维生素D受体基因多态性与特发性癫痫的相关性

目的：探讨维生素D受体基因多态性与特发性癫痫的相关性。方法：通过病例对照研究方法，选取91例特发性癫痫患者作为病例组，另选取同期105例健康者作为对照组，抽取所有研究对象外周静脉血提取DNA，采用PCR直接测序法进行维生素D受体基因BsmI（rs1544410）、FokI（rs2228570）、Cdx2（rs11568820）位点多态性检测。结果：病例组与对照组的BsmI与FokI位点基因型频率和等位基因频率无显著差异（P>0.05）；Cdx2位点基因型频率存在显著差异（χ²=6.67，P=0.036），等位基因频率无显著差异，该位点发生A/G变异，分布不处于Hardy-Weinberg遗传平衡。在Cdx2位点基因型与特发性癫痫关联性分析中，病例组中Cdx2位点AG基因型是特发性癫痫发病的危险因素（OR=2.222，95% CI：1.190~4.150，P=0.027）。结论：维生素D受体基因Cdx2位点多态性与特发性癫痫具有关联性。

Relationship between vitamin D receptor gene polymorphism and idiopathic epilepsy

OBJECTIVE To investigate the association between vitamin D receptor gene polymorphism and idiopathic epilepsy.METHEDS A case-control study was conducted in 91 patients with idiopathic epilepsy and 105 healthy controls.DNA was extracted from peripheral venous blood of all subjects.Polymorphisms of vitamin D receptor gene BsmI (rs 1544410),FokI (rs 2228570) and Cdx2 (rs 11568820) were detected by PCR direct sequencing.RESULTS There was no significant difference in genotype frequency and allele frequency between case group and control group (P>0.05).There was a significant difference in gene frequency (χ²=6.67,P=0.036) at locus Cdx2 and the control group,but no significant difference was observed in allele frequency.A/G mutation was found at this locus,and the distribution was not in conformity with the Hardy-Weinberg genetic equilibrium.In the association analysis of Cdx2 genotype and idiopathic epilepsy,the AG genotype of Cdx2 was the risk factor of idiopathic epilepsy (OR=2.222,95% CI:1.190~4.150,P=0.027).CONCLUSION The polymorphism of Cdx2 locus of vitamin D receptor gene is associated with idiopathic epilepsy