Molecular and genetic predictors of urolithiasis: development of a diagnostic panel

Popov S.V., Guseinov R.G., Sivak K.V., Vasin A.V., Beshtoyev A.Kh., Malyshev E.A., Khaitmetov A.L., Aibazov A.S., Lelyavina T.A.

1) St. Petersburg Clinical Hospital of St. Luke, St. Petersburg, Russia; 2) St. Petersburg Medical and Social Institute, St. Petersburg, Russia; 3) A.A. Smorodintsev Research Institute of Influenza, St. Petersburg, Russia; 4) Almazov National Medical Research Center, St. Petersburg, Russia

Аim of the study was to develop a molecular genetic biomarkers panel to identify correlations between gene polymorphisms
and urolithiasis.
Material and methods. Modern molecular biological methods were used: polymerase chain reaction (PCR) using various DNA polymerases, CRISPR-Cas technology (using various Cas nucleases (SpCas9, CcCas9, CoCas9, PpCas9) to detect genetic polymorphisms), RNA synthesis methods, restriction analysis, electrophoretic methods, and spectrophotometric analysis.
Results. Study confirmed potential of using CRISPR-Cas technology for detecting genetic polymorphisms associated with risk of urolithiasis. Most significant results obtained when working with VDR and TRPV5 gene polymorphisms, demonstrating the specific detection feasibility of mutant variants using CcCas9, CoCas9, and PpCas9-based systems. Study identified certain limitations of the method when working with CALCR and RGS14 polymorphisms, indicating the need for further optimization of experimental conditions and the selection of more effective systems for specific targets. Hractical significance of the study lies in the potential application of the developed approaches to creating a diagnostic panel of genetic markers for urolithiasis.
Conclusions. This study laid the foundation for the creation an effective diagnostic platform capable of making a significant contribution to the development of personalized medicine in the field of urolithiasis.

Keywords

About the Authors

Popov Sergey Valerievich – Doctor of Medical Sciences, Professor, Chief Physician, St. Luke’s Clinical Hospital, Saint Petersburg State Medical University. Address: 46 Chugunnaya St., 194044 Saint Petersburg; e-mail: lucaclinic@mail.ru . Professor of the Department of Surgery, St. Petersburg Medical and Social Institute. Address: 195092 St. Petersburg, Kondratyevsky Prospekt, 72A. ORCID: 0000-0003-2767-7153
Huseynov Ruslan Huseynovich – PhD, Deputy Chief Physician for Scientific Activities at St. Luke’s Clinical Hospital in Saint Petersburg. Address: 46 Chugunnaya St.,
194044 Saint Petersburg; Senior Lecturer at the Department of Surgery, St. Petersburg Medical and Social Institute. Address: 72A Kondratievsky Prospekt,
195092 Saint Petersburg. e-mail: rusfa@yandex.ru . ORCID: 0000-0001-9935-0243
Sivak Konstantin Vladimirovich – Doctor of Biological Sciences, a leading researcher at the Scientific Department of St. Luke’s Clinical Hospital in St. Petersburg. Address: 46 Chugunnaya str., Saint Petersburg, 194044; Head of Department Department of Preclinical Research, Federal State Budgetary Institution A.A. Smorodintsev Influenza Research Institute of the Ministry of Health of the Russian Federation. Address: 197022, St. Petersburg, Prof. Popova Street 15/17; e-mail: kvsivak@gmail.com ORCID: 0000-0003-4064-5033
Vasin Andrey Vladimirovich – Doctor of Biological Sciences, Researcher at the Scientific Department of St. Luke’s Clinical Hospital in Saint Petersburg. Address: 46 Chugunnaya St., 194044 Saint Petersburg; Professor at the A.A. Smorodintsev Federal State Budgetary Research Institute of Influenza of the Ministry of Health of the Russian Federation. Address: 197022, St. Petersburg, Prof. Popova Street 15/17; e-mail: vasin_av@spbstu.ru, ORCID: 0000-0002-1391-7139
Beshtoev Ahmed Khatauovich - researcher at St. Luke’s Clinical Hospital in Saint Petersburg. Address: 46 Chugunnaya St., 194044 Saint Petersburg; phone: +7 (812) 576-11-08; e-mail: khmed.beshtoev@gmail.com. ORCID: https://orcid.org/0009-0004-6436-3860
Malyshev Egor Alekseevich – researcher at St. Luke’s Clinical Hospital in St. Petersburg. Address: 46 Chugunnaya St., 194044 Saint Petersburg; phone: +7 (812) 576-11-08;
e-mail: malyshevyegor@gmail.com. ORCID: 0000-0001-6294-6182
Aybazov Azamat Soltan-Khamitovich – researcher at St. Luke’s Clinical Hospital in Saint Petersburg. Address: 46 Chugunnaya St., 194044 Saint Petersburg; phone:
+7 (812) 576-11-08; e-mail: aaibazov20@gmail.com. ORCID: 0009-0009-6755-6867
Khaitmetov Abdulaziz Lutfulloevich – researcher at St. Luke’s Clinical Hospital in Saint Petersburg. Address: 46 Chugunnaya St., 194044 Saint Petersburg;
phone: +7 (812) 576-11-08; e-mail: hugh97@bk.ru. ORCID: 0009-0002-2267-7285.
Lelyavina Tatyana Alexandrovna – Doctor of Medicine, Professor of the Department of Pathological Physiology of the V.A. Almazov Moscow State Medical University of the Ministry of Health of the Russian Federation. Address: 197341 Saint Petersburg, Akkuratova str., 2; senior Researcher at the Scientific Department of St. Petersburg State Medical Institution St. Luke’s Clinical Hospital. Address: 46 Chugunnaya St., 194044 Saint Petersburg; e-mail: tatianalelyavina@mail.ru. ORCID: 0000-0002-1834-4982

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