脂蛋白磷脂酶A2基因I198T和R92H多态性与中国汉族人群冠心病的相关性

目的:探讨脂蛋白磷脂酶A2基因I198T和R92H多态性位点与中国汉族人群冠心病遗传易感性的关系。方法:纳入173例冠心病患者和101例对照者,应用DNA测序仪测脂蛋白磷脂酶A2基因I198T和R92H的基因型。结果:①冠心病组I198T的基因型和等位基因频率与对照组无明显差异,而R92H的基因型和等位基因频率明显高于对照组(P<0.05);②RH+HH基因型者总胆固醇和低密度脂蛋白胆固醇的水平高于RR基因型者(P<0.01);③IH单倍型与IR单倍型在冠心病组和对照组中的分布均有显著性差异(P<0.01);④Logistic回归分析表明R92H的等位基因92H是冠心病的独立危险因素。结论:脂蛋白磷脂酶A2基因I198T多态性与汉族人群冠心病无明显相关性,R92H多态性与汉族人群冠心病独立相关。

Association of I198T,R92H polymorphisms in lipoprotein-associated phospholipase A2 gene with coronary heart disease in the Chinese Han population

Objective:To investigate the association of I198T and R92H point mutations in lipoprotein-associated phospholipaseA2 (Lp-PLA2)with coronary heart disease(CHD) in the Chinese Han population. Methods:Totally 173 CHD patients and 101 normal controls were genotyped by DNA sequencing instrument. Results:There was no significant difference between the CHD group and the control group in the frequencies of I198T genotypes and allele,but the frequencies of the R92H genotypes and allele were significantly higher in CHD patients than those in normal controls (P < 0.05). The levels of total cholesterol (TC)and low density lipoprotein cholesterol (LDL-C)were significantly higher in the RH+HH genotype group than in the RR genotype group (P < 0.01). The distributions of haplotype IH and IR had a significant difference (P < 0.01)between CHD patients and normal controls. Binary logistic regression analysis demonstrated that polymorphism of R92H was an independent risk factor for CHD. Conclusion:The I198T polymorphism of Lp-PLA2 gene has no significant correlation with coronary heart disease,while the polymorphism of R92H could be associated with risk of CHD in Chinese Han population.