Genetic factors of polygenic urolithiasis

Author:

Vladimirovna Filippova Tamara1,Faridovich Khafizov Кamil2,Igorevich Rudenko Vadim3,Mikhailovich Rapoport Leonid3,Georgievich Tsarichenko Dmitry3,Victorovich Enikeev Dmitry3,Olegovich Korolev Dmitry3ORCID,Nikolaevna Perekalina Anna3,Мikhailovna Litvinova Мaria14

Affiliation:

1. Department of Medical Genetics, Sechenov University, Moscow, Russia

2. 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

3. Institute for Urology and Reproductive Health, Sechenov University, Moscow, Russia

4. A.S. Loginov Moscow Clinical Scientific Center of the Moscow Healthcare Department, Moscow, Russia

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.

Publisher

SAGE Publications

Subject

General Medicine

Reference55 articles.

1. Alyaev YG, Rudenko VI, Gazimiev MA. Urolithiasis: diagnosis and treatment. Tver: Tryad, 2006, p. 236 (in Russian).

2. Alyaev YG, Rudenko VI, Gazimiev MA, et al. Urolithiasis: modern methods of diagnosis and treatment. Moscow: GEOTAR-Media, 2010, pp. 38–42 (in Russian).

3. Loimann E, Tsigin AN, Sarkisyan AA. Pediatric nephrology: practical guidelines. Moscow: Literature, 2010, pp. 390 (in Russian).

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