Original Article

You have full text access to this OnlineOpen article

Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis

Arndt Vogel,
Christian P. Strassburg,
Michael P. Manns M.D.^*

Article first published online: 30 DEC 2003

DOI: 10.1053/jhep.2002.30084

Issue

Hepatology

Volume 35, Issue 1, pages 126–131, January 2002

Additional Information

How to Cite

Vogel, A., Strassburg, C. P. and Manns, M. P. (2002), Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis. Hepatology, 35: 126–131. doi: 10.1053/jhep.2002.30084

Author Information

Department of Gastroenterology and Hepatology, Medical School of Hannover, Hannover, Germany

Email: Michael P. Manns M.D. (Manns.michael@mh-hannover.de)

^*Department of Gastroenterology and Hepatology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany. fax: (49) 511-532-2093

Publication History

Issue published online: 30 DEC 2003
Article first published online: 30 DEC 2003
Manuscript Accepted: 5 OCT 2001
Manuscript Received: 14 MAY 2001

Funded by

Deutsche Forschungsgemeinschaft. Grant Number: SFB244C11

ARTICLE TOOLS

Abstract
References
Cited By

Get PDF (184K)

References

1
Alvarez F, Berg PA, Bianchi FB, Bianchi L, Burroughs AK, Cancado EL, Chapman RW, et al. International Autoimmune Hepatitis Group Report: review of criteria for diagnosis of autoimmune hepatitis. J Hepatol 1999; 31:929–938.MEDLINE
2
Manns MP, Strassburg CP. Autoimmune hepatitis: clinical challenges. Gastroenterology 2001; 120:1502–1517.MEDLINE
3
Strettell MD, Donaldson PT, Thomson LJ, Santrach PJ, Moore SB, Czaja AJ, Williams R. Allelic basis for HLA-encoded susceptibility to type 1 autoimmune hepatitis. Gastroenterology 1997; 112:2028–2035.MEDLINE
4
Czaja AJ, Strettell MD, Thomson LJ, Santrach PJ, Moore SB, Donaldson PT, Williams R. Associations between alleles of the major histocompatibility complex and type 1 autoimmune hepatitis. Hepatology 1997; 25:317–323.MEDLINE
Direct Link:
5
Czaja AJ, Cookson S, Constantini PK, Clare M, Underhill JA, Donaldson PT. Cytokine polymorphisms associated with clinical features and treatment outcome in type 1 autoimmune hepatitis. Gastroenterology 1999; 117:645–652.MEDLINE
6
Cookson S, Constantini PK, Clare M, Underhill JA, Bernal W, Czaja AJ, Donaldson PT. Frequency and nature of cytokine gene polymorphisms in type 1 autoimmune hepatitis. Hepatology 1999; 30:851–856.MEDLINE
Direct Link:
7
Scully LJ, Toze C, Sengar DP, Goldstein R. Early-onset autoimmune hepatitis is associated with a C4A gene deletion. Gastroenterology 1993; 104:1478–1484.MEDLINE
8
Agarwal K, Czaja AJ, Jones DE, Donaldson PT. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms and susceptibility to type 1 autoimmune hepatitis. Hepatology 2000; 31:49–53.MEDLINE
Direct Link:
9
Vogel A, Liermann H, Harms A, Strassburg CP, Manns MP, Obermayer-Straub P. Autoimmune regulator AIRE: Evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1. Hepatology 2001; 33:1047–1052.MEDLINE
Direct Link:
10
Manns MP, Bremm A, Schneider PM, Notghi A, Gerken G, Prager-Eberle M, Stradmann-Bellinghausen B, et al. HLA DRw8 and complement C4 deficiency as risk factors in primary biliary cirrhosis. Gastroenterology 1991; 101:1367–1373.MEDLINE
11
Agarwal K, Jones DE, Daly AK, James OF, Vaidya B, Pearce S, Bassendine MF. CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. J Hepatol 2000; 32:538–541.MEDLINE
