多环芳香烃受体基因rs2066853与冠心病遗传易感性研究

AhR rs2066853 is Associated with Coronary Heart Disease

目的研究多环芳香烃受体基因(AhR)多态性位点rs2066853与冠心病易感性的关系。方法采用病例-对照研究方法,以205例经冠脉造影检查确诊的宁夏汉族冠心病患者及190例宁夏健康汉族对照为研究对象,应用等位基因特异性-聚合酶链式反应(AS-PCR)检测AhR rs2066853基因型,病例组和对照组中AhR rs2066853基因型频率和等位基因频率之间的差异用χ~2检验确定;AhR rs2066853基因和冠心病的相关性用OR和95%CI确定。结果 AhR rs2066853的三种基因型AA、AG和GG在病例组和对照组分布差异有统计学意义(χ~2=6.48,P<0.05);携带变异基因G发生冠心病的危险性比携带变异基因A高。与野生型相比,杂合突变型AG和纯合突变型GG基因的OR值分别为1.43(95%CI:0.88~2.18)和2.37(95%CI:1.22~5.50)。结论 AhR rs2066853变异基因G可能与冠心病发病有关。

Objective To investigate the association between AhR rs2066853 and coronary heart disease （CHD）. Methods The subjects included 205 unrelated patients suffering from CHD confirmed by Coronary angiogram and 190 unrelated health controls. All the subjects were the Chinese Han population. The Allele-specific PCR was conducted to determine the genotype of AhR rs2066853. Genotype frequencies in eases and controls were compared by X2 tests. Odds ratio （OR） and 95% confidence interval（CI） were used to estimate the relevance between the genotypes and risks of CHD. Results Control group and case group were significantly different in the distribution of GG,CG and CC genotypes of AhR rs2066853 （P〈0.05）. It was found that the individuals carried mutated G allele had an increasing risk of CHD than those who carried a wild allele （P〈0.05）. Conclusion AhR rs2066853 might be one of the genetic risk factors of CHD.