Association of genetic polymorphisms and autoimmune Addison's disease

Expert Review of Clinical Immunology

Volumn 4, Issue 4, 2008, Pages 441-456

  Falorni, Alberto ^a   Brozzetti, Annalisa ^b   La Torre, Daria ^b   Tortoioli, Cristina ^b   Gambelunghe, Giovanni ^b  

^a Section of Internal Medicine and Endocrine and Metabolic Sciences   (Italy)

^b UNIVERSITY OF PERUGIA   (Italy)

Author keywords

21 hydroxylase autoantibody; CTLA 4; Endogenous retrovirus; HLA; MHC; MHC2TA; MIC gene; Prediction; Primary adrenal insufficiency; Vitamin D receptor

Indexed keywords

AUTOANTIBODY; AUTOIMMUNE REGULATOR PROTEIN; CELL PROTEIN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; HLA ANTIGEN CLASS 2; HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DR ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2 TRANSACTIVATOR PROTEIN; PROTEIN PTPN22; STEROID 21 MONOOXYGENASE; TRANSACTIVATOR PROTEIN; VITAMIN D RECEPTOR;

ADDISON DISEASE; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY; AUTOIMMUNITY; CELLULAR IMMUNITY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HETEROZYGOSITY; HLA MATCHING; HUMAN; IMMUNOPATHOGENESIS; NONHUMAN; RETROVIRUS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 46149091743     PISSN: 1744666X     EISSN: None     Source Type: Journal    
DOI: 10.1586/1744666X.4.4.441     Document Type: Review

References (132)

1. Laureti S, Vecchi L, Santeusanio F, Falorni A. Is the prevalence of Addison's disease underestimated? J. Clin. Endocrinol. Metab. 84, 1762 (1999).
2. Lovas K, Husebye ES. High prevalence and increasing incidence of Addison's disease in western Norway. Clin. Endocrinol. (Oxf) 56, 787-791 (2002).
3. Oelkers W. Adrenal insufficiency. N. Engl. J. Med. 335, 1206-1212 (1996).
4. Betterle C, Dal Pra C, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr. Rev. 23, 327-364 (2002).
5. Nomura K, Depura H, Saruta T. Addison's disease in Japan: characteristics and changes revealed in a nationwide survey. Intern. Med. 33, 602-606 (1994).
6. Aubourg P. On the front of X-linked adrenoleukodystrophy. Neurochem. Res. 24, 515-520 (1999).
7. McCabe ER. DAX1: increasing complexity in the roles of this novel nuclear receptor. Mol. Cell. Endocrinol. 265-266, 179-182 (2007).
8. Achermann JC, Ito M, Ito M, Hindmarsch PC, Jameson JL. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat. Genet. 22, 125-126 (1999).
9. Clark AJ, McLoughlin L, Grossman A. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 341, 461-462 (1993).
10. Weber A, Wienker TF, Jung M et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene duster. Hum Mol. Genet. 5, 2061-2066 (1996).
11. North K, Korson MS, Krawiecki N, Shoffner JM, Holm IA. Oxidative phosphorylation defect associated with primary adrenal insufficiency. J. Pediatrics 128, 688-692 (1996).
12. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. Adrenal insufficiency in Smith-Lemli-Opitz syndrome. Am. J. Med Genet. 82, 382-384 (1999).
13. Blizzard RM, Kyle MA. Studies of the adrenal antigens and antibodies in Addison's disease. J. Clin. Invest. 42, 1653-1660 (1963).
14. Sotsiou F, Bottazzo GF, Doniach D. Immunofluorescence studies on autoantibodies to steroid-producing cells and to germline cells in endocrine diseases and infertility. Clin. Exp. Immunol. 39, 97-111 (1980).
15. Winqvist O, Karlsson FA, Kämpe O. 21-hydroxylase, a major autoantigen in idiopathic Addison's disease. Lancet 339, 1559-1562 (1992).
