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Mediators of Inflammation
Volume 2015, Article ID 375427, 7 pages
http://dx.doi.org/10.1155/2015/375427
Research Article

A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients

1Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan
2Master’s Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei 11031, Taiwan
3Department of Urology, College of Medicine, Kaohsiung Medical University, Kaohsiung 80756, Taiwan
4Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung 80756, Taiwan
5Department of Pharmacy, Wan Fang Hospital, Taipei Medical University, Taipei 11696, Taiwan

Received 17 December 2014; Revised 31 March 2015; Accepted 17 April 2015

Academic Editor: Grace Kuo

Copyright © 2015 Anas Khaleel et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. O. W. Moe, “Kidney stones: pathophysiology and medical management,” The Lancet, vol. 367, no. 9507, pp. 333–344, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. V. Romero, H. Akpinar, and D. G. Assimos, “Kidney stones: a global picture of prevalence, incidence, and associated risk factors,” Reviews in Urology, vol. 12, no. 2-3, pp. e86–e96, 2010. View at Google Scholar
  3. L. Atan, C. Andreoni, V. Ortiz et al., “High kidney stone risk in men working in steel industry at hot temperatures,” Urology, vol. 65, no. 5, pp. 858–861, 2005. View at Publisher · View at Google Scholar · View at Scopus
  4. G. Bihl and A. Meyers, “Recurrent renal stone disease—advances in pathogenesis and clinical management,” Lancet, vol. 358, no. 9282, pp. 651–656, 2001. View at Publisher · View at Google Scholar · View at Scopus
  5. D. S. Goldfarb, “Prospects for dietary therapy of recurrent nephrolithiasis,” Advances in Chronic Kidney Disease, vol. 16, no. 1, pp. 21–29, 2009. View at Publisher · View at Google Scholar · View at Scopus
  6. S. R. Khan, P. A. Glenton, and K. J. Byer, “Dietary oxalate and calcium oxalate nephrolithiasis,” Journal of Urology, vol. 178, no. 5, pp. 2191–2196, 2007. View at Publisher · View at Google Scholar · View at Scopus
  7. E. N. Taylor, M. J. Stampfer, and G. C. Curhan, “Dietary factors and the risk of incident kidney stones in men: new insights after 14 years of follow-up,” Journal of the American Society of Nephrology, vol. 15, no. 12, pp. 3225–3232, 2004. View at Publisher · View at Google Scholar · View at Scopus
  8. L. Borghi, T. Meschi, F. Amato, A. Briganti, A. Novarini, and A. Giannini, “Urinary volume, water and recurrences in idiopathic calcium nephrolithiasis: a 5-year randomized prospective study,” Journal of Urology, vol. 155, no. 3, pp. 839–843, 1996. View at Publisher · View at Google Scholar · View at Scopus
  9. M. B. Damasio, F. Massarino, F. Durand et al., “Prevalence of fasting hypercalciuria associated with increased citraturia in the ambulatory evaluation of nephrolithiasis,” Journal of Nephrology, vol. 18, no. 3, pp. 262–266, 2005. View at Google Scholar · View at Scopus
  10. J. Tessier, M. Petrucci, M.-L. Trouvé et al., “A family-based study of metabolic phenotypes in calcium urolithiasis,” Kidney International, vol. 60, no. 3, pp. 1141–1147, 2001. View at Publisher · View at Google Scholar · View at Scopus
  11. S.-G. Wang, D.-L. Hu, Q.-L. Xi et al., “Expression of Calbindin-D28k in genetic hypercalciuric stone-forming rats kidney and its role in pathogenesis of idiopathic hypercalciuria,” Zhonghua Yi Xue Za Zhi, vol. 88, no. 20, pp. 1422–1424, 2008. View at Google Scholar · View at Scopus
  12. V. Yoon, B. Adams-Huet, K. Sakhaee, and N. M. Maalouf, “Hyperinsulinemia and urinary calcium excretion in calcium stone formers with idiopathic hypercalciuria,” Journal of Clinical Endocrinology and Metabolism, vol. 98, no. 6, pp. 2589–2594, 2013. View at Publisher · View at Google Scholar · View at Scopus
