Interaction of Vitamin D receptor with HLA DRB1*0301 in Type 1 diabetes patients from North India

PLoS ONE

Volumn 4, Issue 12, 2009, Pages

  Israni, Neetu ^a   Goswami, Ravinder ^b   Kumar, Avinash ^a   Rani, Rajni ^a  

^a NATIONAL INSTITUTE OF IMMUNOLOGY   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HLA DR ANTIGEN; MESSENGER RNA; PROTEIN APA1; PROTEIN BSM1; PROTEIN FOK1; PROTEIN TAQ1; UNCLASSIFIED DRUG; VITAMIN D RECEPTOR; CALCITRIOL; CALCITRIOL RECEPTOR; HLA-DRB1 ANTIGEN;

ADULT; ALLELE; ARTICLE; AUTOIMMUNITY; CONTROLLED STUDY; DIABETIC PATIENT; FEMALE; FLOW CYTOMETRY; GENE CONSTRUCT; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE INTERACTION; GENE LOCUS; HAPLOTYPE; HUMAN; HYBRIDIZATION; INDIA; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OLIGONUCLEOTIDE PROBE; ONSET AGE; PROMOTER REGION; PROTEIN PROTEIN INTERACTION; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; THYMUS; CASE CONTROL STUDY; DNA SEQUENCE; DRUG EFFECT; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; MOLECULAR GENETICS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEXUAL DEVELOPMENT;

AGE OF ONSET; ALLELES; BASE SEQUENCE; CALCITRIOL; CASE-CONTROL STUDIES; DIABETES MELLITUS, TYPE 1; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HLA-DR ANTIGENS; HUMANS; INDIA; MALE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RECEPTORS, CALCITRIOL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEX CHARACTERISTICS;

EID: 77949510627     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0008023     Document Type: Article

References (64)

