TLR9基因rs352140位点多态性与重症肌无力的关系  

Associations of TLR9 rs352140 polymorphism with myasthenia gravis

作　　者：王淑霞[1] 李海峰[1] 孙亮[2] 谢琰臣[3] 徐昕[1] 周晓斌[4] 王芹芹[1] 赵媛[3] 杨堃[5] 

机构地区：[1]青岛大学医学院附属医院神经内科,266003 [2]卫生部北京医院老年医学研究所,100730 [3]首都医科大学附属北京友谊医院神经内科,100050 [4]青岛大学医学院统计学教研室,266021 [5]青岛大学医学院附属医院中心实验室,266003

出　　处：《中国神经免疫学和神经病学杂志》2010年第3期183-187,共5页Chinese Journal of Neuroimmunology and Neurology

摘　　要：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 determine the associations between TLR9 rs352140 polymorphism and myasthenia gravis （MG）. Methods TLR9 rs352140 polymorphism was determined by polymerase chain reaction- restriction fragment length polymorphism （PCR-RFLP） method. The frequencies of genotype and alleles were compared among different subgroups classified by gender, age of onset, association of thymoma, Osserman types and maximal severity in the follow-up. The relationship between the genotype and severity of MG and short-term efficiency of glueocorticoid were also explored. Results There were no significant differences in frequencies of genotypes and alleles between MG group and control group, and among subgroups of MG （P〉0.05）. In those with worse short-term efficiency of glucocorticoid, generalized MG patients were more prevalent than ocular MG patients （P = 0.03, OR= 3. 592）, and patients with thymoma were more prevalent than patients without thymoma （P=0. 016, OR=4. 350） ; the mean pretreatment quantitive MG score （QMG） was higher in patients with worse efficiency of glucocortieoid （P=0. 026）. Logistic regression analysis found that the higher QMG, the worse efficiency of glucocorticoid was in MG patients （P=0. 043, OR= 1. 154）. Conclusions There was no significant correlation between TLR9 rs352140 polymorphism and MG susceptibility and glucocorticoid efficiency.

关 键 词：重症肌无力 TOLL样受体-9 基因 多态性 

分 类 号：R746.1[医药卫生—神经病学与精神病学]