  13. Y.-H. Chou, P. Y. Woon, W.-C. Chen et al., “A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis,” PLoS ONE, vol. 6, no. 9, Article ID e25227, 2011. View at Publisher · View at Google Scholar · View at Scopus
  14. N. Shakhssalim, B. Kazemi, A. Basiri et al., “Association between calcium-sensing receptor gene polymorphisms and recurrent calcium kidney stone disease: a comprehensive gene analysis,” Scandinavian Journal of Urology and Nephrology, vol. 44, no. 6, pp. 406–412, 2010. View at Publisher · View at Google Scholar · View at Scopus
  15. Y.-H. Chou, S.-H. H. Juo, Y.-C. Chiu et al., “A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis,” The Journal of Urology, vol. 185, no. 5, pp. 1742–1746, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. M. J. Favus, A. J. Karnauskas, J. H. Parks, and F. L. Coe, “Peripheral blood monocyte vitamin D receptor levels are elevated in patients with idiopathic hypercalciuria,” Journal of Clinical Endocrinology and Metabolism, vol. 89, no. 10, pp. 4937–4943, 2004. View at Publisher · View at Google Scholar · View at Scopus
  17. C.-C. Liu, C.-H. Huang, W.-J. Wu et al., “Association of vitamin D receptor (Fok-I) polymorphism with the clinical presentation of calcium urolithiasis,” BJU International, vol. 99, no. 6, pp. 1534–1538, 2007. View at Publisher · View at Google Scholar · View at Scopus
  18. J. G. J. Hoenderop, J. P. T. M. Van Leeuwen, B. C. J. Van Der Eerden et al., “Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5,” Journal of Clinical Investigation, vol. 112, no. 12, pp. 1906–1914, 2003. View at Publisher · View at Google Scholar · View at Scopus
  19. T. Na, W. Zhang, Y. Jiang et al., “The A563T variation of the renal epithelial calcium channel TRPV5 among African Americans enhances calcium influx,” The American Journal of Physiology—Renal Physiology, vol. 296, no. 5, pp. F1042–F1051, 2009. View at Publisher · View at Google Scholar · View at Scopus
  20. D. Müller, J. G. J. Hoenderop, R. Vennekens et al., “Epithelial Ca2+ channel (ECAC1) in autosomal dominant idiopathic hypercalciuria,” Nephrology Dialysis Transplantation, vol. 17, no. 9, pp. 1614–1620, 2002. View at Publisher · View at Google Scholar · View at Scopus
  21. S. Wang, D. Hu, Q. Xi et al., “The expression and implication of TRPV5, calbindin-D28k and NCX1 in idiopathic hypercalciuria,” Journal of Huazhong University of Science and Technology—Medical Science, vol. 28, no. 5, pp. 580–583, 2008. View at Publisher · View at Google Scholar · View at Scopus
  22. T. Nijenhuis, J. G. J. Hoenderop, A. W. C. M. van der Kemp, and R. J. M. Bindels, “Localization and regulation of the epithelial Ca2+ channel TRPV6 in the kidney,” Journal of the American Society of Nephrology, vol. 14, no. 11, pp. 2731–2740, 2003. View at Publisher · View at Google Scholar · View at Scopus
  23. J.-B. Peng, “TRPV5 and TRPV6 in transcellular Ca2+ transport: regulation, gene duplication, and polymorphisms in African populations,” Advances in Experimental Medicine and Biology, vol. 704, pp. 239–275, 2011. View at Publisher · View at Google Scholar · View at Scopus
  24. V. M. Radhakrishnan, R. Ramalingam, C. B. Larmonier et al., “Post-translational loss of renal trpv5 calcium channel expression, Ca2+ wasting, and bone loss in experimental colitis,” Gastroenterology, vol. 145, no. 3, pp. 613–624, 2013. View at Publisher · View at Google Scholar · View at Scopus
  25. K. Y. Renkema, K. Lee, C. N. Topala et al., “TRPV5 gene polymorphisms in renal hypercalciuria,” Nephrology Dialysis Transplantation, vol. 24, no. 6, pp. 1919–1924, 2009. View at Publisher · View at Google Scholar · View at Scopus
  26. W.-C. Kan, Y.-H. Chou, S.-J. Chiu et al., “Study of the association between ITPKC genetic polymorphisms and calcium nephrolithiasis,” BioMed Research International, vol. 2014, Article ID 397826, 6 pages, 2014. View at Publisher · View at Google Scholar · View at Scopus
