title: Association of the -344T/C aldosterone synthase gene variant with essential hypertension.
abstract: The aldosterone synthase gene (CYP11B2) is an important candidate gene region in essential hypertension. We therefore studied the association of -344T/C polymorphism of the CYP11B2 gene with the presence and severity of hypertension in a case-control study. We studied 369 individuals, of whom 213 were hypertensive patients (139 controlled hypertensive, 74 resistant hypertensive) and 156 were healthy normotensive subjects. The -344T/C polymorphism of the CYP11B2 gene was determined using polymerase chain reaction - restriction fragment length polymorphism analysis. The distribution of genotypes in normotensive controls and hypertensive subjects were: TT 25.6 vs. 31.9 %, TC 51.9 vs. 57.3 % and CC 22.4 vs. 10.8 %. The -344T/C variant was associated with hypertension. Subjects carrying the -344T allele had a greater risk of hypertension compared to those having C allele (chi(2)=5.89, p<0.05). The frequency of CC genotype was significantly lower in hypertensive patients than in normotensive controls (chi(2)=9.44, p<0.01). A stepwise logistic regression analysis confirmed these findings. We did not find an association of -344T/C variant with the resistance of hypertensive patients to combination therapy, but we observed an association of -344T/C polymorphism of aldosterone synthase gene with increased risk of hypertension. These results support a potential role of -344T/C CYP11B2 gene polymorphism in genetic predisposition to develop hypertension.
authors.affiliation: Second Medical Department - Clinical Department of Cardiology and Angiology, First Faculty of Medicine, Charles University, Prague, Czech Republic. hlubockaz@seznam.cz
authors.forename: Z
authors.initials: Z
authors.lastname: Hlubocká
authors.forename: M
authors.initials: M
authors.lastname: Jáchymová
authors.forename: S
authors.initials: S
authors.lastname: Heller
authors.forename: V
authors.initials: V
authors.lastname: Umnerová
authors.forename: V
authors.initials: V
authors.lastname: Danzig
authors.forename: V
authors.initials: V
authors.lastname: Lánská
authors.forename: K
authors.initials: K
authors.lastname: Horký
authors.forename: A
authors.initials: A
authors.lastname: Linhart
mesh_terms: D000328:Adult; D000368:Aged; D000959:Antihypertensive Agents / Q000627:therapeutic use; D001794:Blood Pressure / Q000187:drug effects / Q000235:genetics*; D016022:Case-Control Studies; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics* / Q000378:metabolism; D018153:Czech Republic; D004351:Drug Resistance / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D016015:Logistic Models; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D018570:Risk Assessment; D012307:Risk Factors; D016896:Treatment Outcome
chemical_list: D000959:Antihypertensive Agents; D019405:Cytochrome P-450 CYP11B2