Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: Distinct HLA-A, -B, -Cw, -DRB1, and -DQA1 allelic profiles distinguish European American patients with different myositis autoantibodies

Medicine

Volumn 85, Issue 2, 2006, Pages 111-127

  O'Hanlon, Terrance P ^a   Carrick, Danielle Mercatante ^a   Targoff, Ira N ^l   Arnett, Frank C ^e   Reveille, John D ^e   Carrington, Mary ^f   Gao, Xiaojiang ^f   Oddis, Chester V ^g   Morel, Penelope A ^g   Malley, James D ^b   Malley, Karen ^h   Shamim, Ejaz A ^a   Rider, Lisa G ^a   Chanock, Stephen J ^c   Foster, Charles B ⁱ   Bunch, Thomas ^j   Blackshear, Perry J ^a   Plotz, Paul H ^d   Love, Lori A ^k   Miller, Frederick W ^a  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^e UNIVERSITY OF TEXAS   (United States)

^f NATIONAL CANCER INSTITUTE   (United States)

^g UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^h Malley Research Programming Inc   (United States)

ⁱ JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j MAYO CLINIC   (United States)

^k CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

^l NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; HLA A ANTIGEN; HLA ANTIGEN; HLA ANTIGEN CLASS 1; HLA B ANTIGEN; HLA CW ANTIGEN; HLA DQA1 ANTIGEN; HLA DR ANTIGEN; JO 1 ANTIBODY; KU ANTIGEN; LA ANTIBODY; PL 12 ANTIBODY; RO ANTIBODY; SC 1 ANTIBODY; THREONINE TRANSFER RNA; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CLASSIFICATION; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EUROPEAN AMERICAN; GENE IDENTIFICATION; GENE LOCUS; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HLA SYSTEM; HUMAN; HYDROPHILICITY; HYDROPHOBICITY; IDIOPATHIC DISEASE; IMMUNOGENETICS; MAJOR CLINICAL STUDY; MYOSITIS; PATHOGENESIS; POPULATION; PRIORITY JOURNAL; PROTECTION; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ANALYSIS;

ALLELES; AMINO ACID MOTIFS; AUTOANTIBODIES; AUTOIMMUNE DISEASES; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HLA ANTIGENS; HLA-A ANTIGENS; HLA-B ANTIGENS; HLA-C ANTIGENS; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; IMMUNITY, NATURAL; MALE; MYOSITIS; PROTEIN BINDING; RISK FACTORS;

EID: 33645918608     PISSN: 00257974     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.md.0000217525.82287.eb     Document Type: Article

References (55)

