血小板内皮细胞黏附分子-1基因Leu125Val多态性与冠心病及危险因素的关系

Relation between polymorphism of platelet endothelial cell adhesion molecule-1 gene Leu125Val and coronary heart disease

目的研究血小板内皮细胞黏附分子-1(PECAM-1)基因Leu125Val(C/G)基因型和等位基因频率分布的遗传背景,探讨PECAM-1基因多态性与湖北地区汉族人冠心病患者的关系。方法选择1 325例湖北地区汉族人为研究对象,分为冠心病组(600例)和正常对照组(725例),采用PCR-RFLP方法检测空腹血清总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白(LDL)、高密度脂蛋白(HDL)、血压、身高、体重及腰围(WC)等临床参数,并计算体重指数(BMI)。结果冠心病组PECAM-1基因GG基因型频率(42.0%)高于正常对照组(20.3%,P<0.01)。与正常对照组比较,冠心病组G等位基因频率(60.6%)明显升高,而C等位基因频率(39.4%)明显降低,冠心病组G等位基因型携带者TC、TG、LDL、收缩压水平显著高于C等位基因型携带者(P<0.05),但HDL水平低。冠心病组PECAM-1基因Leu125Val(C/G)多态性与WC、BMI、舒张压和体重无关。结论PECAM-1基因Leu125Val(C/G)多态现象与湖北地区汉族人冠心病有关,可能是冠心病遗传危险因素之一。

Objective To investigate the genetic background of distribution of platelet endothelial cell adhesion molecule-l（PECAM-1） gene Leu125Val（C/G） genotypes and alleles in the Han nationality of Hubei and correlation between PECAM-1 polymorphism and coronary heart disease. Methods The PECAM-1 gene Leu125Val （C/G） polymorphism was detected by PCR-RELP in 1 325 subjects, including 600 CHD patients and 725 controls. Fasting serum total cholesterol （TC） ,triglyceride（TG）, high density lipoprotein （ HDL）, low-density lipoprotein （LDL）, blood pressure, body weight,waist circumference（WC） and height were measured,and body mass index （BMI） was calculated. Results The frequency of GG genotype in CHD group （42.0%）was obviously higher than that in control group （20.3%, P d0.01）. The frequency of G allele（60.6%） was higher and C allele （39.4%）was lower in CHD group than in control group （ P 〈0.01）. However,the levels of serum TC,TG,LDL and SBP in CHD subjects with G allele were significantly higher than those in subjects with C allele （ P〈0.05） ,but the HDL was lower. There was no association between PECAM-1 gene Leu125Val（C/G） polymorphism and WC, weight, BMI and DBP in CHD. Conclusion There was association between the PECAM-1 gene Leu125Val （C/G）polymorphism and CHD in Chinese Han nationality of Hubei. It may be a genetic risk factor for CHD.