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目的:探讨中国西北地区汉族人群三磷酸腺苷结合盒转运体A1(ABCA1)的V771 M单核苷酸多态性(SNPs)与血浆HDL水平和冠心病(CHD)的关系。方法:采用病例对照研究,选择经选择性冠状动脉造影(CAG)的中国西北地区汉族人群292例,其中CHD患者176例,正常对照组111例,被剔除5例,聚合酶链反应-限制性片段长度多态性法检测ABCA1-V771 M多态性的基因型,计算V771 M各基因型及等位基因频率分布,分别比较V771 M不同基因型组间临床及血脂生化等指标,分析V771 M多态性对HDL-C水平和CHD的影响。结果:中国西北地区汉族人群的ABCA1-V771 M多态性分布符合Hardy-Weinberg平衡规律,V、M等位基因频率分别为33.91%和66.09%。MM型的HDL-C水平明显低于VV加VM型(P<0.01),但其余血脂成分水平与V771 M各基因型均无相关性(P>0.05)。M等位基因在CHD组的分布频率明显高于V等位基因(P<0.05),M等位基因相关的冠状动脉病变程度显著高于V等位基因(P<0.05),ABCA1-V771 M3种基因型的急性心肌梗死发生率差异无统计学意义(P>0.05)。结论:在中国西北地区汉族人群中,ABCA1-V771 M多态性不仅与血浆HDL-C水平明显相关,而且与CHD易感性及冠状动脉病变严重程度明显相关,V771 M的M等位基因具有致冠状动脉粥样硬化和CHD的遗传学功能。
Objective: To investigate the association of V771 M single nucleotide polymorphisms (SNPs) of ATP-binding cassette transporter A1 (ABCA1) with plasma HDL levels and coronary heart disease (CHD) in Han Chinese population in Northwest China. Methods: A case-control study was conducted in 292 Chinese Han population of Northwest China who underwent selective coronary angiography (CAG). Among them, 176 were CHD patients and 111 were normal controls. Five patients were excluded from the study, and polymerase chain reaction-restriction The genotypes of ABCA1-V771 M polymorphism were detected by fragment length polymorphism and the frequency distribution of V771 M genotypes and alleles were calculated. The clinical and blood lipid biochemical indexes of V771 M genotypes were compared, V771 M Effect of Polymorphism on HDL-C Level and CHD. Results: The distribution of ABCA1-V771 M in Han population in Northwest China was in accordance with the Hardy-Weinberg equilibrium rule. The frequencies of V and M alleles were 33.91% and 66.09% respectively. The HDL-C level in MM group was significantly lower than that in VV plus VM group (P <0.01), but no correlation was found between the other lipid levels and V771 M genotypes (P> 0.05). The distribution frequency of M allele in CHD group was significantly higher than that in V allele (P <0.05), and the severity of coronary lesion in M allele was significantly higher than that in V allele (P <0.05). ABCA1-V771 M3 There was no significant difference in the incidence of genotypes of acute myocardial infarction (P> 0.05). CONCLUSIONS: ABCA1-V771 M polymorphism is not only significantly associated with plasma HDL-C levels but also with CHD susceptibility and the severity of coronary artery disease in Chinese Han population in northwestern China. The M allele of V771 M is associated with Coronary Atherosclerosis and Genetic Function of CHD.