16. Bednarek J, Furmaniak J, Wedlock N et al. Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease. FEBS Lett. 309, 51-55 (1992).
17. Furmaniak J, Kominami S, Asawa T, Wedlock N, Colls J, Smith BR. Autoimmune Addison's disease-evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency. J. Clin. Endocrinol. Metab. 79, 1517-1521 (1994).
18. Boscaro M, Betterle C, Volpato M et al. Hormonal responses during various phases of autoimmune adrenal failure: no evidence for 21-hydroxylase enzyme activity inhibition in vivo. J. Clin. Endocrinol. Metab. 81, 2801-2804 (1996).
19. Laureti S, Candeloro, P, Aglietti MC et al. Dehydroepiandrosterone, 17α-hydroxyprogesterone and aldosterone responses to the low-dose (1 μg) ACTH test in subjects with preclinical adrenal autoimmunity. Clin. Endocrinol. (Oxf.) 57, 677-683 (2002).
20. Falorni A, Nikoshkov A, Laureti S et al. High diagnostic accuracy for idiopathic Addison's disease with a sensitive radiobinding assay for autoantibodies against recombinant human 21-hydroxylase. J. Clin. Endocrinol. Metab. 80, 2752-2755 (1995).
21. Colls J, Betterle C, Volpato M, Prentice L, Smith BR, Furmaniak J. Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases. Clin. Chem. 41, 375-380 (1995).
22. Tanaka H, Perez MS, Powell M et al. Steroid 21-hydroxylase autoantibodies: measurements with a new immunoprecipitation assay. J. Clin. Endocrinol. Metab. 82, 1440-1446 (1997).
23. Falorni A, Laureti S, Santeusanio F. Autoantibodies in autoinimune polyendocrine syndrome type II. Endocrinol. Metab. Clin. N. Am. 31, 369-389 (2002).
24. Falorni A, Laured S, Nikoshkov A et al. 21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Clin. Exper. Immunol. 107, 341-345 (1997).
25. Laureti S, Aubourg P, Calcinaro F et al. Etiological diagnosis of primary adrenal insufficiency using an original flow-chart of immune and biochemical markers. J. Clin. Endocrinol. Metab. 83, 3163-3168 (1998).
26. Falorni A, Laureti S, De Bellis A et al. Italian Addison Network Study: update of diagnostic criteria for the etiological classification of primary adrenal insufficiency. J Clin. Endocrinol. Metab. 89, 1598-1604 (2004).
27. da Carmo S i1va R, Kater CE, Dib SA et al. Autoantibodies against recombinant human steroidogenic enzyme 21-hydroxylase, side-chain cleavage and 17α-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III. Eur. J. Endocrinol. 142, 187-194 (2000).
28. Laureti S, De Bellis A, Muccitelli VI et al. Levels of adrenocortical autoantibodies correlate with the degree of adrenal dysfunction in subjects with pre-clinical Addison's disease. J. Clin. Endocrinol. Metab. 83, 3507-3511 (1998).
29. Betterle C, Volpato M, Rees Smith B et al. I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease. J. Clin. Endocrinol. Metab. 82, 932-938 (1997).
30. Coco G, Dal Pra C, Presotto F et al. Estimated risk for developing autoimmune Addison's disease in patients with adrenal cortex autoantibodies. J. Clin. Endocrinol. Metab. 91, 1637-1645 (2006).
31. Falorni A, Laureti S. Adrenal autoimmunity and correlation with adrenal dysfunction. Endocrinologist 10, 145-154 (2000).
32. Laurenti S, Arvat E, Di Vito L et al. Low (1 μg) dose ACTH test in the evaluation of adrenal dysfunction in preclinical Addison's disease. Clin. Endocrinol. (Oxf.) 53, 107-115 (2000).
33. The Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat. Genet. 17, 399-403 (1997).
34. Tuomi T, Björses P. Falorni A et al. Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. J. Clin. Endocrinol. Metab. 81, 488-1494 (1996).
