Distribution and phenotypic expression of mineralocorticoid receptor and CYP11B2 T-344C polymorphisms in a Taiwanese hypertensive population

Numerous genetic loci are involved in the pathogenesis of hypertension, including genes related to aldosterone synthesis and mineralocorticoid receptor. The aim of this study was to evaluate the genotypic distribution of mineralocorticoid receptor and cytochrome P450 11B2 (CYP11B2) T-344C polymorphisms and their relationship with hypertension and cardiac remodeling in a Taiwanese population. Genomic DNA extracted from peripheral blood samples was subjected to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis for the mineralocorticoid receptor loci, G3514C and A4582C, and CYP11B2 T-344C. The genetic distribution and the association with echocardiographic measurements were analyzed. A total of 192 normotensive and 514 hypertensive Taiwanese patients were recruited. Statistical analysis revealed no significant differences in the genetic distribution of mineralocorticoid receptor and CYP11B2 polymorphisms between normotensive and hypertensive patients, nor were there differences in the echocardiographic measurements. Female patients with the T/T genotype of CYP11B2 were more likely to have hypertension (p = 0.045), compared with the T/C or C/C genotypes. In addition, female hypertensive patients carrying C-allele had significantly greater left ventricular mass (p = 0.0215) and left atrial dimension (p = 0.0081). Such differences were not observed in the male patients. Our data suggest that CYP11B2 T-344C polymorphism affects left ventricular structures only in the female hypertensive population. This gender-difference needs to be further elucidated.