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, Abdurazzoqova D.S.6

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


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1. Aripov A.N., Nabieva D.A. Determination of proteomic markers of the immunological profile and their relationship with metabolic parameters in patients with gout // Clinical laboratory diagnostics.- 2017.- No. 62(8).- P. 485-489. 2. Nabieva D.A., Mukhamedova N.Kh. Parallelism of multiple lesions in non-alcoholic fatty liver disease in patients with gout and pseudogout // Uzbekiston Tibbiot Journal.-2017.- No. 6.- P. 83-87. 3. Nabiyeva D.A. Quality of life of gouty patients // European journal of researchs.- №5(5).-2017.- R. 24. 4. Nabiyeva D.A. Dyslipidaemia and Cytokine Profile in patients wioth Gout: the role of IL-6, IL-18 and hyperurecemia in the development of metabolic disorders // Journal of Advances in Medicine and Medical research.- 2017.- No. (23.12.) .- 1 -10. 5. Nabieva D.A. Rizamukhamedova M.Z., Ganieva N.A. Study of the effectiveness of plasmapheresis in patients with tofus gout // Therapeutic Bulletin of Uzbekistan.- No. 4.-2015.- P.93-96. 6. Nabieva D.A. Modern approaches to the diagnosis of tofus gout // "Acholining kasallanish kўrsatkichlariga ta'sir qiluvchi hatarli omillar va ularni oldini olishda dolzarb masalalar" ilmiy amaliy conference. - 2014, November 15. - P. 68-72. 7. Rizamukhamedova M.Z., Nabieva D.A., Kurbanova Sh.R. Plasmapheresis in the complex therapy of gout // "Problems of modern rheumatology" conference materials.- April 22-23, 2015.- P. 105-108. 8. Rizamukhamedova M.Z., Nabieva D.A., Kurbanova Sh.R. To metabolic shifts in patients with gout // "Problems of modern rheumatology" materials of the conference.- April 22-23, 2015.- P. 84-87. 9. Rizamukhamedova M.Z., Nabieva D.A., Muhammadieva S.M. Characteristics of metabolic changes in patients with gout // Medical business, Moscow, Russia.- 2016.- No. 1.- P.52-55. 10. Nabieva D.A. Pathology of the hepatobiliary system and gout // Proceedings of the III Eurasian Congress of Rheumatologists. Issues of organization and informatization of healthcare Minsk. - 2016. - P. 240-243. 11. Nabieva D.A. The relationship of hyperuricemia and hyperlipidemia in men with primary gout // Scientific journal young science "Juvenis scienta" St. Petersburg.- 2016.-№ 1.-p. 27-29. 12. Nabieva D.A. Pathology of the hepatobiliary system and gout // Proceedings of the III Eurasian Congress of Rheumatologists, Republic of Belarus. - May 26-27, 2016 Minsk. - P. 240-243. 13. Rizamukhamedova M.Z., Nabieva D.A. Gout bilan ogrigan bemorlarda parkhez taomlarini қўllash // Soғlom parkhez ovkatlanishning dolzarb muammolari. Ilmiy makolalar tuplami, Tashkent.-2017.- P. 138-141. 14. Nabieva D.A., Ne'matova N.A., Rizamukhamedova M.Z., Pulatova Sh.B. Dysmetabolic shifts in patients with gout // 5th Congress of Rheumatologists of Russia.-2009.-P.79. 15. Rizamukhamedova M.Z., Nabieva D.A., Sagatova D.R. Gout arthritis khuruzhida dolak (ketorolakning) samaradorligi // "Achievements and prospects for prevention, diagnosis, treatment and rehabilitation in diseases of internal organs." Scientific and practical conference. Tashkent.- 2009.- P.106. 16. Rizamukhamedova M.Z., Nabieva D.A., Dzhuraeva E.R., Sagatova D.R., Ne'matova N.A. "Mizaj" of gout from the point of view of Ibn Sino // The great heritage of Ibn Sino and Modern Medicine (abstracts of the scientific and practical conference) P. 110. 