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

Africa, Southern Black People / genetics Genetic Structures Genetic Variation / genetics Genetics, Population Humans
Africa diverse populations genotypes linguistics population genetics population structure

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
01 09 2022
Historique:
received: 27 06 2022
accepted: 28 07 2022
entrez: 2 9 2022
pubmed: 3 9 2022
medline: 9 9 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.ajhg.2022.07.013 PMID: 36055213 PMC: PMC9502052
pubmed: 36055213
pii: S0002-9297(22)00317-2
doi: 10.1016/j.ajhg.2022.07.013
pmc: PMC9502052
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

1667-1679

Subventions

Organisme : NICHD NIH HHS
ID : R01 HD102974
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH120642
Pays : United States
Organisme : FIC NIH HHS
ID : D43 TW011541
Pays : United States
Organisme : NIMH NIH HHS
ID : K01 MH121659
Pays : United States
Organisme : NIMH NIH HHS
ID : T32 MH017119
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH125045
Pays : United States
Organisme : NIMH NIH HHS
ID : R00 MH117229
Pays : United States

Informations de copyright

Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests A.R.M. has consulted for 23andMe and Illumina and received speaker fees from Genentech, Pfizer, and Illumina. B.M.N. is a member of the Deep Genomics Scientific Advisory Board. He also serves as a consultant for the Camp4 Therapeutics Corporation, Takeda Pharmaceutical, and Biogen. M.J.D. is a founder of Maze Therapeutics. The remaining authors declare no competing interests.

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Auteurs

Elizabeth G Atkinson (EG)

Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: elizabeth.atkinson@bcm.edu.

Shareefa Dalvie (S)

Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa; South African Medical Research Council (SAMRC) Unit on Risk and Resilience in Mental Disorders, Neuroscience Institute, University of Cape Town, Cape Town, South Africa.

Yakov Pichkar (Y)

Department of Biological Sciences and Evolutionary Studies Initiative, Vanderbilt University, Nashville, TN, USA.

Allan Kalungi (A)

Department of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda; Mental Health Section of MRC/UVRI & LSHTM Uganda Research Unit, Entebbe, Uganda.

Lerato Majara (L)

Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa; South African Medical Research Council (SAMRC) Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa.

Anne Stevenson (A)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA; Department of Psychiatry, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.

Tamrat Abebe (T)

Department of Microbiology, Immunology, and Parasitology, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

Dickens Akena (D)

Department of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.

Melkam Alemayehu (M)

Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

Fred K Ashaba (FK)

Department of Immunology & Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.

Lukoye Atwoli (L)

Department of Mental Health, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya; Brain and Mind Institute and Department of Internal Medicine, Medical College East Africa, the Aga Khan University, Nairobi, Kenya.

Mark Baker (M)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Lori B Chibnik (LB)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.

Nicole Creanza (N)

Department of Biological Sciences and Evolutionary Studies Initiative, Vanderbilt University, Nashville, TN, USA.

Mark J Daly (MJ)

Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Abebaw Fekadu (A)

Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia; Centre for Innovative Drug Development & Therapeutic Trials for Africa, Addis Ababa University, Addis Ababa, Ethiopia.

Bizu Gelaye (B)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA.

Stella Gichuru (S)

Department of Mental Health, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.

Wilfred E Injera (WE)

Department of Immunology, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.

Roxanne James (R)

Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.

Symon M Kariuki (SM)

Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya; Department of Psychiatry, University of Oxford, Oxford, UK.

Gabriel Kigen (G)

Department of Pharmacology and Toxicology, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.

Nastassja Koen (N)

Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa; South African Medical Research Council (SAMRC) Unit on Risk and Resilience in Mental Disorders, Neuroscience Institute, University of Cape Town, Cape Town, South Africa.

Karestan C Koenen (KC)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA.

Zan Koenig (Z)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Edith Kwobah (E)

Department of Mental Health, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.

Joseph Kyebuzibwa (J)

Department of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.

Henry Musinguzi (H)

Department of Immunology & Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.

Rehema M Mwema (RM)

Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.

Benjamin M Neale (BM)

Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Carter P Newman (CP)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA.

Charles R J C Newton (CRJC)

Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya; Department of Psychiatry, University of Oxford, Oxford, UK.

Linnet Ongeri (L)

Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.

Sohini Ramachandran (S)

Department of Ecology and Evolutionary Biology and Center for Computational Molecular Biology, Brown University, Providence, RI, USA.

Raj Ramesar (R)

South African Medical Research Council (SAMRC) Unit on Risk and Resilience in Mental Disorders, Neuroscience Institute, University of Cape Town, Cape Town, South Africa.

Welelta Shiferaw (W)

Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

Dan J Stein (DJ)

Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa; South African Medical Research Council (SAMRC) Unit on Risk and Resilience in Mental Disorders, Neuroscience Institute, University of Cape Town, Cape Town, South Africa.

Rocky E Stroud (RE)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA.

Solomon Teferra (S)

Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

Mary T Yohannes (MT)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Zukiswa Zingela (Z)

Executive Dean's Office, Faculty of Health Sciences, Nelson Mandela University, Port Elizabeth, South Africa.

Alicia R Martin (AR)

Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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Classifications MeSH

questionsmedicales.fr › Régions géographiques › Afrique › Afrique subsaharienne › Afrique australe › Genetic structure correlates with...
questionsmedicales.fr › Personnes › Noirs › Genetic structure correlates with...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Genetic structure correlates with...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Genetic structure correlates with...
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génétique des populations › Genetic structure correlates with...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic structure correlates with...