The TCF7L2 rs12255372 polymorphism, particularly the T allele, is associated with an increased risk of type 2 diabetes mellitus and early renal dysfunction, and may serve as a promising molecular marker for early risk stratification of diabetic kidney disease.
Abstract
Background. Polymorphisms of the TCF7L2 gene are among the most important genetic risk factors for type 2 diabetes mellitus (T2DM); however, their role in the development of diabetic kidney disease (DKD) remains insufficiently understood.Objective. To evaluate the association between the TCF7L2 rs12255372 polymorphism and the risk of type 2 diabetes mellitus, as well as its relationship with renal function.Materials and Methods. The study included 86 patients with T2DM and 24 healthy controls. Genotyping of the TCF7L2 rs12255372 polymorphism was performed using polymerase chain reaction. Allele and genotype distributions were analyzed together with renal function parameters, including estimated glomerular filtration rate (eGFR), urea, creatinine, nephrin, and cystatin C.Results. The T allele was significantly more frequent in patients than in controls (29.7% vs. 2.1%; OR=19.8; 95% CI: 4.54–86.37; p=0.01). Carriers of the TT genotype demonstrated a significantly lower eGFR (74.8±3.24 mL/min/1.73 m²; p<0.01) and higher serum urea levels (7.90±1.28 mmol/L; p<0.05) compared with carriers of the GG and GT genotypes. Although differences in nephrin and cystatin C levels were not statistically significant, an increasing trend was observed among TT carriers.Conclusions. The TCF7L2 rs12255372 polymorphism, particularly the T allele, is associated with an increased risk of type 2 diabetes mellitus and early renal dysfunction. This genetic variant may serve as a promising molecular marker for early risk stratification of diabetic kidney disease.
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