ALLELIC POLYMORPHISMS OF FOLATE CYCLE GENES AND THEIR IMPACT ON THE HEMOSTASIS SYSTEM
Keywords:
folate cycle, allelic polymorphisms, MTHFR C677T, homocysteine, hemostasis, thrombosis risk, metafolin, DNA methylationAbstract
Allelic polymorphisms in folate cycle genes, particularly in MTHFR (C677T and A1298C), MTR (A2756G), and MTRR (A66G), exert a significant influence on the function of the hemostasis system. These polymorphisms lead to elevated homocysteine levels, thereby increasing the risk of thrombogenesis. For instance, in individuals carrying the T allele of the MTHFR C677T polymorphism, reduced enzymatic activity results in hyperhomocysteinemia, which is associated with an increased risk of cardiovascular diseases and thromboembolic events
Downloads
References
Klerk M et al., JAMA, 2002;288(16):2023–2031.doi:10.1001/jama.288.16.2023
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
Stover PJ. One-carbon metabolism-genome interactions in folate-associated pathologies. J Nutr. 2020;150(1):7-16. doi:10.1093/jn/nxz249
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
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
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
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
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
Lee H, et al. Homocysteine-induced oxidative stress and platelet activation. Redox Biol. 2021;38:101757. doi:10.1016/j.redox.2020.101757
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
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
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
Smith J, et al. Personalized therapy targeting folate metabolism in thrombosis. Clin Appl Thromb Hemost. 2021;27:10760296211012345. doi:10.1177/10760296211012345
Patel R, et al. Genetic screening for thrombosis risk. Hematology. 2022;27(1):127-134. doi:10.1080/16078454.2022.2035945
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
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
All content published in the Journal of Applied Science and Social Science (JASSS) is protected by copyright. Authors retain the copyright to their work, and grant JASSS the right to publish the work under a Creative Commons Attribution License (CC BY). This license allows others to distribute, remix, adapt, and build upon the work, even commercially, as long as they credit the author(s) for the original creation.
