doiSerbia

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

Jugović Dragana (Pediatric Internal Diseases Clinic, Clinical Center, Niš, Serbia)
Miljković Predrag (Pediatric Internal Diseases Clinic, Clinical Center, Niš, Serbia)
Jevtović-Stoimenov Tatjana (University of Niš, Faculty of Medicine, Research Center for Biomedicine, Niš, Serbia)
Despotović Milena (University of Niš, Faculty of Medicine, Research Center for Biomedicine, Niš, Serbia)
Madić Višnja (University of Niš, Faculty of Science and Mathematics, Department of Biology and Ecology, Niš, Serbia)
Milićević Aleksandar (Pathology and Pathological Anatomy Center, Clinical Center, Niš, Serbia)
Vukelić-Nikolić Marija (University of Niš, Faculty of Medicine, Research Center for Biomedicine, Niš, Serbia)
Vasiljević Perica (University of Niš, Faculty of Science and Mathematics, Department of Biology and Ecology, Niš, Serbia)

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.

Keywords: gene polymorphism, PCR, TNF-α, TGF-β1, VUR, kidney scars