1. Arnett FC, Targoff IN, Mimori T, Goldstein R, Warner NB, Reveille JD. Interrelationship of major histocompatibility complex class II alleles and autoantibodies in four ethnic groups with various forms of myositis. Arthritis Rheum. 1996;39:1507-1518.
2. Becker KG. The common variants/multiple disease hypothesis of common complex genetic disorders. Med Hypotheses. 2004;62:309-317.
3. Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med. 1975;292:344-347.
4. Brouwer R, Hengstman GJ, Vree Egberts W, Ehrfeld H, Bozic B, Ghirardello A, Grondal G, Hietarinta M, Isenberg D, Kalden JR, Lundberg I, Moutsopoulos H, Roux-Lombard P, Vencovsky J, Wikman A, Seelig HP, van Engelen BG, van Venrooij WJ. Autoantibody profiles in the sera of European patients with myositis. Ann Rheum Dis. 2001;60:116-123.
5. Bureau A, Dupuis J, Hayward B, Falls K, Van Eerdewegh P. Mapping complex traits using Random Forests. BMC Genet. 2003;4(Suppl 1):S64.
6. Candore G, Lio D, Colonna RG, Caruso C. Pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype: effect of multiple gene interactions. Autoimmun Rev. 2002;1:29-35.
7. Chinoy H, Ollier WE, Cooper RG. Have recent immunogenetic investigations increased our understanding of disease mechanisms in the idiopathic inflammatory myopathies? Curr Opin Rheumatol. 2004;16:707-713.
8. Cooper GS, Miller FW, Pandey JP. The role of genetic factors in autoimmune disease: implications for environmental research. Environ Health Perspect. 1999;107(Suppl 5):693-700.
9. Davidson A, Diamond B. Autoimmune diseases. N Engl J Med. 2001;345:340-350.
10. Falkner D, Wilson J, Fertig N, Clawson K, Medsger TA, Jr., Morel PA. Studies of HLA-DR and DQ alleles in systemic sclerosis patients with autoantibodies to RNA polymerases and U3-RNP (fibrillarin). J Rheumatol. 2000;27:1196-1202.
11. Franceschini F, Cavazzana I. Anti-Ro/SSA and La/SSB antibodies. Autoimmunity. 2005;38:55-63.
12. Friedman JH, Hastie T, Tibshirani R. The Elements of Statistical Learning: Data Mining, Inference, and Prediction. New York: Springer-Verlag; 2001.
13. Gebe JA, Swanson E, Kwok WW. HLA class II peptide-binding and autoimmunity. Tissue Antigens. 2002;59:78-87.
14. Ghirardello A, Zampieri S, Iaccarino L, Tarricone E, Tonello M, Bendo R, Rondinone R, Cozzi F, Doria A. Myositis specific and myositis associated autoantibodies in idiopathic inflammatory myopathies: a serologic study of 46 patients. Reumatismo. 2005;57:22-28.
15. Gibert M, Balandraud N, Touinssi M, Mercier P, Roudier J, Reviron D. Functional categorization of HLA-DRB1 alleles in rheumatoid arthritis: the protective effect. Hum Immunol. 2003;64:930-935.
16. Goh CS, Lan N, Douglas SM, Wu B, Echols N, Smith A, Milburn D, Montelione GT, Zhao H, Gerstein M. Mining the structural genomics pipeline: identification of protein properties that affect high-throughput experimental analysis. J Mol Biol. 2004;336:115-130.
17. Hassan AB, Nikitina-Zake L, Sanjeevi CB, Lundberg IE, Padyukov L. Association of the proinflammatory haplotype (MICA5.1/TNF2/TNFa2/DRB1*03) with polymyositis and dermatomyositis. Arthritis Rheum. 2004;50:1013-1015.
18. Hausmanowa-Petrusewicz I, Kowalska-Oledzka E, Miller FW, Jarzabek-Chorzelska M, Targoff FN, Blaszczyk-Kostanecka M, Jablonska S. Clinical, serologic, and immunogenetic features in Polish patients with idiopathic inflammatory myopathies. Arthritis Rheum. 1997;40:1257-1266.
19. Hengstman GJ, Brouwer R, Egberts WT, Seelig HP, Jongen PJ, van Venrooij WJ, van Engelen BG. Clinical and serological characteristics of 125 Dutch myositis patients. Myositis specific autoantibodies aid in the differential diagnosis of the idiopathic inflammatory myopathies. J Neurol. 2002;249:69-75.
20. Holm S. A simple sequentially rejective multiple test procedure. Scand J Statist. 1979;6:65-70.
21. Jiang H, Deng Y, Chen HS, Tao L, Sha Q, Chen J, Tsai CJ, Zhang S. Joint analysis of two microarray gene-expression data sets to select lung adenocarcinoma marker genes. BMC Bioinformatics. 2004;5:81.
22. Kao AH, Lacomis D, Lucas M, Fertig N, Oddis CV. Anti-signal recognition particle autoantibody in patients with and patients without idiopathic inflammatory myopathy. Arthritis Rheum. 2004;50:209-215.
23. Koffman BM, Sivakumar K, Simonis T, Stroncek D, Dalakas MC. HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies. J Neuroimmunol. 1998;84:139-142.
