Vitamin D and polymorphisms of VDR gene in patients with systemic lupus erythematosus

Clinical Rheumatology

Volumn 31, Issue 10, 2012, Pages 1411-1421

  Monticielo, Odirlei André ^a   Teixeira, Thaisa De Mattos ^a   Chies, José Artur Bogo ^a   Brenol, João Carlos Tavares ^a   Xavier, Ricardo Machado ^a  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

25 Hydroxyvitamin D; Genetics and immunology; Systemic lupus erythematosus; VDR gene polymorphisms; Vitamin D; Vitamin D receptor

Indexed keywords

24,25 DIHYDROXYVITAMIN D; CALCITRIOL; CATHELICIDIN; GAMMA INTERFERON; INTERLEUKIN 10; INTERLEUKIN 12; INTERLEUKIN 17; INTERLEUKIN 2; INTERLEUKIN 23; INTERLEUKIN 4; INTERLEUKIN 5; MESSENGER RNA; NUCLEOSOME ANTIBODY; RETINOIC ACID RECEPTOR; T LYMPHOCYTE RECEPTOR; THYROTROPIN; TRANSFORMING GROWTH FACTOR BETA1; VITAMIN D; VITAMIN D RECEPTOR;

3' UNTRANSLATED REGION; AMINO ACID SUBSTITUTION; ANTIBODY PRODUCTION; AUTOCRINE EFFECT; AUTOIMMUNITY; B LYMPHOCYTE DIFFERENTIATION; CALCIUM HOMEOSTASIS; CELL MATURATION; CELL MIGRATION; DISEASE ACTIVITY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; ENZYME ACTIVITY; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HYDROXYLATION; IMMUNOREGULATION; LYMPHOCYTE PROLIFERATION; META ANALYSIS (TOPIC); MYCOBACTERIUM TUBERCULOSIS; NONHUMAN; PARACRINE SIGNALING; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN SYNTHESIS; RANDOMIZED CONTROLLED TRIAL (TOPIC); REGULATORY T LYMPHOCYTE; REVIEW; STATISTICAL SIGNIFICANCE; SYSTEMIC LUPUS ERYTHEMATOSUS; VITAMIN D DEFICIENCY; VITAMIN METABOLISM;

AUTOIMMUNE DISEASES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; POLYMORPHISM, GENETIC; RECEPTORS, CALCITRIOL; RISK FACTORS; VITAMIN D; VITAMIN D DEFICIENCY;

EID: 84872147081     PISSN: 07703198     EISSN: 14349949     Source Type: Journal    
DOI: 10.1007/s10067-012-2021-5     Document Type: Review

References (75)

