TY - JOUR

T1 - СОСТОЯНИЕ ПРОБЛЕМЫ ВЛИЯНИЯ ПОЛИМОРФИЗМА ГЕНОВ НА РАЗВИТИЕ МОЧЕКАМЕННОЙ БОЛЕЗНИ В РАЗЛИЧНЫХ ПОПУЛЯЦИЯХ

AU - Valerievich, P.S.

AU - Huseynovich, H.R.

AU - Vladimirovich, V.A.

AU - Nikolaevna, I.-S.I.

AU - Vladimirovich, S.K.

AU - Nikolaevich, S.O.

AU - Aleksandrovna, G.I.

AU - Sergeevich, B.N.

AU - Aleksandrovich, M.E.

AU - Khatauvich, B.A.

AU - Ruslanovich, H.K.

AU - Aleksandrovna, L.T.

N1 - Export Date: 09 March 2026; Cited By: 0

PY - 2025

Y1 - 2025

N2 - Urolithiasis is a common recurrent urological disease that continues to show increasing global incidence. Its pathogenesis is multifactorial, and the evident role of genetic factors highlights the importance of identifying gene polymorphisms associated with susceptibility to stone formation. We performed an analysis of published data evaluating the contribution of individual gene polymorphisms to urolithiasis development in populations across different countries. This review included publications from Russian and international databases (2013-2024). Both review articles and original research studies were considered eligible if they included adult patients (>18 years) with one or more episodes of urolithiasis and, preferably, reported odds ratios (OR) with statistical significance at p<0.05. Stone formation is now associated with several gene polymorphisms involved in calcium metabolism. This article summarizes data on the roles of polymorphisms in the genes of VDR, urokinase, Klotho, osteopontin, extracellular calcium-sensing receptor, CLDN family, and ORAI1 across various populations. Associations between specific polymorphisms and the development or recurrence of urolithiasis are described. Current evidence regarding the relationship between genetic polymorphisms and urolithiasis across populations is heterogeneous and, in some cases, contradictory. This variability likely reflects the complex interplay between genetic predisposition and environmental factors. Given the multifactorial nature of stone formation, no single gene or polymorphism can be expected to exert a dominant influence on disease risk or recurrence. Nonetheless, identifying candidate genes involved in urolithiasis remains a promising approach for improving population health and reducing healthcare costs. © 2025, Bionika Media Ltd. All rights reserved.

AB - Urolithiasis is a common recurrent urological disease that continues to show increasing global incidence. Its pathogenesis is multifactorial, and the evident role of genetic factors highlights the importance of identifying gene polymorphisms associated with susceptibility to stone formation. We performed an analysis of published data evaluating the contribution of individual gene polymorphisms to urolithiasis development in populations across different countries. This review included publications from Russian and international databases (2013-2024). Both review articles and original research studies were considered eligible if they included adult patients (>18 years) with one or more episodes of urolithiasis and, preferably, reported odds ratios (OR) with statistical significance at p<0.05. Stone formation is now associated with several gene polymorphisms involved in calcium metabolism. This article summarizes data on the roles of polymorphisms in the genes of VDR, urokinase, Klotho, osteopontin, extracellular calcium-sensing receptor, CLDN family, and ORAI1 across various populations. Associations between specific polymorphisms and the development or recurrence of urolithiasis are described. Current evidence regarding the relationship between genetic polymorphisms and urolithiasis across populations is heterogeneous and, in some cases, contradictory. This variability likely reflects the complex interplay between genetic predisposition and environmental factors. Given the multifactorial nature of stone formation, no single gene or polymorphism can be expected to exert a dominant influence on disease risk or recurrence. Nonetheless, identifying candidate genes involved in urolithiasis remains a promising approach for improving population health and reducing healthcare costs. © 2025, Bionika Media Ltd. All rights reserved.

KW - genetic risk factors

KW - nephrolithiasis

KW - polymorphism

KW - urolithiasis

U2 - 10.18565/urology.2025.6.115-121

DO - 10.18565/urology.2025.6.115-121

M3 - статья

VL - 2025

SP - 115

EP - 121

JO - УРОЛОГИЯ

JF - УРОЛОГИЯ

SN - 1728-2985

IS - 6

ER -