脂蛋白脂酶Ser447Stop基因多态与脑梗死的相关性

目的 探讨脂蛋白脂酶(LPL)Ser447Stop基因多态与脑梗死的相关性.方法 受试者共883人,其中脑梗死组563例包括动脉粥样硬化(AS)性脑梗死329例和腔隙性脑梗死234例],对照组320名,应用聚合酶链反应一限制性片段长度多态性方法,对LPL基因Ser447Stop位点进行基因多态性检测.结果 脑梗死组、AS性脑梗死组和腔隙性脑梗死组LPL Ser447Stop GG+CG基因型频率与对照组相比,差异无统计学意义,AS性脑梗死组G变异等位基因频率(64例,9.7%)与对照组(42例,6.6%)相比差异有统计学意义(X2=3.99,P=0.045).相对于C等位基因,G等位基因的彻值为1.510(95%C/1.012～2.261).结论 LPL Ser447Stop G变异等位基因携带者患AS性脑梗死的危险高于非携带者.G变异等位基因可能是AS性脑梗死高危险性的遗传标志之一.

Association study of lipoprotein lipase Ser447Stop polymorphisms with acute ischemic stroke

Objective To investigate the genetic association between polymorphisms of Ser447Stop in lipoprotein lipase (LPL) gene and ischemic stroke. Methods A case-control study was performed in 563 acute ischemic stroke patients and 320 controls. LPL Ser447Stop genotypes in the subjects were detected by polymerase chain reaction and restriction fragment length polymorphism assay. The frequencies of the alleles in each group were statistically analyzed with Student t-test. Results No significant difference was found in the frequency of G allele of LPL Ser447Stop polymorphism between the case and the control. When subjects were divided into 2 subgroups of cerebral thrombosis infarction and lacunar infarction, the frequency of G allele was significantly higher in the cerebral thrombosis infarction group (9. 7％ ) than that in the control (6. 6％, χ2= 3. 99,P = 0. 045 ), and an increased risk for thrombosis infarction was suggested in the G allele ( OR = 1. 510, 95％ CI 1. 012--2. 261 ). Conclusion The G allele in polyim Ser447Stop in LPL may be associated with increased risk of cerebral thrombosis infarction.