对氧磷酶1基因262位点C/T多态性与脑梗死的关联性分析

目的：探讨中国北方汉族人群中对氧磷酶1（PON1）基因的rs2299262标签位点（htSNP）多态性与脑梗死的关联性，阐明rs2299262是否可作为动脉粥样硬化有关联的一个遗传标记。方法：共纳入529例脑梗死患者(病例组)和305例正常对照人群(对照组)，将脑梗死组按TOAST分型标准分为大动脉粥样硬化性脑梗死组304例，腔隙性脑梗死组225例。采用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法，检测各组PON1基因的多态性，应用统计学软件分析基因多态性与脑梗死的关系。结果：大动脉粥样硬化性脑梗死组T等位基因频数分布与对照组比较差异有显著性（P<0.05）。病例组总体、大动脉粥样硬化性脑梗死组和腔隙性脑梗死组rs2299262位点基因型频数分布与对照组比较差异无显著性（P>0.05）。PON1基因rs2299262位点基因型及等位基因频数分布经性别分层后与对照组比较差异均无显著性（P>0.05）。结论：PON1基因rs2299262位点T等位基因携带者患大动脉粥样硬化性脑梗死的危险高于非携带者，rs2299262位点可能是与大动脉粥样硬化性脑梗死有关联的一个遗传标记。

Relationship analysis between C (-262) T polymorphism of PON1 gene and cerebral infarction

Objective To investigate the relationship between PON1 rs2299262 htSNP polymorphism and cerebral infarction in Chinese northern Han population,and to illustrate whether rs2299262 is a genetic marker of large artery atherosclerotic infarction.Methods A case-control study was performed including 529 cerebral infarction patients and 305 normal subjects.In addition,the cerebral infarction patients were sub-grouped into 304 large artery atherosclerotic infarction patients and 225 lacunar infarction patients base...