Li Fang, Yuan Wuzhou, Wu Xiushan
The Center for Heart Development, State Key Lab of Development Biology, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.
Ann Hum Genet. 2018 Nov;82(6):358-369. doi: 10.1111/ahg.12262. Epub 2018 Jul 15.
Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. Several recent reports have indicated that single nucleotide polymorphisms (SNPs) of CTLA-4, including rs733618, rs4553808, rs5742909, rs231775, and rs3087243 were associated with the risks of MG; however, the results were not consistent. To assess the correlations between CTLA-4 SNPs and MG susceptibility, a meta-analysis was performed following a series of database searching. A total of 1460 cases and 1652 controls from 12 studies were enrolled in the analysis. Our results indicated that rs231775 and rs733618 were associated with higher risks of MG, providing potential references for future case-control studies.
重症肌无力(MG)被认为是一种自身免疫性疾病,由针对烟碱型乙酰胆碱受体的自身抗体导致神经肌肉传递功能障碍引起。多项研究已将细胞毒性T淋巴细胞相关抗原4(CTLA-4)确定为MG的候选基因。最近的几份报告表明,CTLA-4的单核苷酸多态性(SNP),包括rs733618、rs4553808、rs5742909、rs231775和rs3087243与MG的风险相关;然而,结果并不一致。为了评估CTLA-4 SNP与MG易感性之间的相关性,在进行一系列数据库搜索后进行了一项荟萃分析。该分析共纳入了来自12项研究的1460例病例和1652例对照。我们的结果表明,rs231775和rs733618与MG的较高风险相关,为未来的病例对照研究提供了潜在参考。