The role of genetic factors in the development of recurrent urolithiasis

Abstract

Introduction. Urolithiasis is a polyethylological disease of the urinary system. Epidemiological data on urolithiasis is disappointing: over the past 30 years, the number of patients with urolithiasis has increased by 48.57%, and the mortality rate has increased by 17.12%. Single nucleotide polymorphisms in various genes can influence the risk of development and recurrence of this disease. Early diagnosis of a patient's genetic predisposition to primary or recurrent urolithiasis is important for the effective prevention of urolithiasis.Objective. To explore the association of SNP (Single Nucleotide Polymorphism) rs3134057 (TNFRS11B), rs851982 (ESR1), rs1540339 (VDR), rs2202127 (CASR), rs526906 (KL) with the development of recurrent urolithiasis.Materials and methods. The observed group consisted of 96 patients with a single-sided ureteral stone, of whom 45 had recurrent urolithiasis; the control group consisted of 51 volunteers. Venous blood samples were collected from all participants, DNA was extracted from the blood and analyzed for each SNP studied by real-time polymerase chain reaction. We analyze the data obtained on genotype and presence or absence of urolithiasis in the participants using a binomial logistic regression model.Results. An association was found between the presence of SNP rs3134057 in the TNFRS11B gene (odds ratio (OR), 1.92; confidence interval (CI): 1.05-3.52; p = 0.031) and the development of recurrent urolithiasis.Conclusion. The association of rs3134057 with urolithiasis relapse leads us to investigating the effect of this SNP on serum osteoprotegerin levels, a product of the TNFRS11B gene.

Keywords

• single nucleotide polymorphism
• recurrent urolithiasis
• tnf receptor superfamily member 11b
• estrogen receptor type i
• vitamin d receptor
• calcium-sensing receptor
• klotho