ACE基因rs4344多态性及环境因素与海口市汉族人群脑梗死关联研究

Association of ACE gene rs4344 polymorphism and gene-environm-ent interaction with the risk of cerebral infarction in Han population in Haikou city

目的探讨ACE基因rs4344多态性与脑梗死发病风险。方法纳入急性脑梗死患者400例,非卒中对照人群399例,采用MassARRAY分子量阵列技术对rs4344分型,利用SPSS软件分析等位基因频率和五种遗传模型下脑梗死发病风险,利用MDR软件分析基因-环境交互作用。结果调整年龄和性别,在总人群、高血压人群和正常血压人群分析rs4344变异在等位基因及五种遗传模型下与脑梗死风险差异均无统计学意义(均P>0.05)。基因-环境交互作用分析发现rs4344、年龄、吸烟和收缩压组成脑梗死风险的最佳模型(c2=6.187 7;P<0.05)。结论 ACE基因rs4344多态性与脑梗死风险无直接关联,但通过基因-环境交互作用增加脑梗死发病风险。

Objective To investigate the association of ischemic stroke risk with rs4344 polymorphism of ACE gene. Methods A total of 400 patients with acute ischemic stroke and 399 normal controls were collected in the study. MassARRAY arrays were used to genotyping rs4344. Allele frequencies and ischemic stroke risk in five genetic models were analyzed by SPSS software. Gene-environment interaction was analyzed by multifactor dimensionality reduction. Results After adjusted for age and gender confounding factors,there was no statistical difference between rs4344 variant and ischemic stroke risk neither in general population,hypertensive population nor normal blood pressure population under allele genotype and five genetic models. Geneenvironment interaction analysis showed that rs4344,age,smoking,and systolic blood pressure constituted the best model for ischemic stroke risk(c2=6.1877;P<0.05). Conclusion The rs4344 polymorphism of ACE gene is not directly related to ischemic stroke risk;however,it increases ischemic stroke risk through gene-environment interaction.