1. Oliveira NMP, Lemos MC (2010) Papel da vitamina D na susceptibilidade para a Diabetes Mellitus tipo 1. Dissertação de Mestrado Integrado em Medicina Universidade da Beira Interior, Covilha
2. DeLuca HF (2004) Overview of general physiologic features and functions of vitamin D. Am J Clin Nutr 80(6 Suppl):1689S-1696S
3. Holick MF (2007) Vitamin D deficiency. N Engl J Med 357 (3):266-281
4. Premaor MO, Furlanetto TW (2006) Hipovitaminose D em adultos: entendendo melhor a apresentação de uma velha doença. Arquivos Brasileiros de Endocrinologia 50(1):25-37 (Pubitemid 43748318)
5. Valdivielso JM, Fernandez E (2006) Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 371(1-2):1-12 (Pubitemid 44162891)
6. Dusso AS, Brown AJ, Vitamin SE (2005) Vitamin D. Am J Physiol Renal Physiol 289(1):F8-F28 (Pubitemid 40863568)
7. 3 1alpha-hydroxylase and vitamin D synthesis. Science 277(5333):1827-1830
8. Kamen D, Aranow C (2008) Vitamin D in systemic lupus erythematosus. Curr Opin Rheumatol 20(5):532-537
9. Dawson-Hughes B, Heaney RP, Holick MF, Lips P, Meunier PJ, Vieth R (2005) Estimates of optimal vitamin D status. Osteoporos Int 16(7):713-716 (Pubitemid 40933586)
10. Bandeira F, Griz L, Dreyer P, Eufrazino C, Bandeira C, Freese E (2006) Vitamin D deficiency: a global perspective. Arq Bras Endocrinol Metabol 50(4):640-646 (Pubitemid 44786000)
11. Holick MF (2006) High prevalence of vitamin D inadequacy and implications for health. Mayo Clin Proc 81(3):353-373 (Pubitemid 43334631)
12. Bischoff-Ferrari HA, Giovannucci E, Willett WC, Dietrich T, Dawson-Hughes B (2006) Estimation of optimal serum concentrations of 25-hydroxyvitamin D for multiple health outcomes. Am J Clin Nutr 84(1):18-28 (Pubitemid 44699167)
13. Malabanan A, Veronikis IE, Holick MF (1998) Redefining vitamin D insufficiency. Lancet 351(9105):805-806 (Pubitemid 28112350)
14. Thomas MK, Lloyd-Jones DM, Thadhani RI, Shaw AC, Deraska DJ, Kitch BT et al (1998) Hypovitaminosis D in medical inpatients. N Engl J Med 338(12):777-783 (Pubitemid 28135983)
15. Ross AC, Manson JE, Abrams SA, Aloia JF, Brannon PM, Clinton SK et al (2011) The 2011 report on dietary reference intakes for calcium and vitamin D from the Institute of Medicine: what clinicians need to know. J Clin Endocrinol Metab 96(1):53-58
16. Cantorna MT, Mahon BD (2004) Mounting evidence for vitamin D as an environmental factor affecting autoimmune disease prevalence. Exp Biol Med (Maywood) 229(11):1136-1142 (Pubitemid 39602256)
17. Heaney RP, Holick MF (2011) Why the IOM recommendations for vitamin D are deficient. J Bone Miner Res 26(3):455-457
18. Slomski A (2011) IOM endorses vitamin D, calcium only for bone health, dispels deficiency claims. Jama 305(5):453-454, 6
19. Yamada S, Yamamoto K, Masuno H, Choi M (2001) Threedimensional structure-function relationship of vitamin D and vitamin D receptor model. Steroids 66(3-5):177-187 (Pubitemid 32143675)
20. Miyamoto K, Kesterson RA, Yamamoto H, Taketani Y, Nishiwaki E, Tatsumi S et al (1997) Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol Endocrinol 11(8):1165-1179 (Pubitemid 27278838)
21. Durrin LK, Haile RW, Ingles SA, Coetzee GA (1999) Vitamin D receptor 3′-untranslated region polymorphisms: lack of effect on mRNA stability. Biochim Biophys Acta 1453(3):311-320 (Pubitemid 29146155)
22. Decker CJ, Parker R (1995) Diversity of cytoplasmic functions for the 3′ untranslated region of eukaryotic transcripts. Curr Opin Cell Biol 7(3):386-392
23. Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, Van Leeuwen JP (2004) Genetics and biology of vitamin D receptor polymorphisms. Gene 338(2):143-156 (Pubitemid 39094759)
24. Morrison NA, Yeoman R, Kelly PJ, Eisman JA (1992) Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphism and circulating osteocalcin. Proc Natl Acad Sci USA 89(15):6665-6669
25. Faraco JH, Morrison NA, Baker A, Shine J, Frossard PM (1989) ApaI dimorphism at the human vitamin D receptor gene locus. Nucleic Acids Res 17(5):2150 (Pubitemid 19084283)
26. Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV et al (1994) Prediction of bone density from vitamin D receptor alleles. Nature 367(6460):284-287 (Pubitemid 24051146)
27. Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, Morita K et al (1997) A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 12 (6):915-921 (Pubitemid 27225001)
