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ORAI1基因rs7135617位点的多态性与类风湿关节炎易感性相关。

A polymorphism of ORAI1 rs7135617, is associated with susceptibility to rheumatoid arthritis.

作者信息

Yen Jeng-Hsien, Chang Che-Mai, Hsu Yu-Wen, Lee Chih-Hung, Wu Mei-Shin, Hwang Daw-Yang, Chen Ben-Kuen, Liao Hsien-Tzung, Wu Man-Tzu Marcie, Chang Wei-Chiao

机构信息

College of Medicine, Kaohsiung Medical University, and Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung 83301, Taiwan.

Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan.

出版信息

Mediators Inflamm. 2014;2014:834831. doi: 10.1155/2014/834831. Epub 2014 Apr 8.

Abstract

Rheumatoid arthritis (RA), a chronic inflammatory disease usually occurring in synovial tissues and joints, is highly associated with genetic and environmental factors. ORAI1, a gene related to cellular immune system, has been shown to be involved in the pathogenesis of chronic inflammatory diseases and immune diseases. To identify whether ORAI1 gene contributes to RA susceptibility, we enrolled 400 patients with RA and 621 healthy individuals for a case-control genetic association study. Five tagging single nucleotides polymorphisms (tSPNs) within ORAI1 gene were selected for genotyping. An SNP, rs7135617, showed a significant correlation with the risk of RA. Our results indicated that genetic polymorphism of ORAI1 gene is involved in the susceptibility of RA in a Taiwanese population.

摘要

类风湿性关节炎(RA)是一种通常发生在滑膜组织和关节的慢性炎症性疾病,与遗传和环境因素高度相关。ORAI1是一种与细胞免疫系统相关的基因,已被证明参与慢性炎症性疾病和免疫疾病的发病机制。为了确定ORAI1基因是否与RA易感性有关,我们招募了400例RA患者和621名健康个体进行病例对照基因关联研究。选择ORAI1基因内的五个标签单核苷酸多态性(tSPN)进行基因分型。一个单核苷酸多态性(SNP),rs7135617,与RA风险显示出显著相关性。我们的结果表明,ORAI1基因的遗传多态性参与了台湾人群中RA的易感性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77e1/3997980/5340ea410a94/MI2014-834831.001.jpg

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