the analysis. Associations between ethnicity, age, gender and lipid levels were assessed. Multiple linear regression and logistic regression models were used for multivariate analysis. The study included 261 African Bedouins and 406 Middle-Eastern Bedouins. (median age: 37 years, 58.6% females). The average total cholesterol and low-density lipoprotein (LDL) levels were 10 mg/dl lower among African Bedouins as compared to Middle-Eastern Bedouins (total cholesterol: 168.6 vs. 179.6 mg/dl, p<0.001; LDL: 99.5 vs. 109.0 mg/dl, respectively, p<0.001). Average triglycerides levels were 36 mg/dl lower among African Bedouins as compared to Middle-Eastern Bedouins (102.8 vs. 138.9 mg/dl, respectively, p<0.001). Average HDL levels were 3 mg/dl higher among African Bedouins as compared to Middle-Eastern Bedouins (48.3 vs. 44.6 mg/dl, respectively, p<0.001). A lower prevalence of dyslipidemia was found in African Bedouins, as compared with Middle-Eastern Bedouins.

Seasonal patterns of mixed species groups in large East African mammals.

PubMed

Kiffner, Christian; Kioko, John; Leweri, Cecilia; Krause, Stefan

2014-01-01

Mixed mammal species groups are common in East African savannah ecosystems. Yet, it is largely unknown if co-occurrences of large mammals result from random processes or social preferences and if interspecific associations are consistent across ecosystems and seasons. Because species may exchange important information and services, understanding patterns and drivers of heterospecific interactions is crucial for advancing animal and community ecology. We recorded 5403 single and multi-species clusters in the Serengeti-Ngorongoro and Tarangire-Manyara ecosystems during dry and wet seasons and used social network analyses to detect patterns of species associations. We found statistically significant associations between multiple species and association patterns differed spatially and seasonally. Consistently, wildebeest and zebras preferred being associated with other species, whereas carnivores, African elephants, Maasai giraffes and Kirk's dik-diks avoided being in mixed groups. During the dry season, we found that the betweenness (a measure of importance in the flow of information or disease) of species did not differ from a random expectation based on species abundance. In contrast, in the wet season, we found that these patterns were not simply explained by variations in abundances, suggesting that heterospecific associations were actively formed. These seasonal differences in observed patterns suggest that interspecific associations may be driven by resource overlap when resources are limited and by resource partitioning or anti-predator advantages when resources are abundant. We discuss potential mechanisms that could drive seasonal variation in the cost-benefit tradeoffs that underpin the formation of mixed-species groups.

Psychosocial Keys to African American Achievement? Examining the Relationship between Achievement and Psychosocial Variables in High Achieving African Americans

ERIC Educational Resources Information Center

Dixson, Dante D.; Roberson, Cyrell C. B.; Worrell, Frank C.

2017-01-01

Grit, growth mindset, ethnic identity, and other group orientation are four psychosocial variables that have been associated with academic achievement in adolescent populations. In a sample of 105 high achieving African American high school students (cumulative grade point average [GPA] > 3.0), we examined whether these four psychosocial…

African American adolescent perceptions of vulnerability and resilience to HIV.

PubMed

Glenn, Betty L; Wilson, Kathleen P

2008-07-01

HIV/AIDS is growing at a disproportional rate among African American adolescents. This trend has occurred despite the fact that 89% of schools have educational programs on HIV/AIDS. Barriers to effective HIV prevention may be related to a failure to develop educational programs based on the cultural competencies of vulnerable populations such as adolescents who are at risk for HIV. The purpose of this qualitative study was to explore African American adolescent perceptions of vulnerability and resilience to HIV/AIDS within a cultural competency paradigm. A group of 8 adolescents at an African American church participated in a focus group to discuss vulnerability and resilience to HIV. To facilitate discussion, the adolescents developed collages from pictures in African American magazines. Content analysis was used to identify themes. The themes revealed were confidence, safe social activities, innocence, image, music/drug culture, and peer pressure.

Africanization in the United States: replacement of feral European honeybees (Apis mellifera L.) by an African hybrid swarm.

PubMed

Pinto, M Alice; Rubink, William L; Patton, John C; Coulson, Robert N; Johnston, J Spencer

2005-08-01

The expansion of Africanized honeybees from South America to the southwestern United States in <50 years is considered one of the most spectacular biological invasions yet documented. In the American tropics, it has been shown that during their expansion Africanized honeybees have low levels of introgressed alleles from resident European populations. In the United States, it has been speculated, but not shown, that Africanized honeybees would hybridize extensively with European honeybees. Here we report a continuous 11-year study investigating temporal changes in the genetic structure of a feral population from the southern United States undergoing Africanization. Our microsatellite data showed that (1) the process of Africanization involved both maternal and paternal bidirectional gene flow between European and Africanized honeybees and (2) the panmitic European population was replaced by panmitic mixtures of A. m. scutellata and European genes within 5 years after Africanization. The post-Africanization gene pool (1998-2001) was composed of a diverse array of recombinant classes with a substantial European genetic contribution (mean 25-37%). Therefore, the resulting feral honeybee population of south Texas was best viewed as a hybrid swarm.

Time-to-pregnancy and pregnancy outcomes in a South African population

PubMed Central

2010-01-01

Background Time-to-pregnancy (TTP) has never been studied in an African setting and there are no data on the rates of adverse pregnancy outcomes in South Africa. The study objectives were to measure TTP and the rates of adverse pregnancy outcomes in South Africa, and to determine the reliability of the questionnaire tool. Methods The study was cross-sectional and applied systematic stratified sampling to obtain a representative sample of reproductive age women for a South African population. Data on socio-demographic, work, health and reproductive variables were collected on 1121 women using a standardized questionnaire. A small number (n = 73) of randomly selected questionnaires was repeated to determine reliability of the questionnaire. Data was described using simple summary statistics while Kappa and intra-class correlation statistics were calculated for reliability. Results Of the 1121 women, 47 (4.2%) had never been pregnant. Mean gravidity was 2.3 while mean parity was 2.0 There were a total of 2467 pregnancies; most (87%) resulted in live births, 9.5% in spontaneous abortion and 2.2% in still births. The proportion of planned pregnancies was 39% and the median TTP was 6 months. The reliability of the questionnaire for TTP data was good; 63% for all participants and 97% when censored at 14 months. Overall reliability of reporting adverse pregnancy outcomes was very high, ranging from 90 - 98% for most outcomes. Conclusion This is the first comprehensive population-based reproductive health study in South Africa, to describe the biologic fertility of the population, and provides rates for planned pregnancies and adverse pregnancy outcomes. The reliability of the study questionnaire was substantial, with most outcomes within 70 - 100% reliability index. The study provides important public information for health practitioners and researchers in reproductive health. It also highlights the need for public health intervention programmes and epidemiological

Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation.

PubMed

Narang, Ankita; Jha, Pankaj; Kumar, Dhirendra; Kutum, Rintu; Mondal, Anupam Kumar; Dash, Debasis; Mukerji, Mitali

2014-11-13

Admixture mapping has been enormously resourceful in identifying genetic variations linked to phenotypes, adaptation, and diseases. In this study through analysis of copy number variable regions (CNVRs), we report extensive restructuring in the genomes of the recently admixed African-Indian population (OG-W-IP) that inhabits a highly saline environment in Western India. The study included subjects from OG-W-IP (OG), five different Indian and three HapMap populations that were genotyped using Affymetrix version 6.0 arrays. Copy number variations (CNVs) detected using Birdsuite were used to define CNVRs. Population structure with respect to CNVRs was delineated using random forest approach. OG genomes have a surprising excess of CNVs in comparison to other studied populations. Individual ancestry proportions computed using STRUCTURE also reveals a unique genetic component in OGs. Population structure analysis with CNV genotypes indicates OG to be distant from both the African and Indian ancestral populations. Interestingly, it shows genetic proximity with respect to CNVs to only one Indian population IE-W-LP4, which also happens to reside in the same geographical region. We also observe a significant enrichment of molecular processes related to ion binding and receptor activity in genes encompassing OG-specific CNVRs. Our results suggest that retention of CNVRs from ancestral natives and de novo acquisition of CNVRs could accelerate the process of adaptation especially in an extreme environment. Additionally, this population would be enormously useful for dissecting genes and delineating the involvement of CNVs in salt adaptation. © The Author(s) 2014. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

Development and Validation of the Body Size Scale for Assessing Body Weight Perception in African Populations

PubMed Central

Cohen, Emmanuel; Bernard, Jonathan Y.; Ponty, Amandine; Ndao, Amadou; Amougou, Norbert; Saïd-Mohamed, Rihlat; Pasquet, Patrick

2015-01-01

Background The social valorisation of overweight in African populations could promote high-risk eating behaviours and therefore become a risk factor of obesity. However, existing scales to assess body image are usually not accurate enough to allow comparative studies of body weight perception in different African populations. This study aimed to develop and validate the Body Size Scale (BSS) to estimate African body weight perception. Methods Anthropometric measures of 80 Cameroonians and 81 Senegalese were used to evaluate three criteria of adiposity: body mass index (BMI), overall percentage of fat, and endomorphy (fat component of the somatotype). To develop the BSS, the participants were photographed in full face and profile positions. Models were selected for their representativeness of the wide variability in adiposity with a progressive increase along the scale. Then, for the validation protocol, participants self-administered the BSS to assess self-perceived current body size (CBS), desired body size (DBS) and provide a “body self-satisfaction index.” This protocol included construct validity, test-retest reliability and convergent validity and was carried out with three independent samples of respectively 201, 103 and 1115 Cameroonians. Results The BSS comprises two sex-specific scales of photos of 9 models each, and ordered by increasing adiposity. Most participants were able to correctly order the BSS by increasing adiposity, using three different words to define body size. Test-retest reliability was consistent in estimating CBS, DBS and the “body self-satisfaction index.” The CBS was highly correlated to the objective BMI, and two different indexes assessed with the BSS were consistent with declarations obtained in interviews. Conclusion The BSS is the first scale with photos of real African models taken in both full face and profile and representing a wide and representative variability in adiposity. The validation protocol proved its

Sociocultural behavior, sex-biased admixture, and effective population sizes in Central African Pygmies and non-Pygmies.

PubMed

Verdu, Paul; Becker, Noémie S A; Froment, Alain; Georges, Myriam; Grugni, Viola; Quintana-Murci, Lluis; Hombert, Jean-Marie; Van der Veen, Lolke; Le Bomin, Sylvie; Bahuchet, Serge; Heyer, Evelyne; Austerlitz, Frédéric

2013-04-01

Sociocultural phenomena, such as exogamy or phylopatry, can largely determine human sex-specific demography. In Central Africa, diverging patterns of sex-specific genetic variation have been observed between mobile hunter-gatherer Pygmies and sedentary agricultural non-Pygmies. However, their sex-specific demography remains largely unknown. Using population genetics and approximate Bayesian computation approaches, we inferred male and female effective population sizes, sex-specific migration, and admixture rates in 23 Central African Pygmy and non-Pygmy populations, genotyped for autosomal, X-linked, Y-linked, and mitochondrial markers. We found much larger effective population sizes and migration rates among non-Pygmy populations than among Pygmies, in agreement with the recent expansions and migrations of non-Pygmies and, conversely, the isolation and stationary demography of Pygmy groups. We found larger effective sizes and migration rates for males than for females for Pygmies, and vice versa for non-Pygmies. Thus, although most Pygmy populations have patrilocal customs, their sex-specific genetic patterns resemble those of matrilocal populations. In fact, our results are consistent with a lower prevalence of polygyny and patrilocality in Pygmies compared with non-Pygmies and a potential female transmission of reproductive success in Pygmies. Finally, Pygmy populations showed variable admixture levels with the non-Pygmies, with often much larger introgression from male than from female lineages. Social discrimination against Pygmies triggering complex movements of spouses in intermarriages can explain these male-biased admixture patterns in a patrilocal context. We show how gender-related sociocultural phenomena can determine highly variable sex-specific demography among populations, and how population genetic approaches contrasting chromosomal types allow inferring detailed human sex-specific demographic history.

Sociocultural Behavior, Sex-Biased Admixture, and Effective Population Sizes in Central African Pygmies and Non-Pygmies

PubMed Central

Verdu, Paul; Becker, Noémie S.A.; Froment, Alain; Georges, Myriam; Grugni, Viola; Quintana-Murci, Lluis; Hombert, Jean-Marie; Van der Veen, Lolke; Le Bomin, Sylvie; Bahuchet, Serge; Heyer, Evelyne; Austerlitz, Frédéric

2013-01-01

Sociocultural phenomena, such as exogamy or phylopatry, can largely determine human sex-specific demography. In Central Africa, diverging patterns of sex-specific genetic variation have been observed between mobile hunter–gatherer Pygmies and sedentary agricultural non-Pygmies. However, their sex-specific demography remains largely unknown. Using population genetics and approximate Bayesian computation approaches, we inferred male and female effective population sizes, sex-specific migration, and admixture rates in 23 Central African Pygmy and non-Pygmy populations, genotyped for autosomal, X-linked, Y-linked, and mitochondrial markers. We found much larger effective population sizes and migration rates among non-Pygmy populations than among Pygmies, in agreement with the recent expansions and migrations of non-Pygmies and, conversely, the isolation and stationary demography of Pygmy groups. We found larger effective sizes and migration rates for males than for females for Pygmies, and vice versa for non-Pygmies. Thus, although most Pygmy populations have patrilocal customs, their sex-specific genetic patterns resemble those of matrilocal populations. In fact, our results are consistent with a lower prevalence of polygyny and patrilocality in Pygmies compared with non-Pygmies and a potential female transmission of reproductive success in Pygmies. Finally, Pygmy populations showed variable admixture levels with the non-Pygmies, with often much larger introgression from male than from female lineages. Social discrimination against Pygmies triggering complex movements of spouses in intermarriages can explain these male-biased admixture patterns in a patrilocal context. We show how gender-related sociocultural phenomena can determine highly variable sex-specific demography among populations, and how population genetic approaches contrasting chromosomal types allow inferring detailed human sex-specific demographic history. PMID:23300254

Cystic fibrosis in the South West African Afrikaner. An example of population drift, possibly with heterozygote advantage.

PubMed

Super, M

1975-05-10

An incidence of the genetic recessive disease cystic fibrosis (mucoviscidosis) far in excess of that reported recently from other countries, has been encountered in the South West African Afrikaner. This has probably resulted from the immigration of a segment of the South African Afrikaner population rich in the gene, into South West Africa, where, for religious reasons and reasons of geographical isolation, the gene has persisted and, perhaps, increased in frequency. Malaria, which killed many of the early settlers, might have selectively spared carriers of the gene, thus enriching its occurrence in the population. Details of patients, particularly with regard to the criteria of diagnosis, are given with the relevant population and birth figures, from which an estimate of the incidence of the disease and of its carrier rate has been made. Screening of the newborn for the condition and the compiling of a register of potential and obligatory carriers are also discussed.

Estimates of effective population size and inbreeding in South African indigenous chicken populations: implications for the conservation of unique genetic resources.

PubMed

Mtileni, Bohani; Dzama, Kennedy; Nephawe, Khathutshelo; Rhode, Clint

2016-06-01

Conservation of locally adapted indigenous livestock breeds has become an important objective in sustainable animal breeding, as these breeds represent a unique genetic resource. Therefore, the Agricultural Research Council of South Africa initiated a conservation programme for four South African indigenous chicken breeds. The evaluation and monitoring of the genetic constitution of these conservation flocks is important for proper management of the conservation programme. Using molecular genetic analyses, the effective population sizes and relatedness of these conservation flocks were compared to village (field) chicken populations from which they were derived. Genetic diversity within and between these populations are further discussed within the context of population size. The conservation flocks for the respective breeds had relatively small effective population sizes (point estimate range 38.6-78.6) in comparison to the field populations (point estimate range 118.9-580.0). Furthermore, evidence supports a transient heterozygous excess, generally associated with the occurrence of a recent population bottleneck. Genetic diversity, as measured by the number of alleles, heterozygosity and information index, was also significantly reduced in the conservation flocks. The average relatedness amongst the conservation flocks was high, whilst it remained low for the field populations. There was also significant evidence for population differentiation between field and conservation populations. F st estimates for conservation flocks were moderate to high with a maximum reached between VD_C and VD_F (0.285). However, F st estimates for field population were excessively low between the NN_C and EC_F (0.007) and between EC_F and OV_F (0.009). The significant population differentiation of the conservation flocks from their geographically correlated field populations of origin is further supported by the analysis of molecular variance (AMOVA), with 10.51 % of genetic

Pharmacogenomics Implications of Using Herbal Medicinal Plants on African Populations in Health Transition

PubMed Central

Thomford, Nicholas E.; Dzobo, Kevin; Chopera, Denis; Wonkam, Ambroise; Skelton, Michelle; Blackhurst, Dee; Chirikure, Shadreck; Dandara, Collet

2015-01-01

The most accessible points of call for most African populations with respect to primary health care are traditional health systems that include spiritual, religious, and herbal medicine. This review focusses only on the use of herbal medicines. Most African people accept herbal medicines as generally safe with no serious adverse effects. However, the overlap between conventional medicine and herbal medicine is a reality among countries in health systems transition. Patients often simultaneously seek treatment from both conventional and traditional health systems for the same condition. Commonly encountered conditions/diseases include malaria, HIV/AIDS, hypertension, tuberculosis, and bleeding disorders. It is therefore imperative to understand the modes of interaction between different drugs from conventional and traditional health care systems when used in treatment combinations. Both conventional and traditional drug entities are metabolized by the same enzyme systems in the human body, resulting in both pharmacokinetics and pharmacodynamics interactions, whose properties remain unknown/unquantified. Thus, it is important that profiles of interaction between different herbal and conventional medicines be evaluated. This review evaluates herbal and conventional drugs in a few African countries and their potential interaction at the pharmacogenomics level. PMID:26402689

Internet and mobile technology use among urban African American parents: survey study of a clinical population.

PubMed

Mitchell, Stephanie J; Godoy, Leandra; Shabazz, Kanya; Horn, Ivor B

2014-01-13

There is considerable potential for mobile technologies to empower pediatric patients and families by improving their communication with health professionals. National surveys suggest minority parents frequently communicate via mobile technology, but it is uncertain how amenable they are to receiving health care information in this format. Although the low cost and far reach characteristics of mobile health (mHealth) technology makes it advantageous for communication with minority parents, data on acceptance are needed. The objective of the study was to determine utilization of mobile and Internet technology by African American parents in an urban, underserved population, and to assess their interest in receiving health information via text messaging or other technologies (eg, social media and the Internet). A survey was administered to parents of children aged 1-12 years covered by public insurance receiving care at 3 pediatric primary care centers in Washington, DC. The African American sample (N=302) was composed of primarily single (75.8%, 229/302) mothers. Almost half had more than a high school education (47.7%, 144/302) and incomes above US $25,000 per year (43.0%, 130/302). Most (97.0%, 293/302) reported owning a cell phone, of which 91.1% (275/302) used it to text and 78.5% (237/302) used it to access the Internet. Most had service plans with unlimited text and data, but 26.5% (80/302) experienced service interruptions in the previous year. Home Internet access was more prevalent among those with higher income (86.2%, 112/130), but it was still relatively pervasive among lower income families (66.9%, 83/124). In adjusted logistic regression models, African American mothers with income greater than US $25,000 annually were 4 times as likely to own a tablet computer than their lower income counterparts. Of the participants, 80.8% (244/302) used social networking, primarily Facebook, and 74.2% (224/302) were interested in joining a social networking group

Genetic affinities of the Siddis of South India: an emigrant population of East Africa.