28. Gross C, Eccleshall TR, Malloy PJ, Villa ML, Marcus R, Feldman D (1996) The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J Bone Miner Res 11(12):1850-1855 (Pubitemid 26425676)
29. Jurutka PW, Remus LS, Whitfield GK, Thompson PD, Hsieh JC, Zitzer H et al (2000) The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB. Mol Endocrinol 14(3):401-420 (Pubitemid 32260532)
30. Whitfield GK, Remus LS, Jurutka PW, Zitzer H, Oza AK, Dang HT et al (2001) Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 177(1- 2):145-159 (Pubitemid 32506815)
31. 3. Clin Endocrinol (Oxf) 52(2):211-216 (Pubitemid 30108268)
32. van Etten E, Verlinden L, Giulietti A, Ramos-Lopez E, Branisteanu DD, Ferreira GB et al (2007) The vitamin D receptor gene FokI polymorphism: functional impact on the immune system. Eur J Immunol 37(2):395-405 (Pubitemid 46915579)
33. Trinchieri G, Sher A (2007) Cooperation of Toll-like receptor signals in innate immune defence. Nat Rev Immunol 7(3):179-190
34. Ramanathan B, Davis EG, Ross CR, Blecha F (2002) Cathelicidins: microbicidal activity, mechanisms of action, and roles in innate immunity. Microbes Infect 4(3):361-372 (Pubitemid 34293642)
35. 3 is a direct inducer of antimicrobial peptide gene expression. J Immunol 173(5):2909-2912 (Pubitemid 39141992)
36. Liu PT, Stenger S, Li H, Wenzel L, Tan BH, Krutzik SR et al (2006) Toll-like receptor triggering of a vitamin D-mediated human antimicrobial response. Science 311(5768):1770-1773
37. Arnson Y, Amital H, Shoenfeld Y (2007) Vitamin D and autoimmunity: new aetiological and therapeutic considerations. Ann Rheum Dis 66(9):1137-1142 (Pubitemid 47309727)
38. Deluca HF, Cantorna MT (2001) Vitamin D: its role and uses in immunology. Faseb J 15(14):2579-2585 (Pubitemid 33131084)
39. Kamen DL, Tangpricha V (2010) Vitamin D and molecular actions on the immune system: modulation of innate and autoimmunity. J Mol Med 88(5):441-450
40. 3 and its analogs: a vitamin D receptor-dependent pathway that promotes a persistent state of immaturity in vitro and in vivo. Proc Natl Acad Sci USA 98(12):6800-6805 (Pubitemid 32538297)
41. Lanzavecchia A, Sallusto F (2001) Regulation of T cell immunity by dendritic cells. Cell 106(3):263-266 (Pubitemid 32772609)
42. 3 levels in prednisone-treated adolescents with systemic lupus erythematosus. Acta Paediatr Scand 68(1):109-111 (Pubitemid 9018907)
43. 3 in patients with systemic lupus erythematosus. Clin Rheumatol 14 (4):397-400
44. Becker A, Fischer R, Schneider M (2001) Bone density and 25-OH vitamin D serum level in patients with systemic lupus erythematosus. Z Rheumatol 60(5):352-358 (Pubitemid 33701886)
45. Kamen DL, Cooper GS, Bouali H, Shaftman SR, Hollis BW, Gilkeson GS (2006) Vitamin D deficiency in systemic lupus erythematosus. Autoimmun Rev 5(2):114-117 (Pubitemid 43129539)
46. Thudi A, Yin S, Wandstrat AE, Li QZ, Olsen NJ (2008) Vitamin D levels and disease status in Texas patients with systemic lupus erythematosus. Am J Med Sci 335(2):99-104 (Pubitemid 351253404)
47. Ruiz-Irastorza G, Egurbide MV, Olivares N, Martinez-Berriotxoa A, Aguirre C (2008) Vitamin D deficiency in systemic lupus erythematosus: prevalence, predictors and clinical consequences. Rheumatology (Oxford) 47(6):920-923 (Pubitemid 351796385)
48. Ruiz-Irastorza G, Gordo S, Olivares N, Egurbide MV, Aguirre C (2010) Changes in vitamin D levels in patients with systemic lupus erythematosus: effects on fatigue, disease activity, and damage. Arthritis Care Res (Hoboken) 62(8):1160-1165
49. Wu PW, Rhew EY, Dyer AR, Dunlop DD, Langman CB, Price H et al (2009) 25-Hydroxyvitamin D and cardiovascular risk factors in women with systemic lupus erythematosus. Arthritis Rheum 61 (10):1387-1395
50. Damanhouri LH, Vitemin D (2009) Deficiency in Saudi patients with systemic lupus erythematosus. Saudi Med J 30(10):1291- 1295
51. Toloza SM, Cole DE, Gladman DD, Ibanez D, Urowitz MB (2010) Vitamin D insufficiency in a large female SLE cohort. Lupus 19 (1):13-19
52. Ben-Zvi I, Aranow C, Mackay M, Stanevsky A, Kamen DL, Marinescu LM et al (2010) The impact of vitamin D on dendritic cell function in patients with systemic lupus erythematosus. PLoS One 5(2):e9193
53. Kim HA, Sung JM, Jeon JY, Yoon JM, Suh CH (2010) Vitamin D may not be a good marker of disease activity in Korean patients with systemic lupus erythematosus. Rheumatol Int 31:1189-1194
54. Amital H, Szekanecz Z, Szucs G, Danko K, Nagy E, Csepany T et al (2010) 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? Ann Rheum Dis 69(6):1155-1157
