TLR3基因多态性与汉族人群重症肌无力的相关性-神经病学专业论文.docxVIP

万方数据 万方数据 TLR3 Gene Polymorphisms are associated with Ocular Myasthenia Gravis in Chinese Patients Objective To investigate whether the rs3775290, rs3775296 ,rs5743303 and rs5743305 polymorphisms of TLR3 are associated with the susceptibility and severity of MG in Chinese patients. Methods We evaluated four SNPs that span the TLR3 genes. TLR3 gene polymorphisms were indentified by SNPscanTM technique. The frequencies of alleles and genotypes were compared between 480 MG patients and 487 healthy controls, as well as among subgroups of MG patients. Subgroups were divided by onset age, thymoma, anti-AChR antibody, involvement at onset, maximal involvement within 2 years and Oosterhuis score at the maximal severity in 2 years during the MG course. Results There are no significant differences in the frequencies of alleles or genotypes in TLR3 genes between MG and control groups, expected the genotype frequencies in co-dominance genetic model of rs3775296 and rs5743303 (PFDR 0.05). There also exist statistically differeces in allele and genotype frequencies among some of MG subgroups and controls in rs3775290, rs3775296 and rs5743303 (PFDR 0.05). In addition, the frequency of the A-T-A haplotype formed by rs5743303-rs5743305-rs3775296 was aslo significantly different. Conclusion The rs3775290, rs3775296 and rs5743303 polymorphisms of TLR3 may be associated with the susceptibility of MG in Chinese patients; rs3775296 polymorphisms may be associated with the severity of MG, while we have not found the relationship between rs3775296 and rs5743303 polymorphisms and MG severity. The rs5743305 polymorphisms may not be associated with the susceptibility and severity of MG. Postergraduate student: Ding Xiaojun(Neurology) Directed by Prof. Hai-Feng Li Key words：myasthenia gravis; Toll-like receptor3; gene polymorphism；susceptiblity; severity 目 录 引 言 1 第一章 对象与方法 2 1.1 对象 2 1.2 方法 2 1.3 统计方法 5 第二章 结果 6 2.1 一般情况 6 2.2 MG 组与对照组比较 6 2.3 MG 各亚组间及各亚组与对照组比较 6 2.4 连锁不平衡和单倍型分析 8