Association between CTLA-4 gene polymorphism and myasthenia gravis in a Chinese cohort

Publication date: November 2019Source: Journal of Clinical Neuroscience, Volume 69Author(s): Gao-Mei Cai, Zhe Gao, Yao-Xian Yue, Yan-Chen Xie, Xiang Gao, Hong-Jun Hao, Xian-Jun Zhang, Qi Wang, Bing Liang, Hai-Feng LiAbstractAbnormal CTLA-4 expression is involved in the development of myasthenia gravis (MG), and serum CTLA-4 levels are positively correlated with serum anti-AChR antibody concentration, which might be related with the severity of MG. Polymorphism in CTLA-4 gene is associated with various autoimmune disorders. We investigated the association of polymorphism in CTLA-4 gene with the clinical variables and severity of MG. The frequencies of alleles and genotypes were compared between 480 MG patients and 487 healthy controls, as well as among subgroups of MG patients. The frequency of rs733618*C allele is significantly higher in MG group and several subgroups than in control group. Genotype is not found as independent factor for essential clinical variables of MG. The frequency of rs231775*A allele is significantly lower in ocular onset subgroup than in control group, and the frequencies of rs231775*A allele and rs3087243*A allele are significantly lower in ocular onset subgroup than in generalized onset subgroup. Genotypes of the two SNPs are found as independent factors for ocular onset. The frequency of rs231775*A allele is significantly lower in mild subgroup than that in control group. Genotype is not found as independent factor for mild severity. A haplotype co...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research