Preview

Complex Issues of Cardiovascular Diseases

Advanced search

ABCG2 GENE POLYMORPHISM IN PATIENTS WITH GOUT IN ZABAIKALSKY KRAI

https://doi.org/10.17802/2306-1278-2019-8-2-77-86

Abstract

Aim. To study the frequency distribution of alleles and genotypes of the C421A locus (rs2231142, Q141K) of the ABCG2 gene in patients with gout and to evaluate their association with the risk of the disease development.

Methods. 80 patients (69 men and 11 women) with gout (mean age 54.8±12.4 years) were examined. Gout was diagnosed according to the ACR/EULAR classification criteria, 2015. The material for the study was DNA isolated from leukocytes of the whole peripheral blood. All patients were genotyped to detect polymorphism of the C421A locus (rs2231142, Q141K) of the ABCG2 gene. Statistical data processing was performed using Statistica 10.0 statistical software package.

Results. The results of the study of the C421A polymorphism (rs2231142, Q141K) of the ABCG2 gene demonstrated a high frequency of mutant A (χ2 = 5.58, p = 0.018, OR = 3.5, CI95% = 1.16–10.52) genotypes C/A (χ2 = 5.03, p = 0.024, OR = 3.5, CI95% = 1.11–10.98) among patients with gout compared with the control group. This fact indicates the significance of the ABCG2 gene rs2231142 locus in the development of gout and allows us to consider the carriage of the minor (A) allele and the C/A genotype as a molecular genetic factor in the development of the disease. The carriage of the wild-type allele (C) and the C/C genotype has a protective character, reducing the risk of developing the disease by 3.5 times.

Conclusion. ABCG2 C421A (rs2231142, Q141K) is associated with a high risk of developing gout among population of Zabaikalsky Krai. ABCG2 gene polymorphism can be considered as a genetic predictor of a higher risk of developing gout.

About the Authors

N. N. Kushnarenko
Chita State Medical Academy
Russian Federation

PhD, Associate Professor, Chairperson of the Department of Internal Diseases at the Pediatric and Dental Faculties,

39a, Gorkogo St., Chita,  672090



M. Yu. Mishko
Федеральное государственное бюджетное образовательное учреждение высшего образования Читинская государственная медицинская академия
Russian Federation

PhD student at the Department of Internal Medicine of Pediatric and Dental Faculties, 

39a, Gorkogo St., Chita,  672090



T. A. Medvedeva
Федеральное государственное бюджетное образовательное учреждение высшего образования Читинская государственная медицинская академия
Russian Federation

assistant at the Department of Internal Medicine of Pediatric and Dental Faculties,

39a, Gorkogo St., Chita,  672090



Yu. A. Vitkovsky
Федеральное государственное бюджетное образовательное учреждение высшего образования Читинская государственная медицинская академия
Russian Federation

PhD, Professor, Chairman of the Department of Normal Physiology,

39a, Gorkogo St., Chita,  672090



References

1. Atakhanova L.E., Tsurko V.V., Buleeva I.M., Boyko I.N., Zheleznov S.P., Ivanova T.B., Gout: from etiology and pathogenesis to diagnosis and efficient pharmacotherapy. Modern Rheumatology Journal 2007; 1(1): 13-18. (In Russian). doi: https://doi.org/10.14412/1996-7012-2007-433.

2. Titov V.N., Dmitriev V.A., Gushchina O.V., Oshchepkova E.V., YAshin A.YA. Fiziko-himicheskaya aktivnost' mochevoj kisloty. Giperurikemiya – narushenie biologicheskih funkcij ehndoehkologii i adaptacii, biologicheskih reakcij ehkskrecii, vospaleniya i gidrodinamicheskogo arterial'nogo davleniya. Uspekhi sovremennoj biologii 2011; 131(5): 483-502. (In Russian).

3. Roddy E., Doherty M. Epidemiology of gout. Arthritis Res Ther. 2010; 12(6): 223. doi: http://dx.doi. org/10.1186%2Far3199.

4. Kramer H.M., Curhan G. The association between gout and nephrolithiasis: the National Health and Nutrition Examination Survey III, 1988–1994. Am J Kidney Dis. 2002; 40(1): 37-42. doi: http://dx.doi.org/10.1053%2Fajkd.2002.33911.

5. Richette P., Doherty M., Pascual E., Barskova V., Becce F., Castañeda-Sanabria J. et al. 2016 updated EULAR evidence-based recommendations for the management of gout. Ann Rheum Dis. 2017; 76 (1): 29-42. doi: 10.1136/ annrheumdis-2016-209707.

6. Denisov I.S., Eliseev M.S., Barskova V.G. Gout outcomes. A review of literature. Part 1. Gout: Epidemiology, risk factors, course of the disease with the development of chronic tophus form. Rheumatology Science and Practice. 2013; 51(5): 569573. (In Russian). doi: http://dx.doi.org/10.14412/1995-44842013-1550.

7. Kushnarenko N.N., Medvedeva T.A., Govorin A.V., Mishko M.Y. The role of flatty acid contents of erythrocytes membranes in cardiohemodynamics disorder in gout patients with insulin resistance syndrome. Russian Journal of Cardiology. 2018; (5): 49-55. (In Russian). doi: https://doi. org/10.15829/1560-4071-2018-5-49-55.

