Vitamin D receptor genotype is associated with Addison's disease

European Journal of Endocrinology

Volumn 147, Issue 5, 2002, Pages 635-640

  Pani, Michael A ^b   Seissler, Jochen ^a   Badenhoop, Klaus ^b  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

VITAMIN D RECEPTOR;

ADDISON DISEASE; ADRENAL CORTEX CELL; ARTICLE; AUTOIMMUNE DISEASE; CELL DESTRUCTION; CONTROLLED STUDY; DISEASE MARKER; DRUG MECHANISM; FEMALE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GRAVES DISEASE; HASHIMOTO DISEASE; HUMAN; IMMUNOREGULATION; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; T LYMPHOCYTE;

EID: 0036855290     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1470635     Document Type: Article

References (51)

1. Kong MF & Jeffcoate W. Eighty-six cases of Addison's disease. Clinical Endocrinology 1994 41 757-761.
2. Laureti S, Vecchi L, Santeusanio F & Falorni A. Is the prevalence of Addison's disease underestimated? Journal of Clinical Endocrinology and Metabolism 1999 84 1762.
3. Ahonen P, Myllarniemi S, Sipila I & Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. New England Journal of Medicine 1990 322 1829-1836.
4. Betterle C, Volpato M, Greggio AN & Presotto F. Type 2 polyglandular autoimmune disease (Schmidt's syndrome). Journal of Pediatric Endocrinology and Metabolism 1996 9 113-123.
5. Bell NH, Morrison NA, Nguyen TV, Eisman J & Hollis BW. ApaI polymorphisms of the vitamin D receptor predict bone density of the lumbar spine and not racial difference in bone density in young men. Journal of Laboratory and Clinical Medicine 2001 137 133-140.
6. Badenhoop K, Walfish PG, Rau H, Fischer S, Nicolay A, Bogner U et al. Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune diseases. Journal of Clinical Endocrinology and Metabolism 1995 80 2112-2117.
7. Betterle C & Volpato M. Adrenal and ovarian autoimmunity. European Journal of Endocrinology 1998 138 16-25.
8. Peterson P, Uibo R & Krohn KJ. Adrenal autoimmunity: results and developments. Trends in Endocrinology and Metabolism 2000 11 285-290.
9. Nerup J & Bendixen G. Anti-adrenal cellular hypersensitivity in Addison's disease. II. Correlation with clinical and serological findings. Clinical and Experimental Immunology 1969 5 341-353.
10. Fairchild RS, Schimke RN & Abdou NI. Immunoregulation abnormalities in familial Addison's disease. Journal of Clinical Endocrinology and Metabolism 1980 51 1074-1077.
11. Donner H, Braun J, Seidl C, Rau H, Finke R, Ventz M et al. Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. Journal of Clinical Endocrinology and Metabolism 1997 82 4130-4132.
12. Kemp EH, Ajjan RA, Husebye ES, Peterson P, Uibo R, Imrie H et al. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients. Clinical Endocrinology 1998 49 609-613.
13. Betterle C, Volpato M, Pedini B, Chen S, Smith BR & Furmaniak J. Adrenal-cortex autoantibodies and steroid-producing cell auto-antibodies in patients with Addison's disease: comparison of immunofluorescence and immunoprecipitation assays. Journal of Clinical Endocrinology and Metabolism 1999 84 618-622.
14. Laureti S, De Bellis A, Muccitelli VI, Calcinaro F, Bizzarro A, Rossi R et al. Levels of adrenocortical autoantibodies correlate with the degree of adrenal dysfunction in subjects with preclinical Addison's disease. Journal of Clinical Endocrinology and Metabolism 1998 83 3507-3511.
15. Thomasset M. Vitamin D and the immune system. Pathologie Biologie 1994 42 163-172.
16. Lemire J. 1,25-Dihydroxyvitamin D3 - a hormone with immunomodulatory properties. Zeitschrift für Rheumatologie 2000 59 24-27.
