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Gastroenterology Research and Practice
Volume 2012 (2012), Article ID 408723, 8 pages
http://dx.doi.org/10.1155/2012/408723
Research Article

Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population

1Medical Biology Laboratory, Pomeranian Medical University, Szczecin, Poland
2Liver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, Poland
3Department of Neonatal Diseases, Pomeranian Medical University, Szczecin, Poland
4Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, Poland

Received 2 January 2012; Accepted 6 February 2012

Academic Editor: P. Gionchetti

Copyright © 2012 Agnieszka Kempińska-Podhorecka 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. J. Neuberger, “Primary biliary cirrhosis,” The Lancet, vol. 350, no. 9081, pp. 875–879, 1997. View at Publisher · View at Google Scholar
  2. M. M. Kaplan and M. E. Gershwin, “Primary biliary cirrhosis,” The New England Journal of Medicine, vol. 353, no. 12, pp. 1261–1273, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. R. E. Poupon, K. D. Lindor, A. Parés, O. Chazouillères, R. Poupon, and E. J. Heathcote, “Combined analysis of the effect of treatment with ursodeoxycholic acid on histologic progression in primary biliary cirrhosis,” Journal of Hepatology, vol. 39, no. 1, pp. 12–16, 2003. View at Publisher · View at Google Scholar · View at Scopus
  4. M. E. Gershwin, I. R. Mackay, A. Sturgess, and R. L. Coppel, “Identification and specificity of a cDNA encoding the 70 KD mitochondrial antigen recognized in primary biliary cirrhosis,” Journal of Immunology, vol. 138, no. 10, pp. 3525–3531, 1987. View at Scopus
  5. P. Milkiewicz, H. Buwaneswaran, C. Coltescu, Z. Shums, G. L. Norman, and E. J. Heathcote, “Value of autoantibody analysis in the differential diagnosis of chronic cholestatic liver disease,” Clinical Gastroenterology and Hepatology, vol. 7, no. 12, pp. 1355–1360, 2009. View at Publisher · View at Google Scholar · View at Scopus
  6. C. Selmi, M. J. Mayo, N. Bach et al., “Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment,” Gastroenterology, vol. 127, no. 2, pp. 485–492, 2004. View at Publisher · View at Google Scholar · View at Scopus
  7. P. Invernizzi, C. Selmi, F. Poli et al., “Human leukocyte antigen polymorphisms in Italian primary biliary cirrhosis: a multicenter study of 664 patients and 1992 healthy controls,” Hepatology, vol. 48, no. 6, pp. 1906–1912, 2008. View at Publisher · View at Google Scholar · View at Scopus
  8. G. M. Hirschfield, X. Liu, C. Xu et al., “Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants,” The New England Journal of Medicine, vol. 360, no. 24, pp. 2544–2555, 2009. View at Publisher · View at Google Scholar · View at Scopus
  9. G. M. Hirschfield, X. Liu, Y. Han et al., “Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis,” Nature Genetics, vol. 42, no. 8, pp. 655–657, 2010. View at Publisher · View at Google Scholar · View at Scopus
  10. X. Liu, P. Invernizzi, Y. Lu et al., “Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis,” Nature Genetics, vol. 42, no. 8, pp. 658–660, 2010. View at Publisher · View at Google Scholar · View at Scopus
  11. G. F. Mells, J. A. Floyd, K. I. Morley et al., “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis,” Nature genetics, vol. 43, no. 4, pp. 329–332, 2011. View at Publisher · View at Google Scholar
  12. E. Peelen, S. Knippenberg, A. H. Muris et al., “Effects of vitamin D on the peripheral adaptive immune system: a review,” Autoimmunity Reviews, vol. 10, no. 12, pp. 733–743, 2011. View at Publisher · View at Google Scholar
  13. M. Cutolo, C. Pizzorni, and A. Sulli, “Vitamin D endocrine system involvement in autoimmune rheumatic diseases,” Autoimmunity Reviews, vol. 11, no. 2, pp. 84–87, 2011. View at Publisher · View at Google Scholar
  14. Y. Arnson, H. Amital, N. Agmon-Levin et al., “Serum 25-OH vitamin D concentrations are linked with various clinical aspects in patients with systemic sclerosis: a retrospective cohort study and review of the literature,” Autoimmunity Reviews, vol. 10, no. 8, pp. 490–494, 2011. View at Publisher · View at Google Scholar