35. Betterle C, Greggio NA, Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J. Clin. Endocrinol. Metab. 83, 1049-1055 (1998).
36. Halonen M, Eskelin P, Myhre AG et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J. Clin. Endocrinol. Metab. 87, 2568-2574 (2002).
37. Robles DT, Fain PR, Eisenbarth GS. The genetics of autoimmune polyendocrine syndrome type II. Endocrinol. Metab. Clin. N. Am. 31, 353-368 (2002).
38. Freeman M, Weetman AP. T and B cell reactivity to adrenal antigens in autoimmune Addison's disease. Clin. Exp. Immunol. 88, 275-279 (1992).
39. Hayashi Y, Hiyoshi T, Takemura T, Kurashima. C, Hirokawa K. Focal lymphocytic infiltration in the adrenal cortex of the elderly: immunohistological analysis of infiltrating lymphocytes. Clin. Exp. Immunol. 77, 101-105 (1989).
40. Nerup J, Andersen V, Bendixen G. Anti-adrenal, cellular hypersensitivity in Addison's disease. Clin. Exp. Immunol. 4, 355-363 (1969).
41. Nerup, J, Andersen V, Bendixen G. Anti-adrenal, cellular hypersensitivity in Addison's disease. IV. In vivo and in vitro investigations on the mitochondrial fraction. Clin. Exp. Immunol. 6, 733-739 (1970).
42. Rabinowe SL, Jackson RA, Dluhy RG, Williams GH. Ia-positive T lymphocytes in recently diagnosed idiopathic Addison's disease. Am. J. Med. 77, 597-601 (1984).
43. + regulatory T cells in autoimmune polyglandular syndrome type II. J. Exp. Med. 199, 1285-1291 (2004).
44. Husebye ES, Bratland E, Bredholt G, Fridkin M, Dayan M, Mozes E. The substrate-binding domain of 21-hydroxylase, the main autoantigen in autoimmune Addison's disease, is an immunodminant T cell epitope. Endocrinology 147, 2411-2416 (2006).
45. Peterson P, Pitkänen J, Sillanpää N, Krohn K. Autoimmune polyendocrinopatby candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity. Clin. Exp. Immunol. 135, 348-357 (2004).
46. Pitkänen J, Vähämurto P, Krohn K et al. Subcellular localization of the autoimmune regulator protein. Characterization of nuclear targeting and transcriptional activation domain. J. Biol. Chem. 276, 19597-19602 (2001).
47. Björses P, Halonen M, Palvimo JJ et al. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am. J. Hum. Genet. 66, 378-392 (2000).
48. Pitkänen J, Doucas V, Sternsdorf T et al. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J. Biol. Chem. 275, 16802-16809 (2000).
49. Ramsey C, Bukrinsky A, Peltonen L. Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting. Hum. Mol. Genet. 11, 3299-3308 (2002).
50. Bottomley MJ, Collard MW, Huggenvik JI et al. The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation. Nat. Struct. Biol. 8, 626-33 (2001).
51. Söderbergh A, Rorsman F, Halonen M et al. Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison's disease. J. Clin. Endocrinol. Metab. 85, 460-463 (2000).
52. Vaidya B, Imrie H, Gearch DR et al. Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease. J. Clin. Endocrinol. Metab. 85, 688-691 (2000).
53. Bøe Wolff AS, Oftedal B, Johansson S et al. AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes Immun. 9, 130-136 (2008).
54. Ramsey C, Winqvist O, Puhakka L et al. Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum. Mol. Genet. 11, 397-409 (2002).
55. Anderson MS, Venanzi ES, Klein L et al. Projection of an immunological self shadow within the thymus by the aire protein. Science 298, 1395-1401 (2002).
56. Thomsen M, Platz P, Andersen OO et al. MLC typing in juvenile diabetes mellitus and idiopathic Addison's disease. Transplant. Rev. 22, 125-147 (1975).
