Table of Contents
ISRN Endocrinology
Volume 2013, Article ID 427818, 5 pages
http://dx.doi.org/10.1155/2013/427818
Clinical Study

Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus

1Department of Biochemistry and Clinical Chemistry, Medical University of Warsaw, 02-097 Warsaw, Poland
2Department of Dermatology and Venereology, Medical University of Lodz, 94-017 Lodz, Poland
3Department of Pharmacogenomics, Medical University of Warsaw, 02-097 Warsaw, Poland

Received 13 May 2013; Accepted 7 June 2013

Academic Editors: J. Pachucki, J. A. Rillema, and H. Tamemoto

Copyright © 2013 Beata Kaleta 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. H.-S. Lee and S.-C. Bae, “What can we learn from genetic studies of systemic lupus erythematosus? Implications of genetic heterogeneity among populations in SLE,” Lupus, vol. 19, no. 12, pp. 1452–1459, 2010. View at Publisher · View at Google Scholar · View at Scopus
  2. K. L. Moser, J. A. Kelly, C. J. Lessard, and J. B. Harley, “Recent insights into the genetic basis of systemic lupus erythematosus,” Genes and Immunity, vol. 10, no. 5, pp. 373–379, 2009. View at Publisher · View at Google Scholar · View at Scopus
  3. D. Bikle, “Nonclassic actions of vitamin D,” Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 1, pp. 26–34, 2009. View at Publisher · View at Google Scholar · View at Scopus
  4. A. Verstuyf, G. Carmeliet, R. Bouillon, and C. Mathieu, “Vitamin D: a pleiotropic hormone,” Kidney International, vol. 78, no. 2, pp. 140–145, 2010. View at Publisher · View at Google Scholar · View at Scopus
  5. K.-I. Miyamoto, R. A. Kesterson, H. Yamamoto et al., “Structural organization of the human vitamin D receptor chromosomal gene and its promoter,” Molecular Endocrinology, vol. 11, no. 8, pp. 1165–1179, 1997. View at Publisher · View at Google Scholar · View at Scopus
  6. 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 · View at Scopus
  7. H. Arai, K.-I. Miyamoto, Y. Taketani et al., “A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women,” Journal of Bone and Mineral Research, vol. 12, no. 6, pp. 915–921, 1997. View at Publisher · View at Google Scholar · View at Scopus
  8. G. K. Whitfield, L. S. Remus, P. W. Jurutka et al., “Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene,” Molecular and Cellular Endocrinology, vol. 177, no. 1-2, pp. 145–159, 2001. View at Publisher · View at Google Scholar · View at Scopus
  9. E. van Etten, L. Verlinden, A. Giulietti et al., “The vitamin D receptor gene FokI polymorphism: functional impact on the immune system,” European Journal of Immunology, vol. 37, no. 2, pp. 395–405, 2007. View at Publisher · View at Google Scholar · View at Scopus
  10. L. A. Crofts, N. A. Morrison, N. Dudman, and J. A. Eisman, “Differential expression of VDR gene alleles,” Journal of Bone and Mineral Research, vol. 11, supplement 1, p. S208, 1996. View at Google Scholar
  11. F. Baeke, H. Korf, L. Overbergh et al., “Human T lymphocytes are direct targets of 1,25-dihydroxyvitamin D3 in the immune system,” Journal of Steroid Biochemistry and Molecular Biology, vol. 121, no. 1-2, pp. 221–227, 2010. View at Publisher · View at Google Scholar · View at Scopus
  12. 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 Google Scholar · View at Scopus
  13. J. Tang, R. Zhou, D. Luger et al., “Calcitriol suppresses antiretinal autoimmunity through inhibitory effects on the Th17 effector response,” Journal of Immunology, vol. 182, no. 8, pp. 4624–4632, 2009. View at Publisher · View at Google Scholar · View at Scopus
  14. L. E. Jeffery, F. Burke, M. Mura et al., “1,25-Dihydroxyvitamin D3 and IL-2 combine to inhibit T cell production of inflammatory cytokines and promote development of regulatory T cells expressing CTLA-4 and FoxP3,” Journal of Immunology, vol. 183, no. 9, pp. 5458–5467, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. B. D. Mahon, A. Wittke, V. Weaver, and M. T. Cantorna, “The targets of vitamin D depend on the differentiation and activation status of CD4 positive T cells,” Journal of Cellular Biochemistry, vol. 89, no. 5, pp. 922–932, 2003. View at Publisher · View at Google Scholar · View at Scopus
  16. S. Chen, G. P. Sims, X. C. Xiao, Y. G. Yue, S. Chen, and P. E. Lipsky, “Modulatory effects of 1,25-dihydroxyvitamin D3 on human B cell differentiation,” Journal of Immunology, vol. 179, no. 3, pp. 1634–1647, 2007. View at Google Scholar · View at Scopus
