Current state of research on the role of gene polymorphisms in the development of urolithiasis in different popu- lations

Popov S.V., Huseynov R.G., Vasin A.V., Isakova-Sivak I.N., Sivak K.V., Skryabin O.N., Gorbacheva I.A., Bunenkov N.S., Malyshev E.A., Beshtoev A.Kh., Huseynov K.R., Lelyavina T.A.

1) Saint Luka Clinical Hospital, Saint Petersburg, Russia; 2) Smorodintsev Research Institute of Influenza, Saint Petersburg, Russia; 3) St. Petersburg Medical and Social Institute, Saint Petersburg, Russia; 4) The Great St. Petersburg Polytechnic University, Saint Petersburg, Russia; 5) Almazov National Medical Research Centre, Saint Petersburg, Russia

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.

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About the Authors

Corresponding author: T.A. Lelyavina – Ph.D., MD, Leading Researcher, Laboratory of Microcirculation and Myocardial Metabolism, Institute of Experimental Medicine, Almazov National Medical Research Centre; Researcher, Saint Luka Clinical Hospital, Saint Petersburg, Russia; e-mail: tatianalelyavina@mail.ru

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