PubMed

Gauniyal, Mansi; Chahal, S M S; Kshatriya, Gautam K

2008-06-01

Historical records indicate that the Portuguese brought the African Siddis to Goa, India, as slaves about 500 years ago. Subsequently, the Siddis moved into the interior regions of the state of Karnataka, India, and have remained there ever since. Over time the Siddis have experienced considerable cultural changes because of their proximity to neighboring population groups. To understand the biological consequences of these changes, we studied the Siddis to determine the extent of genetic variation and the contributions from the African, European, and Indian ancestral populations. In the present study we typed the Siddis for 20 polymorphic serological, red cell, and Alu insertion-deletion loci. The overall pattern of phenotype (and genotype) distribution is in accordance with Hardy-Weinberg expectations. Considering the ethnohistorical records and the availability of secondary-source genetic data, we used two data sets in the analysis: one comprising eight serological and red cell enzyme markers with eight population groups and another comprising six Alu insertion-deletion markers with seven tribal groups of South India. The dendrograms generated from these two data sets on the basis of genetic distance analysis between the selected populations of African, European, and Indian descent reveals that the Siddis are closer to the Africans than they are to the South Indian populations. Genetic admixture analysis using a dihybrid model (19 loci) and a trihybrid model (10 loci and 8 loci) shows that the predominant influence comes from the Africans, a lesser contribution from the South Indians, and a slight contribution from the Portuguese. Thus the original composition of the African genes among the Siddis has been diluted to some extent by the contribution from southern Indian population groups. There is no nonrandom association of alleles among a set of 10 genetic marker systems considered in the present study. The demonstration of genetic homogeneity of the Siddis

Dementia Incidence Declined in African Americans, but not in Yoruba

PubMed Central

Gao, Sujuan; Ogunniyi, Adesola; Hall, Kathleen S.; Baiyewu, Olesegun; Unverzagt, Frederick W.; Lane, Kathleen A.; Murrell, Jill R.; Gureje, Oye; Hake, Ann M.; Hendrie, Hugh C

2015-01-01

Background To compare dementia incidence of African American and Yoruba cohorts age 70 or older enrolled in 1992 and 2001. Methods African Americans residing in Indianapolis and Yoruba in Ibadan, Nigeria without dementia were enrolled in 1992 and 2001 and evaluated every two to three years until 2009. The cohorts consist of 1440 African Americans, 1774 Yoruba in 1992 and 1835 African Americans and 1895 Yoruba in the 2001 cohorts age 70 or older. Results In African Americans, dementia and AD incidence rates were significantly lower in 2001 than 1992 for all age groups except the oldest group. The overall standardized annual dementia incidence rates were 3.6% (95% CI: 3.2–4.1%) in the1992 cohort and 1.4% (95% CI: 1.2–1.7%) in the 2001 cohort. There was no significant difference in dementia or AD incidence between the Yoruba cohorts. Conclusions Future research is needed to explore the reasons for the differential changes in incidence rates in these two populations. PMID:26218444

Dementia incidence declined in African-Americans but not in Yoruba.

PubMed

Gao, Sujuan; Ogunniyi, Adesola; Hall, Kathleen S; Baiyewu, Olusegun; Unverzagt, Frederick W; Lane, Kathleen A; Murrell, Jill R; Gureje, Oye; Hake, Ann M; Hendrie, Hugh C

2016-03-01

To compare dementia incidence of African-American and Yoruba cohorts aged ≥70 years enrolled in 1992 and 2001. African-Americans residing in Indianapolis and Yoruba in Ibadan, Nigeria without dementia were enrolled in 1992 and 2001 and evaluated every 2-3 years until 2009. The cohorts consist of 1440 African-Americans, 1774 Yoruba in 1992 and 1835 African-Americans and 1895 Yoruba in the 2001 cohorts aged ≥70 years. In African-Americans, dementia and Alzheimer's disease (AD) incidence rates were significantly lower in 2001 than 1992 for all age groups except the oldest group. The overall standardized annual dementia incidence rates were 3.6% (95% confidence interval [CI], 3.2%-4.1%) in the 1992 cohort and 1.4% (95% CI, 1.2%-1.7%) in the 2001 cohort. There was no significant difference in dementia or AD incidence between the Yoruba cohorts. Future research is needed to explore the reasons for the differential changes in incidence rates in these two populations. Copyright © 2016 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Disaster Impact Across Cultural Groups: Comparison of Whites, African Americans, and Latinos

PubMed Central

Price, Matthew; McCauley, Jenna L.; Ruggiero, Kenneth J.

2015-01-01

The current study extends knowledge regarding the differential impact of natural disasters among White, African American, and Latino survivors of Hurricane Ike through its use of a large, regional sample recruited via representative sampling procedures to examine the associations between cultural identification and disaster impact, including loss, damage, and negative mental health outcomes. Consistent with previous research, results indicated disparities between cultural groups with regard to disaster exposure. Additionally, type of disaster impact was differentially associated with PTSD and depression status dependent on cultural group. Specifically, the extent of personal disaster exposure, property damage, and loss of services made significant contributions to PTSD status among White survivors. African-Americans were more likely than White and Latino Ike survivors to endorse post-disaster PTSD and depression and endorsement of depression was predicted by severity of property damage. With respect to Latino respondents, only the extent of personal disaster exposure significantly contributed to both PTSD and depression status. Implications of the current findings are discussed with regard to future disaster preparedness and response efforts and the implementation and evaluation of community-based disaster resources. PMID:23709270

African American administrators in community/migrant health centers.

PubMed

Glover, S H; Shi, L; Samuels, M E

1997-05-01

Community and migrant health centers (CHC/MHCs) play a secondary role as avenues for the development of minority and women health care professionals, groups traditionally underrepresented in administrative and managerial positions within the health care system. This paper focuses on the role of CHC/MHCs in eliminating the barriers that typically limit the professional advancement of these groups. In a survey of both rural and urban CHC/MHC administrators, it was found that CHC/MHCs have higher percentages of minorities in top management positions than general management but do not necessarily reflect the minority composition of those being served. Of the CHC/MHC administrators, 20 percent were African American, less than the population served (31 percent) but greater than the percentage of African Americans in the general U.S. population (12 percent). This suggests that CHC/MHCs have partially met the original goal of upward mobility and that there is room for improvement.

Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium.

PubMed

Pasaniuc, Bogdan; Zaitlen, Noah; Lettre, Guillaume; Chen, Gary K; Tandon, Arti; Kao, W H Linda; Ruczinski, Ingo; Fornage, Myriam; Siscovick, David S; Zhu, Xiaofeng; Larkin, Emma; Lange, Leslie A; Cupples, L Adrienne; Yang, Qiong; Akylbekova, Ermeg L; Musani, Solomon K; Divers, Jasmin; Mychaleckyj, Joe; Li, Mingyao; Papanicolaou, George J; Millikan, Robert C; Ambrosone, Christine B; John, Esther M; Bernstein, Leslie; Zheng, Wei; Hu, Jennifer J; Ziegler, Regina G; Nyante, Sarah J; Bandera, Elisa V; Ingles, Sue A; Press, Michael F; Chanock, Stephen J; Deming, Sandra L; Rodriguez-Gil, Jorge L; Palmer, Cameron D; Buxbaum, Sarah; Ekunwe, Lynette; Hirschhorn, Joel N; Henderson, Brian E; Myers, Simon; Haiman, Christopher A; Reich, David; Patterson, Nick; Wilson, James G; Price, Alkes L

2011-04-01

While genome-wide association studies (GWAS) have primarily examined populations of European ancestry, more recent studies often involve additional populations, including admixed populations such as African Americans and Latinos. In admixed populations, linkage disequilibrium (LD) exists both at a fine scale in ancestral populations and at a coarse scale (admixture-LD) due to chromosomal segments of distinct ancestry. Disease association statistics in admixed populations have previously considered SNP association (LD mapping) or admixture association (mapping by admixture-LD), but not both. Here, we introduce a new statistical framework for combining SNP and admixture association in case-control studies, as well as methods for local ancestry-aware imputation. We illustrate the gain in statistical power achieved by these methods by analyzing data of 6,209 unrelated African Americans from the CARe project genotyped on the Affymetrix 6.0 chip, in conjunction with both simulated and real phenotypes, as well as by analyzing the FGFR2 locus using breast cancer GWAS data from 5,761 African-American women. We show that, at typed SNPs, our method yields an 8% increase in statistical power for finding disease risk loci compared to the power achieved by standard methods in case-control studies. At imputed SNPs, we observe an 11% increase in statistical power for mapping disease loci when our local ancestry-aware imputation framework and the new scoring statistic are jointly employed. Finally, we show that our method increases statistical power in regions harboring the causal SNP in the case when the causal SNP is untyped and cannot be imputed. Our methods and our publicly available software are broadly applicable to GWAS in admixed populations.

Evaluation of microsatellite markers for populations studies and forensic identification of African lions (Panthera leo).

PubMed

Miller, Susan M; Harper, Cindy K; Bloomer, Paulette; Hofmeyr, Jennifer; Funston, Paul J

2014-01-01

The South African lion (Panthera leo) population is highly fragmented. One-third of its wild lions occur in small (<1000 km(2)) reserves. These lions were reintroduced from other areas of the species' historical range. Management practices on these reserves have not prioritized genetic provenance or heterozygosity. These trends potentially constrain the conservation value of these lions. To ensure the best management and long-term survival of these subpopulations as a viable collective population, the provenance and current genetic diversity must be described. Concurrently, poaching of lions to supply a growing market for lion bones in Asia may become a serious conservation challenge in the future. Having a standardized, validated method for matching confiscated lion parts with carcasses will be a key tool in investigating these crimes. We evaluated 28 microsatellites in the African lion using samples from 18 small reserves and 1 captive facility in South Africa, two conservancies in Zimbabwe, and Kruger National and Kgalagadi Transfrontier Parks to determine the loci most suited for population management and forensic genetic applications. Twelve microsatellite loci with a match probability of 1.1×10(-5) between siblings were identified for forensics. A further 10 could be added for population genetics studies. © The American Genetic Association 2014. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Perceptions of Climate and Student-Faculty Interactions amongst African American Persisters in a Business Program at a Predominantly-White Institution

ERIC Educational Resources Information Center

Allen, Monica E.

2017-01-01

While representation of African American students in freshmen enrollment has improved, degree attainment of African Americans and other minority groups continue to lag behind the White and Asian American populations. Compounding the issue of lower attainment is the issue of degree major. African American students are highly concentrated in…

Seasonal Patterns of Mixed Species Groups in Large East African Mammals

PubMed Central

Kiffner, Christian; Kioko, John; Leweri, Cecilia; Krause, Stefan

2014-01-01

Mixed mammal species groups are common in East African savannah ecosystems. Yet, it is largely unknown if co-occurrences of large mammals result from random processes or social preferences and if interspecific associations are consistent across ecosystems and seasons. Because species may exchange important information and services, understanding patterns and drivers of heterospecific interactions is crucial for advancing animal and community ecology. We recorded 5403 single and multi-species clusters in the Serengeti-Ngorongoro and Tarangire-Manyara ecosystems during dry and wet seasons and used social network analyses to detect patterns of species associations. We found statistically significant associations between multiple species and association patterns differed spatially and seasonally. Consistently, wildebeest and zebras preferred being associated with other species, whereas carnivores, African elephants, Maasai giraffes and Kirk's dik-diks avoided being in mixed groups. During the dry season, we found that the betweenness (a measure of importance in the flow of information or disease) of species did not differ from a random expectation based on species abundance. In contrast, in the wet season, we found that these patterns were not simply explained by variations in abundances, suggesting that heterospecific associations were actively formed. These seasonal differences in observed patterns suggest that interspecific associations may be driven by resource overlap when resources are limited and by resource partitioning or anti-predator advantages when resources are abundant. We discuss potential mechanisms that could drive seasonal variation in the cost-benefit tradeoffs that underpin the formation of mixed-species groups. PMID:25470495

Strategies to Improve HIV Testing in African Americans.

PubMed

Kenya, Sonjia; Okoro, Ikenna; Wallace, Kiera; Carrasquillo, Olveen; Prado, Guillermo

2015-01-01

Only 17% of Miami-Dade County residents are African American, yet this population accounts for 59% of the county's HIV-related mortality. The Centers for Disease Control and Prevention recommend annual testing for persons at increased risk for HIV, but 40% of African Americans have never been tested. OraQuick® (OraSure Technologies, Inc., Bethlehem, PA), the first US Food and Drug Administration-approved home-based HIV rapid test (HBHRT), has the potential to increase testing rates; however, there are concerns about HBHRT in vulnerable populations. We conducted focus groups in an underserved Miami neighborhood to obtain community input regarding HBHRT as a potential mechanism to increase HIV testing in African Americans. We queried HIV knowledge, attitudes toward research, and preferred intervention methods. Several HIV misconceptions were identified, and participants expressed support for HIV research and introducing HBHRT into the community by culturally appropriate individuals trained to provide support. We concluded that community health workers paired with HBHRT were a promising strategy to increase HIV testing in this population. Copyright © 2015 Association of Nurses in AIDS Care. Published by Elsevier Inc. All rights reserved.

A Meta-analysis of Multiple Myeloma Risk Regions in African and European Ancestry Populations Identifies Putatively Functional Loci.

PubMed

Rand, Kristin A; Song, Chi; Dean, Eric; Serie, Daniel J; Curtin, Karen; Sheng, Xin; Hu, Donglei; Huff, Carol Ann; Bernal-Mizrachi, Leon; Tomasson, Michael H; Ailawadhi, Sikander; Singhal, Seema; Pawlish, Karen; Peters, Edward S; Bock, Cathryn H; Stram, Alex; Van Den Berg, David J; Edlund, Christopher K; Conti, David V; Zimmerman, Todd; Hwang, Amie E; Huntsman, Scott; Graff, John; Nooka, Ajay; Kong, Yinfei; Pregja, Silvana L; Berndt, Sonja I; Blot, William J; Carpten, John; Casey, Graham; Chu, Lisa; Diver, W Ryan; Stevens, Victoria L; Lieber, Michael R; Goodman, Phyllis J; Hennis, Anselm J M; Hsing, Ann W; Mehta, Jayesh; Kittles, Rick A; Kolb, Suzanne; Klein, Eric A; Leske, Cristina; Murphy, Adam B; Nemesure, Barbara; Neslund-Dudas, Christine; Strom, Sara S; Vij, Ravi; Rybicki, Benjamin A; Stanford, Janet L; Signorello, Lisa B; Witte, John S; Ambrosone, Christine B; Bhatti, Parveen; John, Esther M; Bernstein, Leslie; Zheng, Wei; Olshan, Andrew F; Hu, Jennifer J; Ziegler, Regina G; Nyante, Sarah J; Bandera, Elisa V; Birmann, Brenda M; Ingles, Sue A; Press, Michael F; Atanackovic, Djordje; Glenn, Martha J; Cannon-Albright, Lisa A; Jones, Brandt; Tricot, Guido; Martin, Thomas G; Kumar, Shaji K; Wolf, Jeffrey L; Deming Halverson, Sandra L; Rothman, Nathaniel; Brooks-Wilson, Angela R; Rajkumar, S Vincent; Kolonel, Laurence N; Chanock, Stephen J; Slager, Susan L; Severson, Richard K; Janakiraman, Nalini; Terebelo, Howard R; Brown, Elizabeth E; De Roos, Anneclaire J; Mohrbacher, Ann F; Colditz, Graham A; Giles, Graham G; Spinelli, John J; Chiu, Brian C; Munshi, Nikhil C; Anderson, Kenneth C; Levy, Joan; Zonder, Jeffrey A; Orlowski, Robert Z; Lonial, Sagar; Camp, Nicola J; Vachon, Celine M; Ziv, Elad; Stram, Daniel O; Hazelett, Dennis J; Haiman, Christopher A; Cozen, Wendy

2016-12-01

Genome-wide association studies (GWAS) in European populations have identified genetic risk variants associated with multiple myeloma. We performed association testing of common variation in eight regions in 1,318 patients with multiple myeloma and 1,480 controls of European ancestry and 1,305 patients with multiple myeloma and 7,078 controls of African ancestry and conducted a meta-analysis to localize the signals, with epigenetic annotation used to predict functionality. We found that variants in 7p15.3, 17p11.2, 22q13.1 were statistically significantly (P < 0.05) associated with multiple myeloma risk in persons of African ancestry and persons of European ancestry, and the variant in 3p22.1 was associated in European ancestry only. In a combined African ancestry-European ancestry meta-analysis, variation in five regions (2p23.3, 3p22.1, 7p15.3, 17p11.2, 22q13.1) was statistically significantly associated with multiple myeloma risk. In 3p22.1, the correlated variants clustered within the gene body of ULK4 Correlated variants in 7p15.3 clustered around an enhancer at the 3' end of the CDCA7L transcription termination site. A missense variant at 17p11.2 (rs34562254, Pro251Leu, OR, 1.32; P = 2.93 × 10 -7 ) in TNFRSF13B encodes a lymphocyte-specific protein in the TNF receptor family that interacts with the NF-κB pathway. SNPs correlated with the index signal in 22q13.1 cluster around the promoter and enhancer regions of CBX7 CONCLUSIONS: We found that reported multiple myeloma susceptibility regions contain risk variants important across populations, supporting the use of multiple racial/ethnic groups with different underlying genetic architecture to enhance the localization and identification of putatively functional alleles. A subset of reported risk loci for multiple myeloma has consistent effects across populations and is likely to be functional. Cancer Epidemiol Biomarkers Prev; 25(12); 1609-18. ©2016 AACR. ©2016 American Association for Cancer Research.

Education, genetic ancestry, and blood pressure in African Americans and Whites.

PubMed

Non, Amy L; Gravlee, Clarence C; Mulligan, Connie J

2012-08-01

We assessed the relative roles of education and genetic ancestry in predicting blood pressure (BP) within African Americans and explored the association between education and BP across racial groups. We used t tests and linear regressions to examine the associations of genetic ancestry, estimated from a genomewide set of autosomal markers, and education with BP variation among African Americans in the Family Blood Pressure Program. We also performed linear regressions in self-identified African Americans and Whites to explore the association of education with BP across racial groups. Education, but not genetic ancestry, significantly predicted BP variation in the African American subsample (b=-0.51 mm Hg per year additional education; P=.001). Although education was inversely associated with BP in the total population, within-group analyses showed that education remained a significant predictor of BP only among the African Americans. We found a significant interaction (b=3.20; P=.006) between education and self-identified race in predicting BP. Racial disparities in BP may be better explained by differences in education than by genetic ancestry. Future studies of ancestry and disease should include measures of the social environment.

Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.

PubMed

Yamaguchi-Kabata, Yumi; Nakazono, Kazuyuki; Takahashi, Atsushi; Saito, Susumu; Hosono, Naoya; Kubo, Michiaki; Nakamura, Yusuke; Kamatani, Naoyuki

2008-10-01

Because population stratification can cause spurious associations in case-control studies, understanding the population structure is important. Here, we examined Japanese population structure by "Eigenanalysis," using the genotypes for 140,387 SNPs in 7003 Japanese individuals, along with 60 European, 60 African, and 90 East-Asian individuals, in the HapMap project. Most Japanese individuals fell into two main clusters, Hondo and Ryukyu; the Hondo cluster includes most of the individuals from the main islands in Japan, and the Ryukyu cluster includes most of the individuals from Okinawa. The SNPs with the greatest frequency differences between the Hondo and Ryukyu clusters were found in the HLA region in chromosome 6. The nonsynonymous SNPs with the greatest frequency differences between the Hondo and Ryukyu clusters were the Val/Ala polymorphism (rs3827760) in the EDAR gene, associated with hair thickness, and the Gly/Ala polymorphism (rs17822931) in the ABCC11 gene, associated with ear-wax type. Genetic differentiation was observed, even among different regions in Honshu Island, the largest island of Japan. Simulation studies showed that the inclusion of different proportions of individuals from different regions of Japan in case and control groups can lead to an inflated rate of false-positive results when the sample sizes are large.

Eliminating health disparities in the African American population: the interface of culture, gender, and power.

PubMed

Airhihenbuwa, Collins O; Liburd, Leandris

2006-08-01

Since the release of former Secretary Margaret Heckler's Secretary's Task Force Report on Black and Minority Health more than two decades ago, excess death from chronic diseases and other conditions between African Americans and Whites have increased. The conclusion of that report emphasized excess death and thus clinical care, paying little attention to the sociocultural environment and its effects on risk of disease. The authors of this article contend that eliminating health disparities between the African American and White populations in the United States requires a focus on improving the social environment of African Americans. They examine the interface of culture, gender, and power and how those are central to analysis of the root causes of health disparities. The REACH 2010 project of the Centers for Disease Control offers examples on how a coalition of community and research organizations can infuse community interventions with informed considerations of culture, gender, and power to eliminate health disparities.

Synergism between urinary prothrombin fragment 1 and urine: a comparison of inhibitory activities in stone-prone and stone-free population groups.

