Toll样受体9基因多态性与重症肌无力相关性研究

Correlation between Toll-like receptor 9 gene polymorphism and myasthenia gravis

目的探讨Toll样受体9(Toll-like receptor 9,TLR9)基因rs352140和rs187084位点多态性与重症肌无力(myasthenia gravis,MG)的相关性。方法纳入109例MG患者和162例健康体检者。采用聚合酶链反应-限制性内切酶多态性方法对TLR9基因rs352140和rs187084位点分型,并在MG组与对照组、MG各亚组(性别、发病年龄、胸腺情况、最严重时Osserman分型、Oosterhuis评分和激素近期疗效)与对照组、MG各亚组之间比较两位点等位基因频率和共显性、加性、过显性遗传模型下基因型频率的差异。结果 TLR9基因rs352140和rs187084位点等位基因频率和共显性、加性、过显性遗传模型下的基因型频率在MG组与对照组、MG各亚组与对照组及MG各亚组之间差异无统计学意义(P>0.05)。结论 TLR9基因rs352140和rs187084位点多态性与重症肌无力的易感性、严重程度和激素疗效无相关性。

Objective To investigate the correlation between Toll-like receptor 9( TLR9)polymorphism and the susceptibility,severity and short-term effect of glucocorticoid in myasthenia gravis( MG) patients. Methods One hundred and nine MG patients and 162 healthy controls in Han Chinese population were enrolled. Subgroups were divided by gender,onset age,thymoma status,Osserman type, Oosterhuis score and short-term effect of glucocorticoid. Rs352140 and rs187084 were genotyped by polymerase chain reaction-based restriction fragment length polymorphism( PCR-RFLP) method. Allele frequencies and genotype frequencies( under codominant,logadditive and over-dominant mode of inheritance) were compared between MG / control group,MG subgroups / control group and each pairs of MG subgroups. Results In rs352140 and rs187084,there were no significant differences in allele frequencies and genotype frequencies( under codominant,log-additive and over-dominant mode of inheritance) among MG / control group,MG subgroups / control group and MG subgroups( P > 0. 05). Conclusion No correlation was found between rs352140 and rs187084 polymorphisms and the susceptibility,severity and short-term effect of glucocorticoid in myasthenia gravis patients.