12
Donaldson P, Agarwal K, Craggs A, Craig W, James O, Jones D. HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with disease progression and disease susceptibility. Gut 2001; 48:397–402.MEDLINE
13
Tanaka A, Quaranta S, Mattalia A, Coppel R, Rosina F, Manns M, Gershwin ME. The tumor necrosis factor-alpha promoter correlates with progression of primary biliary cirrhosis. J Hepatol 1999; 30:826–829.MEDLINE
14
Jones DE, Watt FE, Grove J, Newton JL, Daly AK, Gregory WL, Day CP, et al. Tumour necrosis factor-alpha promoter polymorphisms in primary biliary cirrhosis. J Hepatol 1999; 30:232–236.MEDLINE
15
Morrison NA, Yeoman R, Kelly PJ, Eisman JA. Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphism and circulating osteocalcin. Proc Natl Acad Sci U S A 1992; 89:6665–6669.MEDLINE
16
Bhalla AK, Amento EP, Clemens TL, Holick MF, Krane SM. Specific high-affinity receptors for 1,25-dihydroxyvitamin D3 in human peripheral blood mononuclear cells: presence in monocytes and induction in T lymphocytes following activation. J Clin Endocrinol Metab 1983; 57:1308–1310.MEDLINE
17
Provvedini DM, Tsoukas CD, Deftos LJ, Manolagas SC. 1,25-dihydroxyvitamin D3 receptors in human leukocytes. Science 1983; 221:1181–1183.MEDLINE
18
Lemire JM, Archer DC, Beck L, Spiegelberg HL. Immunosuppressive actions of 1,25-dihydroxyvitamin D3: preferential inhibition of Th1 functions. J Nutr 1995; 125:1704S–1708S.MEDLINE
19
Rook GA, Steele J, Ainsworth M, Champion BR. Activation of macrophages to inhibit proliferation of Mycobacterium tuberculosis: comparison of the effects of recombinant gamma-interferon on human monocytes and murine peritoneal macrophages. Immunology 1986; 59:333–338.MEDLINE
20
Berer A, Stockl J, Majdic O, Wagner T, Kollars M, Lechner K, Geissler K, Oehler L. 1,25-Dihydroxyvitamin D(3) inhibits dendritic cell differentiation and maturation in vitro. Exp Hematol 2000; 28:575–583.MEDLINE
21
Piemonti L, Monti P, Sironi M, Fraticelli P, Leone BE, Dal Cin E, Allavena P, Di Carlo V. Vitamin D3 affects differentiation, maturation, and function of human monocyte-derived dendritic cells. J Immunol 2000; 164:4443–4451.MEDLINE
22
D'Ambrosio D, Cippitelli M, Cocciolo MG, Mazzeo D, Di Lucia P, Lang R, Sinigaglia F, et al. 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 1998; 101:252–262.MEDLINE
23
Lemire JM. Immunomodulatory role of 1,25-dihydroxyvitamin D3. J Cell Biochem 1992; 49:26–31.MEDLINE
Direct Link:
24
Saggese G, Federico G, Balestri M, Toniolo A. Calcitriol inhibits the PHA-induced production of IL-2 and IFN-gamma and the proliferation of human peripheral blood leukocytes while enhancing the surface expression of HLA class II molecules. J Endocrinol Invest 1989; 12:329–335.MEDLINE
25
Rigby WF, Denome S, Fanger MW. Regulation of lymphokine production and human T lymphocyte activation by 1,25-dihydroxyvitamin D3. Specific inhibition at the level of messenger RNA. J Clin Invest 1987; 79:1659–1664.MEDLINE
26
Willheim M, Thien R, Schrattbauer K, Bajna E, Holub M, Gruber R, Baier K, et al. Regulatory effects of 1alpha,25-dihydroxyvitamin D3 on the cytokine production of human peripheral blood lymphocytes. J Clin Endocrinol Metab 1999; 84:3739–3744.MEDLINE
27