PubMed

Webber, Dawn; Rodgers, Allen L; Sturrock, Edward D

2002-09-01

South African blacks rarely form kidney stones compared with whites. This study investigated whether purified urinary prothrombin fragment 1 (UPTF1) derived from blacks is a more potent inhibitor of calcium oxalate crystallisation than that from whites. UPTF1 was purified from the urine of both population groups and their inhibitory activities were compared in a cross-over design in which each protein was tested in ultrafiltered urine from both population groups. Coulter Multisizer, [14C]-oxalate deposition and scanning electron microscopy experiments were used to monitor crystallisation. The study has demonstrated for the first time that UPTF1 promotes nucleation and that inhibitory activity is synergistically dependent upon urine composition. The activity of the whites' UPTF1 was greater than that of the blacks in the whites' urine (e.g. particle size decrease: 31.7% vs. 25.2%), while the blacks' UPTF1 was superior to that of the whites in the blacks' urine (e.g. particle size decrease: 46.5% vs. 32.4%). In addition, when tested in their respective endogenous urines, the blacks' UPTF1 demonstrated superior inhibitory activity on an absolute scale (e.g. particle size decrease: 46.5% vs. 31.7%). Thus, the urine composition of black South Africans may influence their UPTF1 conformation, conferring greater efficacy for inhibition of calcium oxalate crystallisation.

African American Fathers' Occupational Participation: "Keeping the Mothers in a Positive Vibe".

PubMed

Pizur-Barnekow, Kris; Pate, David; Lazar, Katie; Paul, Nelly; Pritchard, Kathleen; Morris, George

2017-10-01

Infant mortality is a major public health issue in the United States that disproportionally affects African Americans. Evidence suggests reducing stress on African American women and engaging African American fathers may improve health and social outcomes for families. This study sought to understand the experiences of African American fathers through a positivistic lens and to inform future interventions that support father engagement. A descriptive, qualitative study using the Person, Environment, Occupation-Performance (PEO-P) model as a framework for analysis was conducted involving 45 fathers participating in four focus groups and one member-checking group. An initial content analysis was followed by constant comparative methods to identify categories related to the PEO-P model. Transcripts revealed a range of factors that enable or inhibit fathers' occupational performance and engagement including environmental barriers such as societal expectations and perceptions. Occupational therapy practitioners may utilize population health approaches to support African American fathers' occupational engagement.

"Now the African reigns supreme": the rise of African boxing on the Witwatersrand, 1924-1959.

PubMed

Fleming, Tyler

2011-01-01

This essay explores the growth of boxing among the African populations on the Witwatersrand region of South Africa between 1924 and 1959. It details how the sport's jump in popularity with Africans paralleled migration to Johannesburg. Africans increasingly saw boxing as an activity and skill conducive with survival in this new environment, and thus the sport grew in popularity, stature, and skill-level amongst this emergent urban population. The essay further explores the various ways that the sport was disseminated and popularized during the era, thus detailing how the sport reached both the African masses and petit-bourgeois educated elite. As their presence in Johannesburg became more and more permanent, boxing came to encompass various meanings and ideals, such as notions of discipline, independence and civility, to these urban populations.

Changes in body mass, stature and BMI in South African elite U18 Rugby players from different racial groups from 2002-2012.

PubMed

Durandt, Justin; Green, Mervin; Masimla, Herman; Lambert, Mike

2018-03-01

The purpose of this study was to determine whether there are differences between racial groups for body mass, stature and body mass index (BMI) in South African elite U18 rugby players and whether there were significant changes in these measurements between 2002 and 2012. Self-reported body mass and stature were obtained from U18 players (n = 4007) who attended the national tournament during this period. BMI was calculated for each player.White players were 9.8 kg heavier than black players, who were 2.3 kg heavier than coloured players (P < 0.0001). The body mass of all groups increased from 2002 to 2012 (P < 0.0001). White players were 7.0 cm taller than black players who were 0.5 cm taller than coloured players (P < 0.0001). Players' stature measurements did not change significantly during the study period. The average BMI of white players was 0.9 kg·m -2  greater than black players who were on average 0.7 kg·m -2  greater than coloured players (P < 0.0001). The BMI of all groups changed similarly over the study period. The body mass, stature and BMI of elite under-18 rugby players in South Africa were significantly different between racial groups. This has implications for transforming the game to make it representative of the South African population.

[Abdominal obesity and other cardiometabolic risk biomarkers: influence of socioeconomic status and lifestyle on two African-origin population groups, Cotonou (Benin) and Port-au-Prince (Haiti)].

PubMed

Mabchour, Asma El; Delisle, Hélène; Vilgrain, Colette; Larco, Phillipe; Sodjinou, Roger

2016-01-01

Increased cardio metabolic risk (CMR) in low- and middle-income countries is largely due to rapid nutrition transition. We conducted a study of two African-origin populations groups living, however, in widely different settings. It aimed to assess the relationship between lifestyle and CMR biomarkers as well as between abdominal obesity (AO) and other biomarkers. The study included 200 Benineses from Cotonou and 252 Haitians from Port-with-Prince (PAP) aged between 25 to 60 years and apparently in good health. AO was specifically defined as waist circumference ≥ 88cm (men) and ≥ 95 cm (women). Other most common biomarkers were: high total cholesterol/HDL cholesterol ratio, high blood pressure and insulin resistance by HOMA (Homeostasis Model Assessement). Socioeconomic status, diet, alcohol and tobacco were documented by questionnaire. Two dietary patterns emerged from cluster analysis, one traditional and the other "transitional" with increasing frequency of western foods. Socioeconomic status, consumption of alcohol and nicotinism were associated with CMR, but not the food diagram. AO was associated with other CMR markers, with no marked effect of socioeconomic status and lifestyle variables. Specific TT threshold values are confirmed as socioeconomic status and lifestyle have an impact on CMR, but not the relationship between AO and other CMR biomarkers.

Randomized Controlled Trial of Group-Based Culturally Specific Cognitive Behavioral Therapy Among African American Smokers.

PubMed

Webb Hooper, Monica; Antoni, Michael H; Okuyemi, Kolawole; Dietz, Noella A; Resnicow, Ken

2017-03-01

This study tested the efficacy of group-based culturally specific cognitive behavioral therapy (CBT) for smoking cessation among low-income African Americans. Participants (N = 342; 63.8% male; M = 49.5 years old; M cigarettes per day = 18) were randomly assigned to eight sessions of group-based culturally specific or standard CBT, plus 8 weeks of transdermal nicotine patches. Biochemically verified 7-day point prevalence abstinence (ppa) was assessed at the end-of-therapy (ie, CBT) (EOT), and 3-, 6-, and 12-month follow-ups. Primary outcomes were the longitudinal intervention effect over the 12-month follow-up period, and 7-day ppa at the 6-month follow-up. Secondary outcomes included 7-day ppa at the EOT and 12-month follow-up, and intervention ratings. Generalized linear mixed modeling tested the longitudinal effect and logistic regression tested effects at specific timepoints. Generalized linear mixed modeling demonstrated a longitudinal effect of intervention condition. Specifically, 7-day ppa was two times (P = .02) greater following culturally specific CBT versus standard CBT when tested across all timepoints. Analyses by timepoint found no significant difference at 6 or 12 months, yet culturally specific CBT was efficacious at the EOT (62.5% vs. 51.5% abstinence, P = .05) and the 3-month follow-up (36.4% vs. 22.9% abstinence, P = .007). Finally, intervention ratings in both conditions were high, with no significant differences. Culturally specific CBT had a positive longitudinal effect on smoking cessation compared to a standard approach; however, the effects were driven by short-term successes. We recommend the use of group-based culturally specific CBT in this population when possible, and future research on methods to prevent long-term relapse. Culturally specific interventions are one approach to address smoking-related health disparities; however, evidence for their efficacy in African Americans is equivocal. Moreover, the methodological limitations of

Prevalence of Hb S (HHB: c.20A > T) in a Honduran population of African descent.

PubMed

Erazo, Brian M; Ramírez, Gilberto A; Cerrato, Linda E; Pinto, Luis J; Castro, Edder J; Yanez, Néstor J; Montoya, Brayan; Fontecha, Gustavo A

2015-01-01

Sickle cell disease is the most common hemoglobinopathy worldwide, particularly in Africa and among people of African descent. Serious clinical consequences characterize the homozygous condition. To determine the prevalence of Hb S (HBB: c.20A > T) and anemia in a community of people of African descent from Honduras, 202 individuals were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The high prevalence found indicates that it is necessary to implement a program to prevent the consequences of this disease in vulnerable populations of Honduras.

Variations in first-time caesarean birth between Eastern African immigrants and Australian-born women in public care: A population-based investigation in Victoria.

PubMed

Belihu, Fetene B; Small, Rhonda; Davey, Mary-Ann

2017-06-01

Caesarean section (CS) rates are known to vary by country, migration status and social group. However, little population-based, confounder adjusted evidence exists on caesarean rate for African immigrants in Australia. To investigate disparities in first-time caesarean, mainly unplanned caesarean in labour for women born in Eritrea, Ethiopia, Somalia and Sudan relative to Australian-born women in public care. A population-based study of 237 943 Australian and 4057 Eastern African singleton births between 1999 and 2007, was conducted using Victorian Perinatal Data Collection. Descriptive and multivariable logistic regression analysis by parity, adjusting for confounders selected a priori, was performed for first-time unplanned caesarean in labour and overall caesarean. Primiparae born in each of the Eastern African countries had elevated odds of unplanned caesarean in labour: Eritrea adjusted odds ratio (OR adj ) 2.04 95% CI (1.41, 2.97), Ethiopia OR adj 2.08 95% CI (1.62, 2.68), Somalia OR adj 1.62 95% CI (1.25, 2.10) and Sudan OR adj 1.39 95% CI (1.03, 1.87). Similarly, multiparae from Eastern African countries had elevated odds of unplanned caesarean in labour: Eritrea OR adj 2.13 95%CI(1.15, 3.97), Ethiopia OR adj 2.05 95% CI (1.38, 3.03), Somalia OR adj 2.16 95% CI (1.69, 2.77) and Sudan OR adj 1.81 95% CI (1.32, 2.49). The odds of any first-time caesarean (planned or unplanned) were elevated for primiparae born in all countries except Sudan and for multiparae born in Ethiopia and Somalia. We observed substantial variations in a first-time CS between Eastern African and Australian-born women in Victoria, Australia. However, these disparities were unexplained by socio-demographic and clinical risks, suggesting the potential importance of other factors such as communication difficulties, support systems for immigrant pregnant women and possible differences in care. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

Disease Management to Promote Blood Pressure Control Among African Americans

PubMed Central

Brennan, Troyen; Villagra, Victor; Ofili, Elizabeth; McMahill-Walraven, Cheryl; Lowy, Elizabeth J.; Daniels, Pamela; Quarshie, Alexander; Mayberry, Robert

2010-01-01

Abstract African Americans have a higher prevalence of hypertension and poorer cardiovascular and renal outcomes than white Americans. The objective of this study was to determine whether a telephonic nurse disease management (DM) program designed for African Americans is more effective than a home monitoring program alone to increase blood pressure (BP) control among African Americans enrolled in a national health plan. A prospective randomized controlled study (March 2006—December 2007) was conducted, with 12 months of follow-up on each subject. A total of 5932 health plan members were randomly selected from the population of self-identified African Americans, age 23 and older, in health maintenance organization plans, with hypertension; 954 accepted, 638 completed initial assessment, and 485 completed follow-up assessment. The intervention consisted of telephonic nurse DM (intervention group) including educational materials, lifestyle and diet counseling, and home BP monitor vs. home BP monitor alone (control group). Measurements included proportion with BP < 120/80, mean systolic BP, mean diastolic BP, and frequency of BP self-monitoring. Results revealed that systolic BP was lower in the intervention group (adjusted means 123.6 vs. 126.7 mm Hg, P = 0.03); there was no difference for diastolic BP. The intervention group was 50% more likely to have BP in control (odds ratio [OR] = 1.50, 95% confidence interval [CI] 0.997–2.27, P = 0.052) and 46% more likely to monitor BP at least weekly (OR 1.46, 95% CI 1.07–2.00, P = 0.02) than the control group. A nurse DM program tailored for African Americans was effective at decreasing systolic BP and increasing the frequency of self-monitoring of BP to a greater extent than home monitoring alone. Recruitment and program completion rates could be improved for maximal impact. (Population Health Management 2010;13:65–72) PMID:20415618

Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations

PubMed Central

Liang, Jingjing; Le, Thu H.; Edwards, Digna R. Velez; Tayo, Bamidele O.; Gaulton, Kyle J.; Lu, Yingchang; Jensen, Richard A.; Chen, Guanjie; Schwander, Karen; McKenzie, Colin A.; Fox, Ervin; Nalls, Michael A.; Young, J. Hunter; Lane, Jacqueline M.; Zhou, Jie; Tang, Hua; Fornage, Myriam; Musani, Solomon K.; Wang, Heming; Forrester, Terrence; Chu, Pei-Lun; Evans, Michele K.; Morrison, Alanna C.; Martin, Lisa W.; Wiggins, Kerri L.; Hui, Qin; Zhao, Wei; Jackson, Rebecca D.; Faul, Jessica D.; Reiner, Alex P.; Bray, Michael; Denny, Joshua C.; Mosley, Thomas H.; Palmas, Walter; Guo, Xiuqing; Polak, Joseph F.; Taylor, Ken D.; Boerwinkle, Eric; Bottinger, Erwin P.; Liu, Kiang; Risch, Neil; Hunt, Steven C.; Kooperberg, Charles; Zonderman, Alan B.; Becker, Diane M.; Cai, Jianwen; Loos, Ruth J. F.; Psaty, Bruce M.; Weir, David R.; Kardia, Sharon L. R.; Arnett, Donna K.; Won, Sungho; Edwards, Todd L.; Redline, Susan; Cooper, Richard S.; Rao, D. C.; Rotimi, Charles; Levy, Daniel; Chakravarti, Aravinda

2017-01-01

Hypertension is a leading cause of global disease, mortality, and disability. While individuals of African descent suffer a disproportionate burden of hypertension and its complications, they have been underrepresented in genetic studies. To identify novel susceptibility loci for blood pressure and hypertension in people of African ancestry, we performed both single and multiple-trait genome-wide association analyses. We analyzed 21 genome-wide association studies comprised of 31,968 individuals of African ancestry, and validated our results with additional 54,395 individuals from multi-ethnic studies. These analyses identified nine loci with eleven independent variants which reached genome-wide significance (P < 1.25×10−8) for either systolic and diastolic blood pressure, hypertension, or for combined traits. Single-trait analyses identified two loci (TARID/TCF21 and LLPH/TMBIM4) and multiple-trait analyses identified one novel locus (FRMD3) for blood pressure. At these three loci, as well as at GRP20/CDH17, associated variants had alleles common only in African-ancestry populations. Functional annotation showed enrichment for genes expressed in immune and kidney cells, as well as in heart and vascular cells/tissues. Experiments driven by these findings and using angiotensin-II induced hypertension in mice showed altered kidney mRNA expression of six genes, suggesting their potential role in hypertension. Our study provides new evidence for genes related to hypertension susceptibility, and the need to study African-ancestry populations in order to identify biologic factors contributing to hypertension. PMID:28498854

Parental Perceptions of Home Internet Use among Rural African American Families

ERIC Educational Resources Information Center

Smith, Jeananne Oldham

2008-01-01

Despite the growth of home Internet use over the past decade, disparities still exist among certain socioeconomic groups of the population. Rural, lower socioeconomic and African Americans fall further behind in technology access than any other group. The purpose of this ex post facto qualitative study was to investigate parental perceptions…

CYP2A6 reduced activity gene variants confer reduction in lung cancer risk in African American smokers--findings from two independent populations.

PubMed

Wassenaar, Catherine A; Ye, Yuanqing; Cai, Qiuyin; Aldrich, Melinda C; Knight, Joanne; Spitz, Margaret R; Wu, Xifeng; Blot, William J; Tyndale, Rachel F

2015-01-01

We investigated genetic variation in CYP2A6 in relation to lung cancer risk among African American smokers, a high-risk population. Previously, we found that CYP2A6, a nicotine/nitrosamine metabolism gene, was associated with lung cancer risk in European Americans, but smoking habits, lung cancer risk and CYP2A6 gene variants differ significantly between European and African ancestry populations. Herein, African American ever-smokers, drawn from two independent lung cancer case-control studies, were genotyped for reduced activity CYP2A6 alleles and grouped by predicted metabolic activity. Lung cancer risk in the Southern Community Cohort Study (n = 494) was lower among CYP2A6 reduced versus normal metabolizers, as estimated by multivariate conditional logistic regression [odds ratio (OR) = 0.44; 95% confidence interval (CI) = 0.26-0.73] and by unconditional logistic regression (OR = 0.62; 95% CI = 0.41-0.94). The association was replicated in an independent study from MD Anderson Cancer Center (n = 407) (OR = 0.64; 95% CI = 0.42-0.98), and pooling the studies yielded an OR of 0.64 (95% CI = 0.48-0.86). Exploratory analyses revealed a significant interaction between CYP2A6 genotype and sex on the risk for lung cancer (Southern Community Cohort Study: P = 0.04; MD Anderson: P = 0.03; Pooled studies: P = 0.002) with a CYP2A6 effect in men only. These findings support a contribution of genetic variation in CYP2A6 to lung cancer risk among African American smokers, particularly men, whereby CYP2A6 genotypes associated with reduced metabolic activity confer a lower risk of developing lung cancer. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

CYP2A6 reduced activity gene variants confer reduction in lung cancer risk in African American smokers—findings from two independent populations

PubMed Central

Wassenaar, Catherine A.; Ye, Yuanqing; Cai, Qiuyin; Aldrich, Melinda C.; Knight, Joanne; Spitz, Margaret R.; Wu, Xifeng; Blot, William J.; Tyndale, Rachel F.

2015-01-01

We investigated genetic variation in CYP2A6 in relation to lung cancer risk among African American smokers, a high-risk population. Previously, we found that CYP2A6, a nicotine/nitrosamine metabolism gene, was associated with lung cancer risk in European Americans, but smoking habits, lung cancer risk and CYP2A6 gene variants differ significantly between European and African ancestry populations. Herein, African American ever-smokers, drawn from two independent lung cancer case–control studies, were genotyped for reduced activity CYP2A6 alleles and grouped by predicted metabolic activity. Lung cancer risk in the Southern Community Cohort Study (n = 494) was lower among CYP2A6 reduced versus normal metabolizers, as estimated by multivariate conditional logistic regression [odds ratio (OR) = 0.44; 95% confidence interval (CI) = 0.26–0.73] and by unconditional logistic regression (OR = 0.62; 95% CI = 0.41–0.94). The association was replicated in an independent study from MD Anderson Cancer Center (n = 407) (OR = 0.64; 95% CI = 0.42–0.98), and pooling the studies yielded an OR of 0.64 (95% CI = 0.48–0.86). Exploratory analyses revealed a significant interaction between CYP2A6 genotype and sex on the risk for lung cancer (Southern Community Cohort Study: P = 0.04; MD Anderson: P = 0.03; Pooled studies: P = 0.002) with a CYP2A6 effect in men only. These findings support a contribution of genetic variation in CYP2A6 to lung cancer risk among African American smokers, particularly men, whereby CYP2A6 genotypes associated with reduced metabolic activity confer a lower risk of developing lung cancer. PMID:25416559

Enhanced blood pressure variability in a high cardiovascular risk group of African Americans: FIT4Life Study.

PubMed

Veerabhadrappa, Praveen; Diaz, Keith M; Feairheller, Deborah L; Sturgeon, Kathleen M; Williamson, Sheara; Crabbe, Deborah L; Kashem, Abul; Ahrensfield, Debra; Brown, Michael D

2010-01-01

High blood pressure (BP) levels in African Americans elicit vascular inflammation resulting in vascular remodeling. BP variability (BPV) correlates with target organ damage. We aimed to investigate the relationship between inflammatory markers and BPV in African Americans. Thirty-six African Americans underwent 24-hour ambulatory BP monitoring (ABPM). BPV was calculated using the average real variability index. Fasting blood samples were assayed for high-sensitivity C-reactive protein (hs-CRP), tumor necrosis factor-alpha (TNF-alpha), and white blood cell (WBC) count. Significant associations between hs-CRP and 24-hour systolic variability (r=0.50; P=.012) and awake systolic variability (r=0.45; P=.02) were identified after adjusting for age, body mass index, and 24-hour mean BP. ABPM variables were compared between the hs-CRP tertile groups. In post-hoc analysis, there was a significant difference in 24-hour and awake periods for both systolic and diastolic variability among the groups. TNF-alpha and WBC count showed no associations with ABPM variables. hs-CRP was associated with systolic variability, and higher levels of hs-CRP were related with greater BPV. Higher inflammatory status influences wider fluctuations in systolic BP, which in turn could facilitate early progression to target organ damage independent of absolute BP levels in African Americans.

Population genetics of the potentially invasive African fruit fly species, Ceratitis rosa and Ceratitis fasciventris (Diptera: Tephritidae).

