Genetic risk factors for multiple kidney stone formation in the Russian population


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Abstract

This study examines the association of multiple kidney stones with polymorphisms of urolithiasis candidate genes in the Russian population. A total of 75 adult patients with multiple stones (the main group) residing in the Central Russia and 189 healthy adults (control group) from the same region underwent genetic testing. The study group consisted of 41 (54.7%) males and 34 (45.3%) females with mean age 44.5±14 years. The material for the study was samples of venous blood. Spectrum and frequency of polymorphic variants of four urolithiasis candidate genes were determined using real time PCR: the Klotho gene (Kl, rs526906), vitamin D receptor gene (VDR, rs1540339), gene of the extracellular calcium-sensitive receptor (CASR, rs2202127), calcium release-activated calcium modulator 1 (ORAI1, rs7135617). Fisher angular conversion and x2 tests showed association between the genetic polymorphisms of ORAI1 and multiple kidney stone formation in the Russian population. No association was found between multiple kidney stones and polymorphisms of genes encoding Kl, VDR, CASR. These results indicate that genetic factors, in particular polymorphic variants of the ORAI calcium release-activated calcium modulator 1 (ORAI1, rs7135617), may affect multiple kidney stone formation in the Russian population.

About the authors

O I Apolihin

'Research Institute of Urology and Interventional Radiology n.a.N.A. lopatkin - Branch of National Medical Radiological Research Centre of Minzdrav of Russia

'Research Institute of Urology and Interventional Radiology n.a.N.A. lopatkin - Branch of National Medical Radiological Research Centre of Minzdrav of Russia

A V Sivkov

'Research Institute of Urology and Interventional Radiology n.a.N.A. lopatkin - Branch of National Medical Radiological Research Centre of Minzdrav of Russia

'Research Institute of Urology and Interventional Radiology n.a.N.A. lopatkin - Branch of National Medical Radiological Research Centre of Minzdrav of Russia

O V Konstantinova

'Research Institute of Urology and Interventional Radiology n.a.N.A. lopatkin - Branch of National Medical Radiological Research Centre of Minzdrav of Russia

'Research Institute of Urology and Interventional Radiology n.a.N.A. lopatkin - Branch of National Medical Radiological Research Centre of Minzdrav of Russia

P A Slominskij

Institute of Molecular Genetics of RAS

Institute of Molecular Genetics of RAS

T V Tupicyna

Institute of Molecular Genetics of RAS

Institute of Molecular Genetics of RAS

D N Kalinichenko

'Research Institute of Urology and Interventional Radiology n.a.N.A. lopatkin - Branch of National Medical Radiological Research Centre of Minzdrav of Russia

'Research Institute of Urology and Interventional Radiology n.a.N.A. lopatkin - Branch of National Medical Radiological Research Centre of Minzdrav of Russia

References

  1. Attanasio M. The genetic components of idiopathic nephrolithiasis. Pediatr. Nephrol. 2011;26(3):337-346.
  2. Аполихин О.И., Сивков А.В., Москалева Н.Г., Солнцева Т.В., Комарова В.А. Анализ урологической заболеваемости и смертности в Российской Федерации за десятилетний период (2002-2012). Экспериментальная и клиническая урология. 2014;2:4-12. 3.
  3. Избранные лекции по урологии. Под ред. Лопаткина Н.А., Мартова А.Г. М.: Литтерра, 2008.
  4. Аляев Ю.Г., Кузьмичева Г.М., Колесникова М.О, Руденко В.И., Мельников Д.В., Чернобровкин М.Г. Клиническое значение физико-химического исследования состава мочевых камней и мочи. Урология. 2009;1:8-12.
  5. Дутов В.В., Уренков С.Б., Паршен1кова И.Г., Румянцев А.А., Мамедов Э.А. Особенности чрескожной нефролитотрипсии у пациентов с мочекаменной болезнью единственной почки. Урология. 2015;2:52-55.
  6. Eisner B.H., Goldfarb D.S., Pareek G. Pharmacologic treatment of kidney stone disease. Urol. Clin. North Am. 2013;40(1):21-30.
  7. Bagga H.S., Chi T., Miller J., Stoller M.L. New insights into the pathogenesis of renal calculi. Urol. Clin. North Am. 2013; 40(1):1-12.
  8. Rule A., Lieske J., Li X., Melton L.J., Krambeck A.E., Bergstralh E.J. The ROKS nomogram for predicting a second symptomatic stone episode. American Society of Nephrology. 2014;25:2878-2886.
  9. Тиктинский О.Л., Александров В.П. Мочекаменная болезнь. СПб.: Питер, 2000. 384 с.
  10. Xu C., Song R., Yang J., Jiang B., Wang X.L., Wu W., Zhang W. Klotho gene polymorphism of rs3752472 is associated with the risk of urinary calculi in the population of Han nationality in Eastern China. Gene. 2013;2:494-497.
  11. Wang S., Wang X., Wu J., Lin Y., Chen H., Zheng X., Zhou C., Xie L. Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population. Urol. Res. 2012;4:277-284.
  12. Vezzoli G., Terranegra A., Aloia A., Arcidiacono T., Milanesi L., MoscaE.,MingioneA.,SpottiD., Cusi D.,Hou J.,HendyG.N.,Soldati L.; GENIAL network (Genetics and Environment in Nephrolithiasis Italian Alliance), Paloschi V., Dogliotti E., Brasacchio C., Dell'Antonio G., Montorsi F., Bertini R., Bellinzoni P., Guazzoni G., Borghi L., Guerra A., Allegri F., Ticinesi A., Meschi T., Nouvenne A., Lupo A., Fabris A., Gambaro G., Strazzullo P., Rendina D., De Filippo G., Brandi M.L., Croppi E., Cianferotti L., Trinchieri A., Caudarella R., Cupisti A., Anglani F., Del Prete D. Decreased transcriptional activity of calciumsensing receptor gene promoter 1 is associated with calcium nephrolithiasis. J. Clin. Endocrinol. Metab. 2013;98:3839-3847.
  13. Chou Y., JuoS., Chiu Y.,LiuM.E, Chen W.C., ChangC.C., ChangW.P., Chang J.G., Chang W.C. A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis.
  14. Аполихин О.И., Сивков А.В., Константинова О.В., Сломинский П.А., Тупицына Т.В. Калиниченко Д.Н. Поиск полиморфных вариантов кандидатных генов мочекаменной болезни в российской популяции. Экспериментальная и клиническая урология. 2013;3:56-60.
  15. Аполихин О.И., Сивков А.В., Константинова О.В., Сломинский П.А., Тупицына Т.В. Калиниченко Д.Н. Генетические факторы риска различных форм уролитиаза в российской популяции. Тезисы докладов XXII Российского национального конгресса «Человек и лекарство». 2015. С. 16.
  16. Константинова О.В., Аполихин О.И., Сивков А.В., Сломинский П.А., Тупицына Т.В. Калиниченко Д.Н. Генетические факторы риска рецидивирования мочекаменной болезни в россииской популяции. Тезисы докладов XXII Российского национального конгресса «Человек и лекарство». 2015. С. 54.

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