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Association analysis of a functional variant in ATXN2 with schizophrenia
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
2014-03-06
DOI10.1016/j.neulet.2013.12.001
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
WOS记录号WOS:000332909900005
项目编号2009AA022702 ; 81000578 ; 81071087 ; 81071088 ; 2011CB707805 ; 2010DFB30820
资助机构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
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52270
专题北京大学精神卫生研究所
北京大学第一临床医学院_妇产科
北京大学精神卫生研究所_精神科
北京大学精神卫生研究所_生化室
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
推荐引用方式
GB/T 7714
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.
APA Zhang, Fuquan.,Wang, Guoqiang.,Shugart, Yin Yao.,Xu, Yong.,Liu, Chenxing.,...&Zhang, Dai.(2014).Association analysis of a functional variant in ATXN2 with schizophrenia.NEUROSCIENCE LETTERS,562,24-27.
MLA Zhang, Fuquan,et al."Association analysis of a functional variant in ATXN2 with schizophrenia".NEUROSCIENCE LETTERS 562(2014):24-27.
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