57. Eisenbarth G, Wilson P, Ward F, Lebovitz HE. HLA type and occurrence of disease in familial polyglandular failure. N. Engl. J. Med. 298, 92-94 (1978).
58. Eisenbarth GS, Wilson PW, Ward F, Buckley C, Lebovita H. The polyglandular failure syndrome: disease inheritance, HLA type, and immune function. Ann. Intern. Med. 91, 528-533 (1979).
59. Valenta LJ, Bull RW, Hackel E, Rottazzo GF. Correlation of the HLA-A1, B8 haplotypes with circulating autoantibodies in a family with increased incidence of autoimmune disease. Acta Endocrinol. (Copenh.) 100, 143-149 (1982).
60. Butler MG, Hodes ME, Conneally PM, Biegel AA, Wright JC. Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome). Am. J. Med. Genet. 18, 61-65 (1984).
61. Maclaren NK, Riley WJ. Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome. J. Clin. Endocrinol. Metab. 62, 455-459 (1986).
62. Latinne D, Vandeput Y, De Bruyere M, Bottazzo F, Sokal G, Crabbe J. Addison's disease: immunological aspects. Tissue Antigens 30, 23-24 (1987).
63. Boehm BO, Manfras B, Seidl S et al. The HLA-DQ β non-Asp-57 allele: a predictor of future insulin-dependent diabetes mellitus in patients with autoimmune Addison's disease. Tissue Antigens 37, 130-132 (1991).
64. Weetman AP, Zhang L, Tandon N, Edwards OM. HLA associations with autoimmune Addison's disease. Tissue Antigens 38, 31-33 (1991).
65. Partanen J, Peterson P, Westman P, Aranko S, Krohn K. Major histocompatibility complex class II and III in Addison's disease. MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility. Hum. Immunol. 41, 135-140 (1994).
66. Badenhoop K, Walfish PG, Rau H et al. Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease. J. Clin. Endocrinol. Metab. 80, 2112-2117 (1995).
67. Betterle C, Volpato M, Rees Smith B et al. I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease. J. Clin. Endocrinol. Metab. 82, 932-938 (1997).
68. Yu L, Brewer KW, Gates S et al. DRB1 *04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease. J. Clin. Endocrinol. Metab. 84, 328-335 (1999).
69. Gambelunghe G, Falorni A, Ghaderi M et al. Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease. J. Clin. Endocrinol. Metab. 84, 3701-3707 (1999).
70. Myhre AG, Undlien DE, Løvås K et al. Autoimmune adrenocortical failure in Norway autoantibodies and human leukocyte antigen class II associations related to clinical features. J. Clin. Endocrinol. Metab. 87, 618-623 (2002).
71. Wallaschofski H, Meyer A, Tuschy U, Lohmann T. HLA-DQA1*0301-associated susceptibility for autoimmune polyglandular syndrome type II and III. Horm. Metab. Res. 35, 120-124 (2003).
72. Gambelunghe G, Kockum I, Bini V et al. Retrovirus-like long terminal repeat DQ-LTR13 and genetic susceptibility to type 1 diabetes mellitus and autoimmune Addison's disease. Diabetes 54, 900-905 (2005).
73. Barker JM, Ide A, Hostetler C et al. Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population. J. Clin. Endocrinol. Metab. 90, 128-134 (2005).
74. Gombos Z, Hermann R, Kiviniemi M et al. Analysis of extended human leukocyte antigen haplotype association with Addison's disease in three populations. Eur. J. Endocrinol. 157, 757-761 (2007).
75. Michelsen B, Lernmark Å. Molecular cloning of a polymorphic DNA endonuclease fragment associates insulin-dependent diabetes mellitus with HLA-DQ. J. Clin. Invest. 79, 1144-1152 (1987).
76. Chase K, Sargan D, Miller K, Ostrander EA, Lark KG. Understanding the genetic of autoimmune disease: two loci that regulate late onset Addison's disease in Portuguese Water Dogs. Int. J. Immunogenet. 33, 179-184 (2006).
