Ключевые гены и полиморфизмы при мочекаменной болезни, ассоциированные с формированием оксалатных кальциевых, цистиновых и уратных камней
Автор: Полуконова Наталья Владимировна, Хотько Д.Н., Бучарская А.Б., Хотько А.И., Тарасенко А.И., Попков В.М., Алтынбаев Р.Р.
Журнал: Экспериментальная и клиническая урология @ecuro
Рубрика: Мочекаменная болезнь
Статья в выпуске: 4 т.17, 2024 года.
Бесплатный доступ
Введение. Мочекаменная болезнь (МКБ) - мультифакторное заболевание, затрагивающее все группы населения. Заболеваемость МКБ в разных странах варьирует от 1,7 до 14,8%. Риск развития МКБ зависит от возраста, пола, расы, географического положения и наследственной предрасположенности, при этом 40-50% пациентов имеют отягощенный семейный анамнез, поэтому поиск генетических маркеров, ассоциированных с МКБ, актуален.
Однонуклеотидные полиморфизмы (snp), мочекаменная болезнь, оксалатные, цистиновые, уратные камни
Короткий адрес: https://sciup.org/142243851
IDR: 142243851 | DOI: 10.29188/2222-8543-2024-17-4-144-149
Список литературы Ключевые гены и полиморфизмы при мочекаменной болезни, ассоциированные с формированием оксалатных кальциевых, цистиновых и уратных камней
- Romero V, Akpinar H, Assimos DG. Kidney stones: a global picture of prevalence, incidence, and associated risk factors. Rev Urol 2010;12:e86-e96.
- Каприн А.Д., Аполихин О.И., Сивков А.В., Анохин Н.В., Гаджиев Н.К., Малхасян В.А., и соавт. Заболеваемость мочекаменной болезнью в Российской Федерации с 2005 по 2020 гг. Экспериментальная и клиническая урология 2022;15(2):10-7. [Kaprin A.D., Apolikhin O.I., Sivkov A.V., Anokhin N.V., Gadzhiev N.K., Malhasyan V.A., et al. Incidence of urolithiasis in the Russian Federation from 2005 to 2020. Eksperimentalnaya i Klinicheskaya urologiya = Experimental and Clinical Urology 2022;15(2):10-17. (In Russian)]. https://doi.org/10.29188/2222-8543-2022-15-2-10-17.
- Аполихин О.И., Сивков А.В., Комарова В.А., М.Ю. Просянников, С.А. Голованов, А.В. Казаченко, и соавт. Заболеваемость мочекаменной болезнью в Российской Федерации. Экспериментальная и клиническая урология 2018;(4):4-14. [Apolikhin O.I., Sivkov A.V., Komarova V.A., M.Yu. Prosyannikov, S.A. Golovanov, A.V. Kazachenko, et al. Urolithiasis in the Russian Federation. Eksperimentalnaya i Klinicheskaya urologiya = Experimental and Clinical Urology (In Russian)].
- Baowaidan F, Zugail AS, Lyoubi Y, Culty T, Lebdai S, Brassart E, Bigot P. Incidence and risk factors for urolithiasis recurrence after endourological management of kidney stones: A retrospective single-centre study. Prog Urol 2022;32(8-9):601-7. https://doi.org/10.1016/j.purol.2022.02.010.
- Khan SR, Pearle MS, Robertson WG, Gambaro G, Canales BK, Doizi S, et al. Kidney stones. Nat Rev Dis Primers 2016;25(2):16008. https://doi.org/10.1038/nrdp.2016.8.
- Аляев Ю.Г., Руденко В.И., Газимиев М.А., Саенко В.С., Сорокин Н.И. Мочекаменная болезнь. Современные методы диагностики и лечения. ГЭОТАР-Медиа 2010:38-42. [Alyaev YU.G., Rudenko V.I., Gazimiev M.A., Saenko V.S., Sorokin N.I. Urolithiasis. Modern methods of diagnosis and treatment. GEOTAR-Media 2010:38-42. (In Russian)].
- Evan AP. Physiopathology and etiology of stone formation in the kidney and the urinary tract. Pediatr Nephrol 2010;25:831-41. https://doi.org/10.1007/s00467-009-1116-y.
- Monico CG, Milliner DS. Genetic determinants of urolithiasis. Nat Rev Nephrol 2011;8(3):151-62. https://doi.org/10.1038/nrneph.2011.211.
