A functional polymorphism in the CYP3A4 gene is associated with increased risk of coronary heart disease in the Chinese Han population.

摘要: Abstract:  CYP3A4 is a major member of the cytochrome P450 (CYP) enzymes which play crucial roles in cardiovascular diseases. Recently, novel polymorphism gene, IVS10 + 12G>A, named CYP3A4*1G (rs2242480), has been identified. The aim this study was to evaluate potential relationship between allele and susceptibility coronary heart disease (CHD). A total 628 individuals (322 unrelated patients with CHD 306 age- sex-matched healthy controls) were investigated study. Polymerase chain reaction–restriction fragment length (PCR-RFLP) used identify CYP3A4*1G. We also analysed functional significance IVS10 + 12G>A using dual-luciferase reporter assay. results showed that frequency 0.290 CYP3A4*1G/*1G genotype 0.090 CHD. had higher risk, an odds ratio (OR) 3.84 (p = 0.025; 95% CI = 1.32–12.65) after adjustment for conventional risk factors. gender-dependent difference observed. significantly female than controls (p = 0.034, OR = 3.02, CI = 1.04–8.70). Furthermore, assay indicated at transcriptional activity G allele. Our imply contributes Chinese Han population, may be useful specific molecular pathogenesis