POLYMORPHIC VARIANTS OF GENES CODING SYMPATHOADRENAL SYSTEM INFLUENCE ON PHENOTYPE OF PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY

Abstract

Aim. To reveal the associations of polymorphic genes variants coding the proteins of sympathoadrenal system (ADRB1 and ADRB2) with clinical phenotype of the disease including age and gender of patients with HCMP.Material and methods. The analysis of clinical-demographic and instrumental data of 275 patients with the diagnosis of HCMP (97 women and 178 men, age 17 to 70 y.o., median age 51 y. and 44 y., resp.) was done. All parameters were assessed at the moment of the patients inclusion. Amplification of polymorphic area of the gene was done by PCR method with consequent restriction analysis.Results. Monofactor analysis revealed that atrial fibrillation (AF) is associated with polymorphism of Arg389Gly gene АDRB1 (p=0,028). Heart failure of the higher FC II-III showed tendency to association with polymorphism Arg389Gly gene АDRB1 (p=0,060). Multifactorial analysis showed that the presence of nonsustained ventricular tachycardia episodes (NVT) more often associated with the patients — carriers of heterozygous GC gene АDRB2 (polymorphism Gln27Glu) (OR 1,76; 1,023,06; 95% CI). AF was more rare in the carriers of heterozygous genotype of GC gene АDRB1 (polymorphism Arg389Gly) (OR 0,39 (0,17-0,82; 95% CI) comparing to the normal genotypes. Heart failure of higher FC II-III more often was found in patients — carriers of GC gene АDRB1 (polymorphism Gln27Glu) (OR 4,31; 1,0829,03; 95% CI).Conclusion. Genotype GC of polymorphism gene АDRB2 (polymorphism Gln27Glu) is the most adverse factor that influence such clinical presentations of HCMP as the higher functional class of heart failure and development of life threatening arrhythmias.

Keywords

• hypertrophic cardiomyopathy
• sympathetic system
• gene polymorphism