PubMed

Baliraine, F N; Bonizzoni, M; Guglielmino, C R; Osir, E O; Lux, S A; Mulaa, F J; Gomulski, L M; Zheng, L; Quilici, S; Gasperi, G; Malacrida, A R

2004-03-01

A set of 10 microsatellite markers was used to survey the levels of genetic variability and to analyse the genetic aspects of the population dynamics of two potentially invasive pest fruit fly species, Ceratitis rosa and C. fasciventris, in Africa. The loci were derived from the closely related species, C. capitata. The degree of microsatellite polymorphism in C. rosa and C. fasciventris was extensive and comparable to that of C. capitata. In C. rosa, the evolution of microsatellite polymorphism in its distribution area reflects the colonization history of this species. The mainland populations are more polymorphic than the island populations. Low levels of differentiation were found within the Africa mainland area, while greater levels of differentiation affect the islands. Ceratitis fasciventris is a central-east African species. The microsatellite data over the Uganda/Kenya spatial scale suggest a recent expansion and possibly continuing gene flow within this area. The microsatellite variability data from C. rosa and C. fasciventris, together with those of C. capitata, support the hypothesis of an east African origin of the Ceratitis spp.

Suicide Attempts in an African Schizophrenia Population: An Assessment of Demographic Risk Factors

ERIC Educational Resources Information Center

Niehaus, D.J.H.; Laurent, C.; Jordaan, E.; Koen, L.; Oosthuizen, P.; Keyter, N.; Muller, J. E.; Mbanga, N. I.; Deleuze, J.-F.; Mallet, J.; Stein, D. J.; Emsley, R.

2004-01-01

This study investigated demographic variables, including affected sibling pair status, as risk factors for suicidal behavior in schizophrenia patients of African (Xhosa) descent. Xhosa subjects with schizophrenia were interviewed with the Diagnostic Interview for Genetic Studies (DIGS) and then stratified into two groups: those with ( n = 90) and…

Serum cholinesterase variants in African leprosy patients resident in Rhodesia.

PubMed

Whittaker, M; Lowe, R F; Ellis, B P

1976-01-01

Blood samples from 580 African leprosy patients living in Rhodesia have been phenotyped for the plasma cholinesterase variants. The Africans have been grouped according to country of origin and tribal affiliation. We have found no individual with an Ea1 gene and are unable to resolve the contradictory evidence for an association between this gene and leprosy. The frequency of the Ef1 gene is higher than that usually found in Caucasian populations, being 0.046 in lepromatous leprosy patients and similar to the 0.056 found in healthy African controls. In tuberculoid leprosy patients the frequency is, however, significantly lower at 0.019. On the other hand, the frequency of the C5+ variant is essentially the same for the tuberculoid leprosy patients and the healthy controls (4%) while for the lepromatous leprosy patients it is about 7% approaching the 10-15% found in many Caucasian populations.

The social and ecological integration of captive-raised adolescent male African elephants (Loxodonta africana) into a wild population.

PubMed

Evans, Kate; Moore, Randall; Harris, Stephen

2013-01-01

A rapid rise in the number of captive African elephants (Loxodonta africana) used in the tourism industry in southern Africa and orphaned elephants in human care has led to concerns about their long-term management, particularly males. One solution is to release them into the wild at adolescence, when young males naturally leave their herd. However, this raises significant welfare concerns: little is known about how well released elephants integrate into wild populations and whether they pose a greater threat to humans than wild elephants. We document the release of three captive-raised adolescent male African elephants in the Okavango Delta, Botswana. Despite having been part of a herd of working elephants for at least eight years, the three males progressively integrated into the complex fission-fusion society of wild bull elephants. In the three years following release, they showed no tendency to be closer to human habitation, and there were no significant differences between wild and captive-raised adolescent males in the total number of social interactions, size of ranges and habitat use. However, the captive-raised elephants sparred less and vocalised more, and spent more time alone and in smaller social groups. Thereafter the released elephants continued to expand their ranges and interact with both mixed-sex herds and males. One male was shot by farmers 94 months after release, along with ten wild elephants, on a ranch outside the protected area. We show that captive-raised adolescent male elephants can integrate into a wild population. Long-term studies are required to determine the longevity, breeding success, and eventual fate of released male elephants, but we identified no significant short-term welfare problems for the released elephants or recipient population. Release of captive-raised mammals with complex social systems is a husbandry option that should be explored further.

The Social and Ecological Integration of Captive-Raised Adolescent Male African Elephants (Loxodonta africana) into a Wild Population

PubMed Central

Evans, Kate; Moore, Randall; Harris, Stephen

2013-01-01

Background A rapid rise in the number of captive African elephants (Loxodonta africana) used in the tourism industry in southern Africa and orphaned elephants in human care has led to concerns about their long-term management, particularly males. One solution is to release them into the wild at adolescence, when young males naturally leave their herd. However, this raises significant welfare concerns: little is known about how well released elephants integrate into wild populations and whether they pose a greater threat to humans than wild elephants. We document the release of three captive-raised adolescent male African elephants in the Okavango Delta, Botswana. Methodology/Principal Findings Despite having been part of a herd of working elephants for at least eight years, the three males progressively integrated into the complex fission-fusion society of wild bull elephants. In the three years following release, they showed no tendency to be closer to human habitation, and there were no significant differences between wild and captive-raised adolescent males in the total number of social interactions, size of ranges and habitat use. However, the captive-raised elephants sparred less and vocalised more, and spent more time alone and in smaller social groups. Thereafter the released elephants continued to expand their ranges and interact with both mixed-sex herds and males. One male was shot by farmers 94 months after release, along with ten wild elephants, on a ranch outside the protected area. Conclusions/Significance We show that captive-raised adolescent male elephants can integrate into a wild population. Long-term studies are required to determine the longevity, breeding success, and eventual fate of released male elephants, but we identified no significant short-term welfare problems for the released elephants or recipient population. Release of captive-raised mammals with complex social systems is a husbandry option that should be explored further. PMID

Addressing cancer control needs of African-born immigrants in the US: a systematic literature review.

PubMed

Hurtado-de-Mendoza, Alejandra; Song, Minna; Kigen, Ocla; Jennings, Yvonne; Nwabukwu, Ify; Sheppard, Vanessa B

2014-10-01

Compared to non-Hispanic Whites, African immigrants have worse cancer outcomes. However, there is little research about cancer behaviors and/or interventions in this growing population as they are generally grouped with populations from America or the Caribbean. This systematic review examines cancer-related studies that included African-born participants. We searched PsycINFO, Ovid Medline, Pubmed, CINHAL, and Web of Science for articles focusing on any type of cancer that included African-born immigrant participants. Twenty articles met study inclusion criteria; only two were interventions. Most articles focused on one type of cancer (n=11) (e.g., breast cancer) and were conducted in disease-free populations (n=15). Studies included African participants mostly from Nigeria (n=8) and Somalia (n=6). However, many papers (n=7) did not specify nationality or had small percentages (<5%) of African immigrants (n=5). Studies found lower screening rates in African immigrants compared to other subpopulations (e.g. US-born). Awareness of screening practices was limited. Higher acculturation levels were associated with higher screening rates. Barriers to screening included access (e.g. insurance), pragmatic (e.g. transportation), and psychosocial barriers (e.g. shame). Interventions to improve cancer outcomes in African immigrants are needed. Research that includes larger samples with diverse African subgroups including cancer survivors is necessary to inform future directions. Copyright © 2014 Elsevier Inc. All rights reserved.

Addressing Cancer Control Needs of African-born Immigrants in the US: A Systematic Literature Review

PubMed Central

Hurtado-de-Mendoza, Alejandra; Song, Minna; Kigen, Ocla; Jennings, Yvonne; Nwabukwu, Ify; Sheppard, Vanessa B.

2014-01-01

Compared to non-Hispanic Whites, African immigrants have worse cancer outcomes. However, there is little research about cancer behaviors and/or interventions in this growing population as they are generally grouped with populations from America or the Caribbean. This systematic review examines cancer-related studies that included African-born participants. We searched PsychINFO, Ovid Medline, Pubmed, CINHAL, and Web of Science for articles focusing on any type of cancer that included African-born immigrant participants. Twenty articles met study inclusion criteria; only two were interventions. Most articles focused on one type of cancer (n=11) (e.g., breast cancer) and were conducted in disease-free populations (n=15). Studies included African participants mostly from Nigeria (n=8) and Somalia (n=6). However, many papers (n=7) did not specify nationality or had small percentages (<5%) of African immigrants (n=5). Studies found lower screening rates in African immigrants compared to other subpopulations (e.g. US born). Awareness of screening practices was limited. Higher acculturation levels were associated with higher screening rates. Barriers to screening included access (e.g. insurance), pragmatic (e.g. transportation), and psychosocial barriers (e.g. shame). Interventions to improve cancer outcomes in African immigrants are needed. Research that includes larger samples with diverse African subgroups including cancer survivors are necessary to inform future directions. PMID:25034729

Cis-Regulatory Variants Affect CHRNA5 mRNA Expression in Populations of African and European Ancestry

PubMed Central

Wang, Jen-Chyong; Spiegel, Noah; Bertelsen, Sarah; Le, Nhung; McKenna, Nicholas; Budde, John P.; Harari, Oscar; Kapoor, Manav; Brooks, Andrew; Hancock, Dana; Tischfield, Jay; Foroud, Tatiana; Bierut, Laura J.; Steinbach, Joe Henry; Edenberg, Howard J.; Traynor, Bryan J.; Goate, Alison M.

2013-01-01

Variants within the gene cluster encoding α3, α5, and β4 nicotinic receptor subunits are major risk factors for substance dependence. The strongest impact on risk is associated with variation in the CHRNA5 gene, where at least two mechanisms are at work: amino acid variation and altered mRNA expression levels. The risk allele of the non-synonymous variant (rs16969968; D398N) primarily occurs on the haplotype containing the low mRNA expression allele. In populations of European ancestry, there are approximately 50 highly correlated variants in the CHRNA5-CHRNA3-CHRNB4 gene cluster and the adjacent PSMA4 gene region that are associated with CHRNA5 mRNA levels. It is not clear which of these variants contribute to the changes in CHRNA5 transcript level. Because populations of African ancestry have reduced linkage disequilibrium among variants spanning this gene cluster, eQTL mapping in subjects of African ancestry could potentially aid in defining the functional variants that affect CHRNA5 mRNA levels. We performed quantitative allele specific gene expression using frontal cortices derived from 49 subjects of African ancestry and 111 subjects of European ancestry. This method measures allele-specific transcript levels in the same individual, which eliminates other biological variation that occurs when comparing expression levels between different samples. This analysis confirmed that substance dependence associated variants have a direct cis-regulatory effect on CHRNA5 transcript levels in human frontal cortices of African and European ancestry and identified 10 highly correlated variants, located in a 9 kb region, that are potential functional variants modifying CHRNA5 mRNA expression levels. PMID:24303001

Do microplastic loads reflect the population demographics along the southern African coastline?

PubMed

Nel, Holly Astrid; Hean, Jeffrey William; Noundou, Xavier Siwe; Froneman, Pierre William

2017-02-15

Plastic pollution is a major anthropogenic contaminant effecting the marine environment and is often associated with high human population densities and industrial activities. The microplastic (63 to 5000μm) burden of beach sediment and surf-zone water was investigated at selected sites along the entire length of the South African coastline. It was predicted that samples collected in areas of high population density, would contain a higher microplastic burden than those along coasts that demonstrate very low population densities. With the exception of water column microplastics within Richard's Bay Harbour (413.3±77.53particles·m -3 ) and Durban Harbour (1200±133.2particles·m -3 ), there were no significant spatial differences in microplastic loads. This supports the theory that harbours act as a source of microplastics for the surrounding marine environment. Additionally, the absence of any spatial variation highlights the possible long range distribution of microplastic pollutants by large scale ocean currents. Copyright © 2017 Elsevier Ltd. All rights reserved.

Uric acid and the cardiovascular profile of African and Caucasian men.

PubMed

Palmer, I M; Schutte, A E; Huisman, H W

2010-10-01

The African population is considered a high-risk group for the development of hypertension, and identifying risk factors are therefore essential in preventive actions against cardiovascular disease (CVD). Elevated levels of uric acid (UA) are often associated with CVD. Our first aim was to establish possible ethnic differences in UA levels between African and Caucasian men. Our second aim was to determine any associations between UA levels and cardio-metabolic variables, and also how these correlates differ between the two groups. African (N=87) and Caucasian (N=121) men participated in this cross-sectional study. Our results have shown that African men had significantly lower (353±87.7 vs 401±98.2; P<0.01) UA levels compared with Caucasian men. Waist circumference and triglycerides correlated strongly with UA in both ethnic groups. This was confirmed with a forward stepwise multiple regression analysis. After adjustment for confounders, the correlation between UA and triglycerides remained significant only in the Caucasians (r=0.29; P=0.02), whereas only the African men showed an independent correlation between UA and total peripheral resistance (TPR) (r=0.23; P=0.04). TPR increased significantly across UA tertiles only in the African men (P=0.01 vs P=0.96). In conclusion, despite their lower UA levels, Africans showed an independent relationship between UA and vascular resistance, indicating a possible explanation for their high prevalence of hypertension.

Prevalence of Mycoplasma genitalium in different population groups: systematic review andmeta-analysis.

PubMed

Baumann, Lukas; Cina, Manuel; Egli-Gany, Dianne; Goutaki, Myrofora; Halbeisen, Florian S; Lohrer, Gian-Reto; Ali, Hammad; Scott, Pippa; Low, Nicola

2018-06-01

Mycoplasma genitalium is a common cause of non-gonococcal non-chlamydial urethritis and cervicitis. Testing of asymptomatic populations has been proposed, but prevalence in asymptomatic populations is not well established. We aimed to estimate the prevalence of M. genitalium in the general population, pregnant women, men who have sex with men (MSM), commercial sex workers (CSWs) and clinic-based samples, METHODS: We searched Embase, Medline, IndMED, African Index Medicus and LILACS from 1 January 1991 to 12 July 2016 without language restrictions. We included studies with 500 participants or more. Two reviewers independently screened and selected studies and extracted data. We examined forest plots and conducted random-effects meta-analysis to estimate prevalence, if appropriate. Between-study heterogeneity was examined using the I 2 statistic and meta-regression. Of 3316 screened records, 63 were included. In randomly selected samples from the general population, the summary prevalence was 1.3% (95% CI 1.0% to 1.8%, I 2 41.5%, three studies, 9091 people) in countries with higher levels of development and 3.9% (95% CI 2.2 to 6.7, I 2 89.2%, three studies, 3809 people) in countries with lower levels. Prevalence was similar in women and men (P=0.47). In clinic based samples, prevalence estimates were higher, except in asymptomatic patients (0.8%, 95% CI 0.4 to 1.4, I 2 0.0%, three studies, 2889 people). Summary prevalence estimates were, in the following groups: pregnant women 0.9% (95% CI 0.6% to 1.4%, I 2 0%, four studies, 3472 people), MSM in the community 3.2% (95% CI 2.1 to 5.1, I 2 78.3%, five studies, 3012 people) and female CSWs in the community 15.9% (95% CI 13.5 to 18.9, I 2 79.9%, four studies, 4006 people). This systematic review can inform testing guidelines for M. genitalium . The low estimated prevalence of M. genitalium in the general population, pregnant women and asymptomatic attenders at clinics does not support expansion of testing to these

Individualized head-related transfer functions based on population grouping.

PubMed

Xu, Song; Li, Zhizhong; Salvendy, Gavriel

2008-11-01

A method is proposed to divide a population into different groups for partial individualization of head-related transfer functions (HRTFs). Borrowing the basic idea in sizing system design, factor analysis is used to identify the most representative measurements which are then in a case study used to group the population. The comparison between the group mean HRTFs and the population mean HRTFs shows that the group mean HRTFs could greatly reduce spectral distortion at most sampled positions.

Internet and Mobile Technology Use Among Urban African American Parents: Survey Study of a Clinical Population

PubMed Central

Godoy, Leandra; Shabazz, Kanya

2014-01-01

joining a social networking group about a health topic concerning their child. Although relatively few African American mothers (17.9%, 54/302) shared health information via texting, there was strong interest in receiving health information via mobile phones (87.4%, 264/302). There was no significant difference in Internet/mobile device use or interest in using these outlets to send/receive information about their children’s health between parents of healthy children and parents of children with chronic health conditions. Conclusions Urban African American parents are active users of the Internet and mobile technology for social interactions, but they are less likely to use it for accessing or communicating health information. However, most parents expressed an interest in receiving health information or utilizing social networking to learn more about health topics. Mobile technology and social networks may be an underutilized method of providing health information to underserved minority populations. PMID:24418967

Y Chromosome Lineages in Men of West African Descent

PubMed Central

Keita, Shomarka O. Y.; Kittles, Rick A.

2012-01-01

The early African experience in the Americas is marked by the transatlantic slave trade from ∼1619 to 1850 and the rise of the plantation system. The origins of enslaved Africans were largely dependent on European preferences as well as the availability of potential laborers within Africa. Rice production was a key industry of many colonial South Carolina low country plantations. Accordingly, rice plantations owners within South Carolina often requested enslaved Africans from the so-called “Grain Coast” of western Africa (Senegal to Sierra Leone). Studies on the African origins of the enslaved within other regions of the Americas have been limited. To address the issue of origins of people of African descent within the Americas and understand more about the genetic heterogeneity present within Africa and the African Diaspora, we typed Y chromosome specific markers in 1,319 men consisting of 508 west and central Africans (from 12 populations), 188 Caribbeans (from 2 islands), 532 African Americans (AAs from Washington, DC and Columbia, SC), and 91 European Americans. Principal component and admixture analyses provide support for significant Grain Coast ancestry among African American men in South Carolina. AA men from DC and the Caribbean showed a closer affinity to populations from the Bight of Biafra. Furthermore, 30–40% of the paternal lineages in African descent populations in the Americas are of European ancestry. Diverse west African ancestries and sex-biased gene flow from EAs has contributed greatly to the genetic heterogeneity of African populations throughout the Americas and has significant implications for gene mapping efforts in these populations. PMID:22295064

Y chromosome lineages in men of west African descent.

PubMed

Torres, Jada Benn; Doura, Menahem B; Keita, Shomarka O Y; Kittles, Rick A

2012-01-01

The early African experience in the Americas is marked by the transatlantic slave trade from ∼1619 to 1850 and the rise of the plantation system. The origins of enslaved Africans were largely dependent on European preferences as well as the availability of potential laborers within Africa. Rice production was a key industry of many colonial South Carolina low country plantations. Accordingly, rice plantations owners within South Carolina often requested enslaved Africans from the so-called "Grain Coast" of western Africa (Senegal to Sierra Leone). Studies on the African origins of the enslaved within other regions of the Americas have been limited. To address the issue of origins of people of African descent within the Americas and understand more about the genetic heterogeneity present within Africa and the African Diaspora, we typed Y chromosome specific markers in 1,319 men consisting of 508 west and central Africans (from 12 populations), 188 Caribbeans (from 2 islands), 532 African Americans (AAs from Washington, DC and Columbia, SC), and 91 European Americans. Principal component and admixture analyses provide support for significant Grain Coast ancestry among African American men in South Carolina. AA men from DC and the Caribbean showed a closer affinity to populations from the Bight of Biafra. Furthermore, 30-40% of the paternal lineages in African descent populations in the Americas are of European ancestry. Diverse west African ancestries and sex-biased gene flow from EAs has contributed greatly to the genetic heterogeneity of African populations throughout the Americas and has significant implications for gene mapping efforts in these populations.

African Americans & Hispanics among Physics & Astronomy Faculty: Results from the 2012 Survey of Physics & Astronomy Degree-Granting Departments. Focus On

ERIC Educational Resources Information Center

Ivie, Rachel; Anderson, Garrett; White, Susan

2014-01-01

The United States is becoming more and more diverse, but the representation of some minority groups in physics and astronomy lags behind. Although 13% of the US population is African American or black, and 17% is Hispanic (US Census), the representation of these two groups in physics and astronomy is much lower. For this reason, African Americans…

Examining spiritual support among African American and Caucasian Alzheimer's caregivers: A risk and resilience study.