- Litvinova MM, Khafizov K, Korchagin VI, Speranskaya AS, Asanov AY, Matsvay AD, et al. Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population. Front Genet 2021;12:621049. https://doi.org/10.3389/fgene.2021.621049.
- Qin J, Cai Z, Xing J, Duan B, Bai P. Association between calcitonin receptor gene polymorphisms and calcium stone urolithiasis: A meta-analysis. Int Braz J Urol 2019;45(5):901-9. https://doi.org/10.1590/s1677-5538.ibju.2019.0061.
- Nakamura M, Zhang ZQ, Shan L, Hisa T, Sasaki M, Tsukino R, et al. Allelic variants of human calcitonin receptor in the Japanese population. Hum Genet 1996;99:38-41. https://doi.org/10.1007/s004390050307.
- Chen WC, Wu HC, Lu HF, Chen HY, Tsai FJ. Calcitonin receptor gene polymorphism: a possible genetic marker for patients with calcium oxalate stones. Eur Urol 2001;39:716-9. https://doi.org/10.1159/000052532.
- Mitra P, Guha M, Ghosh S, Mukherjee S, Bankura B, Pal DK, et al. Association of calcitonin receptor gene (CALCR) polymorphism with kidney stone disease in the population of West Bengal, India. Gene 2017;622:23-8. https://doi.org/10.1016/j.gene.2017.04.033.
- Lee H-J, Kim S-Y, Kim GS, Hwang J-Y, Kim Y-J, Jeong B, et al. Fracture, bone mineral density, and the effects of calcitonin receptor gene in postmenopausal Koreans. Osteoporos Int 2010;21:1351-60. https://doi.org/10.1007/s00198-009-1106-8.
- Shakhssalim N, Basiri A, Houshmand M, Pakmanesh H, Golestan B, Azadvari M, et al. Genetic polymorphisms in calcitonin receptor gene and risk for recurrent kidney calcium stone disease. Urol Int 2014;92:356-62. https://doi.org/10.1159/000353348.
- Vezzoli G, Terranegra A, Aloia A, Arcidiacono T, Milanesi L, Mosca E, et al. Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis. J Clin Endocrinol Metab 2013;98(9):3839-47. https://doi.org/10.1210/jc.2013-1834.
- Zhou H, Huang H, You Z, Shadhu K, Ramlagun D, Qiang C, et al. Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population. Medicine (Baltimore) 2018;97(45):e13037. https://doi.org/10.1097/md.0000000000013037.
- Lanka P, Devana SK, Singh SK, Sapehia D, Kaur J. Klotho gene polymorphism in renal stone formers from Northwestern India. Urolithiasis 2021;49(3):195-9. https://doi.org/10.1007/s00240-020-01226-2.
- Zhu Z, Xia W, Cui Y, Zeng F, Li Y, Yang Z, Hequn C. Klotho gene polymorphisms are associated with healthy aging and longevity: Evidence from a meta-analysis. Mech Ageing Dev 2019;178:33-40. https://doi.org/10.1016/j.mad.2018.12.003.
- Ali A, Tursun H, Talat A, Abla A, Muhtar E, Zhang T, Mahmut M. Association Study of Klotho Gene Polymorphism With Calcium Oxalate Stones in The Uyghur Population of Xinjiang, China. Urol J 2017;14(1):2939-43.
- Xu C, Song RJ, Yang J, Jiang B, Wang XL, 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;526(2):494-7. https://doi.org/10.1016/j.gene.2013.06.001.
- Amar A, Afzal A, Hameed A, Ahmad M, Khan AR, Najma H, et al. Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study. BMC Med Genet 2020;21(1):172. https://doi.org/10.1186/s12881-020-01101-2.
- Chen G, Hu C, Song Y, Xiu M, Liang W, Ou N, et al. Relationship Between the ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236) Variants in the Vitamin D Receptor Gene and Urolithiasis Susceptibility: An Updated Meta-Analysis and Trial Sequential Analysis. Front Genet 2020;11:234. https://doi.org/10.3389/fgene.2020.00234.
- Imani D, Razi B, Khosrojerd A, Motallebnezhad M, Rezaei R, Aslani S. Vitamin D receptor gene polymorphisms and susceptibility to urolithiasis: a meta-regression and meta-analysis. BMC Nephrol 2020;21:263. https://doi.org/10.1186/s12882-020-01919-1.
