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Am J Hum Genet DOI:10.1016/j.ajhg.2022.07.013

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.

Publication TypeJournal Article
Year of Publication2022
AuthorsAtkinson, EG, Dalvie, S, Pichkar, Y, Kalungi, A, Majara, L, Stevenson, A, Abebe, T, Akena, D, Alemayehu, M, Ashaba, FK, Atwoli, L, Baker, M, Chibnik, LB, Creanza, N, Daly, MJ, Fekadu, A, Gelaye, B, Gichuru, S, Injera, WE, James, R, Kariuki, SM, Kigen, G, Koen, N, Koenen, KC, Koenig, Z, Kwobah, E, Kyebuzibwa, J, Musinguzi, H, Mwema, RM, Neale, BM, Newman, CP, Newton, CRJC, Ongeri, L, Ramachandran, S, Ramesar, R, Shiferaw, W, Stein, DJ, Stroud, RE, Teferra, S, Yohannes, MT, Zingela, Z, Martin, AR
Corporate AuthorsNeuroGAP-Psychosis Study Team
JournalAm J Hum Genet
Volume109
Issue9
Pages1667-1679
Date Published2022 Sep 01
ISSN1537-6605
KeywordsAfrica, Southern, Blacks, Genetic Structures, Genetic Variation, Genetics, Population, Humans
Abstract

African 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 multi-generational 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 Africa as well as how within-Africa variation can be informative for broader variant interpretation; many variants that are 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 across Africa.

DOI10.1016/j.ajhg.2022.07.013
Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/36055213?dopt=Abstract

Alternate JournalAm J Hum Genet
PubMed ID36055213