Publications

BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3

Abstract

A single nucleotide polymorphism (SNP) rs1122608 on chromosome 19p13.2 and in the BRG1/SMARCA4 gene was previously associated with coronary artery disease (CAD). CAD and ischemic stroke are both associated with atherosclerosis. Thus, we tested the hypothesis that rs1122608 is associated with ischemic stroke. Further studies were used to identify the most likely mechanism by which rs1122608 regulates atherosclerosis. For case–control association studies, two independent Chinese Han GeneID cohorts were used, including a Central cohort with 1,075 cases and 2,685 controls and the Northern cohort with 1,208 cases and 824 controls. eQTL and real-time RT-PCR analyses were used to identify the potential candidate gene(s) affected by rs1122608. The minor allele T of SNP rs1122608 showed significant association with a decreased risk of ischemic stroke in the Central GeneID cohort …

Date
2014
Authors
Xin Xiong, Chengqi Xu, Yuting Zhang, Xiuchun Li, Binbin Wang, Fan Wang, Qin Yang, Dan Wang, Xiaojing Wang, Sisi Li, Shanshan Chen, Yuanyuan Zhao, Dan Yin, Yufeng Huang, Xuan Zhu, Li Wang, Longfei Wang, Le Chang, Chaoping Xu, Hui Li, Tie Ke, Xiang Ren, Yanxia Wu, Rongfeng Zhang, Tangchun Wu, Yunlong Xia, Yanzong Yang, Xu Ma, Xin Tu, Qing K Wang
Journal
Human genetics
Volume
133
Pages
499-508
Publisher
Springer Berlin Heidelberg