维生素D受体基因Tru9I位点多态性与重症肌无力的相关性  

Association between vitamin D receptor gene Tru9I polymorphism and myasthenia gravis

作　　者：韩继兰[1] 李海峰[1] 谢琰臣[3] 孙亮[4] 王梓炫[5] 徐昕[1] 王淑霞[6] 王芹芹[1] 高翔[1] 姚如永[2] 周晓彬[7] 

机构地区：[1]青岛大学医学院附属医院神经内科,266003 [2]青岛大学医学院附属医院中心实验室,266003 [3]首都医科大学附属北京友谊医院神经内科 [4]卫生部北京医院北京老年医学研究所 [5]青岛市第三人民医院神经科 [6]聊城市第二人民医院神经科 [7]青岛大学医学院流行病学和卫生统计学教研室

出　　处：《中华医学杂志》2012年第29期2028-2033,共6页National Medical Journal of China

基　　金：基金项目：国家自然科学基金（81070963、30700242、30801208）;山东省自然科学基金（ZR2010HM019）;北京市自然科学基金（7092092）

摘　　要：目的探讨维生素D受体（VDR）基因Tru9I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一限制性内切酶片段（PCR-RFLP）多态性方法检测2006年12月至2010年7月于青岛大学医学院附属医院和北京友谊医院神经科诊治的MG患者和健康对照组VDR基因Tru9I位点的多态性，并观察其与MG易感性、严重程度和激素近期疗效的相关性。应用SPSS17．0统计软件进行统计学分析。结果在发病年龄≥15岁的患者中，女性TT基因型和tt基因型比例低于对照组女性，而Tt基因型高于对照组女性，差异有统计学意义（x2=8．847，P=0．012）。因t等位基因为变异型，故将携带t等位基因的基因型（Tt＋tt）合并，发现女性Tt＋tt比例（58／139，41．7％）高于对照组女性（56／189，29．6％），差异有统计学意义（OR=1．70，95％CI1．07—3．41，x2=5．169，P=0．023）。女性t等位基因的比例（61／278，21．9％）高于对照组女性（65／378，17．2％），但差异无统计学意义（P〉0．05）。不同严重程度和不同激素短期疗效的MG患者基因型及等位基因频率的差异无统计学意义（P〉0．05）。结论VDR基因Tru91位点多态性可能与发病年龄≥15岁的女性MG发病风险相关。Objective To explore the associations between vitamin D receptor （VDR） gene Tru9I polymorphism and myasthenia gravis （MG）. Methods A total of 302 MG patients, diagnosed and treated at Affiliated Hospital of Medical College, Qingdao University and Beijing Friendship Hospital from December 2006 to July 2010, were recruited. And 283 normal subjects were selected as the controls. Tru9I polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. The frequencies of genotypes and alleles were compared among different MG subgroups and control group. The relationship between the genotype and susceptibility or severity of MG and immediate efficacies of glucocorticoid were explored. The SPSS17.0 was applied to statistical analysis. Results In the MG patients whose age of onset was above 15 years, the frequency of TT and tt genotypes in females was lower than that of the control group. However the frequency of Tt genotype was higher than that of the control group. And there were significant differences （ X2 = 8. 847, P = 0. 012 ）. The frequency of Tt ＋ tt genotype in females （58/139, 41.7% ） was higher than that of the control group （56/189, 29.6% ）. And there were also significant differences （ OR = 1.70, 95% CI 1.07 - 3.41, x2 = 5. 169, P = 0. 023 ）. Although the frequency of t alleles in females （61/278, 21.9% ） was higher than that of the control group （65/378, 17.2% ）, no significant differences existed （ P 〉 0. 05 ）. There were no differences in frequencies of genotypes and alleles between the patients with varying severity and different immediate efficacies of glucocorticoid （ P 〉 0.05 ）. Conclusion VDR gene Tru9I polymorphism may be related to the risk of MG in females aged above 15 years.

关 键 词：重症肌无力 维生素D受体 基因多态性 

分 类 号：R746[医药卫生—神经病学与精神病学]