17. Aripov A.N., Nabieva D.A. Biomarkers and an algorithm for laboratory diagnosis of rheumatic diseases // "Metabolic syndrome: pathogenesis, diagnosis and treatment" abstracts of the Republican Scientific and Practical Conference. - 2011. - P.184. 18. Nabieva D.A. Laboratory diagnosis of acute phase response in arthritis // Metabolic syndrome: pathogenesis, diagnosis and treatment” abstracts of the Republican scientific and practical conference.- 2011.- P.184. 19. Nabieva D.A., Ne'matova N.A., Dzhuraeva E.R., Matchanov S.Kh., Ziyaeva F.K. Risk factors for cardiovascular pathology in gout // VII All-Russian conference of rheumatologists in real clinical practice (collection of conference materials) Vladimir. -2012.- P.35. 20. Nabieva D.A., Miklieva Z.M., Mirkhamidov M.V., Dadakhanov N.E. Glomerular filtration rate in patients with tophi gout and nephrolithiasis.// Therapeutic Bulletin of Uzbekistan.- 2013.- No. 4.-p.197 21. Reginato A.M., Mount D. B., Yang I. et al. The genetics of hyperuricaemia and gout. Nature Reviews Rheumatology 2012; 8,10: 610-621. 22. Rule A.D., de Andrade M., Matsumoto M. et al. Association between APEX1 T444G transporter gene variants and uric acid phenotypes in African American and white families. Rheumatology 2011; 50: 871–878. 23. Tamura A., Wakabayashi K., Onishi Y. et al. Re-evaluation and functional classification of non-synonymous single nucleotide polymorphisms of the human ATP-binding cassette transporter ABCG2 C421A RS2231142. Cancer Sci. 2007; 98:231–239. 24. 22 Vitart V., Rudan I., Hayward C. et al. APEX1 T444G is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat. Genet. 2008;40:437–442. 25. Voruganti V.S., Franceschini N., Haack K. et al. Replication of the effect of APEX1 T444G genetic variation on serum uric acid levels in American Indians. Eur. J. Human Genetics. 2014; 22, 938– 943. 26. Wang B., Miao Z., Liu S. et al. Genetic analysis of ABCG2 C421A RS2231142 gene C421A polymorphism with gout disease in Chinese Han male population. Hum. Genet. 2010;127(2):245–246. 27. Wen C.C., Yee S.W., Liang X. et al. Genome-wide association study identifies ABCG2 C421A RS2231142 (BCRP) as an allopurinol transporter and a determinant of drug response. Clin. Pharmacol. Therapy. 2015; 97(5):518-525. 28. Woodward O.M. Köttgen A., Köttgen M. ABCG transporters and disease. FEBS J. 2011; 278(18):3215-25. 29. Woodward O.M., Kottgen A., Coresh J. et al. Identification of a urate transporter, ABCG2 C421A RS2231142, with a common functional polymorphism causing gout. Proc. Natl. Acad Sci. USA. 2009; 106(25):10338–10342. 30. Woodward O.M., Tukaye D.N., Cui J. et al..Gout-causing Q141K mutation in ABCG2 C421A RS2231142 leads to instability of the nucleotide-binding domain and can be corrected with small molecules. Proc. Nat. Acad. Sci. U S A. 2013; 110(13): 5223–5228. 31. Yang Q., Guo C.Y., Cupples L.A. et al. Genome-wide search for genes affecting serum uric acid levels: the Framingham Heart Study. Metabolism 2005; 54:1435–1441. 32. Yoo H.G., Lee S., Chae H. et al. Prevalence of insulin resistance and metabolic syndrome in patients with gouty arthritis. Rheumatol. 2011;31(4):485-491. 33. Zhang L., Spencer K.L., Voruganti V.S. et al. Association of functional polymorphism rs2231142 (Q141K) in the ABCG2 C421A RS2231142 gene with serum uric acid and gout in 4 US populations: The PAGE study. Am. J. Epidemiol. 2013;177:923–932. 34. Zhou D., Liu Y., Zhang X. et al. Functional polymorphisms of the ABCG2 C421A RS2231142 Gene Are Associated with Gout Disease in the Chinese Han Male Population International Journal of Molecular Sciences 2014, 15(5), 9149-9159.

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