17. Cantorna MT. Vitamin D and autoimmunity: is vitamin D status an environmental factor affecting autoimmune disease prevalence? Proceedings of the Society for Experimental Biology and Medicine 2000 223 230-233.
18. Mathieu C, Waer M, Laureys J, Rutgeerts O & Bouillon R. Prevention of autoimmune diabetes in NOD mice by 1,25 dihydroxyvitamin D3. Diabetologia 1994 37 552-558.
19. Fournier C, Gepner P, Sadouk M & Charreire J. In vivo beneficial effects of cyclosporin A and 1,25-dihydroxyvitamin D3 on the induction of experimental autoimmune thyroiditis. Clinical Immunology and Immunopathology 1990 54 53-63.
20. Lemire JM & Archer DC. 1,25-Dihydroxyvitamin D3 prevents the in vivo induction of murine experimental autoimmune encephalomyelitis. Journal of Clinical Investigation 1991 87 1103-1107.
21. Tokuda N, Mano T & Levy RB. 1,25-Dihydroxyvitamin D3 antagonizes interferon-gamma-induced expression of class II major histocompatibility antigens on thyroid follicular and testicular Leydig cells. Endocrinology 1990 127 1419-1427.
22. Hahn HJ, Kuttler B, Mathieu C & Bouillon R. 1,25-Dihydroxyvitamin D3 reduces MHC antigen expression on pancreatic beta-cells in vitro. Transplantation Proceedings 1997 29 2156-2157.
23. Muller K & Bendtzen K. Inhibition of human T lymphocyte proliferation and cytokine production by 1,25-dihydroxyvitamin D3. Differential effects on CD45RA+ and CD45RO+ cells. Autoimmunity 1992 14 37-43.
24. Willheim M, Thien R, Schrattbauer K, Bajna E, Holub M, Gruber R et al. Regulatory effects of 1α,25-dihydroxyvitamin D3 on the cytokine production of human peripheral blood lymphocytes. Journal of Clinical Endocrinology and Metabolism 1999 84 3739-3744.
25. Ravid A, Koren R, Novogrodsky A & Liberman UA. 1,25-Dihydroxyvitamin D3 inhibits selectively the mitogenic stimulation of mouse medullary thymocytes. Biochemical and Biophysical Research Communications 1984 123 163-169.
26. Provvedini DM, Sakagami Y & Manolagas SC. Distinct target cells and effects of 1α,25-dihydroxyvitamin D3 and glucocorticoids in the rat thymus gland. Endocrinology 1989 124 1532-1538.
27. McDermott MF, Ramachandran A, Ogunkolade BW, Aganna E, Curtis D, Boucher BJ et al. Allelic variation in the vitamin D receptor influences susceptibility to IDDM in Indian Asians. Diabetologia 1997 40 971-975.
28. Pani MA, Knapp M, Donner H, Braun J, Baur MP, Usadel KH et al. Vitamin D receptor allele combinations influence genetic susceptibility to type I diabetes in Germans. Diabetes 2000 49 504-507.
29. Chang TJ, Lei HH, Yeh JI, Chin KC, Lee KC, Chen MC et al. Vitamin D receptor gene polymorphisms influence susceptibility to type 1 diabetes mellitus in the Taiwanese population. Clinical Endocrinology 2000 52 575-580.
30. Ban Y, Ban Y, Taniyama M & Katagiri T. Vitamin D receptor initiation codon polymorphism in Japanese patients with Graves' disease. Thyroid 2000 10 375-380.
31. Yassin N, Seissler J, Gluck M, Boehm BO, Heinze E, Pfeiffer EF et al. Insulin autoantibodies as determined by competitive radiobinding assay are positively correlated with impaired beta-cell function - the Ulm-Frankfurt Population Study. Klinische Wochenschrift 1991 69 736-741.
32. Lucotte G, Mercier G & Burckel A. Fok I polymorphism at the human vitamin D receptor gene locus in Europeans and Africans. Clinical Genetics 1999 55 281-282.
33. Langdahl BL, Gravholt CH, Brixen K & Eriksen EF. Polymorphisms in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures. European Journal of Clinical Investigation 2000 30 608-617.
34. Ban Y & Taniyama M. Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population. Journal of Clinical Endocrinology and Metabolism 2000 85 4639-4643.
