自身免疫调节因子基因多态性与重症肌无力的相关性

Association between autoimmune regulator Gene Polymorphisms and Myasthenia gravis

目的探索自身免疫调节因子AIRE基因rs3761389和rs1800520位点多态性与重症肌无力(MG)的易感性和严重程度的相关性。方法采用i MLDR技术对AIRE基因rs3761389和rs1800520位点进行基因分型,比较等位基因频率在480例MG患者(MG组)、487例健康对照者(对照组)以及MG各亚组的分布。在共显性、加性和过显性遗传模型下比较基因型频率。结果 rs3761389位点G等位基因MG组高于对照组,差异有统计学意义(P=0.035),基因型频率在加性模型下差异有统计学意义(P=0.046)。rs1800520位点MG组与对照组比较差异均无统计学意义。结论 AIRE基因rs3761389位点可能与MG的易感性相关,未发现其与MG严重程度相关;未发现rs1800520位点与MG的易感性和严重程度相关。

Objective To explore the association between autoimmune regulator （ AIRE） gene polymorphism and the susceptibility and severity of myasthenia gravis （ MG ） .Methods The rs3761389 and rs1800520 polymorphisms were determined by iMLDR technique .The frequencies of alleles were compared between 480 MG patients（MG group） and 487 healthy controls（control group）, as well as among subgroups of MG patients .Genotype frequencies were compared under codominant , log-additive and overdominant models .Results The frequency of G allele of rs3761389 in MG group was significantly higher than that in the control group （ P=0.035 ） .There were significant differences in the frequencies of rs 3761389 genotype between MG group and the control group under log-additive model （P=0.046）.Rs1800520 showed no significant differences in the frequencies of alleles and genotypes between MG group and control group .Conclusions The rs3761389 polymorphisms of AIRE gene may be associated with the susceptibility of MG ,but not with the severity of MG .The rs1800520 polymorphisms may not be associated with the susceptibility and severity of MG .