Polymorphism of genes involved in the regulation of blood pressure in elderly residents of the Arkhangelsk region

BACKGROUND: Living in the northern climate is associated with increased cardiovascular stress, which highlights the necessity for the study of candidate genes associated with the risk of cardiovascular diseases in both the native population and newcomers. Polymorphic loci of the renin-angiotensin system, NO-synthase, and endothelin-1 system genes have been identified as contributors to cardiovascular dysfunction and age-related blood pressure shifts. It is therefore crucial to assess the genetic polymorphism in the elderly population.

AIM: To compare frequencies of gene alleles and genotypes involved in blood pressure regulation, including angiotensinogen AGT (rs699 and rs4762), angiotensin 2 type 1 receptor AGTR1 (rs5186), angiotensin converting enzyme ACE (rs4646994), endothelial NO synthase NOS3 and endothelin-1 EDN1 (rs5370) genes, in the native and non-native elderly population of the Arkhangelsk region.

MATERIALS AND METHODS: A cross-sectional study was conducted in a random sample of Arkhangelsk residents between the ages of 60 and 74 years (N=604, with 36.4% of males). The molecular genetic analysis was conducted to determine the alleles and genotypes of six genes that are involved in blood pressure regulation. The Stata 18.0 software was used to assess the deviations of empirical genotype distributions from the predicted Hardy–Weinberg equilibrium and to compare the empirical distributions between the study groups.

RESULTS: Alleles associated with the risk of cardiovascular diseases were minor in the study population. The genotype frequency distributions for the analyzed genetic variants were consistent with the Hardy–Weinberg principle, with the exception of the T704C variant of the AGT gene (rs699) in the native participants. The allele and genotype frequency distributions in the study sample were found to be similar to those reported worldwide and in European Russia. One exception was AGTR1 gene A1166C frequencies, with their 95% confidence intervals falling below the global level for both native and non-native elderly residents of the Arkhangelsk region. This may suggest that this allele is a selection variant associated with adaptation to the climate of the northern regions.

CONCLUSION: The genetic polymorphism in blood pressure regulation was found to be similar between the native and non-native populations of the Arkhangelsk region. However, the AGTR1 gene A1166C frequency among the native population and newcomers was found to be lower than that observed globally.