Genetic risk factors for recurrence-free urolithiasis in the russian population


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Abstract

Purpose. Search for and identification of possible associations of recurrence-free urolithiasis with polymorphisms of urolithiasis candidate genes in the Russian population. Materials and methods. The study involved 43 patients with recurrence-free urolithiasis, 13 (30.2%) women and 30 (69.8%) of men (main group) from Central Russia, and 189 healthy adults (control group) from the same region. The mean age of the main group was 42.5+13 years. The venous blood samples were used for the evaluation. Real-time PCR using the «Applied Biosystems» test systems was performed to determine the spectrum and frequency of eight urolithiasis candidate genes polymorphisms: tumor necrosis factor receptor gene (TNFRSF11B (rs3134057), vitamin D receptor gene (VDR, (rs1540339), extracellular calcium-sensing receptor gene (CASR, (rs2202127), calcium release -activatedcalcium modulator 1 gene (ORAI1, rs7135617), Klotho gene (KL, rs526906), nuclear estrogen receptor alpha-subunit gene (ESR1, rs851982), tumor necrosis factor 11 gene (TNFSF11, rs9525641), and 26 gene family anionic membrane transporter gene (SLC26A6, rs2310996). Fisher’s angular transformation and x2 test were used for statistical analysis of the data. Results. For ORAI1 gene, differences in genotype and allele frequencies in the control and main groups are significant: p=0.0001 and p=0.013, respectively. For polymorphisms of the other seven genes studied, the differences in genotype and allele frequencies are non-significant. The results indicate the presence of the association between recurrence-free urolithiasis and calcium release-activatedcalcium modulator 1 gene polymorphism (ORAI1, rs7135617), both in genotypes and alleles. Conclusions. In Russian population, genetic factors, in particular, ORAI1 (rs7135617) gene polymorphism, can play the role in the development of recurrence-free urolithiasis.

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About the authors

O. I Apolikhin

SRI of Urology and Interventional Radiology n.a. N.A. Lopatkin -Branch of the FSBI «National Medical Research Radiological Center» of RM

A. V Sivkov

SRI of Urology and Interventional Radiology n.a. N.A. Lopatkin -Branch of the FSBI «National Medical Research Radiological Center» of RM

O. V Konstantinova

SRI of Urology and Interventional Radiology n.a. N.A. Lopatkin -Branch of the FSBI «National Medical Research Radiological Center» of RM

Email: konstant-ov@yandex.ru

P. A Slominsky

Institute of Molecular Genetics of RAS

T. V Tupitsyna

Institute of Molecular Genetics of RAS

D. N Kalinichenko

SRI of Urology and Interventional Radiology n.a. N.A. Lopatkin -Branch of the FSBI «National Medical Research Radiological Center» of RM

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