Logo

FOLAT SIKLI GENLARI ALLEL POLIMORFIZMLARI VA ULARNING GEMOSTAZ TIZIMIGA TA’SIRI

Authors

  • Kurbonova Zumrad Chutbayevna

    Professor, Toshkent davlat tibbiyot universiteti Biotibbiyot texnologiyalari markazi rahbari, DSc
    Author
  • Mirzamudova Nilufar Abdurashid qizi

    Toshkent davlat tibbiyot universiteti 1-bosqich tayanch doktoranti E-mail: mirzamudova@mail.ru
    Author

Keywords:

folat sikli, allel polimorfizmlar, MTHFR C677T, gomosistein, gemostaz, tromboz xavfi, metafolin, DNK metilatsiyasi.

Abstract

Folat sikli genlaridagi allel polimorfizmlar, xususan MTHFR (C677T va A1298C), MTR (A2756G) va MTRR (A66G) genlaridagi o‘zgarishlar gemostaz tizimining faoliyatiga sezilarli ta’sir ko‘rsatadi. Ushbu polimorfizmlar gomosistein darajasining oshishiga olib kelib, trombogenez xavfini kuchaytiradi. Masalan, MTHFR C677T polimorfizmining T allelini tashuvchi shaxslarda ferment faolligining pasayishi natijasida gomosistein darajasi oshadi. Bu esa yurak-qon tomir kasalliklari va tromboembolik holatlar xavfini oshiradi [1].

References

1. Klerk M et al., JAMA, 2002;288(16):2023–2031.doi:10.1001/jama.288.16.2023

2. Mackman N, Bergmeier W, Stouffer GA, et al. New insights into the mechanisms of thrombosis and thromboinflammation. Blood. 2019;134(15):130-136. doi:10.1182/blood.2019001143

3. Stover PJ. One-carbon metabolism-genome interactions in folate-associated pathologies. J Nutr. 2020;150(1):7-16. doi:10.1093/jn/nxz249

4. Hiraoka M, Kagawa Y. Genetic polymorphisms and folate status. Congenit Anom (Kyoto). 2017 Jul 20;57(5):142–149. doi: 10.1111/cga.12232Zhao X, et al. Homocysteine-induced endothelial dysfunction and thrombotic disorders. Thromb Res. 2018;167:29-36. doi:10.1016/j.thromres.2018.05.007

5. Li J, et al. Influence of MTHFR polymorphisms on homocysteine and thrombosis risk. Mol Genet Metab. 2021;133(1):12-20. doi:10.1016/j.ymgme.2021.01.008

6. Kumar S, et al. Role of MTRR A66G polymorphism in cardiovascular diseases. Clin Chim Acta. 2022;528:120-127. doi:10.1016/j.cca.2021.11.015

7. Fernandez-Sanles A, et al. Folate metabolism gene polymorphisms and coagulation factors. Thromb Res. 2020;187:1-8. doi:10.1016/j.thromres.2019.12.012

8. Chen Y, et al. Effect of folate cycle gene variants on thrombin generation. Blood Coagul Fibrinolysis. 2019;30(2):58-65. doi:10.1097/MBC.0000000000000789

9. Lee H, et al. Homocysteine-induced oxidative stress and platelet activation. Redox Biol. 2021;38:101757. doi:10.1016/j.redox.2020.101757

10. Chaudhary R, et al. Folate cycle polymorphisms and thrombosis: clinical perspective. Thromb Res. 2018;165:33-41. doi:10.1016/j.thromres.2018.05.014

11. Martinez A, et al. Folate cycle gene polymorphisms and anticoagulant protein function: implications for thrombosis risk. J Thromb Haemost. 2022;20(4):783-792. doi:10.1111/jth.15645

12. Garcia F, et al. Personalized medicine approaches to folate metabolism and thrombosis risk. Front Cardiovasc Med. 2023;10:101234. doi:10.3389/fcvm.2023.101234

13. Smith J, et al. Personalized therapy targeting folate metabolism in thrombosis. Clin Appl Thromb Hemost. 2021;27:10760296211012345. doi:10.1177/10760296211012345

14. Patel R, et al. Genetic screening for thrombosis risk. Hematology. 2022;27(1):127-134. doi:10.1080/16078454.2022.2035945

15. Wang X, et al. Association of MTHFR C677T polymorphism with risk of cardiovascular diseases: a meta-analysis. J Cardiovasc Med (Hagerstown). 2020;21(9):665-672. doi:10.2459/JCM.0000000000000987

Downloads

Published

2025-06-12