CTLA4基因变异及其单倍型与重症肌无力发病相关.pdf

CTLA4 Variants and Haplotype Contribute Genetic Susceptibility to Myasthenia Gravis in Northern Chinese Population 1. 2. 3 4 5 1 3 Liang Sun , Yunxiao Meng , Yanchen Xie *, Hua Zhang , Zheng Zhang , Xiaoxia Wang , Bin Jiang , 4 3 1 Wei Li , Yao Li , Ze Yang * 1The key Laboratory of Geriatrics, Beijing Hospital Beijing Institute of Geriatrics, Ministry of Health, Beijing, China, 2 Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Tsinghua University, Beijing, China, 3 Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing, China, 4 Department of Neurology, Beijing Hospital, Ministry of Health, Beijing, China, 5 Department of Public Health, Ningxia Medical University, Yinchuan, China Abstract Background: Cytotoxic T lymphocyte-associated antigen-4 (CTLA4), a critical negative regulator of the T-cell response, has been considered a candidate for many autoimmune diseases. Evidence from Caucasians supported a genetic predisposition of CTLA4 to myasthenia gravis (MG), but the contribution in East Asians has not been established. Objectives: To investigate the role of CTLA4 variants in the susceptibility to MG and the contribution to subtypes of MG. Methods: Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs4553808, rs5742909, rs231775, and rs3087243) were investigated for MG in northern Chinese. 168 patients with MG (mean age 37.1620.5 years, 64 men and 104 women) and 233 healthy controls (mean age 53.368.7 years, 96 men and 137 women) were screened, and the contribution of CTLA4 to the general risk of MG and each subgroup was e