Genetics of schizophrenia in the South African Xhosa

S. Gulsuner; D. J. Stein; E. S. Susser; G. Sibeko; A. Pretorius; T. Walsh; L. Majara; M. M. Mndini; S. G. Mqulwana; O. A. Ntola; S. Casadei; L. L. Ngqengelele; V. Korchina; C. Van Der Merwe; M. Malan; K. M. Fader; M. Feng; E. Willoughby; D. Muzny; A. Baldinger; H. F. Andrews; R. C. Gur; R. A. Gibbs; Z. Zingela; M. Nagdee; R. S. Ramesar; M. C. King; J. M. McClellan

doi:10.1126/science.aay8833

Genetics of schizophrenia in the South African Xhosa

S. Gulsuner, D. J. Stein, E. S. Susser, G. Sibeko, A. Pretorius, T. Walsh, L. Majara, M. M. Mndini, S. G. Mqulwana, O. A. Ntola, S. Casadei, L. L. Ngqengelele, V. Korchina, C. Van Der Merwe, M. Malan, K. M. Fader, M. Feng, E. Willoughby, D. Muzny, A. BaldingerH. F. Andrews, R. C. Gur, R. A. Gibbs, Z. Zingela, M. Nagdee, R. S. Ramesar, M. C. King, J. M. McClellan

Psychology (Twin Cities)

Research output: Contribution to journal › Article › peer-review

80 Scopus citations

Abstract

Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, g-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.

Original language	English (US)
Pages (from-to)	569-573
Number of pages	5
Journal	Science
Volume	367
Issue number	6477
DOIs	https://doi.org/10.1126/science.aay8833
State	Published - Jan 31 2020

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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., ... McClellan, J. M. (2020). Genetics of schizophrenia in the South African Xhosa. Science, 367(6477), 569-573. https://doi.org/10.1126/science.aay8833

Gulsuner, S, Stein, DJ, Susser, ES, Sibeko, G, Pretorius, A, Walsh, T, Majara, L, Mndini, MM, Mqulwana, SG, Ntola, OA, Casadei, S, Ngqengelele, LL, Korchina, V, Van Der Merwe, C, Malan, M, Fader, KM, Feng, M, Willoughby, E, Muzny, D, Baldinger, A, Andrews, HF, Gur, RC, Gibbs, RA, Zingela, Z, Nagdee, M, Ramesar, RS, King, MC & McClellan, JM 2020, 'Genetics of schizophrenia in the South African Xhosa', Science, vol. 367, no. 6477, pp. 569-573. https://doi.org/10.1126/science.aay8833

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AU - Pretorius, A.

AU - Walsh, T.

AU - Majara, L.

AU - Mndini, M. M.

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AU - Casadei, S.

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AU - Malan, M.

AU - Fader, K. M.

AU - Feng, M.

AU - Willoughby, E.

AU - Muzny, D.

AU - Baldinger, A.

AU - Andrews, H. F.

AU - Gur, R. C.

AU - Gibbs, R. A.

AU - Zingela, Z.

AU - Nagdee, M.

AU - Ramesar, R. S.

AU - King, M. C.

AU - McClellan, J. M.

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Genetics of schizophrenia in the South African Xhosa

Abstract

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