The role of BsmI and FokI vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D in Brazilian patients with systemic lupus erythematosus

Lupus

Volumn 21, Issue 1, 2012, Pages 43-52

  Monticielo, O A ^a,b   Brenol, J C T ^a   Chies, J A B ^c   Longo, M G F ^a   Rucatti, G G ^a   Scalco, R ^a   Xavier, R M ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF SANTA MARIA   (Brazil)

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

Author keywords

25 hydroxyvitamin D; BsmI polymorphism; FokI polymorphism; genetics and immunology; systemic lupus erythematosus; vitamin D; vitamin D receptor

Indexed keywords

25 HYDROXYVITAMIN D; PROTEIN BSM I; PROTEIN FOK I; UNCLASSIFIED DRUG; VITAMIN D RECEPTOR;

ADULT; ANTIPHOSPHOLIPID SYNDROME; ARTICLE; BRAZIL; CASE CONTROL STUDY; CHEMOLUMINESCENCE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; EUROPE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEPHRITIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SJOEGREN SYNDROME; SYSTEMIC LUPUS ERYTHEMATOSUS; VITAMIN BLOOD LEVEL;

ADULT; BRAZIL; CASE-CONTROL STUDIES; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; RECEPTORS, CALCITRIOL; VITAMIN D;

EID: 83655164175     PISSN: 09612033     EISSN: 14770962     Source Type: Journal    
DOI: 10.1177/0961203311421798     Document Type: Article

References (60)

