title: Aldosterone synthase (CYP11B2) polymorphisms and cardiovascular function.
abstract: In addition to regulating renal sodium resorption and, thus, intravascular volume, aldosterone may have direct effects on the cardiovascular system. We previously identified a polymorphism (-344C/T) in the promoter of the aldosterone synthase (CYP11B2) gene that affects binding of the SF-1 transcription factor and thus might influence gene expression. We found that, whereas this polymorphism has inconsistent associations with levels of aldosterone secretion and blood pressure, the -344C allele is strongly associated with increased left ventricular size and decreased baroreflex sensitivity in healthy individuals. These physiological parameters are cardiovascular risk factors. Indeed, preliminary studies suggest that the -344C allele is also associated with increased risk of myocardial infarction in high risk dyslipidemic males.
authors.affiliation: Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, USA.
authors.forename: P C
authors.initials: PC
authors.lastname: White
authors.forename: A
authors.initials: A
authors.lastname: Hautanen
authors.forename: M
authors.initials: M
authors.lastname: Kupari
mesh_terms: D000328:Adult; D000450:Aldosterone / Q000378:metabolism; D000483:Alleles; D017704:Baroreflex / Q000502:physiology; D001794:Blood Pressure / Q000502:physiology; D002320:Cardiovascular Physiological Phenomena; D003327:Coronary Disease / Q000235:genetics; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D004452:Echocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic / Q000502:physiology*; D012016:Reference Values; D012907:Smoking; D016277:Ventricular Function, Left / Q000502:physiology
chemical_list: D000450:Aldosterone; D019405:Cytochrome P-450 CYP11B2