DRB1*04 and DQ alleles: Expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 1, 1999, Pages 328-335

  Yu, Liping ^a   Brewer, Karl W ^a   Gates, Sherman ^b   Wu, Anya ^b   Wang, Tianbao ^a   Babu, Sunanda R ^a   Gottlieb, Peter A ^a   Freed, Brian M ^a   Noble, Janelle ^e   Erlich, Henry A ^c   Rewers, Marian J ^a   Eisenbarth, George S ^a,d  

^a UNIVERSITY OF COLORADO   (United States)

^b STRATTON VA MEDICAL CENTER   (United States)

^c ROCHE MOLECULAR SYSTEMS   (United States)

^d UNIVERSITY OF COLORADO DENVER   (United States)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; HYDROCORTISONE; STEROID 21 MONOOXYGENASE; HLA DQ ANTIGEN; HLA DR ANTIGEN; HLA-DRB1 ANTIGEN;

ADRENAL CORTEX INSUFFICIENCY; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE FREQUENCY; GENETIC RISK; GENOTYPE; HETEROZYGOSITY; HLA TYPING; HUMAN; HYDROCORTISONE BLOOD LEVEL; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RISK FACTOR; ADDISON DISEASE; ADOLESCENT; ADULT; BLOOD; CHILD; GENETICS; IMMUNOLOGY; INFANT; MIDDLE AGED; PRESCHOOL CHILD; RISK;

ADDISON DISEASE; ADOLESCENT; ADULT; ALLELES; AUTOANTIBODIES; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 1; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; INFANT; MIDDLE AGED; RISK; STEROID 21-HYDROXYLASE;

EID: 0032590058     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.1.328     Document Type: Article

References (43)

