去整合素金属蛋白酶17启动子区基因多态性与腔隙性脑梗死的相关性研究

Association study between ADAM17 promoter polymorphisms and lacunar infarction

目的探讨去整合素金属蛋白酶(ADAM)17基因启动子区的基因多态性与腔隙性脑梗死发病的关系。方法本研究共纳入173例腔隙性脑梗死患者和295例对照组人群,以位于ADAM17基因启动子区的rs12692386和rs1524668位点为遗传标记,采用SnapShot的分型技术检测ADAM17基因的多态性。结果腔隙性脑梗死组ADAM17 rs12692386位点和rs1524668的基因型和等位基因频率与对照组相比无显著性差异(P>0.05)。对患者进行性别、年龄的亚组分类后,ADAM17 rs12692386和rs1524668位点的基因型和等位基因频率在腔隙性脑梗死组和对照组之间无显著性差异(P>0.05)。携带ADAM17多态正常基因型和突变基因型的腔隙性脑梗死患者之间的颈动脉内中膜厚度亦无显著性差异(P>0.05)。结论 ADAM17基因rs12692386和rs1524668位点的多态性可能与腔隙性脑梗死的发病无关。

Objective To investigate the potential association between ADAM17 promoter polymorphisms and the risk of lacunar infarction （LI）. Methods The present study recruits 173 patients with LI and 295 controls from the Department of Neurology of the Affiliated Hospital of Guangdong Medical College. Multiplex SNaPshot was used to determine the genotype and allele frequencies of rs12692386 and rs1524668 polymorphisms of the ADAM17 gene. Results The allele and genotype frequencies of ADAM17 polymorphisms （rs12692386 and rs1524668） did not differ significantly between the LI patient and healthy control groups（P〉0.05）. When LI patients were stratified by gender and age, the difference between the genotype and allele frequencies of the ADAM17 polymorphisms （rs12692386 and rs1524668） was not significant（P〉0.05）. The mean intima media thickness in LI patients was not associated with the ADAM17 polymorphisms（P〉0.05）. Conclusion The present study suggests that the ADAM17 rs12692386 and rs1524668 polymorphism do not appear to be major contributors to the etiology of lacunar infarction.