Association between aldosterone synthase (CYP11B2) gene polymorphism and left ventricular volume in patients with dilated cardiomyopathy

Aldosterone has an effect on the genesis and progression of cardiac remodelling. Aldosterone biosynthesis is regulated by a key enzyme, aldosterone synthase (CYP11B2). In humans, several frequent polymorphisms have been described in the promoter of this CYP11B2 gene.1 In particular, T-344C polymorphism involves a T/C substitution in a putative binding site for steroidogenic transcription factor SF-1, and a fourfold increase in binding of SF-1 to the -344C allele has been shown in vitro.1 We compared retrospectively the left ventricular (LV) characteristics, haemodynamic parameters, and biochemical data with the CYP11B2 genotype in patients with idiopathic dilated cardiomyopathy (DCM). We further conducted a case–control study to elucidate whether this polymorphism represents a susceptibility gene to DCM. Two hundred and one DCM patients and 183 age and sex matched control subjects were enrolled in the study. All the DCM patients underwent left ventriculography (LVG) and coronary angiography to exclude coronary artery disease and segmental LV wall motion abnormality. Consecutive patients were recruited from the inpatients of Kobe University Hospital (Kobe, Hyogo) from January 1995 to June 2001 or Himeji Cardiovascular Center (Himeji, Hyogo) from January 1995 to February 1999. Healthy control subjects were recruited from company employees (Akashi, Hyogo) and completed a series of questionnaires, physical examinations, routine laboratory tests, chest radiographs, and ECGs. Control subjects with cardiomegaly, ECG abnormalities, and documented heart diseases were excluded from this study. All subjects enrolled were Japanese and written informed consent was obtained. The study design was approved by …