Genetic factors of polygenic urolithiasis.

Filippova Tamara Vladimirovna, Khafizov Кamil Faridovich, Rudenko Vadim Igorevich, Rapoport Leonid Mikhailovich, Tsarichenko Dmitry Georgievich, Enikeev Dmitry Victorovich, Korolev Dmitry Olegovich, Perekalina Anna Nikolaevna, Litvinova Мaria Мikhailovna

Journal: Urologia 2021;87(2):57-64

PMID: 32037979

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Abstract

The article summarizes the findings of Russian and international studies of the genetic aspects of polygenic urolithiasis associated with impairment of calcium metabolism. The article analyzes the genetic risk factors of polygenic nephrolithiasis that show significant association with the disease in case-control studies and Genome-Wide Association Studies (16 genes). We described the gene functions involved in concrement formation in polygenic nephrolithiasis. The modern molecular and genetic technologies (DNA microarray, high-throughput DNA sequencing, etc.) enable identification of the genetic predisposition to a specific disease, realization of the individualized treatment of the patient, and carrying out timely preventive measures among the proband's relatives.

Address: Department of Medical Genetics, Sechenov University, Moscow, Russia.; Research Group for the Development of New Diagnostics Methods based on the Next Generation Sequencing Technologies, Federal Budget Institution of Science "Central Research Institute of Epidemiology" of the Federal Service on Customers' Rights Protection and Human Well-Being Surveillance, Moscow, Russia.; Institute for Urology and Reproductive Health, Sechenov University, Moscow, Russia.; Department of Medical Genetics, Sechenov University, Moscow, Russia.; A.S. Loginov Moscow Clinical Scientific Center of the Moscow Healthcare Department, Moscow, Russia.

DOI: 10.1177/0391560319898375

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MeSH Terms: Humans, Multifactorial Inheritance, Urolithiasis