PubMed

Wilks, Scott E; Spurlock, Wanda R; Brown, Sandra C; Teegen, Bettina C; Geiger, Jennifer R

2018-05-25

Research shows African Americans at greater risk of developing Alzheimer's disease (AD) compared to the Caucasian population, suggesting African American AD caregivers are rising in numbers at a greater rate than Caucasian counterparts. Over a decade ago, an article in Geriatric Nursing revealed spiritual well-being differences among these caregiver groups. The purpose of this study was a quasi-follow-up, utilizing a larger caregiver sample to test spiritual support as a moderator via a risk-and-resilience framework. Secondary data analysis from a sample of 691 AD caregivers examined data on demographics and standardized measures of spiritual support, caregiver burden, and psychological resilience. One-third of the sample reported as African American. Resilience negatively regressed, though not significantly, on caregiving burden among both groups. Spiritual support positively, significantly impacted resilience among both groups, slightly stronger among African Americans. Spiritual support did not significantly moderate risk with either group. Implications for professional healthcare practice are discussed. Copyright © 2018 Elsevier Inc. All rights reserved.

Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

PubMed

Smyth, Natalie; Ramsay, Michèle; Raal, Frederick J

2018-04-01

To describe the prevalence and population-specific genetic heterogeneity of familial hypercholesterolemia in South Africa. This review highlights the paucity of data on familial hypercholesterolemia in South Africa, and the urgent need to uncover the mutation profiles in lipid-associated genes, causing an increase in LDL-cholesterol in the different ethnic groups. Case reports and small studies have shown that familial hypercholesterolemia, although apparently uncommon, is present in black Africans. Local founder effects have led to an increased prevalence of familial hypercholesterolemia in several South African populations: Afrikaner founder mutations (c.681 C>G, c.1285 G>A, c.523 G>A), Ashkenazi founder mutation (c.654_656del) and possible Indian founder mutation (c.2054 C>T). Preliminary data in black Africans with elevated LDL-cholesterol identified a possible common mutation, c.137_142del. The South African multiethnic society and well described founder effects emphasize the need for differential approaches to diagnosis and management of familial hypercholesterolemia. Studies involving larger cohorts and inclusive of different ethnicities are paramount to establishing an accurate prevalence of familial hypercholesterolemia in black Africans, not only in South Africa but in the Sub-Saharan African region. It is clear that the estimated world prevalence of one in 250 cannot be generally applied across African populations.

Education, Genetic Ancestry, and Blood Pressure in African Americans and Whites

PubMed Central

Gravlee, Clarence C.; Mulligan, Connie J.

2012-01-01

Objectives. We assessed the relative roles of education and genetic ancestry in predicting blood pressure (BP) within African Americans and explored the association between education and BP across racial groups. Methods. We used t tests and linear regressions to examine the associations of genetic ancestry, estimated from a genomewide set of autosomal markers, and education with BP variation among African Americans in the Family Blood Pressure Program. We also performed linear regressions in self-identified African Americans and Whites to explore the association of education with BP across racial groups. Results. Education, but not genetic ancestry, significantly predicted BP variation in the African American subsample (b = −0.51 mm Hg per year additional education; P = .001). Although education was inversely associated with BP in the total population, within-group analyses showed that education remained a significant predictor of BP only among the African Americans. We found a significant interaction (b = 3.20; P = .006) between education and self-identified race in predicting BP. Conclusions. Racial disparities in BP may be better explained by differences in education than by genetic ancestry. Future studies of ancestry and disease should include measures of the social environment. PMID:22698014

Pleistocene North African genomes link Near Eastern and sub-Saharan African human populations.

PubMed

van de Loosdrecht, Marieke; Bouzouggar, Abdeljalil; Humphrey, Louise; Posth, Cosimo; Barton, Nick; Aximu-Petri, Ayinuer; Nickel, Birgit; Nagel, Sarah; Talbi, El Hassan; El Hajraoui, Mohammed Abdeljalil; Amzazi, Saaïd; Hublin, Jean-Jacques; Pääbo, Svante; Schiffels, Stephan; Meyer, Matthias; Haak, Wolfgang; Jeong, Choongwon; Krause, Johannes

2018-05-04

North Africa is a key region for understanding human history, but the genetic history of its people is largely unknown. We present genomic data from seven 15,000-year-old modern humans, attributed to the Iberomaurusian culture, from Morocco. We find a genetic affinity with early Holocene Near Easterners, best represented by Levantine Natufians, suggesting a pre-agricultural connection between Africa and the Near East. We do not find evidence for gene flow from Paleolithic Europeans to Late Pleistocene North Africans. The Taforalt individuals derive one-third of their ancestry from sub-Saharan Africans, best approximated by a mixture of genetic components preserved in present-day West and East Africans. Thus, we provide direct evidence for genetic interactions between modern humans across Africa and Eurasia in the Pleistocene. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Cardiovascular disease risk factors and socio-economic position of Africans in transition: the THUSA study

PubMed Central

Vorster, HH; Kruger, A; Venter, CS; Margetts, BM; Macintyre, UE

2007-01-01

Summary Summary In many developing countries with advanced stages of the nutrition transition, the burden of coronary artery disease (CAD) has shifted from the rich to the poor. In South Africa, it is mainly the African population that is experiencing rapid urbanisation and the nutrition transition. It is not clear where the burden of CAD lies in this population group. We tried to answer this question by comparing CAD risk factors within African groups of different socio-economic positions (characterised by total household income and education level) that participated in the THUSA study from 1996 to 1998. The THUSA study was a cross-sectional population-based epidemiological study that examined the influence of urbanisation and related changes in lifestyle and eating patterns on health and disease risk. A total of 1 854 apparently healthy African volunteers were recruited from 37 randomly chosen sites in rural and urban areas of the North-West Province. The results indicated that although the group with the highest socio-economic position had significantly lower serum glucose levels, systolic blood pressures, higher micronutrient intakes and fewer smokers, their sustained increases in total and saturated fat intakes and higher serum total and LDL cholesterol levels, as well as increased body mass indices in men suggested that at that point in time and possibly in the foreseeable future, the burden of CAD will be carried by those Africans with higher socio-economic positions. PMID:17957323

TP53 mutations in primary breast carcinomas from white and African-Brazilian patients.

PubMed

Nagai, Maria Aparecida; Schaer Barbosa, Helenemarie; Zago, Marco Antonio; Araújo Silva, Wilson; Nishimoto, Inês Nobuko; Salaorni, Sibeli; Guerreiro Costa, Lívia Nery Franco; Silva Araújo, Marcos; Caldas Oliveira, Ana Gabriela; Mourâo Neto, Mário; Brentani, Maria Mitzi

2003-07-01

We have attempted to determine the incidence, nature and clinical significance of TP53 mutation in a group of white (242 cases) and African-Brazilian (52 cases) patients with breast cancer. The interethnic admixture as estimated by STR markers showed that white subjects displayed 67.9+/-0.4%, 25.0+/-1.7% and 7.0%+/-1.6% and the black populations had 34.4+/-1.9%, 56.2+/-1.9 and 9.4+/-2.2% respectively of European, African and Amerindian genes. Clinical parameters such as age, lymph node status and steroid receptors were similar in both groups. African-Brazilian patients presented more advanced lesions. Mutation screening was performed using polymerase chain reaction-single strand conformation analysis followed by sequencing. Compared to whites (13.6%), a relatively high frequency of TP53 mutation was found in blacks (32.7%) (p=0.001). African-Brazilian women have a larger proportion of mutations in exons 5 and 7, whereas white women have more mutations in exon 8. Mutations within exon 4 were found only in tumors of white patients. The spectra of TP53 mutations show that A:T-->G:C nucleotide transversion and G:C-->C:G transition were more common in African-Brazilian women whereas G:C-->T:A transversion occurs very frequently in whites. A high prevalence of G:C-->A:T nucleotide transitions and deletions was detected in both groups. No association was found between p53 gene mutation and tumor or clinical parameters independently of the ethnic group. With a median follow-up of 35.6 months for whites and 43.4 months for the blacks, no differences in overall survival were found. If white patients were stratified according to the type and location of TP53 mutations, patients with mutations affecting amino acids directly involved in DNA or Zn binding displayed a poor prognosis. The pattern of mutations found in our population seems to reflect a base line pattern observed in populations with similar ethnic profile with some modifications, which might be derived from specific

Dual African Origins of Global Aedes aegypti s.l. Populations Revealed by Mitochondrial DNA

PubMed Central

Moore, Michelle; Sylla, Massamba; Goss, Laura; Burugu, Marion Warigia; Sang, Rosemary; Kamau, Luna W.; Kenya, Eucharia Unoma; Bosio, Chris; Munoz, Maria de Lourdes; Sharakova, Maria; Black, William Cormack

2013-01-01

Background Aedes aegypti is the primary global vector to humans of yellow fever and dengue flaviviruses. Over the past 50 years, many population genetic studies have documented large genetic differences among global populations of this species. These studies initially used morphological polymorphisms, followed later by allozymes, and most recently various molecular genetic markers including microsatellites and mitochondrial markers. In particular, since 2000, fourteen publications and four unpublished datasets have used sequence data from the NADH dehydrogenase subunit 4 mitochondrial gene to compare Ae. aegypti collections and collectively 95 unique mtDNA haplotypes have been found. Phylogenetic analyses in these many studies consistently resolved two clades but no comprehensive study of mtDNA haplotypes have been made in Africa, the continent in which the species originated. Methods and Findings ND4 haplotypes were sequenced in 426 Ae. aegypti s.l. from Senegal, West Africa and Kenya, East Africa. In Senegal 15 and in Kenya 7 new haplotypes were discovered. When added to the 95 published haplotypes and including 6 African Aedes species as outgroups, phylogenetic analyses showed that all but one Senegal haplotype occurred in a basal clade while most East African haplotypes occurred in a second clade arising from the basal clade. Globally distributed haplotypes occurred in both clades demonstrating that populations outside Africa consist of mixtures of mosquitoes from both clades. Conclusions Populations of Ae. aegypti outside Africa consist of mosquitoes arising from one of two ancestral clades. One clade is basal and primarily associated with West Africa while the second arises from the first and contains primarily mosquitoes from East Africa PMID:23638196

Tobacco Withdrawal Amongst African American, Hispanic, and White Smokers

PubMed Central

Bello, Mariel S.; Pang, Raina D.; Cropsey, Karen L.; Zvolensky, Michael J.; Reitzel, Lorraine R.; Huh, Jimi

2016-01-01

Abstract Introduction: Persistent tobacco use among racial and ethnic minority populations in the United States is a critical public health concern. Yet, potential sources of racial/ethnic disparities in tobacco use remain unclear. The present study examined racial/ethnic differences in tobacco withdrawal—a clinically-relevant underpinning of tobacco use that has received sparse attention in the disparities literature—utilizing a controlled laboratory design. Methods: Daily smokers (non-Hispanic African American [n = 178], non-Hispanic white [n = 118], and Hispanic [n = 28]) attended two counterbalanced sessions (non-abstinent vs. 16-hour abstinent). At both sessions, self-report measures of urge, nicotine withdrawal, and affect were administered and performance on an objective behavioral task that assessed motivation to reinstate smoking was recorded. Abstinence-induced changes (abstinent scores vs. non-abstinent scores) were analyzed as a function of race/ethnicity. Results: Non-Hispanic African American smokers reported greater abstinence-induced declines in several positive affect states in comparison to other racial/ethnic groups. Relative to Hispanic smokers, non-Hispanic African American and non-Hispanic white smokers displayed larger abstinence-provoked increases in urges to smoke. No racial/ethnic differences were detected for a composite measure of nicotine withdrawal symptomatology, negative affect states, and motivation to reinstate smoking behavior. Conclusions: These results suggest qualitative differences in the expression of some components of tobacco withdrawal across three racial/ethnic groups. This research helps shed light on bio-behavioral sources of tobacco-related health disparities, informs the application of smoking cessation interventions across racial/ethnic groups, and may ultimately aid the overall effort towards reducing the public health burden of tobacco addiction in minority populations. Implications: The current study provides

Population genetic analysis among five Indian population groups using six microsatellite markers.

PubMed

Ghosh, Anu; Das, Birajalaxmi; Seshadri, M

2003-04-01

Genetic variation at six tetranucleotide microsatellites (HUMTHO1, HUMVWA, F13A01, D3S1359, D12S66, and D12S67) has heen determined in five endogamous ethnic population groups of India belonging to two major linguistic families. The populations analyzed were Konkanastha Brahmins and Marathas (Maharashtra state) from the Indo-Aryan linguistic family and Nairs, Ezhavas, and Muslims (Kerala state) from the Dravidian family. All six loci show high gene diversity, ranging from 0.63 +/- 0.04 to 0.84 +/- 0.02. The average GST value observed was 1.7%, indicating that the differences between the populations account for less than 2% of the diversity, while the genetic variation is high within the five population groups studied (>98%). The phylogenetic tree fails to show any clear cluster. The absence of any cluster along with low average GST is suggestive of substantial genetic similarity among the studied populations, in spite of clear geographical, linguistic, and cultural barriers. This similarity indicates either a greater gene flow between these groups or, alternatively, may reflect a recent evolution for them, considering that the Indian caste system evolved only about 3000 years ago.

Prevalence, Determinants, and Clinical Significance of Masked Hypertension in a Population-Based Sample of African Americans: The Jackson Heart Study.

PubMed

Diaz, Keith M; Veerabhadrappa, Praveen; Brown, Michael D; Whited, Matthew C; Dubbert, Patricia M; Hickson, DeMarc A

2015-07-01

The disproportionate rates of cardiovascular disease in African Americans may, in part, be due to suboptimal assessment of blood pressure (BP) with clinic BP measurements alone. To date, however, the prevalence of masked hypertension in African Americans has not been fully delineated. The purpose of this study was to evaluate masked hypertension prevalence in a large population-based sample of African Americans and examine its determinants and association with indices of target organ damage (TOD). Clinic and 24-hour ambulatory BP monitoring were conducted in 972 African Americans enrolled in the Jackson Heart Study. Common carotid artery intima-media thickness, left ventricular mass index, and the urinary albumin:creatinine excretion ratio were evaluated as indices of TOD. Masked hypertension prevalence was 25.9% in the overall sample and 34.4% in participants with normal clinic BP. All indices of TOD were significantly higher in masked hypertensives compared to sustained normotensives and were similar between masked hypertensives and sustained hypertensives. Male gender, smoking, diabetes, and antihypertensive medication use were independent determinants of masked hypertension in multivariate analyses. In this population-based cohort of African Americans, approximately one-third of participants with presumably normal clinic BP had masked hypertension when BP was assessed in their daily environment. Masked hypertension was accompanied by a greater degree of TOD in this cohort. © American Journal of Hypertension, Ltd 2014. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Evolutionary dynamics of general group interactions in structured populations

NASA Astrophysics Data System (ADS)

Li, Aming; Broom, Mark; Du, Jinming; Wang, Long

2016-02-01

The evolution of populations is influenced by many factors, and the simple classical models have been developed in a number of important ways. Both population structure and multiplayer interactions have been shown to significantly affect the evolution of important properties, such as the level of cooperation or of aggressive behavior. Here we combine these two key factors and develop the evolutionary dynamics of general group interactions in structured populations represented by regular graphs. The traditional linear and threshold public goods games are adopted as models to address the dynamics. We show that for linear group interactions, population structure can favor the evolution of cooperation compared to the well-mixed case, and we see that the more neighbors there are, the harder it is for cooperators to persist in structured populations. We further show that threshold group interactions could lead to the emergence of cooperation even in well-mixed populations. Here population structure sometimes inhibits cooperation for the threshold public goods game, where depending on the benefit to cost ratio, the outcomes are bistability or a monomorphic population of defectors or cooperators. Our results suggest, counterintuitively, that structured populations are not always beneficial for the evolution of cooperation for nonlinear group interactions.

Outlining the Ancestry Landscape of Colombian Admixed Populations

PubMed Central

Ossa, Humberto; Aquino, Juliana; Pereira, Rui; Ibarra, Adriana; Ossa, Rafael H; Pérez, Luz Adriana; Granda, Juan David; Lattig, Maria Claudia; Groot, Helena; Fagundes de Carvalho, Elizeu; Gusmão, Leonor

2016-01-01

The ancestry of the Colombian population comprises a large number of well differentiated Native communities belonging to diverse linguistic groups. In the late fifteenth century, a process of admixture was initiated with the arrival of the Europeans, and several years later, Africans also became part of the Colombian population. Therefore, the genepool of the current Colombian population results from the admixture of Native Americans, Europeans and Africans. This admixture occurred differently in each region of the country, producing a clearly stratified population. Considering the importance of population substructure in both clinical and forensic genetics, we sought to investigate and compare patterns of genetic ancestry in Colombia by studying samples from Native and non-Native populations living in its 5 continental regions: the Andes, Caribe, Amazonia, Orinoquía, and Pacific regions. For this purpose, 46 AIM-Indels were genotyped in 761 non-related individuals from current populations. Previously published genotype data from 214 Colombian Natives from five communities were used for population comparisons. Significant differences were observed between Native and non-Native populations, among non-Native populations from different regions and among Native populations from different ethnic groups. The Pacific was the region with the highest African ancestry, Amazonia harboured the highest Native ancestry and the Andean and Orinoquían regions showed the highest proportion of European ancestry. The Andean region was further sub-divided into 6 sub-regions: North East, Central West, Central East, West, South West and South East. Among these regions, the South West region showed a significantly lower European admixture than the other regions. Hardy-Weinberg equilibrium and variance values of ancestry among individuals within populations showed a potential stratification of the Pacific population. PMID:27736937

Stigma Reduction Among African American Women with HIV: UNITY Health Study.

PubMed

Rao, Deepa; Kemp, Christopher G; Huh, David; Nevin, Paul E; Turan, Janet; Cohn, Susan E; Simoni, Jane M; Andrasik, Michele; Molina, Yamile; Mugavero, Michael J; French, Audrey L

2018-03-08

African American women encounter disproportionately high rates of HIVrelated morbidity and mortality which is partially mediated through stigma and its effect on HIV treatment adherence. To assess the effect of the UNITY peer support workshop on HIV-related stigma among African American women living with HIV, compared to a time and attention control group. African American women living with HIV were randomized to the UNITY workshop or a breast cancer education control group. Interventions took place in HIV clinics in Chicago, IL and Birmingham, AL. Participants self-reported HIV-related stigma and social support at baseline, post-workshop, and 4 follow-up visits over 12 months. 239 participants (UNITY n=124; breast cancer education n=115) were assessed over one year. Both arms experienced decreases in mean stigma scores over time. Our model estimated that allocation to UNITY was not associated with a significant difference in stigma points over time. Post-hoc analysis suggested that preceding increases in perceived social support are associated with decreased HIVrelated stigma in this population. Although UNITY did not significantly reduce HIV-related stigma in this population, our findings suggest that social support may be key to HIV-related stigma reduction.

Association between Paraoxonase 1 (PON1) Polymorphisms and the Risk of Acute Coronary Syndrome in a North African Population

PubMed Central

Bounafaa, Abdelghani; Berrougui, Hicham; Ghalim, Noreddine; Nasser, Boubker; Bagri, Abdallah; Moujahid, Abderrahmane; Ikhlef, Souad; Camponova, Pamela; Yamoul, Najoua; Simo, Olivier Kamtchueng; Essamadi, Abdelkhalid; Khalil, Abdelouahed

2015-01-01

The purpose of the present study was to investigate the distribution of PON1 Q192R and L55M polymorphisms and activities in a North African population and to determine their association with cardiovascular complications. The prevalence of the QQ, QR, RR, LL, LM, and MM genotypes in the study population was 55.4%, 34.09%, 9.83%, 41.97%, 48.20%, and 9.83% respectively. The Q, R, L, and M alleles had a gene frequency of 0.755, 0.245, 0.67, and 0.33, respectively. The PON1 192 RR genotype was significantly more prevalent among ACS patients than among healthy subjects. There was a 4.33-fold increase in the risk of ACS in subjects presenting the PON1 192 RR genotype compared to those with the QQ genotype (OR=4.33; 95% CI=1.27–17.7). There was a significantly different distribution of PON1 L55M in the ACS patient groups (UA, STEMI, NSTEMI). Moreover, individuals presenting the PON1 55MM genotype present a higher risk for ACS than those with LL genotype (OR=3.69; 95% CI=1.61–11.80). Paraoxonase activities were significantly lower in coronary patients than in healthy subjects. The decrease in PON1 activity was inversely correlated with the number of concomitant risk factors for CVD (r=0.57, p<0.0001). The results of the present study suggested that the PON1 R and M alleles may play a role in the pathogenesis of cardiac ischemia in our North African population and that a decrease in PON1 activity may be a valuable marker for monitoring the development of the atherosclerosis process and the associated cardiovascular complications. PMID:26241956

A High-Density Admixture Map for Disease Gene Discovery in African Americans

PubMed Central

Smith, Michael W. ; Patterson, Nick ; Lautenberger, James A. ; Truelove, Ann L. ; McDonald, Gavin J. ; Waliszewska, Alicja ; Kessing, Bailey D. ; Malasky, Michael J. ; Scafe, Charles ; Le, Ernest ; De Jager, Philip L. ; Mignault, Andre A. ; Yi, Zeng ; de Thé, Guy ; Essex, Myron ; Sankalé, Jean-Louis ; Moore, Jason H. ; Poku, Kwabena ; Phair, John P. ; Goedert, James J. ; Vlahov, David ; Williams, Scott M. ; Tishkoff, Sarah A. ; Winkler, Cheryl A. ; De La Vega, Francisco M. ; Woodage, Trevor ; Sninsky, John J. ; Hafler, David A. ; Altshuler, David ; Gilbert, Dennis A. ; O’Brien, Stephen J. ; Reich, David 

2004-01-01

Admixture mapping (also known as “mapping by admixture linkage disequilibrium,” or MALD) provides a way of localizing genes that cause disease, in admixed ethnic groups such as African Americans, with ∼100 times fewer markers than are required for whole-genome haplotype scans. However, it has not been possible to perform powerful scans with admixture mapping because the method requires a dense map of validated markers known to have large frequency differences between Europeans and Africans. To create such a map, we screened through databases containing ∼450,000 single-nucleotide polymorphisms (SNPs) for which frequencies had been estimated in African and European population samples. We experimentally confirmed the frequencies of the most promising SNPs in a multiethnic panel of unrelated samples and identified 3,011 as a MALD map (1.2 cM average spacing). We estimate that this map is ∼70% informative in differentiating African versus European origins of chromosomal segments. This map provides a practical and powerful tool, which is freely available without restriction, for screening for disease genes in African American patient cohorts. The map is especially appropriate for those diseases that differ in incidence between the parental African and European populations. PMID:15088270

Critical Race Theory: A Counternarrative of African American Male Medical Students Attending Predominately White Medical Schools

ERIC Educational Resources Information Center

Morgan, Adrienne L.

