2 andCMA1 genes in patients with hypertrophic cardiomyopathy

Abstract

Renin-angiotensin-aldosterone system (RAAS) gene polymorphisms ( AGT ( Т 174 М ), AGTR 1 (1166 A > С ), CMA 1 (-1903 A > G ), АСЕ ( I / D ), CYP 11 B 2 (-344 С > Т )) and the sympathetic nervous system gene polymorphisms ( ADRB 1 ( Ser 49 Gly , Arg 389 Gly ), ADRB 2 ( Arg 16 Gly , Gln 27 Glu ) were studied in 285 patients with hypertrophic cardiomyopathy (HCM) and276 controls. Gender differences in the distribution of the genotype frequency of RAAS gene polymorphisms were found. The frequency of the D allele of the ACE gene was significantly higher and the I allele was seen less in men with HCM com- pared to those of the control group. Women with HCM carrying the TT genotype CYP 11 B 2 gene and the AA genotype CMA 1 gene were significantly fewer compared to women in the control group. The impact of polymorphisms in the sympathetic nervous system on hypertrophic cardiomyopathy was independent of the patient’s sex. The frequency of the AA genotype ( Ser 49 Ser ) ADRB 1 gene was significantly higher, and the frequency of the AG genotype ( Ser 49 Gly ) was lower in patients with HCM compared to controls. The results of our study suggest that modifier genes play a key part in the HCM realization, but their significance is determined by the sex of a patient.