Association of <i>CSK, MTHFR, ACE, ADRA2B, TCF7L2</i> gene polymorphisms with dyslipidemia among indigenous and non-indigenous people of Khanty-Mansy Autonomous Okrug – Yugra

Abstract

The increase in cardiovascular diseases and their complications, diabetes mellitus and metabolic syndrome determines the relevance of early diagnosis and prevention of lipid metabolism disorders by identifying and studying genetic markers of predisposition to dyslipidemia in various populations depending on gender, age and ethnicity.Aim of the study was to investigate the associations of candidate genes CSK, MTHFR, ACE, ADRA2B and TCF7L2 with dyslipidemia in the young indigenous and non-indigenous population living in the Khanty-Mansy autonomous Okrug – Ugra.Material and methods. 863 young people aged 18–44 years were examined, clinical population included nonindigenous and indigenous men and women with metabolic syndrome (n = 344), the comparison group included non-indigenous and indigenous men and women without metabolic syndrome (n = 519). A study of the lipid profile and molecular genetic study was carried out using the polymerase chain reaction method for single nucleotide polymorphisms (SNPs): rs1378942 of the gene CSK, rs1801133 (C677T) of the gene MTHFR, gene ADRA2B, rs7903146 of the gene TCF7L2, rs1799752 of the gene ACE.Results. A high frequency of hypercholesterolemia (79.0 %) and hypertriglyceridemia (65.8 %) was found in the examined men and women. Statistically significant differences were established in the frequency of dyslipidemia in patients with metabolic syndrome by ethnicity and gender (p < 0.001). In the general cohort of men with metabolic syndrome hypercholesterolemia is associated with the TT genotype of SNP rs1801133 (C677T) of the gene MTHFR (p = 0.039), in the women – with the DD genotype of the gene ADRA2B (p = 0.010). In indigenous men of the clinical group an association of hypercholesterolemia with the minor T allele of the gene MTHFR (p = 0.005), of hypertriglyceridemia – with the minor T allele of the gene MTHFR (p = 0.031) and the T allele of the gene TCF7L2 (p = 0.031) was revealed. Among indigenous women of the clinical group hypercholesterolemia is associated with carriage of the minor T allele of the gene CSK (p < 0.001) and hypertriglyceridemia – with the D allele of the gene ADRA2B (p = 0.046).Conclusions. Carriage of minor alleles T of the MTHFR gene and D of the ADRA2B gene is associated with hypercholesterolemia among the examined young people and is statistically significantly higher in the group of patients with metabolic syndrome, as well as among indigenous residents of the KhantyMansiysk Autonomous Okrug – Ugra.