Open AccessAssociation of the -344T/C aldosterone synthase gene variant with essential hypertension
Author(s) -
Zuzana Hlubocká,
M Jáchymová,
Samuel Heller,
V. Umnerová,
Vilém Danzig,
Věra Lánská,
K Horký,
Aleš Linhart
Publication year - 2009
Publication title -
physiological research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.647
H-Index - 70
eISSN - 1802-9973
pISSN - 0862-8408
DOI - 10.33549/physiolres.931450
Subject(s) - aldosterone synthase , medicine , essential hypertension , endocrinology , allele , genotype , aldosterone , polymorphism (computer science) , biology , gene , blood pressure , genetics , renin–angiotensin system
The aldosterone synthase gene (CYP11B2) is an importantcandidate gene region in essential hypertension. We thereforestudied the association of -344T/C polymorphism of the CYP11B2gene with the presence and severity of hypertension ina case-control study. We studied 369 individuals, of whom 213were hypertensive patients (139 controlled hypertensive, 74resistant hypertensive) and 156 were healthy normotensivesubjects. The -344T/C polymorphism of the CYP11B2 gene wasdetermined using polymerase chain reaction - restrictionfragment length polymorphism analysis. The distribution ofgenotypes in normotensive controls and hypertensive subjectswere: 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 ofhypertension compared to those having C allele (χ2=5.89, p<0.05). The frequency of CC genotype was significantly lower inhypertensive patients than in normotensive controls (χ2=9.44, p<0.01). A stepwise logistic regression analysis confirmed thesefindings. We did not find an association of -344T/C variant withthe resistance of hypertensive patients to combination therapy,but we observed an association of -344T/C polymorphism ofaldosterone synthase gene with increased risk of hypertension.These results support a potential role of -344T/C CYP11B2 genepolymorphism in genetic predisposition to develop hypertension.