Association of TGF-β1 and TNF-α genes polymorphisms with the kidney scars forming risk in children with vesicoureteral reflux

Matrix accumulation in the tissue is the main pathological feature of fibrosis. TGF-β1 stimulates the production of extracellular matrix protein and induces fibrosis in different tissues. TNF-α is a proinflammatory cytokine produced in the kidneys by proximal tubular cells, mesenchymal cells, interstitial fibroblasts and macrophages. The aim of this study was to investigate the association of TGF-β1 and TNF-α genes polymorphisms with the risk of developing kidney scars in children with vesicoureteral reflux (VUR). DNA samples analyzed in this study were extracted by a phenol-chloroform method from the peripheral blood of 50 children with VUR and 70 healthy controls. The genotyping was performed by the PCR/RFLP method. Results of this study have shown that homozygous genotype T/T is more frequent in the patient group (χ2 = 13.92, p = 0.0009). It can be concluded that the presence of the genotype T/T on the position -509 in the promoter region TGF-β1 gene is a risk factor for the development of kidney scars in children with VUR (TT vs. CT + CC: OR = 19.4615; CI 2.420-156.477; p = 0.0003). However, there was the absence of association of the promoter region polymorphism of the TNF-α gene region with the risk of developing kidney scars of children with VUR.