脑梗死患者载脂蛋白AI基因多态性分布的病例对照研究

A case-control study on the distribution of apolipoprotein AI gene polymorphisms in the survivors of atherosclerosis cerebral infarction

目的 观察载脂蛋白AI基因多态性频率在动脉粥样硬化性脑梗死患者中的分布,探讨基因型与脑梗死的关系。方法 用聚合酶链反应技术(PCR)检测北京地区199例脑梗死患者及204例健康人的载脂蛋白AI基因启动子(MspI1,-75bp)和第一内含子(MspI2,+83bp)两个MspI酶切位点限制性片段长度多态性(RLFP)。结果 北京地区403例受检者中载脂蛋白AI基因启动子均以M1++和M1+-为主要基因型,第一内含子大多数为M2++基因型;脑梗组M1+-基因型频率分布明显高于对照组(0.487vs0.368,P<0.05,OR=1.64);脑梗组M1+-/M2++单体型基因型频率显著高于对照组(0.437vs0.314,P<0.05,OR=1.70)。结论 ApoAI基因5′端MspI位点M1+-基因型。

Objective To investigate the frequency of the restrict fragment length polimorphisms (RFLP) at 2 MspI sites in the 5′-end of apolipoprotein AI (ApoAI) gene and its potential interaction to atherosclerotic cerebral infarction (ACI) in Chinese Han population. Method Polymerase chain reaction (PCR) technique was used in a sample of 199 cases with documented ACI and 204 healthy matched by age and sex individuals selected from Chinese Han nationality in Beijing. The studied loci include promoter region (-75 bp) and the intron-1 (+83 bp). Results ⑴Both ACI and control groups M1++ and M1+- were major frequent genotypes in Beijng area,M2++ were major frequent genotypes in intron-1; ⑵ M1+- genotype appeared more common among patients than in controls ( 0.487 vs 0.368 , P < 0.05 , OR = 1.64 ); ⑶ Individuals with M1+-/M2++ haplotype were significantly increased in patients campared with controls ( 0.437 vs 0.314 , P < 0.05 , OR = 1.70 ). Conclusion It is suggested that both M1+- genotype and M1+-/M2++ haplotype of ApoAI gene might associate with ACI in our study.