1. 1. Neufeld M, Maclaren NK, Blizzard RM. 1981 Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine. 60:355-362.
2. 2. Eisenbarth GS, Wilson P, Ward F, Lebovitz HE. 1978 HLA type and occurrence of disease in familial polyglandular failure. N Engl J Med. 298:92-94.
3. 3. Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. 1990 Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 322:1829-1836.
4. 4. Aaltonen J, Björses P, Sandkuijl L, Perheentupa J, Peltonen L. 1994 An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet. 8:83-87.
5. 5. Verge C, Eisenbarth GS. 1998 Autoimmune polyendocrine syndromes. In: Wilson JD, Foster DW, eds. Williams' textbook of endocrinology, 9th ed. Philadephia: Saunders; 1651-1662.
6. 6. Aaltonen J, Björses P, Perheentupa J, et al. 1997 An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet. 17:399-403.
7. 7. Badenhoop K, Walfish PG, Rau H, et al. 1995 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.
8. 8. Partanen J, Peterson P, Westman P, Aranko S, Krohn K. 1994 Major histocompatibility complex class I and II in Addison's disease. MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease specificity. Hum Immunol. 41:135-140.
9. 9. Boehm BO, Manfras B, Seidl S, et al. 1991 The HLA-DQβ non-Asp-57 allele: a predictor of future insulin-dependent diabetes mellitus in patients with autoimmune Addison's disease. Tissue Antigens. 37:130-132.
10. 10. Betterle C, Volpato M, Rees Smith B, et al. 1997 II. Adrenal cortex and steroid 21-hydroxylase autoantibodies in children with organ-specific autoimmune diseases: markers of high progression to clinical Addison's disease. J Clin Endocrinol Metab. 82:939-942.
11. 11. Falorni A, Laureti S, Nikoshkov A, et al. 1997 21-Hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Clin Exp Immunol. 107:341-346.
12. 12. Falorni A, Nikoshkov A, Laureti S, et al. 1995 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.
13. 13. Furmaniak J, Kominami S, Asawa T, Wedlock N, Colls J, Rees Smith B. 1994 Autoimmune Addison's disease - evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency. J Clin Endocrinol Metab. 79:1517-1521.
14. 14. Uibo R, Aavik E, Peterson P, et al. 1994 Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. J Clin Endocrinol Metab. 78:323-328.
15. 15. Muir A, Schatz D, Maclaren NK. 1993 Autoimmune Addison's disease. Semin Immunopathol. 14:275-284.
16. 16. Winqvist O, Karlsson FA, Kampe O. 1992 21-Hydroxylase, a major autoantigen in idiopathic Addison's disease. Lancet. 339:1559-1562.
17. 17. Wedlock N, Asawa T, Baumann-Antczak A, Rees Smith B, Furmaniak J. 1993 Autoimmune Addison's disease. Analysis of autoantibody binding sites on human steroid 21-hydroxylase. FEBS Lett. 332:123-126.
18. 18. Brewer KW, Parziale VS, Eisenbarth GS. 1997 Screening patients with insulin-dependent diabetes mellitus for adrenal insufficiency. N Engl J Med. 337:202.
19. 19. Czarnocka B, Ruf J, Ferrand M, Carayon P, Lissitzky S. 1985 Purification of the human thyroid peroxidase and its identification as the microsomal antigen involved in autoimmune thyroid disease. FEBS Lett. 190:147-152.
20. 20. Baekkeskov S, Aanstoot H-J, Christgau S, et al. 1990 Identification of the 64K autoantigen in insulin-dependent diabetes as the GABA-synthesizing enzyme glutamic acid decarboxylase. Nature. 347:151-156.
21. 21. Grubin CE, Daniels T, Toivola B, et al. 1994 A novel radioligand binding assay to determine diagnostic accuracy of isoform-specific glutamic acid decarboxylase antibodies in childhood IDDM. Diabetologia. 37:344-350.
22. 22. Rabin DU, Pleasic SM, Palmer-Crocker R, Shapiro JA. 1992 Cloning and expression of IDDM-specific human autoantigens. Diabetes. 41:183-186.
23. 23. Kawasaki E, Button JC, Eisenbarth GS. 1996 Molecular cloning and characterization of the human transmembrane protein tyrosine phosphatase homologue, phogrin, an autoantigen of type 1 diabetes. Biochem Biophys Res Commun. 227:440-447.
24. 24. Colls J, Betterle C, Volpato M, Prentice L, Smith BR, Furmaniak J. 1995 Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases. Clin Chem. 41:375-380.
25. 25. Tanaka H, Perez MS, Powell M, Chen S, et al. 1997 Steroid 21-hydroxylase autoantibodies: measurements with a new immunoprecipitation assay. J Clin Endocrinol Metab. 82:1440-1446.
26. 26. Bednarek J, Furmaniak J, Wedlock N, et al. 1992 Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease. FEBS Lett. 309:51-55.
27. 27. Li Y, Song Y-H, Rais N, et al. 1996 Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest. 97:910-914.
28. 28. Gianani R, Verge CF, Moromisato-Gianani RI, et al. 1996 Limited loss of tolerance to islet autoantigens in ICA+ first degree relatives of patients with type I diabetes expressing the HLA DQB1*0602 allele. J Autoimmun. 9:423-425.
29. 29. Pugliese A, Gianani R, Moromisato R, et al. 1995 HLA-DQB1*0602 is associated with dominant protection from diabetes even among islet cell antibody-positive first degree relatives of patients with IDDM. Diabetes. 44:608-613.
30. 30. Lipton RB, Kocova M, LaPorte RE, et al. 1992 Autoimmunity and genetics contribute to the risk of insulin-dependent diabetes mellitus in families: islet cells antibodies and HLA DQ heterodimers. Am J Epidemiol. 136:503-512.
31. 31. Rewers M, Bugawan TL, Norris JM, et al. 1996 Newborn screening for HLA markers associated with IDDM: diabetes autoimmunity study in the young (DAISY). Diabetologia. 39:807-812.
32. 32. Erlich HA, Zeidler A, Chang J, et al. 1993 HLA class II alleles and susceptibility and resistance to insulin dependent diabetes mellitus in Mexican-American families. Nat Genet. 3:358-364.
33. 33. Verge CF, Gianani R, Kawasaki E, et al. 1996 Prediction of type I diabetes in first-degree relatives using a combination of insulin, GAD, and ICA512bdc/ IA-2 autoantibodies. Diabetes. 45:926-933.
34. 34. Betterle C, Volpato M, Smith BR, et al. 1997 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.
35. 35. Peterson P, Salmi H, Hyoty H, et al. 1997 Steroid 21-hydroxylase autoantibodies in insulin-dependent diabetes mellitus. Childhood Diabetes in Finland (DiMe) Study Group. Clin Immunol Immunopathol. 82:37-42.
36. 36. Huang W, Connor E, Rosa TD, et al. 1996 Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in β-cell autoimmunity. J Clin Endocrinol Metab. 81: 2559-2563.
37. 37. Rowe RE, Leech NJ, Nepom GT, McCulloch DK. 1994 High genetic risk for IDDM in the Pacific Northwest: first report from the Washington State Diabetes Prediction Study. Diabetes. 43:87-94.
38. 38. Bach J-F. 1995 Insulin-dependent diabetes mellitus as a B-cell targeted disease of immunoregulation. J Autoimmun. 8:439-463.
39. 39. Raffel LJ, Vadheim CM, Klein R, et al. 1991 HLA-DR and the 5′ insulin gene polymorphism in insulin-dependent diabetes. Metabolism. 40:1244-1248.
40. 40. Penzotti JE, Doherty D, Lybrand TP, Nepom GT. 1996 A structural model for TCR recognition of the HLA class II shared epitope sequence implicated in susceptibility to rheumatoid arthritis. J Autoimmun. 9:287-293.
41. 41. Auger I, Toussirot E, Roudier J. 1997 Molecular mechanisms involved in the association of HLA-DR4 and rheumatoid arthritis. Immunol Res. 16:121-126.
42. 42. Carroll MC, Campbell RD, Porter RR. 1985 Mapping of steroid 21-hydroxylase gene adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci USA. 82:521-525.
43. 43. Mason AS, Meade TW, Lee JA, Norris JN. 1968 Epidemiological and clinical picture of Addison's disease. Lancet. 2:744-747.