1. Ramachandran A, Snehalatha C, Krishnaswamy CV (1996) Incidence of IDDM in children in urban population in southern India. Madras IDDM Registry Group Madras, South India. Diabetes Res Clin Pract 34: 79-82.
2. Rani R, Sood A, Goswami R (2004) Molecular basis of predisposition to develop type 1 diabetes mellitus in North Indians. Tissue Antigens 64: 145-155.
3. Kumar R, Goswami R, Agarwal S, Israni N, Singh SK, et al. (2007) Association and interaction of the TNF-alpha gene with other pro- and anti-inflammatory cytokine genes and HLA genes in patients with type 1 diabetes from North India. Tissue Antigens 69: 557-567.
4. Evans RM (1988) The steroid and thyroid hormone receptor superfamily. Science 240: 889-895.
5. Boonstra A, Barrat FJ, Crain C, Heath VL, Savelkoul HF, et al. (2001) 1alpha,25-Dihydroxyvitamin d3 has a direct effect on naive CD4(+) T cells to enhance the development of Th2 cells. J Immunol 167: 4974-4980.
6. Takeuchi A, Reddy GS, Kobayashi T, Okano T, Park J, et al. (1998) Nuclear factor of activated T cells (NFAT) as a molecular target for 1alpha,25- dihydroxyvitamin D3-mediated effects. J Immunol 160: 209-218.
7. Bhalla AK, Amento EP, Serog B, Glimcher LH (1984) 1,25-Dihydroxyvitamin D3 inhibits antigen-induced T cell activation. J Immunol 133: 1748-1754.
8. Alroy I, Towers TL, Freedman LP (1995) Transcriptional repression of the interleukin-2 gene by vitamin D3: direct inhibition of NFATp/AP-1 complex formation by a nuclear hormone receptor. Mol Cell Biol 15: 5789-5799.
9. Cippitelli M, Santoni A (1998) Vitamin D3: a transcriptional modulator of the interferon-gamma gene. Eur J Immunol 28: 3017-3030.
10. Lemire JM (1992) Immunomodulatory role of 1,25-dihydroxyvitamin D3. J Cell Biochem 49: 26-31.
11. D'Ambrosio D, Cippitelli M, Cocciolo MG, Mazzeo D, Di Lucia P, et al. (1998) Inhibition of IL-12 production by 1,25-dihydroxyvitamin D3. Involvement of NF-kappaB downregulation in transcriptional repression of the p40 gene. J Clin Invest 101: 252-262.
12. Cantorna MT, Woodward WD, Hayes CE, DeLuca HF (1998) 1,25- dihydroxyvitamin D3 is a positive regulator for the two anti-encephalitogenic cytokines TGF-beta 1 and IL-4. J Immunol 160: 5314-5319.
13. Rigby WF, Waugh M, Graziano RF (1990) Regulation of human monocyte HLA-DR and CD4 antigen expression, and antigen presentation by 1,25- dihydroxyvitamin D3. Blood 76: 189-197.
14. Skjodt H, Hughes DE, Dobson PR, Russell RG (1990) Constitutive and inducible expression of HLA class II determinants by human osteoblast-like cells in vitro. J Clin Invest 85: 1421-1426.
15. Mathieu C, Laureys J, Sobis H, Vandeputte M, Waer M, et al. (1992) 1,25- Dihydroxyvitamin D3 prevents insulitis in NOD mice. Diabetes 41: 1491-1495.
16. Mathieu C, Waer M, Laureys J, Rutgeerts O, Bouillon R (1994) Prevention of autoimmune diabetes in NOD mice by 1,25 dihydroxyvitamin D3. Diabetologia 37: 552-558.
17. Gysemans CA, Cardozo AK, Callewaert H, Giulietti A, Hulshagen L, et al. (2005) 1,25-Dihydroxyvitamin D3 modulates expression of chemokines and cytokines in pancreatic islets: implications for prevention of diabetes in nonobese diabetic mice. Endocrinology 146: 1956-1964.
18. Zella JB, McCary LC, DeLuca HF (2003) Oral administration of 1,25- dihydroxyvitamin D3 completely protects NOD mice from insulin-dependent diabetes mellitus. Arch Biochem Biophys 417: 77-80.
19. Hypponen E, Laara E, Reunanen A, Jarvelin MR, Virtanen SM (2001) Intake of vitamin D and risk of type 1 diabetes: a birth-cohort study. Lancet 358: 1500-1503.
20. Jones G, Strugnell SA, DeLuca HF (1998) Current understanding of the molecular actions of vitamin D. Physiol Rev 78: 1193-1231.
21. Gross C, Eccleshall TR, Malloy PJ, Villa ML, Marcus R, et al. (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: 1850-1855.
