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学科主题: 精神卫生
题名:
Association analysis of a functional variant in ATXN2 with schizophrenia
作者: Zhang, Fuquan1,2,3; Wang, Guoqiang1; Shugart, Yin Yao4; Xu, Yong5; Liu, Chenxing2,3; Wang, Lifang2,3; Lu, Tianlan2,3; Yan, Hao2,3; Ruan, Yanyan2,3; Chang, Zaohuo1; Tian, Lin1; Jin, Chunhui1; Yuan, Janmin1; Wang, Zhiqiang1; Zhu, Wei1; Cao, Leiming1; Liu, Yansong1; Yue, Weihua2,3; Zhang, Dai2,3
关键词: Schizophrenia ; ATXN2 ; rs7969300
刊名: NEUROSCIENCE LETTERS
发表日期: 2014-03-06
DOI: 10.1016/j.neulet.2013.12.001
卷: 562, 页:24-27
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Neurosciences
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: POLYGLUTAMINE EXPANSIONS ; ATAXIN-2 ; PROTEIN ; REPEAT ; RISK ; MICE
英文摘要:

Schizophrenia (SZ) is a severe mental disorder characterized by multiple neurodevelopmental dysfunctions including a breakdown of thinking process and a deficit of typical emotional responses. Ataxin-2 (ATXN2) plays vital roles in cell proliferation and growth, and functional mutations of ATXN2 cause neurodegenerative phenotypes, including spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS). To explore the possible role of ATXN2 in SZ, we conducted a two-stage study to examine the association of ATXN2 polymorphisms with SZ in the Han Chinese population. Association analysis of seven SNPs in 768 patients and 1348 controls revealed two associated SNPs, including rs630511 (P= 1.76E-4) and rs7969300 (P= 5.08E-4). We examined these two SNPs in a validation sample of 1957 patients and 1509 controls, and observed an association of rs7969300 with SZ (P=5.03E-3). The SNP rs7969300 is a non-synonymous SNP causing a Ser to Asn substitution, which is predicted to increase the protein stability of ATXN2. Our data suggest that the ATXN2 gene may confer vulnerability for SZ, adding further evidence for the genetic variants within the developmental pathway in the illness. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

语种: 英语
所属项目编号: 2009AA022702 ; 81000578 ; 81071087 ; 81071088 ; 2011CB707805 ; 2010DFB30820
项目资助者: National High-Tech Research and Development Program of China ; National Natural Science Foundation of China ; National Basic Research Program of China ; International Science &amp ; Technology Cooperation Program of China ; Intramural Research Program of NIMH, NIH, USA
WOS记录号: WOS:000332909900005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52270
Appears in Collections:北京大学精神卫生研究所_期刊论文

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作者单位: 1.Wuxi Mental Hlth Ctr, Wuxi, Jiangsu, Peoples R China
2.Peking Univ, Inst Mental Hlth, Beijing 100191, Peoples R China
3.Minist Hlth, Key Lab Mental Hlth, Beijing, Peoples R China
4.NIMH, Unit Stat Genom, Intramural Res Program, NIH, Bethesda, MD 20892 USA
5.Shanxi Med Univ, Hosp 1, Dept Psychiat, Taiyuan, Peoples R China

Recommended Citation:
Zhang, Fuquan,Wang, Guoqiang,Shugart, Yin Yao,et al. Association analysis of a functional variant in ATXN2 with schizophrenia[J]. NEUROSCIENCE LETTERS,2014,562:24-27.
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