Han Ji-lan, Li Hai-feng, Xie Yan-chen, Sun Liang, Wang Zi-xuan, Xu Xin, Wang Shu-xia, Wang Qin-qin, Gao Xiang, Yao Ru-yong, Zhou Xiao-bin
Department of Neurology, Affiliated Hospital of Medical College, Qingdao University, Qingdao, China.
Zhonghua Yi Xue Za Zhi. 2012 Aug 7;92(29):2028-33.
To explore the associations between vitamin D receptor (VDR) gene Tru9I polymorphism and myasthenia gravis (MG).
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.
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 (χ(2) = 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, χ(2) = 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).
VDR gene Tru9I polymorphism may be related to the risk of MG in females aged above 15 years.
探讨维生素D受体(VDR)基因Tru9I多态性与重症肌无力(MG)的相关性。
选取2006年12月至2010年7月在青岛大学医学院附属医院及北京友谊医院确诊并治疗的302例MG患者,同时选取283例正常受试者作为对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法检测Tru9I多态性,比较不同MG亚组与对照组之间的基因型和等位基因频率,探讨基因型与MG易感性、严重程度及糖皮质激素近期疗效的关系,应用SPSS17.0软件进行统计学分析。
在发病年龄大于15岁的MG患者中,女性TT和tt基因型频率低于对照组,而Tt基因型频率高于对照组,差异有统计学意义(χ(2)=8.847,P = 0.012)。女性Tt + tt基因型频率(58/139,41.7%)高于对照组(56/189,29.6%),差异有统计学意义(OR = 1.70,95%CI 1.07 - 3.41,χ(2)=5.169,P = 0.023)。虽然女性t等位基因频率(61/278,21.9%)高于对照组(65/378,17.2%),但差异无统计学意义(P > 0.05)。不同严重程度及糖皮质激素近期疗效的患者之间基因型和等位基因频率无差异(P > 0.05)。
VDR基因Tru9I多态性可能与15岁以上女性MG的发病风险有关。