1. Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
- Author
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Nastassja Koen, Wilfred E. Injera, Roxanne James, Edith Kwobah, Dan J. Stein, Sohini Ramachandran, Abebaw Fekadu, Anne Stevenson, Alicia R. Martin, Karestan C. Koenen, Rocky E. Stroud, Solomon Teferra, Gabriel Kigen, Zukiswa Zingela, Elizabeth G. Atkinson, Henry Musinguzi, Linnet Ongeri, Allan Kalungi, Charles R. Newton, Fred K. Ashaba, Yakov Pichkar, NeuroGAP-Psychosis Study Team, Welelta Shiferaw, Bizu Gelaye, Melkam Alemayehu, Rehema M. Mwema, Benjamin M. Neale, Mark Baker, Carter P. Newman, Nicole Creanza, Tamrat Abebe, Joseph Kyebuzibwa, Zan Koenig, Shareefa Dalvie, Lori B. Chibnik, Mark J. Daly, Raj Ramesar, Lerato Majara, Lukoye Atwoli, Dickens Akena, Symon M. Kariuki, Stella Gichuru, and Team, NeuroGAP-Psychosis Study
- Subjects
Genetic diversity ,medicine.medical_specialty ,Genetic Structures ,media_common.quotation_subject ,Black People ,Genetic Variation ,Genealogy ,Africa, Southern ,Geography ,Variation (linguistics) ,Genetics, Population ,Genetic variation ,Genetic structure ,medicine ,Genetics ,Medical genetics ,Humans ,Three generations ,Genetics (clinical) ,Diversity (politics) ,media_common - Abstract
SummaryAfrican populations are the most diverse in the world yet are sorely underrepresented in medical genetics research. Here, we examine the structure of African populations using genetic and comprehensive multigenerational ethnolinguistic data from the Neuropsychiatric Genetics of African Populations-Psychosis study (NeuroGAP-Psychosis) consisting of 900 individuals from Ethiopia, Kenya, South Africa, and Uganda. We find that self-reported language classifications meaningfully tag underlying genetic variation that would be missed with consideration of geography alone, highlighting the importance of culture in shaping genetic diversity. Leveraging our uniquely rich multi-generational ethnolinguistic metadata, we track language transmission through the pedigree, observing the disappearance of several languages in our cohort as well as notable shifts in frequency over three generations. We find suggestive evidence for the rate of language transmission in matrilineal groups having been higher than that for patrilineal ones. We highlight both the diversity of variation within the African continent, as well as how within-Africa variation can be informative for broader variant interpretation; many variants appearing rare elsewhere are common in parts of Africa. The work presented here improves the understanding of the spectrum of genetic variation in African populations and highlights the enormous and complex genetic and ethnolinguistic diversity within Africa.
- Published
- 2022