THE SIGNIFICANCE OF THE C718T (RS713041) POLYMORPHISM IN THE GPX4 GENE IN TYPE 2 DIABETES MELLITUS COMPLICATED BY ANGIOPATHY
Keywords:
GPX4 gene, C718T (RS713041) polymorphism, diabetic angiopathy, oxidative system, antioxidant system, vascular damageAbstract
The GPX4 gene (located at 19p13.3) is located in the 3' untranslated region (3'UTR), and the functionally significant C718T (rs713041) polymorphism is highly associated with diabetes mellitus. Mutations in this regulatory region are known to affect messenger RNA (mRNA) stability, translation efficiency, and ultimately the concentration of active enzyme in the cell. Substitution of cytosine (C) for thymine (T) is associated with decreased GPX4 enzyme activity. This article presents important aspects of this gene in patients with diabetic angiopathy.
References
Alekseychik S. Ye. i dr. Prognoz i razvitie oslojneniy u pasientov s saxarnim diabetom. Vliyanie priverjennosti k lecheniyu na kachestvo jizni //BBK 51 A 43. – 2019. – S. 46(in Rus)
Aliyu U. et al. Genetic risk and polygenic risk score assessment of prediabetes and progression to type 2 diabetes //Diabetes, Obesity and Metabolism. – 2025, r.43-56(in Eng)
Ashenhurst J. R. et al. A polygenic score for type 2 diabetes improves risk stratification beyond current clinical screening factors in an ancestrally diverse sample //Frontiers in Genetics. – 2022. – T. 13. – S. 871260.(in rus)
An Y. et al. The role of oxidative stress in diabetes mellitus-induced vascular endothelial dysfunction //Cardiovascular diabetology. – 2023. – T. 22. – №. 1. – S. 237.(in Eng)
Zhang H. et al. Endothelial dysfunction in diabetes and hypertension: role of microRNAs and long non-coding RNAs //Life sciences. – 2018. – T. 213. – S. 258-268.(in English)
Camacho J. E. et al. Performance of A1C versus OGTT for the diagnosis of prediabetes in a community-based screening //Endocrine Practice. – 2016. – T. 22. – №. 11. – S. 1288-1295(in English)
Kostyuk S. A. Geni predraspolojennosti k mul'tifaktornim zabolevaniyam i geneticheskiy polimorfizm: chto eto takoe? //Medisinskie novosti. – 2020. – №. 7 (310). – S. 42-46.(in Rus)
Scioli M. G. et al. Oxidative stress and new pathogenetic mechanisms in endothelial dysfunction: potential diagnostic biomarkers and therapeutic targets //Journal of clinical medicine. – 2020. – T. 9. – №. 6. – S. 1995.(In English)
Lima J. E. B. F., Moreira N. C. S., Sakamoto-Hojo E. T. Mechanisms underlying the pathophysiology of type 2 diabetes: From risk factors to oxidative stress, metabolic dysfunction, and hyperglycemia //Mutation Research/Genetic Toxicology and Environmental Mutagenesis. – 2022. – T. 874. – S. 503437.(in English)