1. Manson JJ, Isenberg DA. The pathogenesis of systemic lupus erythematosus. Neth J Med. 2003 ; 61: 343-346
2. Kamen DL, Tangpricha V. Vitamin D and molecular actions on the immune system: modulation of innate and autoimmunity. JMol Med. 2010 ; 88: 441-450
3. Kamen D, Aranow C. Vitamin D in systemic lupus erythematosus. Curr Opin Rheumatol. 2008 ; 20: 532-537
4. Kamen DL, Aranow C. The link between vitamin D deficiency and systemic lupus erythematosus. Curr Rheumatol Rep. 2008 ; 10: 273-280
5. Costenbader KH, Feskanich D, Holmes M, Karlson EW, Benito-Garcia E. Vitamin D intake and risks of systemic lupus erythematosus and rheumatoid arthritis in women. Ann Rheum Dis. 2008 ; 67: 530-535 (Pubitemid 351498436)
6. Miyamoto K, Kesterson RA, Yamamoto H, et al. Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol Endocrinol. 1997 ; 11: 1165-1179 (Pubitemid 27278838)
7. Lee YH, Bae SC, Choi SJ, Ji JD, Song GG. Associations between vitamin D receptor polymorphisms and susceptibility to rheumatoid arthritis and systemic lupus erythematosus: a meta-analysis. Mol Biol Rep. 2011 ; 38: 3643-51
8. Huang CM, Wu MC, Wu JY, Tsai FJ. No association of vitamin D receptor gene start codon fok 1 polymorphisms in Chinese patients with systemic lupus erythematosus. J Rheumatol. 2002 ; 29: 1211-1213
9. Monticielo OA, Chies JA, Mucenic T, et al. Mannose-binding lectin gene polymorphisms in Brazilian patients with systemic lupus erythematosus. Lupus. 2010 ; 19: 280-287
10. Santos NP, Ribeiro-Rodrigues EM, Ribeiro-Dos-Santos AK, et al. Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel. Hum Mutat. 2010 ; 31: 184-190
11. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997 ; 40: 1725-1725
12. Astner S, Anderson RR. Skin phototypes 2003. J Invest Dermatol. 2004 ; 122: xxx - xxxi
13. Vitali C, Bombardieri S, Jonsson R, et al. Classification criteria for Sjogren's syndrome: a revised version of the European criteria proposed by the American-European Consensus Group. Ann Rheum Dis. 2002 ; 61: 554-558 (Pubitemid 34539104)
14. Miyakis S, Lockshin MD, Atsumi T, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost. 2006 ; 4: 295-306
15. Bombardier C, Gladman DD, Urowitz MB, Caron D, Chang CH. Derivation of the SLEDAI. A disease activity index for lupus patients. The Committee on Prognosis Studies in SLE. Arthritis Rheum. 1992 ; 35: 630-640
16. Gladman D, Ginzler E, Goldsmith C, et al. The development and initial validation of the Systemic Lupus International Collaborating Clinics/American College of Rheumatology damage index for systemic lupus erythematosus. Arthritis Rheum. 1996 ; 39: 363-369 (Pubitemid 26085211)
17. Premaor MO, Alves GV, Crossetti LB, Furlanetto TW. Hyperparathyroidism secondary to hypovitaminosis D in hypoalbuminemic is less intense than in normoalbuminemic patients: a prevalence study in medical inpatients in southern Brazil. Endocrine. 2004 ; 24: 47-53 (Pubitemid 41364169)
18. Holick MF. Vitamin D deficiency. N Engl J Med. 2007 ; 357: 266-281
19. Bischoff-Ferrari HA, Giovannucci E, Willett WC, Dietrich T, Dawson-Hughes B. Estimation of optimal serum concentrations of 25-hydroxyvitamin D for multiple health outcomes. Am J Clin Nutr. 2006 ; 84: 18-28 (Pubitemid 44699167)
20. Kamen DL, Cooper GS, Bouali H, Shaftman SR, Hollis BW, Gilkeson GS. Vitamin D deficiency in systemic lupus erythematosus. Autoimmun Rev. 2006 ; 5: 114-117 (Pubitemid 43129539)
21. Lahiri DK, Nurnberger Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 1991 ; 11: 5444-5444
22. Harris SS, Eccleshall TR, Gross C, Dawson-Hughes B, Feldman D. The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women. J Bone Miner Res. 1997 ; 12: 1043-1048 (Pubitemid 27264217)
23. Morrison NA, Qi JC, Tokita A, et al. Prediction of bone density from vitamin D receptor alleles. Nature. 1994 ; 20 (367). 284-287 (Pubitemid 24051146)
24. Ozaki Y, Nomura S, Nagahama M, Yoshimura C, Kagawa H, Fukuhara S. Vitamin-D receptor genotype and renal disorder in Japanese patients with systemic lupus erythematosus. Nephron. 2000 ; 85: 86-91 (Pubitemid 30242835)
25. Mory DB, Rocco ER, Miranda WL, Kasamatsu T, Crispim F, Dib SA. Prevalence of vitamin D receptor gene polymorphisms FokI and BsmI in Brazilian individuals with type 1 diabetes and their relation to beta-cell autoimmunity and to remaining beta-cell function. Hum Immunol. 2009 ; 70: 447-451
26. Sakulpipatsin W, Verasertniyom O, Nantiruj K, Totemchokchyakarn K, Lertsrisatit P, Janwityanujit S. Vitamin D receptor gene BsmI polymorphisms in Thai patients with systemic lupus erythematosus. Arthritis Res Ther. 2006 ; 8: R48
27. Hollis BW. Circulating 25-hydroxyvitamin D levels indicative of vitamin D sufficiency: implications for establishing a new effective dietary intake recommendation for vitamin D. J Nutr. 2005 ; 135: 317-322 (Pubitemid 40194499)
28. Valdivielso JM, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clin Chim Acta. 2006 ; 371: 1-12 (Pubitemid 44162891)
29. Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, Van Leeuwen JP. Genetics and biology of vitamin D receptor polymorphisms. Gene. 2004 ; 338: 143-156 (Pubitemid 39094759)
30. Colin EM, Weel AE, Uitterlinden AG, et al. Consequences of vitamin D receptor gene polymorphisms for growth inhibition ofcultured human peripheral blood mononuclear cells by 1, 25-dihydroxyvitamin D3. Clin Endocrinol (Oxford). 2000 ; 52: 211-216 (Pubitemid 30108268)
