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Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary nephropathy characterized by abnormal growth of epithelial cells. Genetic factors, including the vascular endothelial growth factor (VEGF) gene, play an important role in its progression. The main aim of this study was to evaluate the influence of VEGF-C936T polymorphism in the development and progression of ADPKD. In total, 302 individuals were studied and divided into two groups: G1 (73 patients with ADPKD) and G2 (229 individuals without the disease). Among the patients, 46 (63%) progressed to end-stage renal disease (ESRD), and required hemodialysis and/or renal transplant. These patients were re-grouped into G1-A for progression analysis. A peripheral blood sample was obtained from all subjects; the DNA was extracted and the VEGF-C936T polymorphism analyzed using polymerase chain reaction/restriction fragment length polymorphism. The significance level was set at P &lt; 0.05. The homozygous wild-type genotype (C/C) was predominant in G1 (78%) and G2 (79%; P = 0.9249). We observed a significant reduction in the mean age of patients with the risk allele (C/T + T/T = 44.3 ± 13.4 years) compared to the C/C genotype (52.2 ± 9.6 years; P = 0.047) in G1-A. In conclusion, the VEGF-C936T polymorphism does not discriminate patients from controls. However, the presence of the T allele appears to accelerate the progression of ADPKD, anticipating ESRD, thereby suggesting its importance in the prognosis of the disease. However, the importance role played by VEGF gene variants in different populations and larger sample sizes must be verified.

Vascular endothelial growth factor as an angiogenesis biomarker for the progression of autosomal dominant polycystic kidney disease