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

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(P0.05).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(P0.01).Moreover,the general linear model showed that R1587K polymorphism led to 2.3% of the variation in HDL-C levels in women studied(P0.01).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.