ABCA1基因rs363717与冠心病易感性的关联研究

The studies of the association between ABCA1 gene rs363717 with blood lipids and coronary heart disease susceptibility

关键词:  三磷酸腺苷结合盒转运体A1  基因多态性  血脂  冠心病

Key words:  ATP binding cassette subfamily A1  genetic polymorphism  blood lipid  coronary heart disease

摘要:

[目的]探讨中国男性汉族人群冠心病易感性与三磷酸腺苷结合盒转运体A1（ABCA1）基因rs363717多态性位点基因型间的关联性。[方法]本文研究对象包括165例符合世界卫生组织制定的冠心病的定义以及诊断标准的冠心病患者（冠心病组）以及165例健康人（对照组），采用调查问卷等方式搜集两组受试者年龄、收缩压、舒张压、血总胆固醇水平、甘油三酯水平、高密度脂蛋白水平、低密度脂蛋白水平、空腹血糖以及是否合并高血压、糖尿病、吸烟及饮酒方面的基本信息；测定两组受试者ABCA1基因rs363717多态性位点的基因型并计算相应的等位基因型频率；测定冠心病组受试者ABCA1基因rs363717多态性位点的血脂水平；此外，分析ABCA1基因rs363717多态性基因型频率与冠心病患者冠状动脉病变程度的关联；两组受试者中等位基因频率是否满足群体代表性通过Hardy-Weinberg平衡来检验。[结果]冠心病组受试者ABCA1基因rs363717多态性位点的A等位基因频率（76.06%）高于正常对照组（66.67%），且差异存在统计学意义（P<0.05）；AA基因型与（AG+GG）基因型在血总胆固醇、甘油三酯、高密度脂蛋白以及低密度脂蛋白水平上均不存在显著差异（P>0.05）。此外未发现血管病变支数与ABCA1基因rs363717多态性位点等位基因之间的关联性。[结论]ABCA1基因的rs363717位点多态性可能与冠心病易感性相关，G等位基因可能是冠心病的保护位点。

Abstract:

[Objective] To explore the association between susceptibility to coronary heart disease (CHD) and polymorphism site genotype of ATP binding cassette transporter A1 (ABCA1) gene rs363717 in Chinese male Han population.[Methods] The subjects of this study include 165 patients meet the world health organization's definition and criteria for diagnosis of CHD, and 165 cases of healthy people (control group). The basic information of age, systolic pressure, diastolic pressure, serum total cholesterol, triglyceride, high-density lipoprotein cholesterol, low density lipoprotein cholesterol levels, fasting plasma glucose whether to have high blood pressure, diabetes, smoking and drinking and other basic information of the two groups of subjects were collected through questionnaires and other methods. Determination of two groups of subjects ABCA1 gene rs363717 polymorphism loci of type and calculate the corresponding allele genotype frequency. The blood lipid level of the ABCA1 gene rs363717 polymorphism site in the CHD group was measured, and the association between the genotype frequency of ABCA1 gene rs363717 polymorphism and the severity of CHD in patients with coronary heart disease was analyzed. Whether the allele frequencies in the two groups of subjects meet the population representativeness was tested by Hardy Weinberg equilibrium.[Results] The A allele frequency (76.06%) of the polymorphism site of the ABCA1 gene rs363717 in the CHD group was higher than that in the control group (66.67%), and the difference was statistically significant (P<0.05);AA genotype and (AG+GG) genotypes in serum leels of total cholesterol, triglycerides, high-density lipoprotein cholesterol and low density lipoprotein cholesterol level were no significant difference (P>0.05). In addition, there was no correlation between the number of existing vascular lesions and the allele at the polymorphism site of ABCA1 gene rs363717.[Conclusion] ABCA1 gene rs363717 polymorphism loci may be associated with the onset of CHD, the G allele may be the protection sites of CHD.