  15. C. F. Pelajo, J. M. Lopez-Benitez, and L. C. Miller, “Vitamin D and autoimmune rheumatologic disorders,” Autoimmunity Reviews, vol. 9, no. 7, pp. 507–510, 2010. View at Publisher · View at Google Scholar · View at Scopus
  16. H. Amital, Z. Szekanecz, G. Szücs et al., “Serum concentrations of 25-OH vitamin D in patients with systemic lupus erythematosus (SLE) are inversely related to disease activity: is it time to routinely supplement patients with SLE with vitamin D?” Annals of the Rheumatic Diseases, vol. 69, no. 6, pp. 1155–1157, 2010. View at Publisher · View at Google Scholar · View at Scopus
  17. A. Hajas, J. Sandor, L. Csathy et al., “Vitamin D insufficiency in a large MCTD population,” Autoimmunity Reviews, vol. 10, no. 6, pp. 317–324, 2011. View at Publisher · View at Google Scholar · View at Scopus
  18. J. C. Souberbielle, J. J. Body, J. M. Lappe et al., “Vitamin D and musculoskeletal health, cardiovascular disease, autoimmunity and cancer: recommendations for clinical practice,” Autoimmunity Reviews, vol. 9, no. 11, pp. 709–715, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. L. Adorini and G. Penna, “Control of autoimmune diseases by the vitamin D endocrine system,” Nature Clinical Practice Rheumatology, vol. 4, no. 8, pp. 404–412, 2008. View at Publisher · View at Google Scholar · View at Scopus
  20. M. F. Holick, “Vitamin D deficiency,” The New England Journal of Medicine, vol. 357, no. 3, pp. 266–281, 2007.
  21. W. B. Grant, “Epidemiology of disease risks in relation to vitamin D insufficiency,” Progress in Biophysics and Molecular Biology, vol. 92, no. 1, pp. 65–79, 2006. View at Publisher · View at Google Scholar · View at Scopus
  22. A. W. Norman, “From vitamin D to hormone D: fundamentals of the vitamin D endocrine system essential for good health,” American Journal of Clinical Nutrition, vol. 88, no. 2, pp. 491S–499S, 2008. View at Scopus
  23. C. Carlberg, “Current understanding of the function of the nuclear vitamin D receptor in response to its natural and synthetic ligands,” Recent Results in Cancer Research, vol. 164, pp. 29–42, 2003. View at Scopus
  24. N. A. Morrison, J. C. Qi, A. Tokita et al., “Prediction of bone density from vitamin D receptor alleles,” Nature, vol. 367, no. 6460, pp. 284–287, 1994. View at Publisher · View at Google Scholar · View at Scopus
  25. N. A. Morrison, R. Yeoman, P. J. Kelly, and J. A. Eisman, “Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphisms and circulating osteocalcin,” Proceedings of the National Academy of Sciences of the United States of America, vol. 89, no. 15, pp. 6665–6669, 1992. View at Publisher · View at Google Scholar · View at Scopus
  26. J. H. Faraco, N. A. Morrison, A. Baker, J. Shine, and P. M. Frossard, “ApaI dimorphism at the human vitamin D receptor gene locus,” Nucleic Acids Research, vol. 17, no. 5, p. 2150, 1989. View at Scopus
  27. A. Tanaka, S. Nezu, S. Uegaki et al., “Vitamin D receptor polymorphisms are associated with increased susceptibility to primary biliary cirrhosis in Japanese and Italian populations,” Journal of Hepatology, vol. 50, no. 6, pp. 1202–1209, 2009. View at Publisher · View at Google Scholar · View at Scopus
  28. L. Fan, X. Tu, Y. Zhu et al., “Genetic association of vitamin D receptor polymorphisms with autoimmune hepatitis and primary biliary cirrhosis in the Chinese,” Journal of Gastroenterology and Hepatology, vol. 20, no. 2, pp. 249–255, 2005. View at Publisher · View at Google Scholar · View at Scopus
  29. A. Vogel, C. P. Strassburg, and M. P. Manns, “Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis,” Hepatology, vol. 35, no. 1, pp. 126–131, 2002. View at Publisher · View at Google Scholar · View at Scopus
  30. B. Halmos, F. Szalay, T. Cserniczky et al., “Association of primary biliary cirrhosis with vitamin D receptor BsmI genotype polymorphism in a Hungarian population,” Digestive Diseases and Sciences, vol. 45, no. 6, pp. 1091–1095, 2000. View at Publisher · View at Google Scholar · View at Scopus
  31. European Association for the Study of the Liver, “EASL clinical practice guidelines: management of cholestatic liver diseases,” Journal of Hepatology, vol. 51, no. 2, pp. 237–267, 2009. View at Publisher · View at Google Scholar · View at Scopus
