- Title
- Genetics of schizophrenia in the South African Xhosa
- Creator
- Gulsuner, S
- Creator
- Stein, D J
- Creator
- Susser, E S
- Creator
- Sibeko, G
- Creator
- Pretorius, A
- Creator
- Walsh, T
- Creator
- Majara, L
- Creator
- Mndini, M M
- Creator
- Mqulwana, S G
- Creator
- Ntola, O A
- Creator
- Casadei, S
- Creator
- Zingela, Zukiswa
- Creator
- Nagdee, M
- Creator
- Ramesar, R S
- Creator
- King, M-C
- Creator
- McClellan, J M
- Creator
- Ngqengelele, L L
- Creator
- Korchina, V
- Creator
- van der Merwe, C
- Creator
- Malan, M
- Creator
- Fader, K M
- Creator
- Feng, M
- Creator
- Willoughby, E
- Creator
- Munzi, D
- Creator
- Andrews, H F
- Creator
- Gur, R C
- Creator
- Gibbs, R A
- Description
- 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, γ-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.
- Date
- 2020
- Subject
- Schizophrenia -- Diagnosis -- Cross-cultural studies
- Subject
- Medical genetics
- Subject
- Xhosa (African people)
- Type
- text, article
- Identifier
- http://hdl.handle.net/11260/4217
- Identifier
- vital:44044
- Identifier
- https://doi.org/10.1126/science.aay8833
- Format
- computer, online resource, application/pdf, 1 online resource (5 pages), pdf
- Language
- English
- Relation
- Science, 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. Genetics of schizophrenia in the South African Xhosa. Science. 2020 Jan 31;367(6477):569-573. doi: 10.1126/science.aay8833. PMID: 32001654; PMCID: PMC9558321., Science volume 367 number 6477 2020
- Rights
- Publisher, Access Policies for Science, Science Immunology, Science Robotics, Science Signaling, and Science Translational Medicine can be found at https://www.science.org/content/page/science-journals-editorial-policies#access-policies, Open Access
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| Thumbnail | File | Description | Size | Format | |||
|---|---|---|---|---|---|---|---|
| View Details | SOURCE1 | 569.full.pdf | 868 KB | Adobe Acrobat PDF | View Details |