Abstract: Objective：To investigate the frequency of variant at-14bp sites of ABCA1 gene and relations to Coronary heart disease and serum lipid levels in Chinese population. Methods：The restriction fragment polymorphisms(RFLP) at Bme13901 sites at -14bp of ABCA1 gene were detected using PCR in 228 Coronary heart disease patients and 200 healthy subjects from a population of Chinese in Tianjin. Results: Both in Coronary heart disease group and Control group, CT genotype was the most frequent one, but no differences were found in two groups. No differences were found in the frequencies of rare T allele for –14bp. In –14bp site, subjects with CT/TT genotype had a lower serum mean concentration of HDL compared with subjects with the genotype CC. Conclusions：These results suggest that the genotypes at -14bp of ABCA1 gene were associated closely with the plasma levels of HDL-c. The HDL-C levels of T allele carriers were remarkably lower. However, there was no significant association of the ABCA1 -14bp polymorphism and the susceptibility to CAD.

Key words: ATP binding cassette transporter A1, polymorphism, coronary disease, hyperlipidemia