The NOS 3 gene polymorphism –786T>S (rs2070744) as the risk factor of hemodynamic disorders in Northerners

Author:

Averyanova I. V.1ORCID,Bezmenova I. N.1ORCID

Affiliation:

1. Scientific Research Center “Arktika”, Far East Branch of the Russian Academy of Sciences

Abstract

Objective. This research assessed the influence of polymorphism –786T>C (rs2070744) of the NOS3 gene on the hemodynamic impairments in the Northern residents. Design and methods. One hundred and one volunteers of Magadan region, mainly Caucasians by ethnicity, underwent molecular genetic examination, and a continuous method was used to form the study sample. DNA was isolated by phenol-chloroform extraction followed by polymorphism genotyping by the polymerase chain reaction. Results. In male Northerners, the following percentage variation in the genotype frequencies by the eNOS locus (rs2070744) was found: –786ТТ — 42,57 %, –786ТС — 43,56 %, –786СС — 13,87 %. The concentration of the eNOS *C allele was 35,64 %, the ancestral eNOS *T allele occurred with the frequency of 64,36 %. The observed distribution of frequencies of alleles and genotypes corresponded to the Hardy-Weinberg equilibrium (χ2(HWE) = 0.26, p > 0.05). The presence of even one eNOS *C allele in the genotype causes a significant increase in diastolic blood pressure level. The lowest blood pressure (80,3 ± 5,9 mmHg) was found in male homozygotes by the ancestral eNOS *T allele, while the T/C heterozygotes and the C/C homozygotes showed significantly higher blood pressure (83,2 ± 7,3 and 82,9 ± 3,7 mmHg, respectively). The individuals with the C/C genotype showed lower cardiovascular adaptabilities, in particular lower indicators of stroke volume (SV, 43,6 ± 3,7 mL) and cardiac output (CO, 2836,3 ± 182,4 mL/min) with a significant increase in total peripheral vascular resistance (TPVR, 3028,3 ± 252,7 dyn2 s cm-5) compared to the T/T homozygotes (SV, 49,6 ± 7,9 mL; CO, 3393,1 ± 546,8 mL/min; TPVR, 2572,8 ± 559,4 dyn2 s cm-5). Conclusions. This study showed that the eNOS *C allele is associated with the hemodynamic disorders. These results can be used to calculate the risk of cardiovascular pathologies at younger ages, which can develop under the North extremes.

Publisher

Arterialnaya Gipertenziya

Subject

Cardiology and Cardiovascular Medicine,Internal Medicine

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