Genetics of schizophrenia in the South African Xhosa
Open accessAbstract
African schizophrenia genetic variants: The genetics of schizophrenia have predominately been studied in populations of European and Asian descent. However, studies in Africans, who host the greatest degree of human genetic diversity, have lagged. Examining the exomes of more than 1800 Xhosa individuals from South Africa, about half of which have been diagnosed with schizophrenia, Gulsuner et al. identified both rare and common genetic variants associated with the disease. They found that the genetic architecture of schizophrenia in Africans generally reflects that of Europeans but that the greater genetic variation in Africa provides more power to detect relationships of genes to phenotypes. Science , this issue p. 569
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Earlier sequencing studies established that ultra-rare and de novo mutations contribute to schizophrenia risk and found enrichment in neuronal genes and synaptic processes.
“Earlier schizophrenia sequencing studies have established that ultra-rare and de novo mutations contribute to risk as a category, and have prioritized disease-relevant tissues and processes, specifically observing an enrichment in neuronal genes and synaptic processes9,11,19–23.”
From Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) · cites this paper as [22]
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References 46 · Cited by 118
Research works printed but not linked: 5
- [10]Peires JB, The House of Phalo: A History of the Xhosa People in the Days of Their Independence (Univ. of California Press, 1982).
- [11]Newman JL, The Peopling of Africa: A Geographic Interpretation (Yale Univ. Press, 1995).
- [17]Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X, Am. J. Hum. Genet. 92, 841– 853 (2013). 23684009 PMC3675243
- [22]Singh T, Nat. Neurosci. 19, 571– 577 (2016). 26974950 PMC6689268
- [25]Rotimi C, Science 344, 1346– 1348 (2014). 24948725 PMC4138491
- Authors
- Gulsuner, S., Stein, D. J., Susser, E. S., Sibeko, G., Pretorius, A., Walsh, T., Majara, L., Mndini, M. M., Mqulwana, S. G., Ntola, O. A., Casadei, S., Ngqengelele, L. L., Korchina, V., van der Merwe, C., Malan, M., Fader, K. M., Feng, M., Willoughby, E., Muzny, D., Baldinger, A., Andrews, H. F., Gur, R. C., Gibbs, R. A., Zingela, Z., Nagdee, M., Ramesar, R. S., King, M.-C., & McClellan, J. M.
- Affiliations
- Department of Medicine, Department of Genome Sciences, and Department of Psychiatry, University of Washington, Seattle, WA, USA.
- University of Cape Town (ZA)
- New York State Psychiatric Institute (US)
- University of Washington (US)
- Baylor College of Medicine (US)
- Division of Human Genetics, University of Cape Town, Cape Town, South Africa.
- Columbia University (US)
- University of Minnesota (US)
- University of Pennsylvania (US)
- Rhodes University (ZA)
- Corresponding author
- King, M.-C.
- ORCID
- Gulsuner, S.
- Stein, D. J.
- Susser, E. S.
- Sibeko, G.
- Pretorius, A.
- Walsh, T.
- Majara, L.
- Casadei, S.
- Ngqengelele, L. L.
- Korchina, V.
- van der Merwe, C.
- Malan, M.
- Fader, K. M.
- Feng, M.
- Willoughby, E.
- Muzny, D.
- Baldinger, A.
- Andrews, H. F.
- Gur, R. C.
- Gibbs, R. A.
- Zingela, Z.
- Nagdee, M.
- Ramesar, R. S.
- King, M.-C.
- McClellan, J. M.
- Venue
- Science
- Published
- 2020-01-31
- Volume
- 367
- Issue
- 6477
- Pages
- 569-573
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC9558321
- OpenAlex
- W3004013987
- Cited by
- 118
- References
- 46
- Citations by year
- 2026: 10 · 2025: 7 · 2024: 8 · 2023: 23 · 2022: 26 · 2021: 31 · 2020: 13
- FWCI
- 16.96
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Nelson Mandela University Research Repository (submittedVersion)
- Funders
- National Institutes of Health (U01 MH096754, U01 MH096756, U01 MH096844, UM1 HG008898)
- Brain and Behavior Research Foundation
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- schizophrenia genetics, private mutations, synaptic function, glutamate, GABA, dopamine, genetic heterogeneity, synaptic plasticity
- MeSH terms
- Age Factors, Autistic Disorder, Bipolar Disorder, Dopamine, Female, gamma-Aminobutyric Acid, Glutamine, Humans, Male, Mutation, Neural Pathways, Synaptic Transmission, Schizophrenia, Sex Factors, South Africa, Synapses, Genetic Variation
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