HO-1基因启动子区多态性与客家人群糖尿病个体冠心病患病风险关联

A polymorphism in HO-1 gene promoter increases risk for coronary artery disease and KeJia population

目的：通过检测客家人群冠心病患者HO-1基因启动子区GT重复多态性,旨在阐明HO-1基因多态性与冠心病易感性的关联。方法：选择广东梅州客家地区确诊的冠心病患者100例为病例组,经冠状动脉造影或无创检查排除冠心病的个体100例为对照组。采用荧光标记PCR和毛细管电泳相结合技术检测HO-1启动子区（GT）n多态性并进行基因分型,结合冠心病危险因素,比较携带不同等位基因/基因型的患者冠心病的患病风险。结果：（GT）n重复次数在16~39之间,将（GT）n重复系列分为L（n〉30）和S（n≤29）2种等位基因,S/S、S/L、L/L3种基因型。病例组与对照组个体基因型分布差异无统计学意义（校正后OR=1.13,95%CI=0.95~1.24）,但分层分析后发现携带L等位基因（S/L＋L/L基因型）的糖尿病个体冠心病的发病风险增加更显著（校正后OR=2.29,95%CI=1.06~4.80）。结论：HO-1基因多态性与客家人群冠心病易感性相关,能明显增加糖尿病个体冠心病患病风险。

Objective：This study is designed to investigate the relationship between short tandem repeat（STR） polymorphism in Heme oxygenase-1（HO-1） gene promoter and susceptibility of CAD in Ke-jia population,contributes to provide a new strategy for prevention and treatment of CAD by using HO-1 for this population.Method：A total of 100 patients who were diagnosed as having CADs were selected in this study,another 100 subjects who were without evidence of CADs with their sex and age similar to CAD patients were selected as controls.Genotyping was performed using polymerase chain reaction followed by capillary electrophoresis automated DNA sequencer.Each size of the（GT）n repeat was calculated using the Gene Mapper Analysis software.Result：A（GT）n polymorphism was found in the HO-1 gene promoter with n=16-39.According to reference,the alleles were then classified into two subgroups： ＇S＇ allele（n29） and ＇L＇ allele（n29）,the subjects were then classified as having an S/S,S/L,or L/L genotypes.Distributions of genotypes were similar between cases and controls,but not after stratified analysis,L allele（L/L＋L/S genotypes） is susceptive to CAD in patients with diabetes（adjusted OR=2.29,95%CI=1.06-4.80）.Conclusion：The（GT）n polymorphism in HO-1 gene promoter is related to susceptibility to CAD in patients with diabetes.