Maqola

Genetic diversity in black South Africans from Soweto

Andrew K. MayDivision of Human Genetics, School of Pathology, University of the Witwatersrand, Faculty of Health Sciences, Johannesburg, South Africa. [email protected]Scott HazelhurstWits Bioinformatics, University of the Witwatersrand, Johannesburg, South AfricaYali LiNovartis Institutes for Biomedical Research (NIBR), Human Genetics and Genomics, Cambridge, MA, USAShane A. NorrisMRC/Wits Developmental Pathways for Health Research Unit, Department of Paediatrics, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South AfricaNimmisha GovindDivision of Human Genetics, School of Pathology, University of the Witwatersrand, Faculty of Health Sciences, Johannesburg, South AfricaMohammed TiklyChris Hani Baragwanath HospitalClaudia HonNovartis Institutes for Biomedical Research (NIBR), Human Genetics and Genomics, Cambridge, MA, USAKeith JohnsonNovartis Institutes for Biomedical Research (NIBR), Human Genetics and Genomics, Cambridge, MA, USANicole HartmannNovartis Institutes for Biomedical Research (NIBR), Human Genetics and Genomics, Basel, SwitzerlandFrank StaedtlerNovartis Institutes for Biomedical Research (NIBR), Human Genetics and Genomics, Basel, SwitzerlandMichèle RamsayDivision of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa

2013en

ABI

Annotatsiya

BACKGROUND: Due to the unparalleled genetic diversity of its peoples, Africa is attracting growing research attention. Several African populations have been assessed in global initiatives such as the International HapMap and 1000 Genomes Projects. Notably excluded, however, is the southern Africa region, which is inhabited predominantly by southeastern Bantu-speakers, currently suffering under the dual burden of infectious and non-communicable diseases. Limited reference data for these individuals hampers medical research and prevents thorough understanding of the underlying population substructure. Here, we present the most detailed exploration, to date, of genetic diversity in 94 unrelated southeastern Bantu-speaking South Africans, resident in urban Soweto (Johannesburg). RESULTS: Participants were typed for ~4.3 million SNPs using the Illumina Omni5 beadchip. PCA and ADMIXTURE plots were used to compare the observed variation with that seen in selected populations worldwide. Results indicated that Sowetans, and other southeastern Bantu-speakers, are a clearly distinct group from other African populations previously investigated, reflecting a unique genetic history with small, but significant contributions from diverse sources. To assess the suitability of our sample as representative of Sowetans, we compared our results to participants in a larger rheumatoid arthritis case-control study. The control group showed good clustering with our sample, but among the cases were individuals who demonstrated notable admixture. CONCLUSIONS: Sowetan population structure appears unique compared to other black Africans, and may have clinical implications. Our data represent a suitable reference set for southeastern Bantu-speakers, on par with a HapMap type reference population, and constitute a prelude to the Southern African Human Genome Programme.

Hali tarjima qilinmagan

Identifikatorlar

DOI: 10.1186/1471-2164-14-644

Iqtiboslar va manbalar

2 ta iqtibos0 ta foydalanilgan manba

Koʻrsatkichlar — AkademScholar