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

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.

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

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(P<0.05);while the KK-frequency(10.6%) was significantly lower than that of the control group(20.7%),which was statistically different(P<0.05).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(P<0.05);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(P<0.05).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.