35. Chen WC, Chen HY, Lu HF, Hsu CD & Tsai FJ. Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease. British Journal of Urology International 2001 87 168-171.
36. Cantorna MT, Hayes CE & DeLuca HF. 1,25-Dihydroxycholecalciferol inhibits the progression of arthritis in murine models of human arthritis. Journal of Nutrition 1998 128 68-72.
37. Czernobilsky H, Scharla S, Schmidt-Gayk H & Ziegler R. Enhanced suppression of 1,25(OH)2D3 and intact parathyroid hormone in Graves' disease as compared to toxic nodular goiter. Calcified Tissue International 1988 42 5-12.
38. Kawakami-Tani T, Fukawa E, Tanaka H, Abe Y & Makino I. Effect of 1α-hydroxyvitamin D3 on serum levels of thyroid hormones in hyperthyroid patients with untreated Graves' disease. Metabolism 1997 46 1184-1188.
39. Baumgartl HJ, Standl E, Schmidt-Gayk H, Kolb HJ, Janka HU & Ziegler AG. Changes of vitamin D3 serum concentrations at the onset of immune-mediated type 1 (insulin-dependent) diabetes mellitus. Diabetes Research 1991 16 145-148.
40. EURODIAB Substudy 2 Study Group, Vitamin D supplement in early childhood and risk for type I (insulin-dependent) diabetes mellitus. Diabetologia 1999 42 51-54.
41. Gross C, Eccleshall TR, Malloy PJ, Villa ML, Marcus R & Feldman D. 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. Journal of Bone and Mineral Research 1996 11 1850-1855.
42. Colin EM, Weel AE, Uitterlinden AG, Buurman CJ, Birkenhager JC, Pols HA et al. Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1,25-dihydroxyvitamin D3. Clinical Endocrinology 2000 52 211-216.
43. Jurutka PW, Remus LS, Whitfield GK, Thompson PD, Hsieh JC, Zitzer H et al. The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB. Molecular Endocrinology 2000 14 401-420.
44. Miyamoto K, Takentani Y, Tohna E & Nishisho T. A novel polymorphism in the vitamin D receptor and bone mineral density: a study of vitamin D receptor expression and function in COS-7 cells. Journal of Bone and Mineral Research 1996 11 116S.
45. Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, Morita K 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 1997 12 915-921.
46. Gross C, Krishnan AV, Malloy PJ, Eccleshall TR, Zhao XY & Feldman D. The vitamin D receptor gene start codon polymorphism: a functional analysis of FokI variants. Journal of Bone and Mineral Research 1998 13 1691-1699.
47. Yamagata M, Nakajima S, Tokita A, Sakai N, Yanagihara I, Yabuta K et al. Analysis of the stable levels of messenger RNA derived from different polymorphic alleles in the vitamin D receptor gene. Journal of Bone and Mineral Metabolism 1999 17 164-170.
48. Mocharla H, Butch AW, Pappas AA, Flick JT, Weinstein RS, De Togni P et al. Quantification of vitamin D receptor mRNA by competitive polymerase chain reaction in PBMC: lack of correspondence with common allelic variants. Journal of Bone and Mineral Research 1997 12 726-733.
49. Gross C, Musiol IM, Eccleshall TR, Malloy PJ & Feldman D. Vitamin D receptor gene polymorphisms: analysis of ligand binding and hormone responsiveness in cultured skin fibroblasts. Biochemical and Biophysical Research Communications 1998 242 467-473.
50. Tokita A, Matsumoto H, Morrison NA, Tawa T, Miura Y, Fukamauchi K et al. Vitamin D receptor alleles, bone mineral density and turnover in premenopausal Japanese women. Journal of Bone and Mineral Research 1996 11 1003-1009.
51. Suarez F, Zeghoud F, Rossignol C, Walrant O & Garabedian M. Association between vitamin D receptor gene polymorphism and sex-dependent growth during the first two years of life. Journal of Clinical Endocrinology and Metabolism 1997 82 2966-2970.