DOI: 10.18413/2658-6533-2023-9-1-0-2

**Polymorphic loci of AC026703.1 and HFE genes are associated with severe hypertension**

Background: Hypertension (HT) is characterized by high blood pressure (BP) and is one of the most common diseases in the world. At the moment, there is information in the literature about 1.5 thousand single-nucleotide polymorphic loci (SNP) associated with HP and BP according to genome – wide studies (GWAS). At the same time, replicative studies of GWAS significant genes in various populations, including Russian ones, are necessary. The aim of the study: To study the relationship of GWAS-significant polymorphic loci for HP with the stages of the disease. Materials and methods: For this study, two samples of patients with HT were formed: patients with stages 1-2 (n=384) and patients with stage 3 HT (n=555), and a control group of 466 people. For the experimental study, ten polymorphic loci of candidate genes associated with the development of HT were selected according to the data of GWAS conducted earlier. Associations were studied by the logistic regression method with a p_perm level <0.05. Results: The association of two GWAS significant candidate genes AC026703.1 (rs1173771) and HFE (rs1799945) with the risk of severe HT formation (stage 3 of the disease) was revealed. Allelic variant A rs1173771 (G/A) AC026703.1 has a protective value for the severe course of the disease (OR_dom=0.63 and 95%CI_dom 0.41-0.98 p_perm=0.048). The minor genotype GG rs1799945 (C/G) HFE significantly (more than 3 times) increases the risk of developing stage 3 HT (OR_rec=3.25 and 95%CI_rec 1.25-8.42 p_perm=0.017). Associations of GWAS significant of polymorphic loci for HT with the development of stages 1-2 of the disease have not been established. Conclusion: Polymorphisms rs1799945 of the HFE gene (OR=3.25) and rs1173771 of the AC026703.1 gene (OR=0.63) are associated with the risk of developing stage 3 HT.

Keywords: hypertension, polymorphism, association, GWAS.

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Ivanova TA. Polymorphic loci of AC026703.1 and HFE genes are associated with severe hypertension. Research Results in Biomedicine. 2023;9(1):22-38 Russian. DOI: 10.18413/2658-6533-2023-9-1-0-2

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