作者
Ming Li, Andrew E Jaffe, Richard E Straub, Ran Tao, Joo Heon Shin, Yanhong Wang, Qiang Chen, Chao Li, Yankai Jia, Kazutaka Ohi, Brady J Maher, Nicholas J Brandon, Alan Cross, Joshua G Chenoweth, Daniel J Hoeppner, Huijun Wei, Thomas M Hyde, Ronald McKay, Joel E Kleinman, Daniel R Weinberger
发表日期
2016/6
期刊
Nature medicine
卷号
22
期号
6
页码范围
649-656
出版商
Nature Publishing Group
简介
Genome-wide association studies (GWASs) have reported many single nucleotide polymorphisms (SNPs) associated with psychiatric disorders, but knowledge is lacking regarding molecular mechanisms. Here we show that risk alleles spanning multiple genes across the 10q24.32 schizophrenia-related locus are associated in the human brain selectively with an increase in the expression of both BLOC-1 related complex subunit 7 (BORCS7) and a previously uncharacterized, human-specific arsenite methyltransferase (AS3MT) isoform (AS3MTd2d3), which lacks arsenite methyltransferase activity and is more abundant in individuals with schizophrenia than in controls. Conditional-expression analysis suggests that BORCS7 and AS3MTd2d3 signals are largely independent. GWAS risk SNPs across this region are linked with a variable number tandem repeat (VNTR) polymorphism in the first exon of AS3MT that is …
引用总数
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