CYP2C19、CYP3A5基因多态性与心肌梗死的相关性研究

目的探讨CYP2C19、CYP3A5基因的多态性与心肌梗死发病风险的相关性。方法随机选取心肌梗死患者及健康对照各500例,采用荧光PCR法和Sanger测序分别检测其CYP2C19、CYP3A5基因的多态性,用Logistic回归分析其与心肌梗死的相关性,用Quanto软件评估统计学效能。结果CYP2C19基因rs4986893位点的AG、GG基因型和A等位基因的频率以及CYP3A5基因rs776746位点的AA、AG、GG基因型和G等位基因频率在两组之间的差异具有统计学意义(P<0.05),CYP2C19基因rs4244285、rs12248560位点的基因型和等位基因以及rs4986893位点的AA基因型的频率在两组之间差异无统计学意义(P>0.05)。在校正年龄、性别、体质指数后,Logistic回归分析显示CYP2C19基因rs4986893的AG基因型和A等位基因以及CYP3A5基因rs776746的GG基因型和G等位基因可能是心肌梗死发病的风险因素,而rs4986893的GG基因型以及rs776746的AA、AG基因型可能是心肌梗死的保护因素。依据样本量、样本结构和等位基因频率以及Quanto分析,本研究的结果具有理想的统计学效能(99%)。结论CYP2C19、CYP3A5基因的多态性可能增加心肌梗死的发病风险。

Association of CYP2C19 and CYP3A5 gene polymorphisms with myocardial infarction

Objective To assess the association of CYP2C19 and CYP3A5 gene polymorphisms with the risk of myocardial infarction.Methods Five hundred patients with myocardial infarction and 500 healthy controls were randomly selected.Fluorescent PCR and Sanger sequencing were used to detect the CYP2C19 and CYP3A5 gene polymorphisms.Logistic regression was used to analyze the correlation between the polymorphisms and myocardial infarction.Quanto software was used to evaluate the statistical power.Results The two groups had significant difference in the frequency of AG,GG genotypes and A allele of the CYP2C19 gene rs4986893 locus and the AA,AG,GG genotypes and G allele of the CYP3A5 gene rs776746 locus(P<0.05),but not in the frequency of genotypes and alleles of CYP2C19 gene rs4244285 and rs12248560 loci,and the AA genotype of the rs4986893 locus.After correction for age,gender,and body mass index,Logistic regression indicated that the AG genotype and A allele of the CYP2C19 gene rs4986893 locus,and the GG genotype and G allele of CYP3A5 gene rs776746 locus are associated with susceptibility of myocardial infarction,while rs4986893 GG genotype and AA and AG genotypes of rs776746 may confer a protective effect.Based on the sample size and allele frequency,analysis with Quanto software suggested that the result of this study has a statistical power of 99%.Conclusion CYP2C19 and CYP3A5 gene polymorphisms may increase the risk for myocardial infarction.