- Katritch V, Cherezov V, Stevens RC. Structure-Function of the G Protein-Coupled Receptor Superfamily. Annu Rev Pharmacol Toxicol 2012;53(1):531-56. https://doi.org/10.1146/annurevpharmtox-032112-135923.
- Kurosu H, Ogawa Y, Miyoshi M, Yamamoto M, Nandi A, Rosenblatt KP, et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem 2006;281(10):6120-3. https://doi.org/10.1074/jbc.c500457200.
- Guidi N, Sacma M, Ständker L, Soller K, Marka G, Eiwen K, et al. Osteopontin attenuates aging‐associated phenotypes of hematopoietic stem cells. EMBO j 2017;36(7):840-53. https://doi.org/10.15252/embj.201694969.
- Heaney RP. The Vitamin D requirement in health and disease. J Steroid Biochem Mol Biol 2005;97(1-2):13-9. https://doi.org/10.1016/j.jsbmb.2005.06.020.
- Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, et al. Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am J Hum Genet 1995;57:781-8.
- Pras E, Arber N, Aksentijevich I, Katz G, Schapiro JM, Prosen L, et al. Localization of a gene causing cystinuria to chromosome 2p. Nat Genet 1994;6:415-9. https://doi.org/10.1038/ng0494-415.
- Rosenberg LE, Downing SE, Durant JL, Segal S. Cystinuria: biochemical evidence for three genetically distinct diseases. J Clin Invest 1966;45:365-71. https://doi.org/10.1172/jci105351.
- Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, et al. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 2002;13:2547-53. https://doi.org/10.1097/01.asn.0000029586.17680.e5.
- Font M, Feliubadalo L, Estivill X, Nunes V, Golomb E, Kreiss Y, et al. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Molec Genet 2001;10:305-16. https://doi.org/10.1093/hmg/10.4.305.
- Endsley JK, Phillips JA, Hruska KA, Denneberg T, Carlson J, George AL. Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney Int 1997;51(6):1893-9. https://doi.org/10.1038/ki.1997.258.
- Goodyer P, Boutros M, Rozen R. The molecular basis of cystinuria: an update. Exp Nephrol 2000;8:123-7. https://doi.org/10.1159/000020659.
- Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 1994;6:420-5. https://doi.org/10.1038/ng0494-420.
- Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet 1999;23(1):52-7. https://doi.org/10.1038/12652.
- Goodyer PR, Clow C, Reade T, Girardin C. Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. J Pediat 1993;122:568-72. https://doi.org/10.1016/s0022-3476(05)83537-1.
- Leclerc D, Boutros M, Suh D, Wu Q, Palacin M, Ellis JR, et al. SLC7A9 mutations in all three cystinuria subtypes. Kidney Int 2002;62:1550-9. https://doi.org/10.1046/j.1523-1755.2002.00602.x.
- Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Soderkvist P. Mutation analysis of SLC7A9 in cystinuria patients in Sweden. Genet Test 2003;7:13-20. https://doi.org/10.1089/109065703321560886.
- Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis, L, Rousaud F, et al. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 2005;42:58-68. https://doi.org/10.1136/jmg.2004.022244.
- Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, et al. Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. Clin Genet 2012;81:47-55. https://doi.org/10.1111/j.1399-0004.2011.01638.x.
- Terkeltaub R. Gout. Novel therapies for treatment of gout and hyperuricemia. Arthritis Res Ther 2009;11(4):236. https://doi.org/10.1186/ar2738.
- Vargas-Morales JM, Guevara-Cruz M, Aradillas-García C, G Noriega L, Tovar A, Alegría-Torres JA. Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults. F1000Res 2021;10:217. https://doi.org/10.12688/f1000research.46399.2.
- Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, et al. New loci associated with kidney function and chronic kidney disease. Nat Genet 2010;42(5):376-84. https://doi.org/10.1038/ng.568. https://doi.org/10.1038/ng.568.
- Phipps-Green AJ, Merriman ME, Topless R, Altaf S, Montgomery GW, Franklin C, et al. . Twenty-eight loci that influence serum urate levels: Analysis of association with gout. Ann Rheum 2016;75:124-30. https://doi.org/10.1136/annrheumdis-2014-205877.
- Tin A, Marten J, Halperin Kuhns VL, Li Y, Wuttke M, Kirsten H, et al. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nat Genet 2019;51(10):1459-74. https://doi.org/10.1038/s41588-019-0504-x.