77. Rønningen KS, Keiding N, Green A, EURODIAB ACE Study Group. Correlations between the incidence of childhood-onset Type I diabetes in Europe and HLA genotypes. Diabetologia 44(Suppl. 3), B51-B59 (2001).
78. Jackson R, McNicol AM, Farquharson M, Foulis AK. Class II MHC expression in normal adrenal cortex and cortical cells in autoimmune Addison's disease. J. Pathol. 155, 113-120 (1988).
79. Lander ES, Linton LM, Birren B et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
80. Leib-Mösch C, Haltmeier M, Werner T et al. Genomic distribution and transcription of solitary HERV-K LTRs. Genomics 18, 261-269 (1993).
81. Kambhu S, Falldorf P, Lee JS. Endogenous retroviral long terminal repeats within the HLA-DQ locus. Proc. Natl Acad. Sci. USA 87, 4927-4931 (1990).
82. Donner H, Tönjes RR, Van der Auwera B et al. The presence or absence of a retroviral long terminal repeat influences the genetic risk for Type 1 diabetes conferred by human leukocyte antigen DQ haplotypes. J. Clin. Endocrinol. Metab. 84, 1404-1408 (1999).
83. Pascual M, Martin J, Nieto A et al. Distribution of HERV-LTR elements in the 5′-flanking region of HLA-DQB1 and association with autoimmunity. Immunogenetics 53, 114-118 (2001).
84. Pani MA, Seidl C, Bieda K et al. Preliminary evidence that an endogenous retroviral long-terminal repeat (LTR13) at the HLA-DQB1 gene locus confers susceptibility to Addison's disease. Clin. Endocrinol. (Oxf.) 56, 773-777 (2002).
85. Donner H, Tönjes RR, Bontrop RE, Kurth R, Usadel KH, Badenhoop K. MHC diversity in Caucasians, investigated using highly heterogeneous noncoding sequence motifs at the DQB1 locus including a retroviral long terminal repeat element, and its comparison to nonhuman primate homologues. Immunogenetics 51, 898-904 (2000).
86. Bieda K, Pani MA, Van der Auwera B et al. A retroviral long terminal repeat adjacent to the HLA DQB1 gene (DQ-LTR13) modifies Type I diabetes susceptibility on high risk DQ haplotypes. Diabetologia 45, 443-447 (2002).
87. Krach K, Badenhoop K, Tönjes RR. The IDDM-associated solitary retroviral promoters DQ-LTR3 and DQ-LTR13 have a distinct impact on the expression of selected DQB1 genes in different cell lines in vitro. Immunogenetics 55, 521-529 (2003).
88. Reichstetter S, Krellner PH, Meenzen CM, Kalden JR, Wassmuth R. Comparative analysis of sequence variability in the upstream regulatory region of the HLA-DQB1 gene. Immunogenetics 39, 207-212 (1994).
89. Bahram S. Mizuki N, Inoko H, Spies T. Nucleotide sequence of a human MHC class I MICA gene. Immunogenetics 44, 80-81 (1996).
90. Bahram S. MIC genes: from genetics to biology. Adv. Immunol. 76, 1-60 (2000).
91. Groh V, Rhinehart R, Randolph-Habecker J, Topp MS, Riddell SR, Spies T. Co-stimulation of CD8αβ T cells via engagement by MIC induced on virus-infected cells. Nat. Immun. 2, 255-260 (2001).
92. Yamamoto K, Fujiyama Y, Andoh A, Bamba T, Okabe H. Oxidative stress increases MICA and MICB gene expression in the human colon carcinoma cell line. Biochem. Biophys. Acta 1526, 10-12 (2001).
93. Groh V, Steinle A, Bauer S, Spies T. Recognition of stress-induced MHC molecules by intestinal epithelial γδ T cells. Science 279, 1737-1740 (1998).
