Identification of a functional 339 bp Alu insertion polymorphism in the schizophrenia-associated locus at 10q24.32

作     者：hi-Hui Yang Xin Cai Na Qu Li-Juan Zhao Bao-Liang Zhong Shu-Fang Zhang Jing Chen Bin Xia Hong-Yan Jiang Dan-Yang Zhou Wei-Peng Liu Hong Chang Xiao Xiao Yi Li Ming Li Zhi-Hui Yang;Xin Cai;Na Qu;Li-Juan Zhao;Bao-Liang Zhong;Shu-Fang Zhang;Jing Chen;Bin Xia;Hong-Yan Jiang;Dan-Yang Zhou;Wei-Peng Liu;Hong Chang;Xiao Xiao;Yi Li;Ming Li

作者机构：Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan ProvinceKunming Institute of ZoologyChinese Academy of SciencesKunmingYunnan 650223China Kunming College of Life ScienceUniversity of Chinese Academy of SciencesKunmingYunnan 650223China Affiliated Wuhan Mental Health CenterTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei 430012China Research Center for Psychological and Health SciencesChina University of GeosciencesWuhanHubei 430012China Department of PsychiatryFirst Affiliated Hospital of Kunming Medical UniversityKunmingYunnan 650032China Center for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai 200031China 

出 版 物：《Zoological Research》 (动物学研究（英文）)

年 卷 期：2020年第41卷第1期

页      面：84-89页

核心收录：

学科分类：1002[医学-临床医学] 100205[医学-精神病与精神卫生学] 10[医学] 

基　　金：supported by grants from Yunnan Applied Basic Research Projects(2018FB051 to X.X.and 2018FB136to H.C.) Hubei Province Health and Family Planning Scientific Research Project(WJ2015Q033 to N.Q.) Population and Family Planning Commission of Wuhan(WX14B34 to N.Q.) Open Program of Henan Key Laboratory of Biological Psychiatry(ZDSYS2018001 to H.C.) Program for Scientific Research of Yunnan Health and Family Planning Commission(2016NS025 to H.Y.J.) 

主　　题：schizophrenia insertion functional 

摘      要：Genome-wide association studies(GWAS)have identified multiple single nucleotide polymorphisms(SNPs)or small indels robustly associated with schizophrenia;however,the functional risk variations remain largely *** investigated the 10q24.32 locus and discovered a 339 bp Alu insertion polymorphism(rs71389983)in complete linkage disequilibrium(LD)with the schizophrenia GWAS risk variant *** presence of the Alu insertion at rs71389983 strongly repressed transcriptional activities in in vitro luciferase *** polymorphism may be a target for future mechanistic *** study also underlines the importance and necessity of considering previously underestimated Alu polymorphisms in future genetic studies of schizophrenia.