CAJ | 학술논문

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。
목적：탐토거정합소금속단백매（ADAM）17기인계동자구적기인다태성여강극성뇌경사발병적관계。방법본연구공납입173례강극성뇌경사환자화295례대조조인군，이위우ADAM17기인계동자구적rs12692386화rs1524668위점위유전표기，채용SnapShot적분형기술검측ADAM17기인적다태성。결과강극성뇌경사조ADAM17 rs12692386위점화rs1524668적기인형화등위기인빈솔여대조조상비무현저성차이（P＞0.05）。대환자진행성별、년령적아조분류후，ADAM17 rs12692386화rs1524668위점적기인형화등위기인빈솔재강극성뇌경사조화대조조지간무현저성차이（P＞0.05）。휴대 ADAM17다태정상기인형화돌변기인형적강극성뇌경사환자지간적경동맥내중막후도역무현저성차이（P＞0.05）。결론 ADAM17기인rs12692386화rs1524668위점적다태성가능여강극성뇌경사적발병무관。
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.