94. Groh V, Rhinehart R, Secrist H, Bauer S, Grabstein KH, Spies T. Broad tumour associated expression and recognition by tumour-derived γδ T cells of MICA and MICB. Proc. Natl Acad. Sci. USA 96, 6879-6884 (1999).
95. Zwirner NW, Fernandez-Miña MA, Stastny P. MICA, a new polymorphic HLA related antigen, is expressed mainly by keratinocytes, endothelial cells and monocytes. Immunogenetics 47, 139-148 (1998).
96. Groh V, Bahram S, Bauer S, Herman A, Beauchamp M, Spies T. Cell stress-regulated human major histocompatibility complex class I gene expressed in gastrointestinal epithelium. Proc. Natl Acad. Sci. USA 93, 12445-12450 (1996).
97. Bauer S, Groh V, Wu J et al. Activation of NK cells and T cells by NKG2D, a receptor for stress-inducible MICA. Science 285, 727-729 (1999)
98. Li P, Morris DL, Willcox BE, Steinle A, Spies T, Strong RK. Complex structure of the activating immunoreceptor NKG2D and its MHC class I-like ligand MICA. Nat. Immunol. 2, 443-451 (2001).
99. Ota M, Katsuyama Y, Mizuki N et al. Trinucleotide repeat polymorphism within exon 5 of the MICA gene (MHC class I chain-related gene A): allele frequency data in the nine population groups Japanese, Northern Han, Hui, Uygur, Kazakhstan, Iranian, Saudi Arabian, Greek and Italian. Tissue Antigens 49, 448-454 (1997).
100. Fodil N, Laloux N, Wanner P et al. Allelic repertoire of the human MHC class I MICA gene. Immunogenetics 44, 351-357 (1996).
101. Ricci Vitiani L, Potolicchio I, D'Amato M, Baricordi OR, Sorrentino R. MICA exon 5 microsatellite typing by DNA heteroduplex analysis: a new polymorphism in the transmembrane region. Tissue Antigens 51, 309-311 (1998).
102. Perez-Rodriguez M, Corell A, Arguello JR et al. A new MICA allele with ten alanine residues in the exon 5 microsatellite. Tissue Antigens 55, 162-165 (2000).
103. Rueda B, Pascual M, López-Nevot MA, González E, Martín J. A new allele within the transmembrane region of the human MICA gene with seven GCT repeats. Tissue Antigens 60, 526-528 (2002).
104. Gambelunghe G, Brozzetti A, Ghaderi M, Tortoioli C, Falorni A. MICA8: a new allele within MHC class I chain-related A transmembrane region with eight GCT repeats. Hum. Immunol. 67, 1005-1007 (2006).
105. Park YS, Sanjeevi CB, Robles D et al. Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease. Tissue Antigens 60, 155-163 (2002).
106. Leibund Gut-Landmann S, Waldburger JM, Krawczyk M et al. Specificity and expression of CIITA, the master regulator of MHC class II genes. Eur. J. Immunol. 34, 1513-1525 (2004).
107. Harton JA, Ting JP. Class II transactivator: mastering the art of major histocompatibility complex expression. Mol, Cell. Biol. 20, 6185-6194 (2000).
108. Ting JP, Trowsdale J. Genetic control of MHC class II expression. Cell 109, S21-S33 (2002).
109. Patarroyo JC, Stuve O, Piskurich JF, Hauser SL, Oksenberg JR, Zamvil SS. Single nucleotide polymoprhisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA). Genes Immun. 3, 34-37 (2002).
110. Koizumi K, Okamoto H, Iikuni N et al. Single nucleotide polymoprhisms in the gene encoding the major histocompatibility complex class II transactivator (CIITA) in systemic lupus erythematosus. Ann. Rheum. Dis. 64, 947-950 (2006).
111. Swanberg M, Lidman O, Padyukov L et al. MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat. Genet. 37, 486-494 (2005).