8. Nasonova V.A., Barskova V.G. Early diagnostic and treatment of gout – is scientifically based reguirements for improvement of labour and living prognosis of patients. Nauchno-prakticheskaya revmatologiya. 2004; (1): 5–7. (In Russian).

9. Nasonova V.A., Yeliseyev M.S., Barskova V.G. Impact of age on the frequency and magnitude of the signs of metabolic syndrome in patients with gout. Modern Rheumatology Journal. 2007; 1(1): 31-36. (In Russian). doi: https://doi. org/10.14412/1996-7012-2007-436.

10. Dalbeth N., Stamp L.K., Merriman T.R. The genetics of gout: towards personalised medicine? BMC Med. 2017; 15(1): 108. doi: 10.1186/s12916-017-0878-5.

11. Merriman T.R. An update on the genetic architecture of hyperuricemia and gout. Arthritis Res Ther. 2015; 17: 98. doi: 10.1186/s13075-015-0609-2.

12. Chen C.J., Tseng C.C., Yen J.H., Chang J.G., Chou W.C., Chu H.W., Chang S.J., Liao W.T. ABCG2 contributes to the development of gout and hyperuricemia in a genomewide association study. Sci Rep. 2018; 8(1): 3137. doi: 10.1038/ s41598-018-21425-7.

13. Wen C.C., Yee S.W., Liang X., Hoffmann T.J., Kvale M.N., Banda Y. et al. Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. Clin Pharmacol Therapy. 2015; 97(5): 518525. doi: 10.1002/cpt.89.

14. Cleophas M.C., Joosten L.A., Stamp L.K., Dalbeth N., Woodward O.M., Merriman T.R. ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches. Pharmgenomics Pers Med. 2017; 10:129-142. doi: 10.2147/PGPM.S105854.

15. Köttgen A., Albrecht E., Teumer A., Vitart V., Krumsiek J., Hundertmark C. et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013; 45: 45-154. doi: 10.1038/ng.2500.

16. Fadeeva A.A., Pristupa L.N., Pogorelova O.S., Kirichenko N.N., Dudchenko I.A Rol' polimorfizma SLC2A9 i ABCG2 genov v vozniknovenii giperurikemii i podagry (obzor). Georgial medical news. 2012; 3(252): 79-83. (In Russian).

17. Zhou D., Liu Y., Zhang X., Gu X., Wang H., Luo X. et al. Functional polymorphisms of the ABCG2 Gene Are Associated with Gout Disease in the Chinese Han Male Population International Journal of Molecular Sciences. 2014; 15(5): 91499159. doi: 10.3390/ijms15059149.

18. Higashino T., Takada T., Nakaoka H., Toyoda Y., Stiburkova B., Miyata H. et al. Multiple common and rare variants of ABCG2 cause gout. RMD Open. 2017; 3(2): e000464. doi: 10.1136/rmdopen-2017-000464.

19. Sakiyama M., Matsuo H., Takada Y., Nakamura T., Nakayama A., Takada T. et al. Ethnic differences in ATPbinding cassette transporter, sub-family G, member 2 (ABCG2/ BCRP): genotype combinations and estimated functions. Drug Metab Pharmacokinetics. 2014; 29: 490-492. doi: https://doi. org/10.2133/dmpk.DMPK-14-SC-041.

20. Kolz M., Johnson T., Sanna S., Teumer A., Vitart V., Perola M. et al. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 2009; 5(6): 1-10. doi: 10.1371/ journal.pgen.1000504.

21. Eliseev M.S. Updated EULAR guidelines for the management of gout. Comments on certain items. Rheumatology Science and Practice. 2017; 55(6): 600-609 (In Russian). doi: http://dx.doi.org/10.14412/1995-4484-2017-600-609.

22. Dehghan A., Köttgen A., Yang Q., Hwang S.J., Kao W.L., Rivadeneira F. et al. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet. 2008; 372: 1953-1961. doi: 10.1016/ S0140-6736(08)61343-4.

23. Samorodskaya I.V. Controversial issues in the treatment of coronary artery disease. Complex Issues of Cardiovascular Diseases. 2017; 6(4): 112-120. (In Russian). doi:10.17802/23061278-2017-6-4-112-120.

24. Ledyakhova M.V., Nasonova S.N., Tereshchenko S.N. Hyperuricemia as a predictor of chronic heart failure. Ration Pharmacother Cardiol 2015; 11(4): 355-358. (In Russian). doi: https://doi.org/10.20996/1819-6446-2015-11-4-355-358.

25. 2013 ESC guidelines on the management of stable coronary artery disease: the Task Force on the management of stable coronary artery disease of the European Society of Cardiology. Eur Heart J. 2013 Oct; 34(38): 2949-3003. doi: 10.1093/eurheartj/eht296.

26. Sinyutina E.A., Alexandria L.G., Trayanova T.G., Moiseev V.S. Hyperuricemia in patients with chronic heartfailure. Cardiorenal effects of allopurinol. Klinicheskaya Nefrologiya 2012; 2: 46-50. (In Russian).


Review

For citations:


Kushnarenko N.N., Mishko M.Yu., Medvedeva T.A., Vitkovsky Yu.A. ABCG2 GENE POLYMORPHISM IN PATIENTS WITH GOUT IN ZABAIKALSKY KRAI. Complex Issues of Cardiovascular Diseases. 2019;8(2):77-86. (In Russ.) https://doi.org/10.17802/2306-1278-2019-8-2-77-86

Views: 788


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2306-1278 (Print)
ISSN 2587-9537 (Online)