Effect of polymorphic gene variants in the renin-angiotensinaldosterone system on parameters of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy
Background. A major sign of hypertrophic cardiomyopathy (HCMP) is LV myocardial hypertrophy. The article discusses the role of gene polymorphism in RAAS components in progression of LV myocardial hypertrophy. Results of studies focused on the relationship between gene polymorphism in RAAS components and signs of LV myocardial hypertrophy in patients with HCMP are inconsistent. This inconsistency is partially due to different gender and age composition of study groups. Aim. To establish associations between polymorphism of genes encoding RAAS components (АСЕ, AGTR1, CYP11B2, and CMA1) and EchoCG signs of LV myocardial hypertrophy considering gender, age and concomitant diseases of patients with HCMP. Materials and methods. Clinico-demographic and EchoCG data were analyzed for 275 patients with HCMP (97 females and 178 males aged 17 to 70, median age 51 for females and 44 for males) who were examined and treated at the Russian Science and Practice Center “Cardiology”. All parameters were evaluated during enrollment. Polymorphic sites of study genes were amplified using PCR followed by restriction analysis. Results. Monofactorial analysis showed that higher values of left ventricular myocardial mass (LVMM) and myocardial mass index (MMI) were associated with the ACE II gene polymorphism (p=0.07, p=0.04, respectively). Similar associations with LVMM and MMI were observed for the CMA1 AA gene polymorphism (p=0.03, p=0.04, respectively). Multifactorial analysis showed that LVMM values were significantly higher in carriers of the genotype II of ACE gene (mean percentage of increase, 10.8; 1.9-20.1; 95% CI) compared to the other genotypes. Values of MMI were significantly higher in carriers of the genotype II of the ACE gene (mean percentage of increase, 9.1; 1.0-17.6, 95% CI) and carriers of the AA genotype of CMA gene (mean percentage of increase, 7.3; 0.0-14.8; 95% CI) compared to the other genotypes. Gender and concomitant stage 2-3 AH influenced the studied EchoCG parameters. Conclusion. Genotype II of the ACE gene polymorphism and genotype AA of the CMA gene are the most unfavorable factors influencing parameters of LV myocardial hypertrophy in patients with HCMP.