Association of the -344T/C aldosterone synthase gene variant with essential hypertension

Physiol Res. 2009;58(6):785-792. doi: 10.33549/physiolres.931450. Epub 2008 Dec 17.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Antihypertensive Agents / therapeutic use
  • Blood Pressure / drug effects
  • Blood Pressure / genetics*
  • Case-Control Studies
  • Cytochrome P-450 CYP11B2 / genetics*
  • Cytochrome P-450 CYP11B2 / metabolism
  • Czech Republic
  • Drug Resistance / genetics
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Hypertension / drug therapy
  • Hypertension / enzymology
  • Hypertension / genetics*
  • Hypertension / physiopathology
  • Logistic Models
  • Middle Aged
  • Phenotype
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic
  • Risk Assessment
  • Risk Factors
  • Treatment Outcome

Substances

  • Antihypertensive Agents
  • Cytochrome P-450 CYP11B2