{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Atkinson EG"],"funding":["NICHD NIH HHS","FIC NIH HHS","NIMH NIH HHS"],"pagination":["1667-1679"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9502052"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["109(9)"],"pubmed_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."],"journal":["American journal of human genetics"],"pubmed_title":["Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa."],"pmcid":["PMC9502052"],"funding_grant_id":["K01 MH121659","D43 TW011541","T32 MH017119","R01 HD102974","R01 MH120642","U01 MH125045","R00 MH117229"],"pubmed_authors":["Gelaye B","Kigen G","Daly MJ","Pichkar Y","Atkinson EG","Atwoli L","Mwema RM","Newman CP","Martin AR","Zingela Z","Kwobah E","James R","Chibnik LB","Kariuki SM","Yohannes MT","Abebe T","Gichuru S","Koenen KC","Musinguzi H","Koen N","NeuroGAP-Psychosis Study Team","Teferra S","Koenig Z","Stroud RE","Majara L","Fekadu A","Ramachandran S","Kyebuzibwa J","Creanza N","Shiferaw W","Ramesar R","Alemayehu M","Dalvie S","Stevenson A","Baker M","Ongeri L","Stein DJ","Kalungi A","Injera WE","Akena D","Ashaba FK","Newton CRJC","Neale BM"],"additional_accession":[]},"is_claimable":false,"name":"Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.","description":"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.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2026-05-28T03:30:28.386Z","creation":"2025-02-19T00:43:53.55Z"},"accession":"S-EPMC9502052","cross_references":{"pubmed":["36055213"],"doi":["10.1016/j.ajhg.2022.07.013"]}}