Tsoukas CD, Watry D, Escobar SS, Provvedini DM, Dinarello CA, Hustmyer FG, Manolagas SC. Inhibition of interleukin-1 production by 1,25-dihydroxyvitamin D3. J Clin Endocrinol Metab 1989; 69:127–133.MEDLINE
28
Cantorna MT, Woodward WD, Hayes CE, DeLuca HF. 1,25-dihydroxyvitamin D3 is a positive regulator for the two anti-encephalitogenic cytokines TGF-beta 1 and IL-4. J Immunol 1998; 160:5314–5319.MEDLINE
29
Cantorna MT, Hayes CE, DeLuca HF. 1,25-Dihydroxyvitamin D3 reversibly blocks the progression of relapsing encephalomyelitis, a model of multiple sclerosis. Proc Natl Acad Sci U S A 1996; 93:7861–7864.MEDLINE
30
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.MEDLINE
31
Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994; 367:284–287.MEDLINE
32
Spector TD, Keen RW, Arden NK, Morrison NA, Major PJ, Nguyen TV, Kelly PJ, et al. Influence of vitamin D receptor genotype on bone mineral density in postmenopausal women: a twin study in Britain. BMJ 1995; 310:1357–1360.MEDLINE
33
Uitterlinden AG, Pols HA, Burger H, Huang Q, Van Daele PL, Van Duijn CM, Hofman A, et al. A large-scale population-based study of the association of vitamin D receptor gene polymorphisms with bone mineral density. J Bone Miner Res 1996; 11:1241–1248.MEDLINE
Direct Link:
34
Kroger H, Mahonen A, Ryhanen S, Turunen AM, Alhava E, Maenpaa P. Vitamin D receptor genotypes and bone mineral density. Lancet 1995; 345: 1238 [discussion 1239].
35
Garnero P, Borel O, Sornay-Rendu E, Arlot ME, Delmas PD. Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss, and bone mass in postmenopausal women: the OFELY Study. J Bone Miner Res 1996; 11:827–834.MEDLINE
Direct Link:
36
Pani MA, Knapp M, Donner H, Braun J, Baur MP, Usadel KH, Badenhoop K. Vitamin D receptor allele combinations influence genetic susceptibility to type 1 diabetes in Germans. Diabetes 2000; 49:504–507.MEDLINE
37
McDermott MF, Ramachandran A, Ogunkolade BW, Aganna E, Curtis D, Boucher BJ, Snehalatha C, et al. Allelic variation in the vitamin D receptor influences susceptibility to IDDM in Indian Asians. Diabetologia 1997; 40:971–975.MEDLINE
38
Chang TJ, Lei HH, Yeh JI, Chiu KC, Lee KC, Chen MC, Tai TY, Chuang LM. Vitamin D receptor gene polymorphisms influence susceptibility to type 1 diabetes mellitus in the Taiwanese population. Clin Endocrinol (Oxf) 2000; 52:575–580.MEDLINE
Direct Link:
39
Ban Y, Taniyama M. Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population. J Clin Endocrinol Metab 2000; 85:4639–4643.MEDLINE
40
Ban Y, Taniyama M, Katagiri T. Vitamin D receptor initiation codon polymorphism in Japanese patients with Graves' disease. Thyroid 2000; 10:475–480.MEDLINE
41
Niino M, Fukazawa T, Yabe I, Kikuchi S, Sasaki H, Tashiro K. Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles. J Neurol Sci 2000; 177:65–71.MEDLINE
42
Fukazawa T, Yabe I, Kikuchi S, Sasaki H, Hamada T, Miyasaka K, Tashiro K. Association of vitamin D receptor gene polymorphism with multiple sclerosis in Japanese. J Neurol Sci 1999; 166:47–52.MEDLINE
43
Springer JE, Cole DE, Rubin LA, Cauch-Dudek K, Harewood L, Evrovski J, Peltekova VD, et al. Vitamin D-receptor genotypes as independent genetic predictors of decreased bone mineral density in primary biliary cirrhosis. Gastroenterology 2000; 118:145–151.MEDLINE
44