112. Rassmussen HB, Kelly MA, Clausen J. Genetic susceptibility to multiple sclerosis: detection of polymorphic nucleotides and an intron in the 3′ untranslated region of the major histocompatibility complex class II transactivator gene. Hum. Immunol. 62, 371-377 (2001).
113. Sartoris S, Brendolan A, Degola A et al. Analysis of CIITA encoding AIR-1 gene promoters in insulin-dependent diabetes mellitus and rheumatoid arthritis patients from the northeast of Italy: absence of sequence variability. Hum. Immunol. 61, 599-604 (2000).
114. Akkad DA, Jagiello P, Szyld P et al. Promoter polymorphism rs3087456 in the MHC class II transactivator gene is not associated with susceptibility for selected autoimmune diseases in German patient groups. Int. J. Immunogenet. 33, 59-61 (2006).
115. Yazdani-Biuki B, Brickmann K, Wohlfahrt K et al. The MHC2TA -168A>G gene polymorphism is not associated with rheumatoid arthritis in Austrian patients. Arthritis Res. Ther. 8(4), R97 (2006).
116. Linga-Reddy MV, Gunnarsson I, Svenungsson E et al. A polymorphic variant in the MHC2TA gene is not associated with systemic lupus erythematosus. Tissue Antigens 70, 412-414 (2007).
117. Ghaderi M, Gambelunghe G, Tortoioli C et al. MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency. J. Clin. Endocrinol. Metab. 91, 4107-4111 (2006).
118. Grohmann U, Orabona C, Fallarino F et al. CTLA-4-Ig regulates tryptophan catabolism in vivo. Nature Immunol. 3, 1097-1101 (2002).
119. Vaidya B, Pearce S. The emerging role of the CTLA-4 gene in autoimmune endocrinopathies. Eur. J. Endocrinol. 150, 619-626 (2004).
120. Donner H, Braun J, Seidl C et al. Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. J. Clin. Endocrinol. Metab. 82, 4130-4132 (1997).
121. Kemp EH, Ajjan RA, Husebye ES et al. A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients. Clin. Endocrinol. 49, 609-613 (1998).
122. Pani MA, Seissler J, Usadel KH, Badenhoop K. Vitamin D receptor genotype is associated with Addison's disease. Eur. J. Endocrinol. 147, 635-640 (2002).
123. Lopez ER, Zwermarm 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. Endocrinol. 151, 193-197 (2004).
124. Smith MW, Carrington M, Winkler C et al. Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Science 277, 959-965 (1997).
125. Horuk R. Chemokine receptors. Cytokine Growth Factor Rev. 12, 313-335 (2001).
126. Gambelunghe G, Ghaderi M, Brozzetti A et al. CCR2-641 and CCR5-Δ32 are not associated with autoimmune Addison's disease. Eur. J. Immunogenet. 31, 73-76 (2004).
127. Fischereder M, Luckow B, Hocher B et al. CC chemokine receptor 5 and renal-transplant survival. Lancet 357, 1758-1761 (2001).
128. Garred P, Madsen HO, Petersen J et al. CC chcmokine receptor 5 polymorphism in rheumatoid artrhritis. J. Rheumatol. 25, 1462-1465 (1998).
129. Hall IP, Wheatley A, Christie G, McDougall C, Hubbard R, Helms PJ. Association of CCR5 δ32 with reduced risk of asthma. Lancet 354, 1264-1265 (1999).
130. Velaga MR, Wilson V, Jennings CE et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP gene is a major determinant of Graves' disease. J. Clin. Endocrinol. Metab. 89, 5862-5865 (2004).
131. Kahles H, Ramos-Lopez E, Lange B, Zwermann O, Reincke M, Badenhoop K. Sex-specific association of PTPN22 1858T with Type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population. Eur. J. Endocrinol. 153, 895-899 (2005).
132. Skinningsrud B, Husebye ES, Gervin K et al. Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. Eur. J. Hum. Genet. DOI: 10.1038/ejhg.2008,33 (2008) (Epub ahead of print).