[Association between -14 bp and ZNF polymorphisms of ABCA1 gene promoter and high density lipoprotein cholesterol level and cardiovascular disease].

Objective To investigate the association between polymorphisms at -14 bp and zinc finger protein(ZNF) sites of ATP-binding cassette transporter A1 (ABCA1)gene promotor and high density lipoprotein-cholesterol(HDL-C) level and coronary heart disease (CHD). Methods Polymorphisms of Bme13901 restriction site at -14 bp and an insertion/deletion site of ACCCC in variable number of tandem repeats-zinc finger protein(VNTR-ZNF) of ABCA1 gene were detected using PCR in 260 CHD patients and 220 healthy subjects from a Chinese population in Tianjin.Results CT genotype was most common in both groups with no differences found in between(P＞0.05).No differences were found in the frequencies of the rare T allele for -14 bp(P＞0.05).For the -14 bp site,subjects with CT/TT genotype had a lower serum mean concentration of HDL-C compared with those with the CC genotype(P＜ 0.05).Genotypic frequencies of VNTR-ZNF were 6.2％ for the inserted form,43.8％ for the deleted form and 50.0％ for the inserted/deleted form.No significant difference was found in the distribution of allele and genotype,or in the levels of HDL-C between the two groups(P＞0.05).Conclusion The genotypes at -14 bp of ABCA1 gene are associated with the plasma level of HDL-C. HDL-C levels in T allele carriers were significantly lower (P＜0.05).No association was found between variations in ABCA1 VNTR-ZNF and plasma levels of HDL-C,or between the ABCA1 -14 bp and VNTR-ZNF polymorphisms and susceptibility for CHD. Key words: ATP-binding cassette transporter A1 gene;  Genetic polymorphism;  Coronary disease;  High density lipoprotein cholesterol