2013-01-01

The history of African Americans seeking medical education in the United States is rooted in a legacy of racial segregation, cultural constructs, and legal doctrine that differs from other ethnic and racial groups. The disturbing results of this legacy are that while African Americans account for 12.9% of the U.S. population, they only account for…

Self-care and mothering in African American women with HIV/AIDS.

PubMed

Shambley-Ebron, Donna Z; Boyle, Joyceen S

2006-02-01

African American women are the most rapidly growing group of people in the United States diagnosed with HIV/AIDS. The purpose of this study was to explore experiences of self-care and mothering among African American women with HIV/AIDS. It is important to recognize how culture affects illness management, childrearing, and daily living to design culturally appropriate nursing interventions for African American women. Critical ethnography was used to study 10 African American mothers from the rural Southeast who were HIV positive and mothered children who were HIV positive. Domains derived from the research were disabling relationships, strong mothering, and redefining self-care. The cultural theme was creating a life of meaning. African American mothers with HIV/AIDS in the rural Southeast used culturally specific self-care and mothering strategies reflective of cultural traditions. This study acknowledges strengths of African American women and generates theory that will enhance nursing care to this population.

Genetic Diversity and Population Structure of Ethiopian Sheep Populations Revealed by High-Density SNP Markers

PubMed Central

Edea, Zewdu; Dessie, Tadelle; Dadi, Hailu; Do, Kyoung-Tag; Kim, Kwan-Suk

2017-01-01

Sheep in Ethiopia are adapted to a wide range of environments, including extreme habitats. Elucidating their genetic diversity is critical for improving breeding strategies and mapping quantitative trait loci associated with productivity. To this end, the present study investigated the genetic diversity and population structure of five Ethiopian sheep populations exhibiting distinct phenotypes and sampled from distinct production environments, including arid lowlands and highlands. To investigate the genetic relationships in greater detail and infer population structure of Ethiopian sheep breeds at the continental and global levels, we analyzed genotypic data of selected sheep breeds from the Ovine SNP50K HapMap dataset. All Ethiopian sheep samples were genotyped with Ovine Infinium HD SNP BeadChip (600K). Mean genetic diversity ranged from 0.29 in Arsi-Bale to 0.32 in Menz sheep, while estimates of genetic differentiation among populations ranged from 0.02 to 0.07, indicating low to moderate differentiation. An analysis of molecular variance revealed that 94.62 and 5.38% of the genetic variation was attributable to differences within and among populations, respectively. Our population structure analysis revealed clustering of five Ethiopian sheep populations according to tail phenotype and geographic origin—i.e., short fat-tailed (very cool high-altitude), long fat-tailed (mid to high-altitude), and fat-rumped (arid low-altitude), with clear evidence of admixture between long fat-tailed populations. North African sheep breeds showed higher levels of within-breed diversity, but were less differentiated than breeds from Eastern and Southern Africa. When African breeds were grouped according to geographic origin (North, South, and East), statistically significant differences were detected among groups (regions). A comparison of population structure between Ethiopian and global sheep breeds showed that fat-tailed breeds from Eastern and Southern Africa clustered

Population data of five genetic markers in the Turkish population: comparison with four American population groups.

PubMed

Kurtuluş-Ulküer, M; Ulküer, U; Kesici, T; Menevşe, S

2002-09-01

In this study, the phenotype and allele frequencies of five enzyme systems were determined in a total of 611 unrelated Turkish individuals and analyzed by using the exact and the chi 2 test. The following five red cell enzymes were identified by cellulose acetate electrophoresis: phosphoglucomutase (PGM), adenosine deaminase (ADA), phosphoglucose isomerase (PGI), adenylate kinase (AK), and 6-phosphogluconate dehydrogenase (6-PGD). The ADA, PGM and AK enzymes were found to be polymorphic in the Turkish population. The results of the statistical analysis showed, that the phenotype frequencies of the five enzyme under study are in Hardy-Weinberg equilibrium. Statistical analysis was performed in order to examine whether there are significant differences in the phenotype frequencies between the Turkish population and four American population groups. This analysis showed, that there are some statistically significant differences between the Turkish and the other groups. Moreover, the observed phenotype and allele frequencies were compared with those obtained in other population groups of Turkey.

Central African Republic.

PubMed

1989-11-01

The Central African Republic contains 242,000 square miles, which rolling terrain almost 2000 feet above sea level. The climate is tropical, and it has a population of 2.8 million people with a 2.5% growth rate. There are more than 80 ethnic groups including Baya 34%, Banda 28%, Sara 10%, Mandja 9%, Mboum 9%, and M'Baka 7%. The religions are traditional African 35%, protestant 25%, Roman Catholic 25%, and Muslim 15%, and the languages are French and Sangho. The infant mortality rate is 143/1000, with expectancy at 49 years and a 40% literacy rate. The work force of 1 million is 70% agricultural, industry 6% and commerce and service 6% and government 3%. The government consists of a president assisted by cabinet ministers and a single party. Natural resources include diamonds, uranium, timber, gold, and oil, and major industries are beverages, textiles, and soap. Agricultural products feature coffee, cotton, peanuts, tobacco, food crops and livestock. Most of the population live in rural areas and most of the 80 ethnic groups have their own language. This is one of the world's least developed countries, with a per capita income of $375/year. The main problems with development are the poor transportation infrastructure, and the weak internal and international marketing systems. The US and various international organizations have aided in agriculture development, health programs, and family planning. US investment is mainly in diamond and gold mining, and although oil drilling has been successful it is not economically feasible at current prices.

CT Examination of Nose and Paranasal Sinuses of Egyptian Mummies and Three Distinct Human Population Groups: Anthropological and Clinical Implications.

PubMed

Márquez, Samuel; Lawson, William; Mowbray, Kenneth; Delman, Bradley N; Laitman, Jeffrey T

2015-06-01

The interaction of nasal morphology and climatic conditions has resulted in diverse hard- and soft-tissue configurations across human population groups. While the processes of skull pneumatization are not fully understood, the invasions of the paranasal sinuses [PNS] into the cranium have contributed to assorted morphologies. Human migratory patterns and the strong association with climatic variables through time and space may explain this diversity. This study examined four multiregional populations of which two are from Egypt but of widely divergent eras. Three Egyptian mummies [EG-M] from the middle kingdom were CT scanned providing a unique opportunity to investigate the status of PNS anatomy within a time frame from 1567 BCE to 600 CE and compare it to a contemporary Egyptian [EG] (n = 12) population. Dry skulls of Inuit [IT] (n = 10) and East African [EA] (n = 8) provide out-group comparisons, as one group represents an isolated geographic environment far different from that of Egypt and the other group inhabiting distinct environmental conditions albeit located within the same continent. Results showed EG-M and EG frontal sinus volumes were diminutive in size with no statistically significant difference between them. Maxillary sinus size values of EG-M and EG clustered together while IT and EA significantly differed from each other (P = 0.002). The multiregional groups exhibited population specific morphologies in their PNS anatomy. Ecogeographic localities revealed anatomical differences among IT and EA, while the potential time span of about 3,500 years produced only a negligible difference between the Egyptian groups. The small sample sizes incorporated into this research requires confirmation of the results by analyses of larger samples from each geographic region and with the integration of a larger group of Egyptian mummified remains. © 2015 Wiley Periodicals, Inc.

Legal ivory trade in a corrupt world and its impact on African elephant populations.

PubMed

Bennett, Elizabeth L

2015-02-01

Illegal hunting of African elephants (Loxodonta africana) for ivory is causing rapid declines in their populations. Since 2007, illegal ivory trade has more than doubled. African elephants are facing the most serious conservation crisis since 1989, when international trade was banned. One solution proposed is establishment of a controlled legal trade in ivory. High prices for ivory mean that the incentives to obtain large quantities are high, but the quantity of tusks available for trade are biologically constrained. Within that context, effective management of a legal ivory trade would require robust systems to be in place to ensure that ivory from illegally killed elephants cannot be laundered into a legal market. At present, that is not feasible due to corruption among government officials charged with implementing wildlife-related legislation. With organized criminal enterprises involved along the whole commodity chain, corruption enables the laundering of illegal ivory into legal or potentially legal markets. Poachers and traffickers can rapidly pay their way out of trouble, so the financial incentives to break the law heavily outweigh those of abiding by it. Maintaining reliable permitting systems and leak-proof chains of custody in this context is challenging, and effective management breaks down. Once illegal ivory has entered the legal trade, it is difficult or impossible for enforcement officers to know what is legal and illegal. Addressing corruption throughout a trade network that permeates countries across the globe will take decades, if it can ever be achieved. That will be too late for wild African elephants at current rates of loss. If we are to conserve remaining wild populations, we must close all markets because, under current levels of corruption, they cannot be controlled in a way that does not provide opportunities for illegal ivory being laundered into legal markets. © 2014 Society for Conservation Biology.

Altitudinal gradients, biogeographic history and microhabitat adaptation affect fine-scale spatial genetic structure in African and Neotropical populations of an ancient tropical tree species.

PubMed

Torroba-Balmori, Paloma; Budde, Katharina B; Heer, Katrin; González-Martínez, Santiago C; Olsson, Sanna; Scotti-Saintagne, Caroline; Casalis, Maxime; Sonké, Bonaventure; Dick, Christopher W; Heuertz, Myriam

2017-01-01

The analysis of fine-scale spatial genetic structure (FSGS) within populations can provide insights into eco-evolutionary processes. Restricted dispersal and locally occurring genetic drift are the primary causes for FSGS at equilibrium, as described in the isolation by distance (IBD) model. Beyond IBD expectations, spatial, environmental or historical factors can affect FSGS. We examined FSGS in seven African and Neotropical populations of the late-successional rain forest tree Symphonia globulifera L. f. (Clusiaceae) to discriminate the influence of drift-dispersal vs. landscape/ecological features and historical processes on FSGS. We used spatial principal component analysis and Bayesian clustering to assess spatial genetic heterogeneity at SSRs and examined its association with plastid DNA and habitat features. African populations (from Cameroon and São Tomé) displayed a stronger FSGS than Neotropical populations at both marker types (mean Sp = 0.025 vs. Sp = 0.008 at SSRs) and had a stronger spatial genetic heterogeneity. All three African populations occurred in pronounced altitudinal gradients, possibly restricting animal-mediated seed dispersal. Cyto-nuclear disequilibria in Cameroonian populations also suggested a legacy of biogeographic history to explain these genetic patterns. Conversely, Neotropical populations exhibited a weaker FSGS, which may reflect more efficient wide-ranging seed dispersal by Neotropical bats and other dispersers. The population from French Guiana displayed an association of plastid haplotypes with two morphotypes characterized by differential habitat preferences. Our results highlight the importance of the microenvironment for eco-evolutionary processes within persistent tropical tree populations.

Altitudinal gradients, biogeographic history and microhabitat adaptation affect fine-scale spatial genetic structure in African and Neotropical populations of an ancient tropical tree species

PubMed Central

Torroba-Balmori, Paloma; Budde, Katharina B.; Heer, Katrin; González-Martínez, Santiago C.; Olsson, Sanna; Scotti-Saintagne, Caroline; Sonké, Bonaventure; Dick, Christopher W.

2017-01-01

The analysis of fine-scale spatial genetic structure (FSGS) within populations can provide insights into eco-evolutionary processes. Restricted dispersal and locally occurring genetic drift are the primary causes for FSGS at equilibrium, as described in the isolation by distance (IBD) model. Beyond IBD expectations, spatial, environmental or historical factors can affect FSGS. We examined FSGS in seven African and Neotropical populations of the late-successional rain forest tree Symphonia globulifera L. f. (Clusiaceae) to discriminate the influence of drift-dispersal vs. landscape/ecological features and historical processes on FSGS. We used spatial principal component analysis and Bayesian clustering to assess spatial genetic heterogeneity at SSRs and examined its association with plastid DNA and habitat features. African populations (from Cameroon and São Tomé) displayed a stronger FSGS than Neotropical populations at both marker types (mean Sp = 0.025 vs. Sp = 0.008 at SSRs) and had a stronger spatial genetic heterogeneity. All three African populations occurred in pronounced altitudinal gradients, possibly restricting animal-mediated seed dispersal. Cyto-nuclear disequilibria in Cameroonian populations also suggested a legacy of biogeographic history to explain these genetic patterns. Conversely, Neotropical populations exhibited a weaker FSGS, which may reflect more efficient wide-ranging seed dispersal by Neotropical bats and other dispersers. The population from French Guiana displayed an association of plastid haplotypes with two morphotypes characterized by differential habitat preferences. Our results highlight the importance of the microenvironment for eco-evolutionary processes within persistent tropical tree populations. PMID:28771629

Eating Disorders in African American Girls: Implications for Counselors

ERIC Educational Resources Information Center

Talleyrand, Regine M.

2010-01-01

Given the recent focus on eating disorders in children, it is imperative that counselors consider eating concerns that affect children of all racial and ethnic groups and hence are effective in working with this population. The author discusses risk factors that potentially contribute to eating disorders in African American girls given their…

A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groups.

PubMed

Salas, Antonio; Amigo, Jorge

2010-05-03

The high levels of variation characterising the mitochondrial DNA (mtDNA) molecule are due ultimately to its high average mutation rate; moreover, mtDNA variation is deeply structured in different populations and ethnic groups. There is growing interest in selecting a reduced number of mtDNA single nucleotide polymorphisms (mtSNPs) that account for the maximum level of discrimination power in a given population. Applications of the selected mtSNP panel range from anthropologic and medical studies to forensic genetic casework. This study proposes a new simulation-based method that explores the ability of different mtSNP panels to yield the maximum levels of discrimination power. The method explores subsets of mtSNPs of different sizes randomly chosen from a preselected panel of mtSNPs based on frequency. More than 2,000 complete genomes representing three main continental human population groups (Africa, Europe, and Asia) and two admixed populations ("African-Americans" and "Hispanics") were collected from GenBank and the literature, and were used as training sets. Haplotype diversity was measured for each combination of mtSNP and compared with existing mtSNP panels available in the literature. The data indicates that only a reduced number of mtSNPs ranging from six to 22 are needed to account for 95% of the maximum haplotype diversity of a given population sample. However, only a small proportion of the best mtSNPs are shared between populations, indicating that there is not a perfect set of "universal" mtSNPs suitable for all population contexts. The discrimination power provided by these mtSNPs is much higher than the power of the mtSNP panels proposed in the literature to date. Some mtSNP combinations also yield high diversity values in admixed populations. The proposed computational approach for exploring combinations of mtSNPs that optimise the discrimination power of a given set of mtSNPs is more efficient than previous empirical approaches. In contrast to

A Reduced Number of mtSNPs Saturates Mitochondrial DNA Haplotype Diversity of Worldwide Population Groups

PubMed Central

Salas, Antonio; Amigo, Jorge

2010-01-01

Background The high levels of variation characterising the mitochondrial DNA (mtDNA) molecule are due ultimately to its high average mutation rate; moreover, mtDNA variation is deeply structured in different populations and ethnic groups. There is growing interest in selecting a reduced number of mtDNA single nucleotide polymorphisms (mtSNPs) that account for the maximum level of discrimination power in a given population. Applications of the selected mtSNP panel range from anthropologic and medical studies to forensic genetic casework. Methodology/Principal Findings This study proposes a new simulation-based method that explores the ability of different mtSNP panels to yield the maximum levels of discrimination power. The method explores subsets of mtSNPs of different sizes randomly chosen from a preselected panel of mtSNPs based on frequency. More than 2,000 complete genomes representing three main continental human population groups (Africa, Europe, and Asia) and two admixed populations (“African-Americans” and “Hispanics”) were collected from GenBank and the literature, and were used as training sets. Haplotype diversity was measured for each combination of mtSNP and compared with existing mtSNP panels available in the literature. The data indicates that only a reduced number of mtSNPs ranging from six to 22 are needed to account for 95% of the maximum haplotype diversity of a given population sample. However, only a small proportion of the best mtSNPs are shared between populations, indicating that there is not a perfect set of “universal” mtSNPs suitable for all population contexts. The discrimination power provided by these mtSNPs is much higher than the power of the mtSNP panels proposed in the literature to date. Some mtSNP combinations also yield high diversity values in admixed populations. Conclusions/Significance The proposed computational approach for exploring combinations of mtSNPs that optimise the discrimination power of a given set of

Do hernia operations in african international cooperation programmes provide good quality?

PubMed

Gil, J; Rodríguez, J M; Hernández, Q; Gil, E; Balsalobre, M D; González, M; Torregrosa, N; Verdú, T; Alcaráz, M; Parrilla, P

2012-12-01

Hernia is especially prevalent in developing countries where the population is obliged to undertake strenuous work in order to survive, and International Cooperation Programmes are helping to solve this problem. However, the quality of surgical interventions is unknown. The objective of the present study was to evaluate the quality of hernia repair processes carried out by the Surgical Solidarity Charity in Central African States. A total of 524 cases of inguinal hernia repair carried out in Cameroon and Mali during 2005 to 2009 were compared with 386 cases treated in a Multicentre Spanish Study (2003). General data (clinical, demographic, etc.), type of surgery, complications, and effectiveness and efficiency indicators were collected. Preoperative studies in the Spanish group were greater in number than in the African group. The use of local anesthesia was similar. Antibiotic prophylaxis was higher in the African group (100% to 75.4%). The use of mesh was similar. The incidence of hematomas was higher in the Spanish group (11.61% to 4.61%), but the incidence of infection of the wound and of hernia recurrence was similar, although follow-up was only carried out in 20.97% in the African group (70% in the Spanish group). Hospital stay of more than 24 h was higher in the Spanish group. The standard quality of surgery for the treatment of hernia in developing countries with few instrumental means, and in sub-optimal surgical conditions is similar to that provided in Spain.

