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目的探讨TLR9基因rs352140位点多态性与重症肌无力(MG)的关系。方法采用聚合酶链反应-限制性内切酶片段多态性(PCR-RFLP)方法检测MG患者TLR9基因rs352140位点的多态性,比较各基因型和等位基因在MG患者不同性别、发病年龄、胸腺瘤伴发情况、Osserman分型、最大严重程度等亚组中的分布并观察其与MG严重程度和糖皮质激素近期疗效的关系。结果 MG组和对照组间以及MG各亚组间基因型和等位基因频率无统计学差异(P>0.05);糖皮质激素近期疗效差的患者中全身型比例高于眼肌型(OR=3.592,P=0.03),伴胸腺瘤者比例高于不伴胸腺瘤者(OR=4.350,P=0.016);糖皮质激素疗效差者治疗前平均定量MG评分(QMG)高于疗效好者(P=0.026);经多因素Logistic回归分析发现治疗前QMG评分越高激素疗效越差(OR=1.154,P=0.043)。结论 TLR9基因rs352140位点多态性与MG易感性无相关性,也与激素近期疗效无相关性。
Objective To investigate the relationship between rs352140 polymorphism of TLR9 gene and myasthenia gravis (MG). Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the rs352140 polymorphism of TLR9 gene in MG patients. The genotypes and alleles of MG were compared between different genders and patients with MG Age, the incidence of thymoma, Osserman classification, the maximum severity of the subgroup distribution and to observe its relationship with the severity of MG and the immediate effect of glucocorticoid. Results There was no significant difference in genotype and allele frequency between MG group and control group and MG subgroups (P> 0.05). The proportion of patients with poor immediate response to glucocorticoid was higher than that of ocular muscle type (OR = 3.592, P = 0.03). The proportion of patients with thymoma was higher than those without thymoma (OR = 4.350, P = 0.016) P = 0.026). The multivariate Logistic regression analysis showed that the higher the QMG score before treatment, the worse the effect of hormones (OR = 1.154, P = 0.043). Conclusion The rs352140 polymorphism of TLR9 gene has no correlation with susceptibility to MG, but also has no correlation with the short-term effect of hormone therapy.