  17. A.-K. Shirakawa, D. Nagakubo, K. Hieshima, T. Nakayama, Z. Jin, and O. Yoshie, “1,25-Dihydroxyvitamin D3 induces CCR10 expression in terminally differentiating human B cells,” Journal of Immunology, vol. 180, no. 5, pp. 2786–2795, 2008. View at Google Scholar · View at Scopus
  18. H. Xu, A. Soruri, R. K. H. Gieseler, and J. H. Peters, “1,25-Dihydroxyvitamin D3 exerts opposing effects to IL-4 on MHC class-II antigen expression, accessory activity, and phagocytosis of human monocytes,” Scandinavian Journal of Immunology, vol. 38, no. 6, pp. 535–540, 1993. View at Publisher · View at Google Scholar · View at Scopus
  19. G. Penna and L. Adorini, “1α,25-dihydroxyvitamin D3 inhibits differentiation, maturation, activation, and survival of dendritic cells leading to impaired alloreactive T cell activation,” Journal of Immunology, vol. 164, no. 5, pp. 2405–2411, 2000. View at Google Scholar · View at Scopus
  20. A. Berer, J. Stöckl, O. Majdic et al., “1,25-Dihydroxyvitamin D3 inhibits dendritic cell differentiation and maturation in vitro,” Experimental Hematology, vol. 28, no. 5, pp. 575–583, 2000. View at Publisher · View at Google Scholar · View at Scopus
  21. M. C. Gauzzi, C. Purificato, K. Donato et al., “Suppressive effect of 1α,25-dihydroxyvitamin D3 on type I IFN-mediated monocyte differentiation into dendritic cells: impairment of functional activities and chemotaxis,” Journal of Immunology, vol. 174, no. 1, pp. 270–276, 2005. View at Google Scholar · View at Scopus
  22. D. M. Provvedini, C. D. Tsoukas, L. J. Deftos, and S. C. Manolagas, “1,25-Dihydroxyvitamin D3 receptors in human leukocytes,” Science, vol. 221, no. 4616, pp. 1181–1183, 1983. View at Google Scholar · View at Scopus
  23. C. M. Veldman, M. T. Cantorna, and H. F. DeLuca, “Expression of 1,25-dihydroxyvitamin D3 receptor in the immune system,” Archives of Biochemistry and Biophysics, vol. 374, no. 2, pp. 334–338, 2000. View at Publisher · View at Google Scholar · View at Scopus
  24. S.-W. Guo, V. L. Magnuson, J. J. Schiller, X. Wang, Y. Wu, and S. Ghosh, “Meta-analysis of vitamin D receptor polymorphisms and type 1 diabetes: a HuGE review of genetic association studies,” American Journal of Epidemiology, vol. 164, no. 8, pp. 711–724, 2006. View at Publisher · View at Google Scholar · View at Scopus
  25. D. B. Mory, E. R. Rocco, W. L. Miranda, T. Kasamatsu, F. Crispim, and S. A. Dib, “Prevalence of vitamin D receptor gene polymorphisms FokI and BsmI in Brazilian individuals with type 1 diabetes and their relation to β-cell autoimmunity and to remaining β-cell function,” Human Immunology, vol. 70, no. 6, pp. 447–451, 2009. View at Publisher · View at Google Scholar · View at Scopus
  26. B. Littorin, P. Blom, A. Schölin et al., “Lower levels of plasma 25-hydroxyvitamin D among young adults at diagnosis of autoimmune type 1 diabetes compared with control subjects: results from the nationwide Diabetes Incidence Study in Sweden (DISS),” Diabetologia, vol. 49, no. 12, pp. 2847–2852, 2006. View at Publisher · View at Google Scholar · View at Scopus
  27. E. Sundqvist, M. Bäärnhielm, L. Alfredsson, J. Hillert, T. Olsson, and I. Kockum, “Confirmation of association between multiple sclerosis and CYP27B1,” European Journal of Human Genetics, vol. 18, no. 12, pp. 1349–1352, 2010. View at Publisher · View at Google Scholar · View at Scopus
  28. C. E. Hayes, M. T. Cantorna, and H. F. DeLuca, “Vitamin D and multiple sclerosis,” Experimental Biology and Medicine, vol. 216, no. 1, pp. 21–27, 1997. View at Google Scholar · View at Scopus
  29. K. L. Munger, L. I. Levin, B. W. Hollis, N. S. Howard, and A. Ascherio, “Serum 25-hydroxyvitamin D levels and risk of multiple sclerosis,” Journal of the American Medical Association, vol. 296, no. 23, pp. 2832–2838, 2006. View at Publisher · View at Google Scholar · View at Scopus
  30. J. Smolders, P. Menheere, A. Kessels, J. Damoiseaux, and R. Hupperts, “Association of vitamin D metabolite levels with relapse rate and disability in multiple sclerosis,” Multiple Sclerosis, vol. 14, no. 9, pp. 1220–1224, 2008. View at Publisher · View at Google Scholar · View at Scopus
