【摘要】 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。更多还原

【Abstract】 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 based on TOAST standard.PON1 rs2299262 genotypes were determined by PCR-RFLP.Results Compared with control group,the rs2299262 T allelic frequency had significant difference in large artery atherosclerotic infarction group(P<0.05).There were no significant differences of the distribution of rs2299262 T allelic frequency between case and control groups (P>0.05).When they were divided by gender,there was no difference of the distribution of PON1 rs2299262 allelic frequency and genotypic frequency between the subgroups and control group (P>0.05).Conclusion The patients with PON1 rs2299262 T allele have a higher risk of large artery atherosclerotic infarction than without it.PON1 gene rs2299262 is probably a genetic marker of large artery atherosclerotic infarction with high risk.更多还原