22. Morrison NA, Yeoman R, Kelly PJ, Eisman JA (1992) Contribution of transacting factor alleles to normal physiological variability: vitamin D receptor gene polymorphism and circulating osteocalcin. Proc Natl Acad Sci U S A 89: 6665-6669.
23. 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: 2150.
24. Durrin LK, Haile RW, Ingles SA, Coetzee GA (1999) Vitamin D receptor 39- untranslated region polymorphisms: lack of effect on mRNA stability. Biochim Biophys Acta 1453: 311-320.
25. Zhao J, Jin L, Xiong M (2006) Test for interaction between two unlinked loci. Am J Hum Genet 79: 831-845.
26. Ramagopalan SV, Maugeri NJ, Handunnetthi L, Lincoln MR, Orton SM, et al. (2009) Expression of the multiple sclerosis-associated MHC class II Allele HLADRB1* 1501 is regulated by vitamin D. PLoS Genet 5: e1000369.
27. Shi YY, He L (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 15: 97-98.
28. Sandelin A, Alkema W, Engstrom P, Wasserman WW, Lenhard B (2004) JASPAR: an open-access database for eukaryotic transcription factor binding profiles 10.1093/nar/gkh012. Nucl Acids Res 32: D91-94.
29. Komine M, Watabe Y, Shimaoka S, Sato F, Kake K, et al. (1999) The action of a novel vitamin D3 analogue, OCT, on immunomodulatory function of keratinocytes and lymphocytes. Arch Dermatol Res 291: 500-506.
30. Towers TL, Staeva TP, Freedman LP (1999) A two-hit mechanism for vitamin D3-mediated transcriptional repression of the granulocyte-macrophage colonystimulating factor gene: vitamin D receptor competes for DNA binding with NFAT1 and stabilizes c-Jun. Mol Cell Biol 19: 4191-4199.
31. Yu XP, Bellido T, Manolagas SC (1995) Down-regulation of NF-kappa B protein levels in activated human lymphocytes by 1,25-dihydroxyvitamin D3. Proc Natl Acad Sci U S A 92: 10990-10994.
32. Park YC, Rimbach G, Saliou C, Valacchi G, Packer L (2000) Activity of monomeric, dimeric, and trimeric flavonoids on NO production, TNF-alpha secretion, and NF-kappaB-dependent gene expression in RAW 264.7 macrophages. FEBS Lett 465: 93-97.
33. Rooney JW, Sun YL, Glimcher LH, Hoey T (1995) Novel NFAT sites that mediate activation of the interleukin-2 promoter in response to T-cell receptor stimulation. Mol Cell Biol 15: 6299-6310.
34. Ogunkolade BW, Boucher BJ, Prahl JM, Bustin SA, Burrin JM, et al. (2002) Vitamin D receptor (VDR) mRNA and VDR protein levels in relation to vitamin D status, insulin secretory capacity, and VDR genotype in Bangladeshi Asians. Diabetes 51: 2294-2300.
35. Nejentsev S, Godfrey L, Snook H, Rance H, Nutland S, et al. (2004) Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene. Hum Mol Genet 13: 1633-1639.
36. Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, 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: 915-921.
37. Zmuda JM, Cauley JA, Ferrell RE (2000) Molecular epidemiology of vitamin D receptor gene variants. Epidemiol Rev 22: 203-217.
38. Haussler MR, Whitfield GK, Haussler CA, Hsieh JC, Thompson PD, et al. (1998) The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 13: 325-349.
39. Jurutka PW, Remus LS, Whitfield GK, Thompson PD, Hsieh JC, 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: 401-420.
40. van Etten E, Verlinden L, Giulietti A, Ramos-Lopez E, Branisteanu DD, et al. (2007) The vitamin D receptor gene FokI polymorphism: functional impact on the immune system. Eur J Immunol 37: 395-405.
41. McDermott MF, Ramachandran A, Ogunkolade BW, Aganna E, Curtis D, et al. (1997) Allelic variation in the vitamin D receptor influences susceptibility to IDDM in Indian Asians. Diabetologia 40: 971-975.
42. Chang TJ, Lei HH, Yeh JI, Chiu KC, Lee KC, et al. (2000) Vitamin D receptor gene polymorphisms influence susceptibility to type 1 diabetes mellitus in the Taiwanese population. Clin Endocrinol (Oxf) 52: 575-580.
43. Skrabic V, Zemunik T, Situm M, Terzic J (2003) Vitamin D receptor polymorphism and susceptibility to type 1 diabetes in the Dalmatian population. Diabetes Res Clin Pract 59: 31-35.