  31. C. Gómez-Vaquero, J. Fiter, A. Enjuanes, X. Nogués, A. Díez-Pérez, and J. M. Nolla, “Influence of the BsmI polymorphism of the vitamin D receptor gene on rheumatoid arthritis clinical activity,” Journal of Rheumatology, vol. 34, no. 9, pp. 1823–1826, 2007. View at Google Scholar · View at Scopus
  32. Y. H. Lee, S.-C. Bae, S. J. Choi, J. D. Ji, and G. G. Song, “Associations between vitamin D receptor polymorphisms and susceptibility to rheumatoid arthritis and systemic lupus erythematosus: a meta-analysis,” Molecular Biology Reports, vol. 38, no. 6, pp. 3643–3651, 2011. View at Publisher · View at Google Scholar · View at Scopus
  33. A. Maalej, E. Petit-Teixeira, L. Michou, A. Rebai, F. Cornelis, and H. Ayadi, “Association study of VDR gene with rheumatoid arthritis in the French population,” Genes and Immunity, vol. 6, no. 8, pp. 707–711, 2005. View at Publisher · View at Google Scholar · View at Scopus
  34. C.-M. Huang, M.-C. Wu, J.-Y. Wu, and F.-J. Tsai, “Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus,” Lupus, vol. 11, no. 1, pp. 31–34, 2002. View at Publisher · View at Google Scholar · View at Scopus
  35. D. L. Kamen, G. S. Cooper, H. Bouali, S. R. Shaftman, B. W. Hollis, and G. S. Gilkeson, “Vitamin D deficiency in systemic lupus erythematosus,” Autoimmunity Reviews, vol. 5, no. 2, pp. 114–117, 2006. View at Publisher · View at Google Scholar · View at Scopus
  36. J. D. Simmons, C. Mullighan, K. I. Welsh, and D. P. Jewell, “Vitamin D receptor gene polymorphism: association with Crohn's disease susceptibility,” Gut, vol. 47, no. 2, pp. 211–214, 2000. View at Publisher · View at Google Scholar · View at Scopus
  37. M. T. Cantorna, “Vitamin D and its role in immunology: multiple sclerosis, and inflammatory bowel disease,” Progress in Biophysics and Molecular Biology, vol. 92, no. 1, pp. 60–64, 2006. View at Publisher · View at Google Scholar · View at Scopus
  38. M. Froicu, V. Weaver, T. A. Wynn, M. A. McDowell, J. E. Welsh, and M. T. Cantorna, “A crucial role for the vitamin D receptor in experimental inflammatory bowel diseases,” Molecular Endocrinology, vol. 17, no. 12, pp. 2386–2392, 2003. View at Publisher · View at Google Scholar · View at Scopus
  39. A. H. Poon, C. Laprise, M. Lemire et al., “Association of vitamin D receptor genetic variants with susceptibility to asthma and atopy,” American Journal of Respiratory and Critical Care Medicine, vol. 170, no. 9, pp. 967–973, 2004. View at Publisher · View at Google Scholar · View at Scopus
  40. C. Vollmert, T. Illig, J. Altmüller et al., “Single nucleotide polymorphism screening and association analysis—exclusion of integrin β7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma,” Clinical and Experimental Allergy, vol. 34, no. 12, pp. 1841–1850, 2004. View at Publisher · View at Google Scholar · View at Scopus
  41. Y. Ozaki, S. Nomura, M. Nagahama, C. Yoshimura, H. Kagawa, and S. Fukuhara, “Vitamin-D receptor genotype and renal disorder in Japanese patients with systemic lupus erythematosus,” Nephron, vol. 85, no. 1, pp. 86–91, 2000. View at Google Scholar · View at Scopus
  42. C.-M. Huang, M.-C. Wu, J.-Y. Wu, and F.-J. Tsai, “No association of vitamin D receptor gene start codon Fok I polymorphisms in Chinese patients with systemic lupus erythematosus,” Journal of Rheumatology, vol. 29, no. 6, pp. 1211–1213, 2002. View at Google Scholar · View at Scopus
  43. E. M. Tan, A. S. Cohen, and J. F. Fries, “The 1982 revised criteria for the classification of systemic lupus erythrematosus,” Arthritis and Rheumatism, vol. 25, no. 11, pp. 1271–1277, 1982. View at Google Scholar · View at Scopus
  44. A. Mostowska, M. Lianeri, M. Wudarski, M. Olesin'ska, and P. P. Jagodziński, “Vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus,” Molecular Biology Reports, vol. 40, no. 2, pp. 803–810, 2013. View at Google Scholar
  45. O. A. Monticielo, J. C. T. Brenol, J. A. B. Chies et al., “The role of BsmI and FokI vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D in Brazilian patients with systemic lupus erythematosus,” Lupus, vol. 21, no. 1, pp. 43–52, 2012. View at Publisher · View at Google Scholar · View at Scopus
  46. W. Sakulpipatsin, O. Verasertniyom, K. Nantiruj, K. Totemchokchyakarn, P. Lertsrisatit, and S. Janwityanujit, “Vitamin D receptor gene BsmI polymorphisms in Thai patients with systemic lupus erythematosus,” Arthritis Research and Therapy, vol. 8, no. 2, article R48, 2006. View at Publisher · View at Google Scholar · View at Scopus