Key result
ITGB3 1565TC and MTHFR 1298AA polymorphisms linked to ~140% higher diabetic foot syndrome risk.
Why the study?
The prevalence and combinations of polymorphic variants of genes related to endothelial function and vascular-platelet hemostasis in diabetic foot syndrome were not well characterized.
Are specific genetic polymorphisms of endothelial and hemostasis markers associated with the development of diabetic foot syndrome in patients with diabetes mellitus?
Case-Control (n=397)
Are specific genetic polymorphisms of endothelial and hemostasis markers associated with the development of diabetic foot syndrome in patients with diabetes mellitus?
Odds Ratio: 2.4
Specific combinations of ITGB3 and MTHFR gene polymorphisms are significantly associated with either an increased risk or a protective effect against the development of diabetic foot syndrome in patients with diabetes.
Genetic variants may aid diabetic foot risk stratification in diabetes; leaves open causal roles and clinical utility pending replication.
The aim. To study the prevalence of various combinations of polymorphic variants of genes markers of endothelial function and vascular-platelet hemostasis in the development of diabetic foot syndrome.Materials and methods. In 198 patients with uncomplicated diabetes mellitus and 199 patients with diabetic foot syndrome, the frequency of polymorphic variants of the NOS 786C>T, END1 Lys198Asn, ITGB3 1565T>C (Leu33Pro), F5 1691G>A, F2 20210G>A, MMP9 8202A>G, MTHFR 1298A>C, VEGFA-634C>G genes was studied. Using binary logistic regression analysis, the relationship of various combinations of polymorphisms of the studied genes with the development of diabetic foot was assessed.Results. In diabetic foot syndrome, the most significant contribution is made by the combination of polymorphic variants of the ITGB3 1565T>C (Leu33Pro) and MTHFR 1298A>C genes. With the development of this complication of diabetes mellitus, a combination of the 1565 TC polymorphism of gene ITGB3 and the 1298AA polymorphism of gene MTHFR is 2.1 times more common. The association of the 1565TT polymorphism of gene ITGB3 and the 1298AC polymorphism of gene MTHFR is 2 times more common in diabetes mellitus without complications.Conclusion. The combination of the 1565TС polymorphism of gene ITGB3 and the 1298АА polymorphism of gene MTHFR is associated with the risk of developing a diabetic foot and increases the risk of developing this complication by 2.4 times. The presence of a combination of the 1565TT polymorphisms of gene ITGB3 and the 1298AC polymorphism of gene MTHFR is more common in uncomplicated diabetes mellitus, which suggests its protective effect against the development of diabetic foot syndrome.
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Troitskaya et al. (2021) conducted a case-control in Diabetic foot syndrome (n=397). Combination of 1565TC polymorphism of ITGB3 and 1298AA polymorphism of MTHFR vs. Absence of this polymorphism combination was evaluated on Development of diabetic foot syndrome (OR 2.4). The combination of the 1565TC polymorphism of the ITGB3 gene and the 1298AA polymorphism of the MTHFR gene increased the risk of developing diabetic foot syndrome by 2.4 times.
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