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Ann Hum Genet. 2018 Nov;82(6):358-369. doi: 10.1111/ahg.12262. Epub 2018 Jul 15.

Association of CTLA-4 polymorphisms with increased risks of myasthenia gravis.

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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.


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.


Cytotoxic T-lymphocyte-associated antigen-4; autoimmune disorder; meta-analysis; variants

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