Eccleshall TR, Garnero P, Gross C, Delmas PD, Feldman D. Lack of correlation between start codon polymorphism of the vitamin D receptor gene and bone mineral density in premenopausal French women: the OFELY study. J Bone Miner Res 1998; 13:31–35.MEDLINE
Direct Link:
45
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.MEDLINE
Direct Link:
46
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. J Bone Miner Res 1996; 11:1850–1855.MEDLINE
Direct Link:
47
Czaja AJ, Donaldson PT. Genetic susceptibilities for immune expression and liver cell injury in autoimmune hepatitis. Immunol Rev 2000; 174:250–259.MEDLINE
Direct Link:
48
Bittencourt PL, Goldberg AC, Cancado EL, Porta G, Laudanna AA, Kalil J. Different HLA profiles confer susceptibility to autoimmune hepatitis type 1 and 2. Am J Gastroenterol 1998; 93:1394–1395.MEDLINE
Direct Link:
49
Strettell MD, Thomson LJ, Donaldson PT, Bunce M, O'Neill CM, Williams R. HLA-C genes and susceptibility to type 1 autoimmune hepatitis. Hepatology 1997; 26:1023–1026.MEDLINE
Direct Link:
50
Underhill JA, Donaldson PT, Doherty DG, Manabe K, Williams R. HLA DPB polymorphism in primary sclerosing cholangitis and primary biliary cirrhosis. Hepatology 1995; 21:959–962.MEDLINE
Direct Link:
51
Manns MP, Kruger M. Immunogenetics of chronic liver diseases. Gastroenterology 1994; 106:1676–1697.MEDLINE
52
Thomasset M. [Vitamin D and the immune system]. Pathol Biol (Paris) 1994; 42:163–172.MEDLINE
53
Mocharla H, Butch AW, Pappas AA, Flick JT, Weinstein RS, De Togni P, Jilka RL, et al. Quantification of vitamin D receptor mRNA by competitive polymerase chain reaction in PBMC: lack of correspondence with common allelic variants. J Bone Miner Res 1997; 12:726–733.MEDLINE
Direct Link:
54
Verbeek W, Gombart AF, Shiohara M, Campbell M, Koeffler HP. Vitamin D receptor: no evidence for allele-specific mRNA stability in cells which are heterozygous for the Taq I restriction enzyme polymorphism. Biochem Biophys Res Commun 1997; 238:77–80.MEDLINE
55
Colin EM, Weel AE, Uitterlinden AG, Buurman CJ, Birkenhager JC, Pols HA, van Leeuwen JP. Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1, 25-dihydroxyvitamin D3. Clin Endocrinol (Oxf) 2000; 52:211–216.MEDLINE
Direct Link:
56
Ames SK, Ellis KJ, Gunn SK, Copeland KC, Abrams SA. Vitamin D receptor gene Fok1 polymorphism predicts calcium absorption and bone mineral density in children. J Bone Miner Res 1999; 14:740–746.MEDLINE
Direct Link:
57
Houston LA, Grant SF, Reid DM, Ralston SH. Vitamin D receptor polymorphism, bone mineral density, and osteoporotic vertebral fracture: studies in a UK population. Bone 1996; 18:249–252.MEDLINE

Get PDF (184K)

JOURNAL TOOLS

JOURNAL MENU

FIND ISSUES

FIND ARTICLES

GET ACCESS

FOR CONTRIBUTORS

ABOUT THIS JOURNAL

SPECIAL FEATURES

Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis

Hepatology

How to Cite

Author Information

Publication History

Funded by

ARTICLE TOOLS

References

More content like this

JOURNAL TOOLS

JOURNAL MENU

FIND ISSUES

FIND ARTICLES

GET ACCESS

FOR CONTRIBUTORS

ABOUT THIS JOURNAL

SPECIAL FEATURES

Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis

Hepatology

How to Cite

Author Information

Publication History

Funded by

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

References

More content like this