Correlation analysis and identification of G421C in regulatory region of CYP4F2 gene with essential hypertension / 中国医学科学院学报

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the correlation between G421C polymorphism in the regulatory region of CYP4F2 gene and essential hypertension and its molecular mechanism.</p><p><b>METHODS</b>Totally 196 hypertensive patients (hypertension group) and 219 normotensive subjects (control group) were genotyped by polymerase chain reaction-restriction fragment length polymorphism. The promoter activity with different alleles was evaluated by reporter assay. A Myb responsive element was identified using gel retardation assay.</p><p><b>RESULTS</b>Significant differences were found in distribution of genotype and allele frequency of G421C between hypertension group and control group (P < 0.05), and homozygous GG genotype was independently associated with hypertension after adjustment for age, gender, body mass index, and other risk factors (odds ratios 1.87, 95% CI 1.11-3.13, P < 0.05). 421G reporter construct showed decreased promoter activity compared with 421C reporter construct. 421G existed in Myb responsive element, whereas 421C damaged this motif.</p><p><b>CONCLUSION</b>G421C polymorphism in the regulatory region of CYP4F2 gene is correlated with essential hypertension. 421G allele inhibits transcription by binding affinity of Myb responsive element.</p>