The Uncertain Significance of Low Vitamin D levels in African Descent Populations: A Review of the Bone and Cardiometabolic Literature

PubMed Central

O'Connor, Michelle Y; Thoreson, Caroline K; Ramsey, Natalie L M; Ricks, Madia; Sumner, Anne E

2014-01-01

Vitamin D levels in people of African descent are often described as inadequate or deficient. Whether low vitamin D levels in people of African descent lead to compromised bone or cardiometabolic health is unknown. Clarity on this issue is essential because if clinically significant vitamin D deficiency is present, vitamin D supplementation is necessary. However, if vitamin D is metabolically sufficient, vitamin D supplementation could be wasteful of scarce resources and even harmful. In this review vitamin D physiology is described with a focus on issues specific to populations of African descent such as the influence of melanin on endogenous vitamin D production and lactose intolerance on the willingness of people to ingest vitamin D fortified foods. Then data on the relationship of vitamin D to bone and cardiometabolic health in people of African descent are evaluated. PMID:24267433

High genetic connectivity among estuarine populations of the riverbream Acanthopagrus vagus along the southern African coast

NASA Astrophysics Data System (ADS)

Oosthuizen, Carel J.; Cowley, Paul D.; Kyle, Scotty R.; Bloomer, Paulette

2016-12-01

Physical and/or physiological constraints are assumed to isolate fish populations confined to or dependent on estuarine habitats. Strong isolation by distance is thus expected to affect connectivity. Such structuring has important implications for sustainable utilisation and replenishment of estuarine stocks that are heavily exploited. Here we present a preliminary investigation of the phylogenetic relationships of the riverbream (Acanthopagrus species) along the southern African coast and the geographic genetic structure of what appears to be a locally endemic species or lineage. Mitochondrial DNA (mtDNA) cytochrome b sequences support the notion that the species occurring along the southern African coast is A. vagus and not A. berda as previously thought. Yet, the taxonomy of this widespread Indo-West Pacific species or species-complex requires more in-depth investigation. No genetic differentiation was detected among estuarine populations of A. vagus based on the analyses of mtDNA ND2 gene sequences and 10 polymorphic nuclear microsatellite markers. The star-like genealogy and statistical analyses are consistent with a recent population expansion event. Spatial analyses of microsatellite genotypes fail to reject the null hypothesis of panmixia, indicative of a recent population expansion or ongoing gene flow between different estuaries. The northern localities were identified as containing most of the observed variation. This study not only provides insight into the phylogenetic relationship of A. vagus relative to other Acanthopagrus species but also sheds light on the demographic history and contemporary gene flow of the species.

Population genetics of Glossina palpalis palpalis from central African sleeping sickness foci.

PubMed

Melachio, Trésor Tito Tanekou T T; Simo, Gustave; Ravel, Sophie; De Meeûs, Thierry; Causse, Sandrine; Solano, Philippe; Lutumba, Pascal; Asonganyi, Tazoacha; Njiokou, Flobert

2011-07-18

Glossina palpalis palpalis (Diptera: Glossinidae) is widespread in west Africa, and is the main vector of sleeping sickness in Cameroon as well as in the Bas Congo Province of the Democratic Republic of Congo. However, little is known on the structure of its populations. We investigated G. p. palpalis population genetic structure in five sleeping sickness foci (four in Cameroon, one in Democratic Republic of Congo) using eight microsatellite DNA markers. A strong isolation by distance explains most of the population structure observed in our sampling sites of Cameroon and DRC. The populations here are composed of panmictic subpopulations occupying fairly wide zones with a very strong isolation by distance. Effective population sizes are probably between 20 and 300 individuals and if we assume densities between 120 and 2000 individuals per km2, dispersal distance between reproducing adults and their parents extends between 60 and 300 meters. This first investigation of population genetic structure of G. p. palpalis in Central Africa has evidenced random mating subpopulations over fairly large areas and is thus at variance with that found in West African populations of G. p. palpalis. This study brings new information on the isolation by distance at a macrogeographic scale which in turn brings useful information on how to organise regional tsetse control. Future investigations should be directed at temporal sampling to have more accurate measures of demographic parameters in order to help vector control decision.

Population genetic structure of peninsular Malaysia Malay sub-ethnic groups.

PubMed

Hatin, Wan Isa; Nur-Shafawati, Ab Rajab; Zahri, Mohd-Khairi; Xu, Shuhua; Jin, Li; Tan, Soon-Guan; Rizman-Idid, Mohammed; Zilfalil, Bin Alwi

2011-04-05

Patterns of modern human population structure are helpful in understanding the history of human migration and admixture. We conducted a study on genetic structure of the Malay population in Malaysia, using 54,794 genome-wide single nucleotide polymorphism genotype data generated in four Malay sub-ethnic groups in peninsular Malaysia (Melayu Kelantan, Melayu Minang, Melayu Jawa and Melayu Bugis). To the best of our knowledge this is the first study conducted on these four Malay sub-ethnic groups and the analysis of genotype data of these four groups were compiled together with 11 other populations' genotype data from Indonesia, China, India, Africa and indigenous populations in Peninsular Malaysia obtained from the Pan-Asian SNP database. The phylogeny of populations showed that all of the four Malay sub-ethnic groups are separated into at least three different clusters. The Melayu Jawa, Melayu Bugis and Melayu Minang have a very close genetic relationship with Indonesian populations indicating a common ancestral history, while the Melayu Kelantan formed a distinct group on the tree indicating that they are genetically different from the other Malay sub-ethnic groups. We have detected genetic structuring among the Malay populations and this could possibly be accounted for by their different historical origins. Our results provide information of the genetic differentiation between these populations and a valuable insight into the origins of the Malay sub-ethnic groups in Peninsular Malaysia.

Population structure in Argentina

PubMed Central

Motti, Josefina M. B.; Paz Sepulveda, Paula B.; Yee, Muh-ching; Cooke, Thomas; Santos, María R.; Ramallo, Virginia; Alfaro, Emma L.; Dipierri, Jose E.; Bailliet, Graciela; Bravi, Claudio M.; Bustamante, Carlos D.; Kenny, Eimear E.

2018-01-01

We analyzed 391 samples from 12 Argentinian populations from the Center-West, East and North-West regions with the Illumina Human Exome Beadchip v1.0 (HumanExome-12v1-A). We did Principal Components analysis to infer patterns of populational divergence and migrations. We identified proportions and patterns of European, African and Native American ancestry and found a correlation between distance to Buenos Aires and proportion of Native American ancestry, where the highest proportion corresponds to the Northernmost populations, which is also the furthest from the Argentinian capital. Most of the European sources are from a South European origin, matching historical records, and we see two different Native American components, one that spreads all over Argentina and another specifically Andean. The highest percentages of African ancestry were in the Center West of Argentina, where the old trade routes took the slaves from Buenos Aires to Chile and Peru. Subcontinentaly, sources of this African component are represented by both West Africa and groups influenced by the Bantu expansion, the second slightly higher than the first, unlike North America and the Caribbean, where the main source is West Africa. This is reasonable, considering that a large proportion of the ships arriving at the Southern Hemisphere came from Mozambique, Loango and Angola. PMID:29715266

Population structure in Argentina.

PubMed

Muzzio, Marina; Motti, Josefina M B; Paz Sepulveda, Paula B; Yee, Muh-Ching; Cooke, Thomas; Santos, María R; Ramallo, Virginia; Alfaro, Emma L; Dipierri, Jose E; Bailliet, Graciela; Bravi, Claudio M; Bustamante, Carlos D; Kenny, Eimear E

2018-01-01

We analyzed 391 samples from 12 Argentinian populations from the Center-West, East and North-West regions with the Illumina Human Exome Beadchip v1.0 (HumanExome-12v1-A). We did Principal Components analysis to infer patterns of populational divergence and migrations. We identified proportions and patterns of European, African and Native American ancestry and found a correlation between distance to Buenos Aires and proportion of Native American ancestry, where the highest proportion corresponds to the Northernmost populations, which is also the furthest from the Argentinian capital. Most of the European sources are from a South European origin, matching historical records, and we see two different Native American components, one that spreads all over Argentina and another specifically Andean. The highest percentages of African ancestry were in the Center West of Argentina, where the old trade routes took the slaves from Buenos Aires to Chile and Peru. Subcontinentaly, sources of this African component are represented by both West Africa and groups influenced by the Bantu expansion, the second slightly higher than the first, unlike North America and the Caribbean, where the main source is West Africa. This is reasonable, considering that a large proportion of the ships arriving at the Southern Hemisphere came from Mozambique, Loango and Angola.

Relationship between Hysterectomy and Admixture in African American Women

PubMed Central

Qi, Lihong; Nassir, Rami; Kosoy, Roman; Garcia, Lorena; Waetjen, L. Elaine; Ochs-Balcom, Heather M.; Gass, Margery; Robbins, John; Seldin, Michael F

2013-01-01

Objective Most studies suggest that hysterectomies are more common in African Americans than in other ethnic groups. To assess this ethnic surgical disparity in a novel way, our main goal was to determine whether admixture (the proportion of sub-Saharan African or European origin in individuals) is associated with hysterectomy frequency in African American women in the Women’s Health Initiative (WHI). Study Design In this retrospective study, we used ancestry informative single nucleotide polymorphisms (SNPs) to estimate admixture proportions in >10,000 African American women from the WHI. Logistic regression models were used to assess the association between admixture and self-reported history of hysterectomy with and without controlling for relevant covariates. Multinomial logistic regression models were used to assess the association between admixture and self-reported age of hysterectomy. We also considered other potential risk factors (adiposity, hypertension, and education) for hysterectomy accounting for admixture. Results African admixture was a strong risk factor after adjusting for multiple covariates (OR 1.85, P<.0001). The admixture risk for hysterectomy was highest for those performed in the 35–39 age range (OR 3.08, P<.0001) and least evident in oldest ages (45 or older). Our analyses also suggest that adiposity, hypertension and education were independently associated with hysterectomy in this population group. Conclusion These results suggest that higher African admixture is associated with higher frequencies of hysterectomy and that genetic studies specifically targeting African American women and diseases associated with hysterectomy may be especially useful in understanding the pathogenesis and underlying cause of this disparity in health outcome. PMID:23333549

Landscape genomics and pathway analysis to understand genetic adaptation of South African indigenous goat populations.

PubMed

Mdladla, K; Dzomba, E F; Muchadeyi, F C

2018-04-01

In Africa, extensively raised livestock populations in most smallholder farming communities are exposed to harsh and heterogeneous climatic conditions and disease pathogens that they adapt to in order to survive. Majority of these livestock species, including goats, are of non-descript and uncharacterized breeds and their response to natural selection presented by heterogeneous environments is still unresolved. This study investigated genetic diversity and its association with environmental and geographic conditions in 194 South African indigenous goats from different geographic locations genotyped on the Illumina goat SNP50K panel. Population structure analysis revealed a homogeneous genetic cluster of the Tankwa goats, restricted to the Northern Cape province. Overall, the Boer, Kalahari Red, and Savanna showed a wide geographic spread of shared genetic components, whereas the village ecotypes revealed a longitudinal distribution. The relative importance of environmental factors on genetic variation of goat populations was assessed using redundancy analysis (RDA). Climatic and geographic variables explained 22% of the total variation while climatic variables alone accounted for 17% of the diversity. Geographic variables solitarily explained 1% of the total variation. The first axis (Model I) of the RDA analysis revealed 329 outlier SNPs. Landscape genomic approaches of spatial analysis method (SAM) identified a total of 843 (1.75%) SNPs, while latent factor mixed models (LFMM) identified 714 (1.48%) SNPs significantly associated with environmental variables. Significant markers were within genes involved in biological functions potentially important for environmental adaptation. Overall, the study suggested environmental factors to have some effect in shaping the genetic variation of South African indigenous goat populations. Loci observed to be significant and under selection may be responsible for the adaption of the goat populations to local production systems.

Genetic analysis of Saccharomyces cerevisiae strains isolated from palm wine in eastern Nigeria. Comparison with other African strains.

PubMed

Ezeronye, O U; Legras, J-L

2009-05-01

To study the yeast diversity of Nigerian palm wines by comparison with other African strains. Twenty-three Saccharomyces cerevisiae strains were obtained from palm wine samples collected at four locations in eastern Nigeria, and characterized using different molecular techniques: internal transcribed spacer restriction fragment length polymorphism and sequence analysis, pulsed field gel electrophoresis, inter delta typing and microsatellite multilocus analysis. These techniques revealed that palm wine yeasts represent a group of closely related strains that includes other West African isolates (CBS400, NCYC110, DVPG6044). Population analysis revealed an excess of homozygote strains and an allelic richness similar to wine suggestive of local domestication. Several other African yeast strains were not connected to this group. Ghana sorghum beer strains and other African strains (DBVPG1853 and MUCL28071) displayed strikingly high relatedness with European bread, beer or wine strains, and the genome of strain MUCL30909 contained African and wine-type alleles, indicating its hybrid origin. Nigerian palm wine yeast represents a local specific yeast flora, whereas a European origin or hybrid was suspected for several other Africa isolates. This study presents the first genetic characterization of an autochthonous African palm wine yeast population and confirms the idea that human intervention has favoured yeast migration.

Leukoedema: an epidemiological study in white and African Americans.

PubMed

Martin, J L

1997-01-01

Leukoedema, a benign grayish-white lesion which characteristically involves the oral mucosa of humans, was once indicated as a probable precursor to leukoplakia. The author reports an incidence of fifty-three percent in a population of 13,000 white and African Americans who reside in the Southeastern region of the United States. This longitudinal study revealed that the incidence of leukoedema per 1,000 persons increased with age in both ethnic groups up to ages 40-49 and then declined systematically. There was no sex predilection. The occurrence of leukoedema was significantly greater in African Americans.

Differences in blood pressure control in a large population-based sample of older African Americans and non-Hispanic whites.

PubMed

Delgado, Jose; Jacobs, Elizabeth A; Lackland, Daniel T; Evans, Denis A; de Leon, Carlos F Mendes

2012-11-01

Cardiovascular disease is the main cause of death in older adults. Uncontrolled blood pressure is an important risk factor for cardiovascular disease. African Americans have poorer blood pressure control than non-Hispanic whites. Little is known about whether this difference persists in older ages or the factors that contribute to this racial gap. Data were obtained from participants of the Chicago Health and Aging Program. Blood pressure control was defined according to JNC-7 criteria. Univariate chi-square analyses were used to determine racial differences in hypertension and blood pressure control, whereas sequential multivariate logistic regression models were used to determine the effect of race on blood pressure control. African Americans had a higher prevalence of hypertension (74% vs 63%; p < .001), higher awareness of hypertension (81% vs 72%; p < .001), and poorer blood pressure control (45% vs 51%, p < .001) than non-Hispanic whites. Racial differences in blood pressure control persisted after adjustment for socioeconomic status, medical conditions, obesity, and use of antihypertensive medications (odds ratio = 0.84, 95% confidence interval = 0.70-0.94). From 1993 to 2008, blood pressure control improved more among non-Hispanic whites than among African Americans. Racial differences in blood pressure control in older adults were not explained by socioeconomic status. The racial disparity in the prevalence and control of hypertension remained consistent for older hypertensive individuals eligible for Medicare. Although the rates of hypertension control improved for both racial groups, the improvement was greater among whites, thus widening the gap in this older population at high risk for cardiovascular disease.

Validity of body composition methods across ethnic population groups.

PubMed

Deurenberg, P; Deurenberg-Yap, M

2003-10-01

Most in vivo body composition methods rely on assumptions that may vary among different population groups as well as within the same population group. The assumptions are based on in vitro body composition (carcass) analyses. The majority of body composition studies were performed on Caucasians and much of the information on validity methods and assumptions were available only for this ethnic group. It is assumed that these assumptions are also valid for other ethnic groups. However, if apparent differences across ethnic groups in body composition 'constants' and body composition 'rules' are not taken into account, biased information on body composition will be the result. This in turn may lead to misclassification of obesity or underweight at an individual as well as a population level. There is a need for more cross-ethnic population studies on body composition. Those studies should be carried out carefully, with adequate methodology and standardization for the obtained information to be valuable.

Simian immunodeficiency viruses from African green monkeys display unusual genetic diversity.

PubMed Central

Johnson, P R; Fomsgaard, A; Allan, J; Gravell, M; London, W T; Olmsted, R A; Hirsch, V M

1990-01-01

African green monkeys are asymptomatic carriers of simian immunodeficiency viruses (SIV), commonly called SIVagm. As many as 50% of African green monkeys in the wild may be SIV seropositive. This high seroprevalence rate and the potential for genetic variation of lentiviruses suggested to us that African green monkeys may harbor widely differing genotypes of SIVagm. To investigate this hypothesis, we determined the entire nucleotide sequence of an infectious proviral molecular clone of SIVagm (155-4) and partial sequences (long terminal repeat and Gag) of three other distinct SIVagm isolates (90, gri-1, and ver-1). Comparisons among the SIVagm isolates revealed extreme diversity at the nucleotide and amino acid levels. Long terminal repeat nucleotide sequences varied up to 35% and Gag protein sequences varied up to 30%. The variability among SIVagm isolates exceeded the variability among any other group of primate lentiviruses. Our data suggest that SIVagm has been in the African green monkey population for a long time and may be the oldest primate lentivirus group in existence. PMID:2304139

Biomedical research, a tool to address the health issues that affect African populations

PubMed Central

2013-01-01

Traditionally, biomedical research endeavors in low to middle resources countries have focused on communicable diseases. However, data collected over the past 20 years by the World Health Organization (WHO) show a significant increase in the number of people suffering from non-communicable diseases (e.g. heart disease, diabetes, cancer and pulmonary diseases). Within the coming years, WHO predicts significant decreases in communicable diseases while non-communicable diseases are expected to double in low and middle income countries in sub-Saharan Africa. The predicted increase in the non-communicable diseases population could be economically burdensome for the basic healthcare infrastructure of countries that lack resources to address this emerging disease burden. Biomedical research could stimulate development of healthcare and biomedical infrastructure. If this development is sustainable, it provides an opportunity to alleviate the burden of both communicable and non-communicable diseases through diagnosis, prevention and treatment. In this paper, we discuss how research using biomedical technology, especially genomics, has produced data that enhances the understanding and treatment of both communicable and non-communicable diseases in sub-Saharan Africa. We further discuss how scientific development can provide opportunities to pursue research areas responsive to the African populations. We limit our discussion to biomedical research in the areas of genomics due to its substantial impact on the scientific community in recent years however, we also recognize that targeted investments in other scientific disciplines could also foster further development in African countries. PMID:24143865

Measurements of the talus in the assessment of population affinity.

PubMed

Bidmos, Mubarak A; Dayal, Manisha R; Adegboye, Oyelola A

2018-06-01

As part of their routine work, forensic anthropologists are expected to report population affinity as part of the biological profile of an individual. The skull is the most widely used bone for the estimation of population affinity but it is not always present in a forensic case. Thus, other bones that preserve well have been shown to give a good indication of either the sex or population affinity of an individual. In this study, the potential of measurements of the talus was investigated for the purpose of estimating population affinity in South Africans. Nine measurements from two hundred and twenty tali of South African Africans (SAA) and South African Whites (SAW) from the Raymond A. Dart Collection of Human Skeletons were used. Direct and step-wise discriminant function and logistic regression analyses were carried out using SPSS and SAS. Talar length was the best single variable for discriminating between these two groups for males while in females the head height was the best single predictor. Average accuracies for correct population affinity classification using logistic regression analysis were higher than those obtained from discriminant function analysis. This study was the first of its type to employ discriminant function analyses and logistic regression analyses to estimate the population affinity of an individual from the talus. Thus these equations can now be used by South African anthropologists when estimating the population affinity of dismembered or damaged or incomplete skeletal remains of SAA and SAW. Copyright © 2018 Elsevier B.V. All rights reserved.

CANCER HEALTH DISPARITIES PERSIST AMONG AFRICAN AMERICANS IN WISCONSIN

PubMed Central

Jones, Nathan R.; Williamson, Amy; Foote, Mary; Creswell, Paul; Strickland, Rick; Remington, Patrick; Cleary, James; Adams, Alexandra

2011-01-01

Background Cancer incidence and mortality rates have decreased over the last few decades, yet not all groups have benefited equally from these successes. This has resulted in increased disparities in cancer burden among various population groups. Objective This study examined trends in absolute and relative disparities in overall cancer incidence and mortality rates between African American and white residents of Wisconsin during 1995 to 2006. Methods Cancer incidence data were obtained from the Wisconsin Cancer Reporting System. Mortality data were accessed from the National Center for Health Statistics’ public use mortality file. Trends in incidence and mortality rates during 1995–2006 for African Americans and whites were calculated and changes in relative disparity were measured using rate ratios. Results With few exceptions, African American incidence and mortality rates were higher than white rates in every year of the period 1995–2006. Although cancer mortality and incidence declined for both groups over the period, relative racial disparities in rates persisted over the period and account for about a third of African American cancer deaths. Conclusions Elimination of cancer health disparities will require further research into the many contributing factors, as well as into effective interventions to address them. In Wisconsin, policy makers, health administrators, and healthcare providers need to balance resources carefully and set appropriate priorities to target racial inequities in cancer burden. PMID:21066932

SURVEILLANCE FOR VIRAL AND PARASITIC PATHOGENS IN A VULNERABLE AFRICAN LION (PANTHERA LEO) POPULATION IN THE NORTHERN TULI GAME RESERVE, BOTSWANA.

