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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.
Affiliation
  • 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.
  • 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.
  • Pichkar Y; Department of Biological Sciences and Evolutionary Studies Initiative, Vanderbilt University, Nashville, TN, USA.
  • 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.
  • 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 Afr
  • 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 Afric
  • Abebe T; Department of Microbiology, Immunology, and Parasitology, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
  • Akena D; Department of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
  • Alemayehu M; Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
  • Ashaba FK; Department of Immunology & Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
  • 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.
  • Baker M; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • 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.
  • Creanza N; Department of Biological Sciences and Evolutionary Studies Initiative, Vanderbilt University, Nashville, TN, USA.
  • 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.
  • 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.
  • 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.
  • Gichuru S; Department of Mental Health, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.
  • Injera WE; Department of Immunology, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.
  • James R; Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
  • Kariuki SM; Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya; Department of Psychiatry, University of Oxford, Oxford, UK.
  • Kigen G; Department of Pharmacology and Toxicology, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.
  • 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.
  • 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.
  • Koenig Z; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Kwobah E; Department of Mental Health, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.
  • Kyebuzibwa J; Department of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
  • Musinguzi H; Department of Immunology & Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
  • Mwema RM; Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.
  • 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.
  • 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.
  • Newton CRJC; Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya; Department of Psychiatry, University of Oxford, Oxford, UK.
  • Ongeri L; Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.
  • Ramachandran S; Department of Ecology and Evolutionary Biology and Center for Computational Molecular Biology, Brown University, Providence, RI, USA.
  • 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.
  • Shiferaw W; Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
  • 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.
  • 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.
  • Teferra S; Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
  • Yohannes MT; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Zingela Z; Executive Dean's Office, Faculty of Health Sciences, Nelson Mandela University, Port Elizabeth, South Africa.
  • 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.
Am J Hum Genet ; 109(9): 1667-1679, 2022 09 01.
Article in En | MEDLINE | ID: mdl-36055213
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genetics, Population Limits: Humans Country/Region as subject: Africa Language: En Journal: Am J Hum Genet Year: 2022 Document type: Article Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genetics, Population Limits: Humans Country/Region as subject: Africa Language: En Journal: Am J Hum Genet Year: 2022 Document type: Article Country of publication: Estados Unidos