Author: Pu, Weilin; Wu, Wenyu; Liu, Qingmei; Ma, Yanyun; Tu, Wenzhen; Zuo, Xianbo; Guo, Gang; Jiang, Shuai; Zhao, Yinhuan; Zuo, Xiaoxia; Wang, Qingwen; Yang, Li; Xiao, Rong; Chu, Haiyan; Wang, Lei; Sun, Liangdan; Cui, Jimin; Yu, Ling; Li, Huiyun; Li, Yisha; Shi, Yaqian; Zhang, Jiaqian; Zhang, Haishun; Liang, Minrui; Chen, Dongdong; Ding, Yue; Chen, Xiangxiang; Chen, Yuanyuan; Zhang, Rui; Zhao, Han; Li, Yuan; Qi, Qing; Bai, Peng; Zhao, Liang; Reveille, John D; Mayes, Maureen D; Jin, Li; Lee, Eun Bong; Zhang, Xuejun; Xu, Jinhua; Zhang, Zheng; Zhou, Xiaodong; Zou, Hejian; Wang, Jiucun
Title: Exome-wide association analysis suggests LRP2BP as a susceptibility gene for endothelial injury in systemic sclerosis in Han Chinese population. Cord-id: mtvc215y Document date: 2020_10_15
ID: mtvc215y
Snippet: Genetic factors play a key role in the pathogenesis of autoimmune diseases while remains largely unknown. Herein, we performed an exome-wide association study of systemic sclerosis (SSc) in Han Chinese population. In the discovery stage, 527 SSc patients and 5024 controls were recruited and genotyped. In validation study, an independent sample set of 479 patients and 1096 controls were examined. In total, we found four independent signals reached genome-wide significances. Among them, rs7574865
Document: Genetic factors play a key role in the pathogenesis of autoimmune diseases while remains largely unknown. Herein, we performed an exome-wide association study of systemic sclerosis (SSc) in Han Chinese population. In the discovery stage, 527 SSc patients and 5024 controls were recruited and genotyped. In validation study, an independent sample set of 479 patients and 1096 controls were examined. In total, we found four independent signals reached genome-wide significances. Among them, rs7574865 (Pcombined = 3.87 ×10-12) located within STAT4 was identified previously using samples of European-ancestry. Additionally, another signal including three SNPs in linkage-disequilibrium (LD) might be unreported susceptibility loci located in the epidermis differentiation complex (EDC) region. Furthermore, two SNPs located within the exon 3 of IGHM (rs45471499, Pcombined = 1.15×10-9) and upstream of LRP2BP (rs4317244, Pcombined = 4.17×10-8) were found. Moreover, rs4317244 was identified as an eQTL for LRP2BP that regulates the tight junction, cell cycle, and apoptosis in endothelial cell lines. Collectively, our results found three previously unreported signals associated with SSc in Han Chinese, and suggested the importance of LRP2BP in SSc pathogenesis. Given the limited sample size and discrepancies between previous results and our study, further studies in multi-ethnic populations are required for verification.
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