Aldosterone synthase (CYP11B2) polymorphisms and cardiovascular function.
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.
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-9063, USA. pwhite@mednet.swmed.edu
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D000483:Alleles; D017704:Baroreflex / Q000235:genetics; D006332:Cardiomegaly / Q000201:enzymology / Q000235:genetics; D002320:Cardiovascular Physiological Phenomena; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D006801:Humans; D009929:Organ Size; D011110:Polymorphism, Genetic
D019405:Cytochrome P-450 CYP11B2