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author Atkinson, Elizabeth G.
Dalvie, Shareefa
Pichkar, Yakov
Kalungi, Allan
Majara, Lerato
Stevenson, Anne
Abebe, Tamrat
Akena, Dickens
Alemayehu, Melkam
Ashaba, Fred K.
Atwoli, Lukoye
Baker, Mark
Chibnik, Lori B.
Creanza, Nicole
Daly, Mark J.
Fekadu, Abebaw
Gelaye, Bizu
Gichuru, Stella
Injera, Wilfred E.
James, Roxanne
Kariuki, Symon M.
Kigen, Gabriel
Koen, Nastassja
Koenen, Karestan C.
Koenig, Zan
Kwobah, Edith
Kyebuzibwa, Joseph
Musinguzi, Henry
Mwema, Rehema M.
Neale, Benjamin M.
Newman, Carter P.
Newton, Charles R.J.C.
Ongeri, Linnet
Ramachandran, Sohini
Ramesar, Raj
Shiferaw, Welelta
Stein, Dan J.
Stroud, Rocky E.
Teferra, Solomon
Yohannes, Mary T.
Zingela, Zukiswa
Martin, Alicia R.
author_facet Atkinson, Elizabeth G.
Dalvie, Shareefa
Pichkar, Yakov
Kalungi, Allan
Majara, Lerato
Stevenson, Anne
Abebe, Tamrat
Akena, Dickens
Alemayehu, Melkam
Ashaba, Fred K.
Atwoli, Lukoye
Baker, Mark
Chibnik, Lori B.
Creanza, Nicole
Daly, Mark J.
Fekadu, Abebaw
Gelaye, Bizu
Gichuru, Stella
Injera, Wilfred E.
James, Roxanne
Kariuki, Symon M.
Kigen, Gabriel
Koen, Nastassja
Koenen, Karestan C.
Koenig, Zan
Kwobah, Edith
Kyebuzibwa, Joseph
Musinguzi, Henry
Mwema, Rehema M.
Neale, Benjamin M.
Newman, Carter P.
Newton, Charles R.J.C.
Ongeri, Linnet
Ramachandran, Sohini
Ramesar, Raj
Shiferaw, Welelta
Stein, Dan J.
Stroud, Rocky E.
Teferra, Solomon
Yohannes, Mary T.
Zingela, Zukiswa
Martin, Alicia R.
author_sort Atkinson, Elizabeth G.
collection PubMed
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.
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spelling pubmed-95020522022-09-24 Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa Atkinson, Elizabeth G. Dalvie, Shareefa Pichkar, Yakov Kalungi, Allan Majara, Lerato Stevenson, Anne Abebe, Tamrat Akena, Dickens Alemayehu, Melkam Ashaba, Fred K. Atwoli, Lukoye Baker, Mark Chibnik, Lori B. Creanza, Nicole Daly, Mark J. Fekadu, Abebaw Gelaye, Bizu Gichuru, Stella Injera, Wilfred E. James, Roxanne Kariuki, Symon M. Kigen, Gabriel Koen, Nastassja Koenen, Karestan C. Koenig, Zan Kwobah, Edith Kyebuzibwa, Joseph Musinguzi, Henry Mwema, Rehema M. Neale, Benjamin M. Newman, Carter P. Newton, Charles R.J.C. Ongeri, Linnet Ramachandran, Sohini Ramesar, Raj Shiferaw, Welelta Stein, Dan J. Stroud, Rocky E. Teferra, Solomon Yohannes, Mary T. Zingela, Zukiswa Martin, Alicia R. Am J Hum Genet Article 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. Elsevier 2022-09-01 2022-09-01 /pmc/articles/PMC9502052/ /pubmed/36055213 http://dx.doi.org/10.1016/j.ajhg.2022.07.013 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Atkinson, Elizabeth G.
Dalvie, Shareefa
Pichkar, Yakov
Kalungi, Allan
Majara, Lerato
Stevenson, Anne
Abebe, Tamrat
Akena, Dickens
Alemayehu, Melkam
Ashaba, Fred K.
Atwoli, Lukoye
Baker, Mark
Chibnik, Lori B.
Creanza, Nicole
Daly, Mark J.
Fekadu, Abebaw
Gelaye, Bizu
Gichuru, Stella
Injera, Wilfred E.
James, Roxanne
Kariuki, Symon M.
Kigen, Gabriel
Koen, Nastassja
Koenen, Karestan C.
Koenig, Zan
Kwobah, Edith
Kyebuzibwa, Joseph
Musinguzi, Henry
Mwema, Rehema M.
Neale, Benjamin M.
Newman, Carter P.
Newton, Charles R.J.C.
Ongeri, Linnet
Ramachandran, Sohini
Ramesar, Raj
Shiferaw, Welelta
Stein, Dan J.
Stroud, Rocky E.
Teferra, Solomon
Yohannes, Mary T.
Zingela, Zukiswa
Martin, Alicia R.
Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
title Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
title_full Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
title_fullStr Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
title_full_unstemmed Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
title_short Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
title_sort genetic structure correlates with ethnolinguistic diversity in eastern and southern africa
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9502052/
https://www.ncbi.nlm.nih.gov/pubmed/36055213
http://dx.doi.org/10.1016/j.ajhg.2022.07.013
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