ABCA1基因变异与血浆高密度脂蛋白胆固醇水平的关系

Relationship between ATP-binding transporter A1 gene variation and plasma high density lipoprotein cholesterol level

目的探讨腺苷三磷酸结合盒转运体A1(ATP-binding transporter A1,ABCA1)基因多态性与汉族人群血浆高密度脂蛋白胆固醇(high-density lipoprotein cholesterol,HDL-C)水平的关系。方法采用聚合酶链反应-限制性片段长度多态性分析技术检测376例无血缘关系的正常汉族人ABCA1基因M883I、R1587K和R219K多态性。结果研究人群中KK1587基因型者HDL-C水平明显低于RR1587和RK1587基因型者(P<0.05)。按性别分层后,仅女性KK1587基因型者HDL-C水平低于RR1587和RK1587基因型者(P<0.01)。一般线性模型分析显示,R1587K多态对女性个体HDL-C水平变异的贡献度为2.3%(P<0.01)。结论ABCA1基因M883I和R219K多态与汉族人群HDL-C水平无关,但K1587等位基因以隐性作用方式与女性HDL-C水平降低有关。

Objective To investigate the association between the ATP-binding cassette transporter A1 （ABCA1） gene polymorphisms and plasma high density lipoprotein cholesterol （HDL-C） level in Chinese general population. Methods M883I, R1587K and R219K polymorphisms of the ABCA1 gene were detected by polymerase chain reaction-restriction fragment length polymorphism technique in 376 unrelated Chinese healthy subjects. Results In the study population, the subjects with the KK1587 genotype had markedly lower HDL- C levels than those with RR1587 and RK1587 genotypes （P 〈 0.05）. When subgroups were divided by gender, the KK1587 genotype was associated with lower HDL-C levels compared with the RR1587 and RK1587 genotypes only in women （P 〈0.01 ）. Moreover, the general linear model showed that R1587K polymorphism led to 2.3% of the variation in HDL-C levels in women studied （P 〈 0. 01 ）. Conclusion M883I and R219K polymorphisms of the ABCA1 gene are not correlated with HDL-C level in Chinese population, but the recessive K1587 allele may be involved in the decreased level of HDL-C in women.