[Correlation analysis and identification of G421C in regulatory region of CYP4F2 gene with essential hypertension].
OBJECTIVE
To investigate the correlation between G421C polymorphism in the regulatory region of CYP4F2 gene and essential hypertension and its molecular mechanism.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Liu
Hong
H
Department of Medical Genetics, China Medical University, Shenyang 110001, China.
Zhao
Yan-yan
YY
Gong
Wei
W
Shi
Jing-pu
JP
Fu
Ling-yu
LY
Wang
Jun
J
Li
Guang-yu
GY
Lü
Jing-yu
JY
D000328:Adult; D016022:Case-Control Studies; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D000072470:Cytochrome P450 Family 4; D005260:Female; D005787:Gene Frequency; D020570:Genes, myb / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*; D020218:Response Elements / Q000235:genetics
D003577:Cytochrome P-450 Enzyme System; D000072470:Cytochrome P450 Family 4; C117480:CYP4F2 protein, human