55. Zheng YJ, Chen S, Li ZQ, Yuan M, Ao W, Bao CD et al (2010) The relationship of vitamin D endocrine system and estrogen receptor expression with bone mineral density in initial systemic lupus erythematosus. Zhonghua Nei Ke Za Zhi 49(4):309-312
56. Szodoray P, Tarr T, Bazso A, Poor G, Szegedi G, Kiss E (2010) The immunopathological role of vitamin D in patients with SLE: data from a single centre registry in Hungary. Scand J Rheumatol 40:122-126
57. Huisman AM, White KP, Algra A, Harth M, Vieth R, Jacobs JW et al (2001) Vitamin D levels in women with systemic lupus erythematosus and fibromyalgia. J Rheumatol 28(11):2535-2539 (Pubitemid 33031987)
58. Wright TB, Shults J, Leonard MB, Zemel BS, Burnham JM (2009) Hypovitaminosis D is associated with greater body mass index and disease activity in pediatric systemic lupus erythematosus. J Pediatr 155(2):260-265
59. Borba VZ, Vieira JG, Kasamatsu T, Radominski SC, Sato EI, Lazaretti-Castro M (2009) Vitamin D deficiency in patients with active systemic lupus erythematosus. Osteoporos Int 20(3):427- 433
60. Lora P, Scalco R, Furlanetto TW, Xavier RM (2008) Vitamin D status in patients with systemic lupus erythematosus from southern Brazil, vol 46(Supplement: IFCC WorldLab Fortaleza 2008. Clinical Chemistry and Laboratory Medicine, Walter de Gruyter, New York, p 7
61. Souto M, Coelho A, Guo C, Mendonca L, Argolo S, Papi J et al (2011) Vitamin D insufficiency in Brazilian patients with SLE: prevalence, associated factors, and relationship with activity. Lupus 20(10):1019-1026
62. Mok CC, Birmingham DJ, Leung HW, Hebert LA, Song H, Rovin BH (2011) Vitamin D levels in Chinese patients with systemic lupus erythematosus: relationship with disease activity, vascular risk factors and atherosclerosis. Rheumatology (Oxford) 51 (4):644-652
63. Carvalho JF, Blank M, Kiss E, Tarr T, Amital H, Shoenfeld Y (2007) Anti-vitamin D, vitamin D in SLE: preliminary results. Ann N Y Acad Sci 1109:550-557 (Pubitemid 47511398)
64. Bogaczewicz J, Sysa-Jedrzejowska A, Arkuszewska C, Zabek J, Kontny E, Wozniacka A (2010) Prevalence of autoantibodies directed against 1,25(OH)2D3 in patients with systemic lupus erythematosus. Pol Merkur Lekarski 28(164):103-107
65. Al-Janadi M, Al-Balla S, Al-Dalaan A, Raziuddin S (1993) Cytokine profile in systemic lupus erythematosus, rheumatoid arthritis, and other rheumatic diseases. J Clin Immunol 13(1):58-67 (Pubitemid 23047997)
66. Evans RM (1988) The steroid and thyroid hormone receptor superfamily. Science 240(4854):889-895
67. Ozaki Y, Nomura S, Nagahama M, Yoshimura C, Kagawa H, Fukuhara S (2000) Vitamin-D receptor genotype and renal disorder in Japanese patients with systemic lupus erythematosus. Nephron 85(1):86-91 (Pubitemid 30242835)
68. Huang CM,Wu MC,Wu JY, Tsai FJ (2002) Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus. Lupus 11(1):31-34
69. Sakulpipatsin W, Verasertniyom O, Nantiruj K, Totemchokchyakarn K, Lertsrisatit P, Janwityanujit S (2006) Vitamin D receptor gene BsmI polymorphisms in Thai patients with systemic lupus erythematosus. Arthritis Res Ther 8(2):R48
70. Abbasi M, Rezaieyazdi Z, Afshari JT, Hatef M, Sahebari M, Saadati N (2010) Lack of association of vitamin D receptor gene BsmI polymorphisms in patients with systemic lupus erythematosus. Rheumatol Int 30(11):1537-1539
71. Huang CM, Wu MC, Wu JY, Tsai FJ (2002) No association of vitamin D receptor gene start codon fok 1 polymorphisms in Chinese patients with systemic lupus erythematosus. J Rheumatol 29(6):1211-1213
72. Lee YH, Bae SC, Choi SJ, Ji JD, Song GG (2011) Associations between vitamin D receptor polymorphisms and susceptibility to rheumatoid arthritis and systemic lupus erythematosus: a metaanalysis. Mol Biol Rep 38:3643-3651
73. Monticielo OA, Brenol JC, Chies JA, Longo MG, Rucatti GG, Scalco R et al (2012) The role of BsmI and FokI vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D in Brazilian patients with systemic lupus erythematosus. Lupus 21 (1):43-52
74. Luo XY, Wu LJ, Yang MH, Liu NT, Liao T, Tang Z et al (2011) Relationship of vitamin D receptor gene Fok I polymorphism with systemic lupus erythematosus. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 27(8):901-905
75. Luo XY, Yang MH, Wu FX, Wu LJ, Chen L, Tang Z et al (2011) Vitamin D receptor gene BsmI polymorphism B allele, but not BB genotype, is associated with systemic lupus erythematosus in a Han Chinese population. Lupus 21(1):53-59