PubMed

McDermid, Kimberly R; Snyman, Andrei; Verreynne, Frederick J; Carroll, John P; Penzhorn, Banie L; Yabsley, Michael J

2017-01-01

African lion ( Panthera leo ) numbers are decreasing rapidly and populations are becoming smaller and more fragmented. Infectious diseases are one of numerous issues threatening free-ranging lion populations, and low-density populations are particularly at risk. We collected data on the prevalence and diversity of viral and parasitic pathogens in a small lion population in eastern Botswana. During 2012 and 2014, blood samples were collected from 59% (n=13) of the adult-subadult lions in the Northern Tuli Game Reserve in eastern Botswana. One lion had antibodies to feline panleukopenia virus, two had antibodies to canine distemper virus, and two had feline calicivirus antibodies. Ten of the 13 had antibodies to feline immunodeficiency virus and 11 had feline herpesvirus antibodies. All lions were negative for antibodies to feline coronavirus. Blood samples from all lions were negative for Trypanosoma, Anaplasma, Theileria, and Ehrlichia spp. by molecular testing; however, all lions were positive for Babesia spp. by reverse line blot hybridization assay. Sequencing of amplicons from four lions revealed four groups of Babesia spp. including several genetic variants of Babesia felis , Babesia lengau, and Babesia canis and a group of novel Babesia sequences which were only 96% similar to other Babesia spp. Six lions were infested with four species of ticks (Rhipicentor nuttalli, Rhipicephalus simus, Rhipicephalus sulcatus, and Rhipicephalus appendiculatus). These data provide the first health assessment of this population and can be used to identify management and conservation strategies to decrease the impact of pathogens on this population. This is particularly important as there is an initiative to incorporate this population into a larger metapopulation of lions from adjacent South Africa and Zimbabwe.

Social identity and support for counteracting tobacco company marketing that targets vulnerable populations

PubMed Central

Baig, Sabeeh A.; Pepper, Jessica K.; Morgan, Jennifer C.; Brewer, Noel T.

2017-01-01

Rationale Tobacco companies use advertising to target vulnerable populations, including youth, racial/ethnic minorities, and sexual minorities. Objective We sought to examine how personal identity affects support for population-specific anti-smoking advertisements that could serve as countermeasures to industry practices. Methods In 2014–2015, we surveyed probability phone samples of adults and adolescents (n = 6,139) and an online convenience sample of adults (n = 4,137) in the United States. We experimentally varied the description of tobacco industry marketing practices (no description, general, or specific to a target group). The four prevention target groups were teens; African Americans; Latinos; and gays, lesbians, and bisexuals (GLBs). Participants were either members or non-members of their prevention target group. Results Support was highest for anti-smoking advertisements targeting teens, moderate for Latinos and African Americans, and lowest for GLBs. In-group members expressed higher support than out-group members when anti-smoking advertisements targeted African Americans, Latinos, and GLBs (all p < .05). However, when teens were the target prevention group, in-group members expressed lower support than out-group members (p < .05). The description of industry marketing practices did not have an effect. Results were similar across the phone and online studies. Conclusions Our findings suggest that the public strongly supports advertisements to prevent smoking among teens, but support for similar efforts among other vulnerable populations is comparatively low. Anti-smoking campaigns for vulnerable populations may benefit from a greater understanding of the role of social identity in shaping public support for such campaigns. PMID:28427731

Genetic structure of South African Nguni (Zulu) sheep populations reveals admixture with exotic breeds

PubMed Central

Kunene, Nokuthula Winfred

2018-01-01

The population of Zulu sheep is reported to have declined by 7.4% between 2007 and 2011 due to crossbreeding. There is insufficient information on the genetic diversity of the Zulu sheep populations in the different area of KwaZulu Natal where they are reared. The study investigated genetic variation and genetic structure within and among eight Zulu sheep populations using 26 microsatellite markers. In addition, Damara, Dorper and South African Merino breeds were included to assess the genetic relationship between these breeds and the Zulu sheep. The results showed that there is considerable genetic diversity among the Zulu sheep populations (expected heterozygosity ranging from 0.57 to 0.69) and the level of inbreeding was not remarkable. The structure analysis results revealed that Makhathini Research Station and UNIZULU research station share common genetic structure, while three populations (Nongoma, Ulundi and Nquthu) had some admixture with the exotic Dorper breed. Thus, there is a need for sustainable breeding and conservation programmes to control the gene flow, in order to stop possible genetic dilution of the Zulu sheep. PMID:29698497

Genetic structure of South African Nguni (Zulu) sheep populations reveals admixture with exotic breeds.

PubMed

Selepe, Mokhethi Matthews; Ceccobelli, Simone; Lasagna, Emiliano; Kunene, Nokuthula Winfred

2018-01-01

The population of Zulu sheep is reported to have declined by 7.4% between 2007 and 2011 due to crossbreeding. There is insufficient information on the genetic diversity of the Zulu sheep populations in the different area of KwaZulu Natal where they are reared. The study investigated genetic variation and genetic structure within and among eight Zulu sheep populations using 26 microsatellite markers. In addition, Damara, Dorper and South African Merino breeds were included to assess the genetic relationship between these breeds and the Zulu sheep. The results showed that there is considerable genetic diversity among the Zulu sheep populations (expected heterozygosity ranging from 0.57 to 0.69) and the level of inbreeding was not remarkable. The structure analysis results revealed that Makhathini Research Station and UNIZULU research station share common genetic structure, while three populations (Nongoma, Ulundi and Nquthu) had some admixture with the exotic Dorper breed. Thus, there is a need for sustainable breeding and conservation programmes to control the gene flow, in order to stop possible genetic dilution of the Zulu sheep.

Smoking and Genetic Risk Variation across Populations of European, Asian, and African-American Ancestry - A Meta-analysis of Chromosome 15q25

PubMed Central

Chen, Li-Shiun; Saccone, Nancy L.; Culverhouse, Robert C.; Bracci, Paige M.; Chen, Chien-Hsiun; Dueker, Nicole; Han, Younghun; Huang, Hongyan; Jin, Guangfu; Kohno, Takashi; Ma, Jennie Z.; Przybeck, Thomas R.; Sanders, Alan R.; Smith, Jennifer A.; Sung, Yun Ju; Wenzlaff, Angie S.; Wu, Chen; Yoon, Dankyu; Chen, Ying-Ting; Cheng, Yu-Ching; Cho, Yoon Shin; David, Sean P.; Duan, Jubao; Eaton, Charles B.; Furberg, Helena; Goate, Alison M.; Gu, Dongfeng; Hansen, Helen M.; Hartz, Sarah; Hu, Zhibin; Kim, Young Jin; Kittner, Steven J.; Levinson, Douglas F.; Mosley, Thomas H.; Payne, Thomas J.; Rao, DC; Rice, John P.; Rice, Treva K.; Schwantes-An, Tae-Hwi; Shete, Sanjay S.; Shi, Jianxin; Spitz, Margaret R.; Sun, Yan V.; Tsai, Fuu-Jen; Wang, Jen C.; Wrensch, Margaret R.; Xian, Hong; Gejman, Pablo V.; He, Jiang; Hunt, Steven C.; Kardia, Sharon L.; Li, Ming D.; Lin, Dongxin; Mitchell, Braxton D.; Park, Taesung; Schwartz, Ann G.; Shen, Hongbing; Wiencke, John K.; Wu, Jer-Yuarn; Yokota, Jun; Amos, Christopher I.; Bierut, Laura J.

2012-01-01

Recent meta-analyses of European ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome 15q25. This meta-analysis extends the examination of association between distinct genes in the CHRNA5-CHRNA3-CHRNB4 region and smoking quantity to Asian and African American populations to confirm and refine specific reported associations. Association results for a dichotomized cigarettes smoked per day (CPD) phenotype in 27 datasets (European ancestry (N=14,786), Asian (N=6,889), and African American (N=10,912) for a total of 32,587 smokers) were meta-analyzed by population and results were compared across all three populations. We demonstrate association between smoking quantity and markers in the chromosome 15q25 region across all three populations, and narrow the region of association. Of the variants tested, only rs16969968 is associated with smoking (p < 0.01) in each of these three populations (OR=1.33, 95%C.I.=1.25–1.42, p=1.1×10−17 in meta-analysis across all population samples). Additional variants displayed a consistent signal in both European ancestry and Asian datasets, but not in African Americans. The observed consistent association of rs16969968 with heavy smoking across multiple populations, combined with its known biological significance, suggests rs16969968 is most likely a functional variant that alters risk for heavy smoking. We interpret additional association results that differ across populations as providing evidence for additional functional variants, but we are unable to further localize the source of this association. Using the cross-population study paradigm provides valuable insights to narrow regions of interest and inform future biological experiments. PMID:22539395

Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25.

PubMed

Chen, Li-Shiun; Saccone, Nancy L; Culverhouse, Robert C; Bracci, Paige M; Chen, Chien-Hsiun; Dueker, Nicole; Han, Younghun; Huang, Hongyan; Jin, Guangfu; Kohno, Takashi; Ma, Jennie Z; Przybeck, Thomas R; Sanders, Alan R; Smith, Jennifer A; Sung, Yun Ju; Wenzlaff, Angie S; Wu, Chen; Yoon, Dankyu; Chen, Ying-Ting; Cheng, Yu-Ching; Cho, Yoon Shin; David, Sean P; Duan, Jubao; Eaton, Charles B; Furberg, Helena; Goate, Alison M; Gu, Dongfeng; Hansen, Helen M; Hartz, Sarah; Hu, Zhibin; Kim, Young Jin; Kittner, Steven J; Levinson, Douglas F; Mosley, Thomas H; Payne, Thomas J; Rao, D C; Rice, John P; Rice, Treva K; Schwantes-An, Tae-Hwi; Shete, Sanjay S; Shi, Jianxin; Spitz, Margaret R; Sun, Yan V; Tsai, Fuu-Jen; Wang, Jen C; Wrensch, Margaret R; Xian, Hong; Gejman, Pablo V; He, Jiang; Hunt, Steven C; Kardia, Sharon L; Li, Ming D; Lin, Dongxin; Mitchell, Braxton D; Park, Taesung; Schwartz, Ann G; Shen, Hongbing; Wiencke, John K; Wu, Jer-Yuarn; Yokota, Jun; Amos, Christopher I; Bierut, Laura J

2012-05-01

Recent meta-analyses of European ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome 15q25. This meta-analysis extends the examination of association between distinct genes in the CHRNA5-CHRNA3-CHRNB4 region and smoking quantity to Asian and African American populations to confirm and refine specific reported associations. Association results for a dichotomized cigarettes smoked per day phenotype in 27 datasets (European ancestry (N = 14,786), Asian (N = 6,889), and African American (N = 10,912) for a total of 32,587 smokers) were meta-analyzed by population and results were compared across all three populations. We demonstrate association between smoking quantity and markers in the chromosome 15q25 region across all three populations, and narrow the region of association. Of the variants tested, only rs16969968 is associated with smoking (P < 0.01) in each of these three populations (odds ratio [OR] = 1.33, 95% CI = 1.25-1.42, P = 1.1 × 10(-17) in meta-analysis across all population samples). Additional variants displayed a consistent signal in both European ancestry and Asian datasets, but not in African Americans. The observed consistent association of rs16969968 with heavy smoking across multiple populations, combined with its known biological significance, suggests rs16969968 is most likely a functional variant that alters risk for heavy smoking. We interpret additional association results that differ across populations as providing evidence for additional functional variants, but we are unable to further localize the source of this association. Using the cross-population study paradigm provides valuable insights to narrow regions of interest and inform future biological experiments. © 2012 Wiley Periodicals, Inc.

Qualitative study of African-American job satisfaction in a scientific/technical research environment

DOE Office of Scientific and Technical Information (OSTI.GOV)

Krossa, Cheryl Delemos

1996-09-01

Many studies have been conducted in the area of job satisfaction. Its necessary attributes sor components have been studied, analyzed, validated, standardized, and normed, onpredominantly white male populations. Few of these studies have focused on people of color, specifically African-Americans, and fewer still on those African-Americans working in a high-tech, scientific and research environments. The researchers have defined what is necessary for the current dominent culture`s population, but are their findings applicable and valid for our nation`s other cultures and ethnic groups? Among the conclusions: the subjects felt that there was no real difference in job satisfiers from their whitemore » colleagues; however the subjects had the sense of community (African-American) and the need to give back to it. Frustrations included politics, funding, and lack of control.« less

Population Genetic Structure of Peninsular Malaysia Malay Sub-Ethnic Groups

PubMed Central

Hatin, Wan Isa; Nur-Shafawati, Ab Rajab; Zahri, Mohd-Khairi; Xu, Shuhua; Jin, Li; Tan, Soon-Guan; Rizman-Idid, Mohammed; Zilfalil, Bin Alwi

2011-01-01

Patterns of modern human population structure are helpful in understanding the history of human migration and admixture. We conducted a study on genetic structure of the Malay population in Malaysia, using 54,794 genome-wide single nucleotide polymorphism genotype data generated in four Malay sub-ethnic groups in peninsular Malaysia (Melayu Kelantan, Melayu Minang, Melayu Jawa and Melayu Bugis). To the best of our knowledge this is the first study conducted on these four Malay sub-ethnic groups and the analysis of genotype data of these four groups were compiled together with 11 other populations' genotype data from Indonesia, China, India, Africa and indigenous populations in Peninsular Malaysia obtained from the Pan-Asian SNP database. The phylogeny of populations showed that all of the four Malay sub-ethnic groups are separated into at least three different clusters. The Melayu Jawa, Melayu Bugis and Melayu Minang have a very close genetic relationship with Indonesian populations indicating a common ancestral history, while the Melayu Kelantan formed a distinct group on the tree indicating that they are genetically different from the other Malay sub-ethnic groups. We have detected genetic structuring among the Malay populations and this could possibly be accounted for by their different historical origins. Our results provide information of the genetic differentiation between these populations and a valuable insight into the origins of the Malay sub-ethnic groups in Peninsular Malaysia. PMID:21483678

22q11.2 deletion syndrome in diverse populations.

PubMed

Kruszka, Paul; Addissie, Yonit A; McGinn, Daniel E; Porras, Antonio R; Biggs, Elijah; Share, Matthew; Crowley, T Blaine; Chung, Brian H Y; Mok, Gary T K; Mak, Christopher C Y; Muthukumarasamy, Premala; Thong, Meow-Keong; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Prabodha, L B Lahiru; Mishra, Rupesh; Shotelersuk, Vorasuk; Ekure, Ekanem Nsikak; Sokunbi, Ogochukwu Jidechukwu; Kalu, Nnenna; Ferreira, Carlos R; Duncan, Jordann-Mishael; Patil, Siddaramappa Jagdish; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Uwineza, Annette; Mutesa, Leon; Moresco, Angélica; Obregon, María Gabriela; Richieri-Costa, Antonio; Gil-da-Silva-Lopes, Vera L; Adeyemo, Adebowale A; Summar, Marshall; Zackai, Elaine H; McDonald-McGinn, Donna M; Linguraru, Marius George; Muenke, Maximilian

2017-04-01

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P < 0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P ≥ 0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world. © 2017 Wiley Periodicals, Inc.

Conspiracy Beliefs about the Origin of HIV/AIDS in Four Racial/Ethnic Groups

PubMed Central

Ross, Michael W.; Essien, E. James; Torres, Isabel

2006-01-01

We examined beliefs about the origin of HIV as a genocidal conspiracy in men and women of four racial/ethnic groups in a street intercept sample in Houston, Texas. Groups sampled were African American, Latino, non-Hispanic white, and Asian. Highest levels of conspiracy theories were found in women, and in African American and Latino populations (over a quarter of African Americans and over a fifth of Latinos) with slightly lower rates in whites (a fifth) and Asians less than one in ten). Reductions in condom use associated with such beliefs were however only apparent in African American men. Conspiracy beliefs were an independent predictor of reported condom use along with race/ethnicity, gender, education, and age group. Data suggest that genocidal conspiracy beliefs are relatively widespread in several racial/ethnic groups and that an understanding of the sources of these beliefs is important to determine their possible impact on HIV prevention and treatment behaviors. PMID:16540935

The African, Caribbean and European (ACE) Pathways to Care study: a qualitative exploration of similarities and differences between African-origin, Caribbean-origin and European-origin groups in pathways to care for psychosis.

PubMed

Ferrari, Manuela; Flora, Nina; Anderson, Kelly K; Tuck, Andrew; Archie, Suzanne; Kidd, Sean; McKenzie, Kwame

2015-01-14

This paper reports on a qualitative exploration of the reasons for differences in pathways to care and duration of untreated psychosis (DUP) in the African, Caribbean and European (ACE) Pathways to Care study from the perspective of respondents to the study and their families. Ontario, Canada. Thirty-four participants in total. Twenty-five young people who had experienced a first episode of psychosis and nine family members. Participants were part of the ACE Pathways to Care study. We implemented six focus groups. Furthermore, we implemented four in-depth interviews with two African-origin young women, one Caribbean-origin woman, and one European-origin woman with lived experience of psychosis. Factors that influenced help-seeking delays across the three groups were: personal awareness of symptoms, family members' knowledge of psychotic symptoms and knowledge of mental health services. Youth and their family members described how stigma played a key role in pathways to care by stopping them from asking for help. The way in which stigma operated on the three groups' members, from feeling ashamed to feeling guilty for their mental illnesses, helped to explain differences in DUP between the groups. Guilt feelings emerged as a prominent theme among members from the African and Caribbean groups and it was not discussed in the European focus group. Delay in entering into first-episode psychosis programmes was also influenced by the stigma perceived by young people in healthcare settings. This had an impact on the therapeutic relationships, disclosure of symptoms and overall trust in the healthcare system. The findings of this paper suggest that stigma, especially internalised stigma, may operate in different ways in European-origin, African-origin and Caribbean-origin groups. These findings could inform the development of more equitable services for people in early stages of psychosis. Published by the BMJ Publishing Group Limited. For permission to use (where not

The PhD Conundrum in South African Academia

ERIC Educational Resources Information Center

Breier, Mignonne; Herman, Chaya

2017-01-01

South African universities need more academics with PhDs, from historically disadvantaged population groups in particular, but they face a conundrum. In order to have more staff with PhDs, they need to produce more PhD graduates. But in order to produce more PhD graduates, they need more staff with PhDs to supervise. This article explores this…

[Food groups consumption and sociodemographic characteristics in Mexican population].

PubMed

Gaona-Pineda, Elsa B; Martínez-Tapia, Brenda; Arango-Angarita, Andrea; Valenzuela-Bravo, Danae; Gómez-Acosta, Luz M; Shamah-Levy, Teresa; Rodríguez-Ramírez, Sonia

2018-01-01

To estimate the recommendable and non-recommendable food groups for usual consumption by sociodemographic characteristics in Mexican population. Through a 7-day, semi-quan¬titative food frequency questionnaire used in 2016 National Health and Nutrition Survey, we estimated the proportions of population (preschool and school children, adolescents and adults) who consumed food groups that are relevant for public health by area, region and socioeconomic status (SES). Less than 50% of population consumed vegetables daily; almost 80% of the population consumed plain water daily and sweetened beverages (3 d/week). Center and Mexico City regions had the highest percentage of fruits and vegetables consumers (p<0.012). High SES had the highest consumer´s percentage of recommendable and non-recommendable food groups. A high percentage of the population do not consume fruits, vegetables and plain water daily.

Overrepresented Minorities in Special Education in the United States and Romania: Comparison between African-American and Roma Populations in Disability Studies

ERIC Educational Resources Information Center

Walker, Gabriela

2008-01-01

This manuscript briefly examines minority participation within the school population that is eligible for special education services--namely, African Americans in the United States and the Roma population in Romania. A large percentage of students from both minorities come to school unprepared to learn and they remain behind because of the…

Disease, risk, and contagion: French colonial and postcolonial constructions of "African" bodies.

PubMed

Sargent, Carolyn; Larchanché, Stéphanie

2014-12-01

In this article, we explore how sub-Saharan African immigrant populations in France have been constructed as risk groups by media sources, in political rhetoric, and among medical professionals, drawing on constructs dating to the colonial period. We also examine how political and economic issues have been mirrored and advanced in media visibility and ask why particular populations and the diseases associated with them in the popular imagination have received more attention at certain historical moments. In the contemporary period we analyze how the bodies of West African women and men have become powerful metaphors in the politics of discrimination prevalent in France, in spite of Republican precepts that theoretically disavow cultural and social difference.

A Decade of Experience With Renal Transplantation in African-Americans

PubMed Central

Foster, Clarence E.; Philosophe, Benjamin; Schweitzer, Eugene J.; Colonna, John O.; Farney, Alan C.; Jarrell, Bruce; Anderson, Leslie; Bartlett, Stephen T.