脂蛋白脂酶基因和对氧磷酶1基因联合作用与脑梗死发病的相关性

Gene-gene interaction between LPL and PON1 gene with cerebral infarction

目的探讨脂蛋白脂酶(LPL)、对氧磷酶1(PON1)基因联合作用与脑梗死发病的相关性。方法选取LPL基因2个SNP和PON1基因2个标签SNP,采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术,对705例脑梗死患者和431例对照组人群进行检测,应用UNPHASED软件、等位基因条件分析的方法,分析基因的联合作用与脑梗死的相关性。结果 LPL基因rs328位点G等位基因分布在动脉粥样硬化性脑梗死组与对照组差异显著(χ2=4.83,P=0.034,OR=1.47,95%CI=1.03～2.13);rs326位点G等位基因分布在动脉粥样硬化性脑梗死组与对照组差异显著(χ2=3.597,P=0.047,OR=1.64,95%CI=1.12～1.84);PON1基因上的rs2299262位点与LPL基因上的rs328位点联合作用与脑梗死的发病具有相关性(χ2=6.26,df=2,P=0.043)。结论 LPL基因rs328位点G等位基因携带者患大动脉粥样硬化性脑梗死的风险高于非携带者。LPL基因rs326位点G等位基因携带者患大动脉粥样硬化性脑梗死的风险高于非携带者。PON1基因上的rs2299262位点与LPL基因上的rs328位点联合作用与脑梗死的发病具有相关性。

Objective To investigate the gene-gene interaction between LPL and PON1 gene with cerebral infarction.Methods A case-control study was performed within 705 acute ischemic stroke patients and 431 controls.LPL gene rs328,rs326,PON1 gene rs2299262,rs854552,rs662 genotypes were determined by PCR-RFLP.Results Allelic frequencies of rs328 at LPL locus showed significant difference between arteriosclerotic thrombotic cerebral infarction and control groups.Odds radio（OR） was 1.47（χ2=4.83,P=0.034,OR=1.47,95%CI=1.03~2.13）.Allelic frequencies of rs326 and at LPL locus showed significant difference between arteriosclerotic thrombotic cerebral infarction and control groups.Odds radio（OR） was 1.64（χ2=3.597,P=0.047,OR=1.64,95%CI=1.12~1.84）.rs229262 on PON1 gene and rs328 on LPL gene had synergy on ischemic stroke（χ2=6.26,df=2,P=0.043）.Conclusion rs229262 on PON1 gene and rs328 on LPL gene have synergy on ischemic stroke.