44. Motohashi Y, Yamada S, Yanagawa T, Maruyama T, Suzuki R, et al. (2003) Vitamin D receptor gene polymorphism affects onset pattern of type 1 diabetes. J Clin Endocrinol Metab 88: 3137-3140.
45. Guja C, Marshall S, Welsh K, Merriman M, Smith A, et al. (2002) The study of CTLA-4 and vitamin D receptor polymorphisms in the Romanian type 1 diabetes population. J Cell Mol Med 6: 75-81.
46. Pani MA, Knapp M, Donner H, Braun J, Baur MP, et al. (2000) Vitamin D receptor allele combinations influence genetic susceptibility to type 1 diabetes in Germans. Diabetes 49: 504-507.
47. Angel B, Santos JL, Carrasco E, Albala C, Perez-Bravo F (2004) Vitamin D receptor polymorphism and susceptibility to type 1 diabetes in Chilean subjects: a case-parent study. Eur J Epidemiol 19: 1085-1087.
48. Turpeinen H, Hermann R, Vaara S, Laine AP, Simell O, et al. (2003) Vitamin D receptor polymorphisms: no association with type 1 diabetes in the Finnish population. Eur J Endocrinol 149: 591-596.
49. Bianco MG, Minicucci L, Calevo MG, Lorini R (2004) Vitamin D receptor polymorphisms: are they really associated with type 1 diabetes? Eur J Endocrinol 151: 641-642.
50. Guo SW, Magnuson VL, Schiller JJ, Wang X, Wu Y, et al. (2006) Meta-analysis of vitamin D receptor polymorphisms and type 1 diabetes: a HuGE review of genetic association studies. Am J Epidemiol 164: 711-724.
51. Ponsonby AL, Pezic A, Ellis J, Morley R, Cameron F, et al. (2008) Variation in associations between allelic variants of the vitamin D receptor gene and onset of type 1 diabetes mellitus by ambient winter ultraviolet radiation levels: a metaregression analysis. Am J Epidemiol 168: 358-365.
52. Guy M, Lowe LC, Bretherton-Watt D, Mansi JL, Peckitt C, et al. (2004) Vitamin D receptor gene polymorphisms and breast cancer risk. Clin Cancer Res 10: 5472-5481.
53. Gross C, Krishnan AV, Malloy PJ, Eccleshall TR, Zhao XY, et al. (1998) The vitamin D receptor gene start codon polymorphism: a functional analysis of FokI variants. J Bone Miner Res 13: 1691-1699.
54. Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, Van Leeuwen JP (2004) Genetics and biology of vitamin D receptor polymorphisms. Gene 338: 143-156.
55. Pugliese A, Zeller M, Fernandez A Jr, Zalcberg LJ, Bartlett RJ, et al. (1997) The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet 15: 293-297.
56. Vafiadis P, Bennett ST, Todd JA, Nadeau J, Grabs R, et al. (1997) Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 15: 289-292.
57. Goswami R, Marwaha RK, Goswami D, Gupta N, Ray D, et al. (2006) Prevalence of thyroid autoimmunity in sporadic idiopathic hypoparathyroidism in comparison to type 1 diabetes and premature ovarian failure. J Clin Endocrinol Metab 91: 4256-4259.
58. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 26 Suppl 1: S5-20.
59. Hustmyer FG, DeLuca HF, Peacock M (1993) ApaI, BsmI, EcoRV and TaqI polymorphisms at the human vitamin D receptor gene locus in Caucasians, blacks and Asians. Hum Mol Genet 2: 487.
60. Fernandez-Vina MA, Gao XJ, Moraes ME, Moraes JR, Salatiel I, et al. (1991) Alleles at four HLA class II loci determined by oligonucleotide hybridization and their associations in five ethnic groups. Immunogenetics 34: 299-312.
61. Rani R, Mukherjee R, Stastny P (1998) Diversity of HLA-DR2 in North Indians: the changed scenario after the discovery of DRB1*1506. Tissue Antigens 52: 147-152.
62. Louis P, Eliaou JF, Kerlan-Candon S, Pinet V, Vincent R, et al. (1993) Polymorphism in the regulatory region of HLA-DRB genes correlating with haplotype evolution. Immunogenetics 38: 21-26.
63. Rani R, Fernandez-Vina MA, Stastny P (1998) Associations between HLA class II alleles in a North Indian population. Tissue Antigens 52: 37-43.
64. Emery P, Mach B, Reith W (1993) The different level of expression of HLADRB1 and -DRB3 genes is controlled by conserved isotypic differences in promoter sequence. Hum Immunol 38: 137-147.