气候变化领域集成服务门户(CCPortal): Genetics of schizophrenia in the South African Xhosa

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DOI	10.1126/science.aay8833
	Genetics of schizophrenia in the South African Xhosa
	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.
发表日期	2020
ISSN	0036-8075
起始页码	569
结束页码	573
卷号	367 期号:6477
英文摘要	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. © 2020 American Association for the Advancement of Science. All rights reserved.
关键词	4 aminobutyric acid dopamine glutamine genetic analysis genetic variation genome genomics mutagenicity mutation Article connectome controlled study gene mutation genetic variability genetics human major clinical study nerve cell plasticity priority journal schizophrenia South African Xhosa (people)South Africa
语种	英语
来源机构	Science
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/133754
推荐引用方式 GB/T 7714	Gulsuner S.,Stein D.J.,Susser E.S.,et al. Genetics of schizophrenia in the South African Xhosa[J]. Science,2020,367(6477).
APA	Gulsuner S..,Stein D.J..,Susser E.S..,Sibeko G..,Pretorius A..,...&McClellan J.M..(2020).Genetics of schizophrenia in the South African Xhosa.,367(6477).
MLA	Gulsuner S.,et al."Genetics of schizophrenia in the South African Xhosa".367.6477(2020).