31. Abbasi M, Rezaieyazdi Z, Afshari JT, Hatef M, Sahebari M, Saadati N. Lack of association of vitamin D receptor gene BsmI polymorphisms in patients with systemic lupus erythematosus. Rheumatol Int. 2010 ; 30: 1537-1539
32. Van Etten E, Verlinden L, Giulietti A, et al. The vitamin D receptor gene FokI polymorphism: functional impact on the immune system. Eur J Immunol. 2007 ; 37: 395-405 (Pubitemid 46915579)
33. Huang CM, Wu MC, Wu JY, Tsai FJ. Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus. Lupus. 2002 ; 11: 31-34
34. Rezende VB, Barbosa Jr, Montenegro MF, Sandrim VC, Gerlach RF, Tanus-Santos JE. An interethnic comparison of the distribution of vitamin D receptor genotypes and haplotypes. Clin Chim Acta. 2007 ; 384: 155-159 (Pubitemid 47260573)
35. Zmuda JM, Cauley JA, Ferrell RE. Molecular epidemiology ofvitamin D receptor gene variants. Epidemiol Rev. 2000 ; 22: 203-217 (Pubitemid 32116092)
36. Bortolini MC, Da Silva WAJWA, De Guerra DC, et al. African-derived South American populations: a history of symmetrical and asymmetrical matings according to sex revealed by bi- and uni-parental genetic markers. Am J Hum Biol. 1999 ; 11: 551-563 (Pubitemid 129726322)
37. McGrath JJ, Saha S, Burne TH, Eyles DW. A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations. J Steroid Biochem Mol Biol. 2010 ; 121: 471-477
38. Orton SM, Morris AP, Herrera BM, et al. Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis. Am J Clin Nutr. 2008 ; 88: 441-447
39. Smolders J, Damoiseaux J, Menheere P, Tervaert JW, Hupperts R. Fok-I vitamin D receptor gene polymorphism (rs10735810) and vitamin D metabolism in multiple sclerosis. J Neuroimmunol. 2009 ; 207: 117-121
40. Engelman CD, Fingerlin TE, Langefeld CD, et al. Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans. JClin Endocrinol Metab. 2008 ; 93: 3381-3388
41. Wjst M, Altmuller J, Faus-Kessler T, Braig C, Bahnweg M, Andre E. Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. Respir Res. 2006 ; 7: 60-60
42. Abrams SA, Griffin IJ, Hawthorne KM, et al. Vitamin D receptor Fok1 polymorphisms affect calcium absorption, kinetics, and bone mineralization rates during puberty. J Bone Miner Res. 2005 ; 20: 945-953 (Pubitemid 40712818)
43. Abbas S, Nieters A, Linseisen J, et al. Vitamin D receptor gene polymorphisms and haplotypes and postmenopausal breast cancer risk. Breast Cancer Res. 2008 ; 10: R31 - R31
44. Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S. 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis. Science. 1997 ; 277: 1827-1830
45. Theodoropoulos C, Demers C, Delvin E, Menard D, Gascon-Barre M. Calcitriol regulates the expression of the genes encoding the three key vitamin D3 hydroxylases and the drug-metabolizing enzyme CYP3A4 in the human fetal intestine. Clin Endocrinol (Oxford). 2003 ; 58: 489-499 (Pubitemid 36390622)
46. Theodoropoulos C, Demers C, Petit JL, Gascon-Barre M. High sensitivity of rat hepatic vitamin D3-25 hydroxylase CYP27A to 1,25-dihydroxyvitamin D3 administration. Am J Physiol Endocrinol Metab. 2003 ; 284: E138 - E147
47. O'Regan S, Chesney RW, Hamstra A, Eisman JA, O'Gorman AM, Deluca HF. Reduced serum 1,25-(OH)2 vitamin D3 levels in prednisone-treated adolescents with systemic lupus erythematosus. Acta Paediatr Scand. 1979 ; 68: 109-111 (Pubitemid 9018907)
48. Damanhouri LH. Vitamin D deficiency in Saudi patients with systemic lupus erythematosus. Saudi Med J. 2009 ; 30: 1291-1295
49. Toloza SM, Cole DE, Gladman DD, Ibanez D, Urowitz MB. Vitamin D insufficiency in a large female SLE cohort. Lupus. 2010 ; 19: 13-19
50. Amital H, Szekanecz Z, Szucs G, 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?. Ann Rheum Dis. 2010 ; 69: 1155-1157
51. Ruiz-Irastorza G, Gordo S, Olivares N, Egurbide MV, Aguirre C. Changes in vitamin D levels in patients with systemic lupus erythematosus: effects on fatigue, disease activity, and damage. Arthritis Care Res (Hoboken). 2010 ; 62: 1160-1165
52. Borba VZ, Vieira JG, Kasamatsu T, Radominski SC, Sato EI, Lazaretti-Castro M. Vitamin D deficiency in patients with active systemic lupus erythematosus. Osteoporos Int. 2009 ; 20: 427-433
53. Thudi A, Yin S, Wandstrat AE, Li QZ, Olsen NJ. Vitamin D levels and disease status in Texas patients with systemic lupus erythematosus. Am J Med Sci. 2008 ; 335: 99-104 (Pubitemid 351253404)
54. Wu PW, Rhew EY, Dyer AR, et al. 25-hydroxyvitamin D and cardiovascular risk factors in women with systemic lupus erythematosus. Arthritis Rheum. 2009 ; 61: 1387-1395
55. Kim HA, Sung JM, Jeon JY, Yoon JM, Suh CH. Vitamin D may not be a good marker of disease activity in Korean patients with systemic lupus erythematosus. Rheumatol Int. 2011 ; 31: 1189-94
56. Szodoray P, Tarr T, Bazso A, Poor G, Szegedi G, Kiss E. The immunopathological role of vitamin D in patients with SLE: data from a single centre registry in Hungary. Scand J Rheumatol. 2011 ; 40: 122-126
57. Scalco R, Premaor MO, Froehlich PE, Furlanetto TW. High prevalence of hypovitaminosis D and secondary hyperparathyroidism in elders living in nonprofit homes in South Brazil. Endocrine. 2008 ; 33: 95-100
58. Premaor MO, Paludo P, Manica D, et al. Hypovitaminosis D and secondary hyperparathyroidism in resident physicians of a generalhospital in southern Brazil. J Endocrinol Invest. 2008 ; 31: 991-995
59. Holick MF. Sunlight and vitamin D for bone health and prevention of autoimmune diseases, cancers, and cardiovascular disease. Am J Clin Nutr. 2004 ; 80 (Suppl. 6). 1678S - 1688S
60. Kamen DL. Vitamin D in lupus-new kid on the block?. Bull NYU Hosp Jt Dis. 68: 218-222