  32. A. Vogel, C. P. Strassburg, and M. P. Manns, “Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis,” Hepatology, vol. 35, no. 1, pp. 126–131, 2002. View at Publisher · View at Google Scholar · View at Scopus
  33. L. Fan, X. Tu, Y. Zhu et al., “Genetic association of vitamin D receptor polymorphisms with autoimmune hepatitis and primary biliary cirrhosis in the Chinese,” Journal of Gastroenterology and Hepatology, vol. 20, no. 2, pp. 249–255, 2005. View at Publisher · View at Google Scholar · View at Scopus
  34. B. Halmos, F. Szalay, T. Cserniczky et al., “Association of primary biliary cirrhosis with vitamin D receptor BsmI genotype polymorphism in a Hungarian population,” Digestive Diseases and Sciences, vol. 45, no. 6, pp. 1091–1095, 2000. View at Publisher · View at Google Scholar · View at Scopus
  35. J. E. Springer, D. E. Cole, L. A. Rubin et al., “Vitamin D-receptor genotypes as independent genetic predictors of decreased bone mineral density in primary biliary cirrhosis,” Gastroenterology, vol. 118, no. 1, pp. 145–151, 2000. View at Scopus
  36. A. Parés, N. Guañabens, and J. Rodés, “Gene polymorphisms as predictors of decreased bone mineral density and osteoporosis in primary biliary cirrhosis,” European Journal of Gastroenterology and Hepatology, vol. 17, no. 3, pp. 311–315, 2005. View at Publisher · View at Google Scholar
  37. A. G. Uitterlinden, Y. Fang, J. B. J. van Meurs, H. A. P. Pols, and J. P. T. M. Van Leeuwen, “Genetics and biology of vitamin D receptor polymorphisms,” Gene, vol. 338, no. 2, pp. 143–156, 2004. View at Publisher · View at Google Scholar
  38. M. T. Cantorna, W. D. Woodward, C. E. Hayes, and H. F. DeLuca, “1,25-dihydroxyvitamin D3 is a positive regulator for the two anti- encephalitogenic cytokines TGF-β1 and IL-4,” Journal of Immunology, vol. 160, no. 11, pp. 5314–5319, 1998. View at Scopus
  39. A. Boonstra, F. J. Barrat, C. Crain, V. L. Heath, H. F. J. Savelkoul, and A. O'Garra, “1α,25-dihydroxyvitamin D3 has a direct effect on naive CD4+ T cells to enhance the development of Th2 cells,” Journal of Immunology, vol. 167, no. 9, pp. 4974–4980, 2001. View at Scopus
  40. J. M. Lemire, D. C. Archer, L. Beck, and H. L. Spiegelberg, “Immunosuppressive actions of 1,25-dihydroxyvitamin D3: preferential inhibition of Th1 functions,” Journal of Nutrition, vol. 125, supplement 6, pp. 1704S–1708S, 1995. View at Scopus
  41. M. Willheim, R. Thien, K. Schrattbauer et al., “Regulatory effects of 1α,25-dihydroxyvitamin D3 on the cytokine production of human peripheral blood lymphocytes,” Journal of Clinical Endocrinology and Metabolism, vol. 84, no. 10, pp. 3739–3744, 1999. View at Scopus
  42. M. Cippitelli and A. Santoni, “Vitamin D3: a transcriptional modulator of the interferon-γ gene,” European Journal of Immunology, vol. 28, no. 10, pp. 3017–3030, 1998. View at Publisher · View at Google Scholar · View at Scopus
  43. K. Harada and Y. Nakanuma, “Biliary innate immunity and cholangiopathy,” Hepatology Research, vol. 37, supplement 3, pp. S430–S437, 2007. View at Publisher · View at Google Scholar · View at Scopus
  44. J. M. Ridlon, D. J. Kang, and P. B. Hylemon, “Bile salt biotransformations by human intestinal bacteria,” Journal of Lipid Research, vol. 47, no. 2, pp. 241–259, 2006. View at Publisher · View at Google Scholar · View at Scopus
  45. M. Makishima, T. T. Lu, W. Xie et al., “Vitamin D receptor as an intestinal bile acid sensor,” Science, vol. 296, no. 5571, pp. 1313–1316, 2002. View at Publisher · View at Google Scholar · View at Scopus
  46. S. E. McGarr, J. M. Ridlon, and P. B. Hylemon, “Diet, anaerobic bacterial metabolism, and colon cancer: a review of the literature,” Journal of Clinical Gastroenterology, vol. 39, no. 2, pp. 98–109, 2005. View at Scopus
  47. M. Gascon-Barré, C. Demers, A. Mirshahi, S. Néron, S. Zalzal, and A. Nanci, “The normal liver harbors the vitamin D nuclear receptor in nonparenchymal and biliary epithelial cells,” Hepatology, vol. 37, no. 5, pp. 1034–1042, 2003. View at Publisher · View at Google Scholar · View at Scopus