中国北方汉族人群Apolipoprotein基因T-1131C多态与急性冠脉综合征的关联研究

Association of Apolipoprotein T-1131C with Acute Coronary Syndrome in Han Population of North China

目的:探讨ApoA5基因T-1131C多态性与急性冠脉综合征(acute coronary syndrome,ACS)的相关关系。方法:采用聚合酶链反应-限制性片段长度多态性技术结合琼脂糖凝胶电泳和基因测序等方法对675例ACS的患者和660例正常对照组进行检测,分析ApoA5基因T-1131C单核苷酸多态的基因型和等位基因频率的在ACS组和对照组的分布情况。结果:ApoA5基因T-1131C单核苷酸多态在ACS组和对照组间的分布频率皆符合Hardy-Weinberg平衡定律(P>0.05),ApoA5基因T-1131C单核苷酸多态三种基因型(TT型,TC型和CC型)在ACS组分布频率分别为35.4%,48.1%和16.4%,在对照组的分布频率分别为41.1%,48.6%和10.4%。ApoA5基因T-1131C单核苷酸多态的CC等位基因在ACS组和对照组间的分布存在显著性差异(P=0.002),C等位基因是ACS发病的独立的危险因素1.28(P=0.002,95%CI=1.09-1.57)。Logistic回归校正性别、年龄、体重指数、吸烟、高血压、高脂血症、糖尿病等CAD易患因素后,ApoA5基因T-1131C多态与ACS的发病仍存在相关关系。结论:在中国北方汉族人群中ApoA5基因T-1131C多态与ACS的发病相关,ApoA5基因T-1131C多态C等位基因是ACS发病的独立危险因素。

Objective： To investigate the relationship between the T-1131C variant of ApoA5 gene and ACS in Han population of North China.Methods： A case-control study was conducted in 675 patients with ACS and 660 control who had normal coronary angiograms.Polymorphic genotypes were determined by polymerase chain reaction（PCR） and restriction fragment length polymorphism,sequencing analysis.Results： The genotype frequencies in ApoA5 T-1131C polymorphism conformed well to the Hardy-Weinberg equilibrium in both case and control group.The genotype frequencies of GG,GT and TT of ApoA5 T-1131C polymorphism were 41.1 %,48.6 % and 10.4 % in the controls,while they were 35.4 %,48.1 % and 16.4 % in ACS patients respectively.A significantly higher frequency of CC genotype was observed in ACS patients than that in the controls（P=0.002）,The relative risk of ACS in patients carrying C allele was 1.28（P=0.002,95% CI=1.09-1.57）.Logistic regression analysis with adjustments for other risk factors revealed that the T-1131C allele carriers significantly increased risk of ACS compared with the non-carriers.Conclusions： Genetic variations in the ApoA5 gene promoter may contribute to interindividual variability in risk of ACS.The C allele may play an important role in the occurrence of ACS and help to predict susceptible individuals.