Overview

Original Research

FEATURES OF THE CLINICAL COURSE AND EFFICIENCY OF HYPOURICEMIC THERAPY OF GOUT IN FEMALE DEPENDING ON GENE POLYMORPHISM

NABIEVA D.A. 1, TASHPULATOVA M.M. 2, DJURAYEVA E.R. 3, ZIYAYEVA F.K. 4, MATCHANOV S.X. 5, and ABDURAZZOQOVA D.S. 6.

Vol 18, No 04 ( 2023 )   |  DOI: 10.17605/OSF.IO/65H2E   |   Author Affiliation: DSc, professor of Department of faculty and hospital therapy №1 with course of professional pathology of Tashkent Medical Academy of Uzbekistan 1; PhD, DSc student of Department of faculty and hospital therapy №1 with course of professional pathology of Tashkent Medical Academy of Uzbekistan 2; PhD, associate professor of Department of faculty and hospital therapy №1 with course of professional pathology of Tashkent Medical Academy of Uzbekistan 3,5; Senior lecturer of Department of faculty and hospital therapy №1 with course of professional pathology of Tashkent Medical Academy of Uzbekistan 4; PhD, assistant of Department of internal disease №2 with endocrinology of Tashkent Medical Academy of Uzbekistan 6.   |   Licensing: CC 4.0   |   Pg no: 671-680   |   Published on: 17-04-2023

Abstract

The article presents modern data on the influence of the most common polymorphisms APEX1 T444G and ABCG2 C421A RS2231142 of genes encoding proteins that are involved in the renal urate transport system and, thus, associated with the level of uric acid or gout. Characterization of polymorphisms APEX1 T444G and ABCG2 C421A RS2231142 of genes: V253I, Q126X, Q141K was carried out. It was determined that the GCA and GTC haplotypes of the Q126X and Q141K polymorphisms can be predictors of gout. The interrelation of APEX1 T444G and ABCG2 C421A RS2231142 gene polymorphisms with the presence of hyperuricemia depending on gender, components of metabolic syndrome, and response to allopurinol was analyzed. Most genes associated with MK or gout in a genome-wide association study encode proteins that are involved in the renal urate transport system, for example, APEX1 T444G (solute carrier family 2, member 9) and ABCG2 C421A RS2231142 (ATP-binding cassette, family G) are well-known genes for urate transporters responsible for their reabsorption and excretion [13, 14, 27]. Thus, the determination of polymorphism - APEX1 T444G and ABCG2 C421A RS2231142 genes can help in diagnosing the risk of developing gout and optimizing the schemes of uricosuric therapy in patients with refractory gout.

Keywords

hyperuricaemia, gout, ABCG2 C421A RS2231142, APEX1 T444G, gene polymorphism