  27. C. W. Schmidt, “HapMap: building a database with blocks,” EHP Toxicogenomics, vol. 111, no. 1, p. A16, 2003. View at Google Scholar · View at Scopus
  28. R. C. Gentleman, V. J. Carey, D. M. Bates et al., “Bioconductor: open software development for computational biology and bioinformatics,” Genome biology, vol. 5, article R80, 2004. View at Publisher · View at Google Scholar · View at Scopus
  29. R Development Core Team, R: A Language and Environment for Statistical Computing, The R Foundation for Statistical Computing, Vienna, Austria, 2014.
  30. S. Aruga and Y. Honma, “Renal calcium excretion and urolithiasis,” Clinical Calcium, vol. 21, no. 10, pp. 1465–1472, 2011. View at Google Scholar · View at Scopus
  31. A. E. Stevenson, W. G. Robertson, and P. Markwell, “Risk factor analysis and relative supersaturation as tools for identifying calcium oxalate stone-forming dogs,” Journal of Small Animal Practice, vol. 44, no. 11, pp. 491–496, 2003. View at Publisher · View at Google Scholar · View at Scopus
  32. A. Trinchieri, “Epidemiology of urolithiasis,” Archivio Italiano di Urologia, Andrologia, vol. 68, no. 4, pp. 203–249, 1996. View at Google Scholar
  33. M. Marangella, P. G. Daniele, M. Ronzani, S. Sonego, and F. Linari, “Urine saturation with calcium salts in normal subjects and idiopathic calcium stone-formers estimated by an improved computer model system,” Urological Research, vol. 13, no. 4, pp. 189–193, 1985. View at Publisher · View at Google Scholar · View at Scopus
  34. B. T. Murphy and L. N. Pyrah, “The composition, structure, and mechanisms of the formation of urinary calculi,” British Journal of Urology, vol. 34, pp. 129–159, 1962. View at Publisher · View at Google Scholar · View at Scopus
  35. G. C. Curhan, W. C. Willett, E. B. Rimm, and M. J. Stampfer, “Family history and risk of kidney stones,” Journal of the American Society of Nephrology, vol. 8, no. 10, pp. 1568–1573, 1997. View at Google Scholar · View at Scopus
  36. M. Jaggi, Y. Nakagawa, L. Zipperle, and B. Hess, “Tamm-Horsfall protein in recurrent calcium kidney stone formers with positive family history: abnormalities in urinary excretion, molecular structure and function,” Urological Research, vol. 35, no. 2, pp. 55–62, 2007. View at Publisher · View at Google Scholar · View at Scopus
  37. G. Vezzoli, A. Terranegra, T. Arcidiacono, and L. Soldati, “Genetics and calcium nephrolithiasis,” Kidney International, vol. 80, no. 6, pp. 587–593, 2011. View at Publisher · View at Google Scholar · View at Scopus
  38. S. Boros, R. J. M. Bindels, and J. G. J. Hoenderop, “Active Ca2+ reabsorption in the connecting tubule,” Pflugers Archiv European Journal of Physiology, vol. 458, no. 1, pp. 99–109, 2009. View at Publisher · View at Google Scholar · View at Scopus
  39. T. Na and J. B. Peng, “TRPV5: a Ca2+ channel for the fine-tuning of Ca2+ reabsorption,” in Handbook of Experimental Pharmacology, vol. 222, pp. 321–357, Springer, 2014. View at Publisher · View at Google Scholar
  40. N. Y. Loh, L. Bentley, H. Dimke et al., “Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5,” PLoS ONE, vol. 8, no. 1, Article ID e55412, 2013. View at Publisher · View at Google Scholar · View at Scopus
  41. C. M. O'Seaghdha, H. Wu, Q. Yang et al., “Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations,” PLoS Genetics, vol. 9, no. 9, Article ID e1003796, 2013. View at Publisher · View at Google Scholar
  42. C. M. O'Seaghdha, Q. Yang, N. L. Glazer et al., “Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels,” Human Molecular Genetics, vol. 19, no. 21, Article ID ddq342, pp. 4296–4303, 2010. View at Publisher · View at Google Scholar · View at Scopus