三磷酸腺苷结合盒转运子A1基因R219K多态性与血脂水平关系的研究

Relationship between ATP-binding cassette transporter A1 gene R219K polymorphism and serum lipid levels

目的:探讨三磷酸腺苷结合盒转运子A1基因R219K多态性与血脂水平的关系,寻找冠心病的易感因素。方法:采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术,对227例冠心病患者和162例非冠心病患者的ABCA1基因R219K位点G→A(Arg219Lys)进行检测,分析基因型频率和等位基因频率分布特点,以及与血脂水平的相关性。结果:与对照组比较,冠心病组RR基因型频率(42.3%)明显高于对照组(31.5%),差异有统计学意义(P<0.05);而KK型频率(10.6%)显著低于对照组(20.7%),差异有统计学意义(P<0.05)。冠心病组中KK基因型携带者的三酰甘油(TG)水平(1.43±0.597)mmol/L低于RR基因型携带者(1.87±1.34)mmol/L(P<0.05),KK型基因携带者高密度脂蛋白(HDL-C)水平为(1.34±0.35)mmol/L高于RR基因型携带者(1.09±0.18)mmol/L,差异有统计学意义(P<0.05)。结论:三磷酸腺苷结合盒转运子A1基因R219K多态性与血脂水平有关,是冠心病发病的易感因素之一。

Objective： To investigate the relationship between ATP-binding cassette transporter A1（ABCA1） gene R219K polymorphism and serum lipid levels,and the risk factors for coronary heart disease（CHD）.Methods： ABCA1 gene R219K site G → A（Arg219Lys） of 227 cases of CHD and 162 cases of non-CHD were detected by polymerase chain-reaction restriction fragment length polymorphism（PCR-RFLP） technique so as to analyze the genotype frequencies,allele frequency distribution features and their correlations with lipid levels.Results： Compared with control group,the RR genotype frequency in the CHD group（42.3%） was significantly higher than that in control group（31.5%）,which was of statistical difference（P0.05）;while the KK-frequency（10.6%） was significantly lower than that of the control group（20.7%）,which was statistically different（P0.05）.The triglyceride（TG） levels（1.43±0.597）mmol/L of the KK genotype carrier in CHD group was lower than the RR genotype carrier（1.87±1.34）mmol/L（P0.05）;High-density lipoprotein（HDL-C） levels carried by KK genotype（1.34±0.35）mmol/L was higher than that of the RR genotype（1.09±0.18）mmol/L,which was of statistical difference（P0.05）.Conclusion： The ABCA1 gene R219K polymorphism is related to serum lipid levels,which is one of the predisposing factors causing the onset of coronary heart disease.