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Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
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-...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | 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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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. |
format | Online Article Text |
id | pubmed-9502052 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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