Association of the CYP27B1 C(- 1260)A polymorphism with autoimmune Addison's disease

Experimental and Clinical Endocrinology and Diabetes

Volumn 118, Issue 8, 2010, Pages 544-549

  Fichna, M ^a,b   Zurawek, M ^a   Januszkiewicz Lewandowska, D ^a,b   Gryczynska M ^b   Fichna, P ^b   Sowinski J ^b   Nowak, J ^a  

^a INSTITUTE OF HUMAN GENETICS   (Poland)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

Addison's disease; autoimmunity; CYP27B1; PDCD1; polymorphism

Indexed keywords

CYTOCHROME; CYTOCHROME P 27B1; PROGRAMMED DEATH 1 LIGAND 1; UNCLASSIFIED DRUG;

ADDISON DISEASE; ADULT; ALLELE; ARTICLE; AUTOIMMUNE DISEASE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; FEMALE; GENOTYPE; HUMAN; IMMUNE FUNCTION TEST; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; ADDISON DISEASE; ADULT; ANTIGENS, CD; APOPTOSIS REGULATORY PROTEINS; COHORT STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLAND; POLYENDOCRINOPATHIES, AUTOIMMUNE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 77956951397     PISSN: 09477349     EISSN: 14393646     Source Type: Journal    
DOI: 10.1055/s-0029-1241206     Document Type: Article

References (32)

1. Agata Y, Kawasaki A, Nishimura H et al. Expression of the PD-1 antigen on the surface of stimulated mouse T and B lymphocytes. Int Immunol 1996 8 765-772
2. Ansari MJ, Salama AD, Chitnis T et al. The programmed death-1 (PD-1) pathway regulates autoimmune diabetes in nonobese diabetic (NOD) mice. J Exp Med 2003 198 63-69
3. Arai H, Miyamoto KI, Yoshida M et al. The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene. J Bone Miner Res 2001 16 1256-1264
4. Asad S, Nikamo P, Torn C et al. Diabetes Incidence in Sweden Study Group: No evidence of association of the PDCD1 gene with type 1 diabetes. Diabet Med 2007 24 1473-1477
5. Bailey R, Cooper JD, Zeitels L et al. Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. Diabetes 2007 56 2616-2621
6. Bertsias GK, Nakou M, Choulaki C et al. Genetic, immunologic, and immunohistochemical analysis of the programmed death 1/programmed death ligand 1 pathway in human systemic lupus erythematosus. Arthritis Rheum 2009 60 207-218
7. Betterle C, Dal Pra C, Mantero F et al. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 2002 23 327-364
8. Bottini N, Musumeci L, Alonso A et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004 36 337-338
9. Carter L, Fouser LA, Jussif J et al. PD-1: PD-L inhibitory pathway affects both CD4(+) and CD8(+) T cells and is overcome by IL-2. Eur J Immunol 2002 32 634-643
10. Deluca HF, Cantorna MT. Vitamin D: its role and uses in immunology. FASEB J 2001 15 2579-2585
11. Erichsen MM, Lovas K, Fougner KJ et al. Normal overall mortality rate in Addison's disease, but young patients are at risk of premature death. Eur J Endocrinol 2009 160 233-237
12. Fournier C, Gepner P, Sadouk M et al. In vivo beneficial effects of cyclosporine A and 1,25-dihydroxyvitamin D3 on the induction of experimental autoimmune thyroiditis. Clin Immunol Immunopathol 1990 54 53-63
13. Higgins JP, Green S. Cochrane Handbook for Systematic Reviews of Interventions Version 5.0.1 2008 www.cochrane-handbook.org
14. Hyppnen F, Läärä E, Reunanen A et al. Intake of vitamin D and risk of type 1 diabetes: A birth-cohort study. Lancet 2001 358 1500-1503
15. Jennings CE, Owen CJ, Wilson V et al. A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves disease in a UK population. J Mol Endocrinol 2005 34 859-863
16. Kim CJ, Kaplan LE, Perwad F et al. Vitamin D 1apha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J Clin Endocrinol Metab 2007 92 3177-3182
17. Lee YH, Woo JH, Choi SJ et al. Association of programmed cell death 1 polymorphisms and systemic lupus erythematosus: A meta-analysis. Lupus 2009 18 9-15
18. Mathieu C, Waer M, Laureys J et al. Prevention of autoimmune diabetes in NOD mice by 1,25 dihydroxyvitamin D3. Diabetologia 1994 37 552-558
19. Myhre AG, Undlien DE, Lovas K et al. Autoimmune adrenocortical failure in Norway autoantibodies and human leukocyte antigen class II associations related to clinical features. J Clin Endocrinol Metab 2002 87 618-623
20. Nagamine K, Peterson P, Scott HS et al. Positional cloning of the APECED gene. Nature Genet 1997 17 393-398
21. Neufeld M, Blizzard RM. Polyglandular autoimmune diseases. In: Pinchera A, Doniach D, Fenzi GF, Baschieri L, eds. Symposium on autoimmune aspects of endocrine disorders Academic Press, New York 1980 357-365
22. Nielsen C, Hansen D, Husby S et al. Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 2003 62 492-497
23. Panda DK, Miao D, Tremblay ML et al. Targeted ablation of the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc Natl Acad Sci USA 2001 98 7498-7503
24. Pozzilli P, Manfrini S, Crino A, etal. IMDIAB group Low levels of 25-hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3 in patients with newly diagnosed type 1 diabetes. Horm Metab Res 2005 37 680-683
25. Prokunina L, Castillejo-Lpez C, berg F et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 2002 32 666-669
26. Ramos-Lopez E, Zwermann O, Segni M et al. A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves disease and type 1 diabetes mellitus in Germans. Eur J Endocriol 2004 151 193-197
27. Ramos-Lopez E, Br̈ck P, Jansen T et al. CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients. J Steroid Biochem Mol Biol 2007 103 807-810
28. Sakthivel P, Ramanujam R, Wang XB et al. Programmed Death-1: from gene to protein in autoimmune myasthenia gravis. J Neuroimmunol 2008 193 149-155
29. Sutherland A, Davies J, Owen CJ et al. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves disease susceptibility. J Clin Endocrinol 2007 92 3338-3341
30. Torkildsen O, Knappskog PM, Nyland HI et al. Vitamin D-dependent rickets as a possibile risk factor for multiple sclerosis. Arch Neurol 2008 65 809-811
31. Wellcome Trust Case Control Consortium. Genome-wide association study of 14000 cases of seven common diseases and 3000 shared controls. Nature 2007 447 661-678
32. Wellcome Trust Case Control Consortium. Association scan of 14500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007 39 1329-1337