Combined effects of ACE (I/D) and eNOS (894T>G) genes polymorphism in patients with arterial hypertension in the realization of molecular mechanisms of left ventricular hypertrophy

Aim: To determine the frequency of alleles and genotypes of insertion-deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) (dbSNP id: rs4646994) and a missense mutation (894T<G polymorphism) of the endothelial NO-synthase (eNOS) gene (dbSNP id: rs1799983 ) in patients with essential arterial hypertension (EAH) residents of Western Ukraine (Bukovina), depending on the severity of EAH and their association with the frequency and patterns of left ventricular hypertrophy (LVH). Materials and methods: 120 patients with EAH I-III stages (48.3% - women, 51.7% - men, average age 52.9±9.24 years) and 40 practically healthy persons were observed. Alleles of polymorphic locus was studied by polymerase chain reaction (PCR). Structural and functional changes of the myocardium and LVH models - by echocardiography, ECG. The results analyzed according to the European guidelines ESC / ESH (2009). Results and discussions: One-third of patients with EAH (35.8%) have a mutation in the coding regions of the ACE gene (I/D, intron 16, 17q23, dbSNP id: rs4646994) or eNOS (894T0.05) and “good” patterns of left ventricular geometric structure in 2.53 times (OR=7.87, p=0.04). Conclusions: ID/TG and DD/TG combination of genotypes of the ACE gene (I/D) and eNOS (893T>G) is an additional independent predictor of target-organ damage, in particular the appearance of left ventricular hypertrophy, and the severity of EAH