24. Kowalska-Oledzka E, Stern LZ. Myositis specific antibodies: frequency in different populations. Folia Neuropathol. 2000;38:101-103.
25. Lampe JB, Gossrau G, Kempe A, Fussel M, Schwurack K, Schroder R, Krause S, Kohnen R, Walter MC, Reichmann H, Lochmuller H. Analysis of HLA class I and II alleles in sporadic inclusion-body myositis. J Neurol. 2003;250:1313-1317.
26. Lemeshow S, Hosmer DW, Jr. A review of goodness of fit statistics for use in the development of logistic regression models. Am J Epidemiol. 1982;115:92-106.
27. Love LA, Leff RL, Fraser DD, Targoff IN, Dalakas M, Plotz PH, Miller FW. A new approach to the classification of idiopathic inflammatory myopathy: myositis-specific autoantibodies define useful homogeneous patient groups. Medicine (Baltimore). 1991;70:360-374.
28. Marrack P, Kappler J, Kotzin BL. Autoimmune disease: why and where it occurs. Nat Med. 2001;7:899-905.
29. Mierau R, Dick T, Genth E, Bartz-Bazzanella P, Keller E, Albert ED. An update on HLA association of Mi-2 autoantibodies: the association with a tryptophan at position 9 of the HLA-DRbeta chain is strong but not absolute. Arthritis Rheum. 1999;42:1552-1553.
30. Miller F. Inflammatory myopathies: polymyositis, dermatomyositis, and related conditions. In: Koopman W, Moreland L, eds. Arthritis and Allied Conditions, A Textbook of Rheumatology. Vol. 15. Philadelphia: Lippincott, Williams & Wilkins; 2004:1593-1620.
31. Morel PA, Chang HJ, Wilson JW, Conte C, Saidman SL, Bray JD, Tweardy DJ, Medsger TA, Jr. Severe systemic sclerosis with antitopoisomerase I antibodies is associated with an HLA-DRw 11 allele. Hum Immunol. 1994;40:101-110.
32. Nath SK, Kilpatrick J, Harley JB. Genetics of human systemic lupus erythematosus: the emerging picture. Curr Opin Immunol. 2004;16:794-800.
33. Newton JL, Harney SM, Wordsworth BP, Brown MA. A review of the MHC genetics of rheumatoid arthritis. Genes Immun. 2004;5:151-157.
34. O'Hanlon TP, Carrick DM, Arnett FC, Reveille JD, Carrington M, Gao X, Oddis CV, Morel PA, Malley JD, Malley K, Dreyfuss J, Shamim EA, Rider LG, Chanock SJ, Foster CB, Bunch T, Plotz PH, Love LA, Miller FW. Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: distinct HLA-A, -B, -Cw, -DRB1 and -DQA1 allelic profiles and motifs define clinicopathologic groups in Caucasians. Medicine (Baltimore). 2005;84:338-349.
35. Okada S, Weatherhead E, Targoff IN, Wesley R, Miller FW. Global surface ultraviolet radiation intensity may modulate the clinical and immunologic expression of autoimmune muscle disease. Arthritis Rheum. 2003;48:2285-2293.
36. Ou D, Mitchell LA, Tingle AJ. A new categorization of HLA DR alleles on a functional basis. Hum Immunol. 1998;59:665-676.
37. Price P, Witt C, Allcock R, Sayer D, Garlepp M, Kok CC, French M, Mallal S, Christiansen F. The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases. Immunol Rev. 1999;167:257-274.
38. Quintero-Del-Rio AI, Kelly JA, Kilpatrick J, James JA, Harley JB. The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22.3 (SLEN1), 2q34-35 (SLEN2), and 11p15.6 (SLEN3). Genes Immun. 2002;3 Suppl 1:S57-S62.
39. Reed AM, Ytterberg SR. Genetic and environmental risk factors for idiopathic inflammatory myopathies. Rheum Dis Clin North Am. 2002;28:891-916.
40. Rider LG, Shamim E, Okada S, Pandey JP, Targoff IN, O'Hanlon TP, Kim HA, Lim YS, Han H, Song YW, Miller FW. Genetic risk and protective factors for idiopathic inflammatory myopathy in Koreans and American whites: a tale of two loci. Arthritis Rheum. 1999;42:1285-1290.
41. Rosloniec EF, Whittington KB, He X, Stuart JM, Kang AH. Collagen-induced arthritis mediated by HLA-DR1 (*0101) and HLA-DR4 (*0401). Am J Med Sci. 2004;327:169-179.
42. Rutjes SA, Vree Egberts WT, Jongen P, Van Den Hoogen F, Pruijn GJ, Van Venrooij WJ. Anti-Ro52 antibodies frequently co-occur with anti-Jo-1 antibodies in sera from patients with idiopathic inflammatory myopathy. Clin Exp Immunol. 1997;109:32-40.
43. Shamim EA, Rider LG, Miller FW. Update on the genetics of the idiopathic inflammatory myopathies. Curr Opin Rheumatol. 2000;12:482-491.
44. Shamim EA, Rider LG, Pandey JP, O'Hanlon TP, Jara LJ, Samayoa EA, Burgos-Vargas R, Vazquez-Mellado J, Alcocer-Varela J, Salazar-Paramo M, Kutzbach AG, Malley JD, Targoff IN, Garcia-De la Torre I, Miller FW. Differences in idiopathic inflammatory myopathy phenotypes and genotypes between Mesoamerican Mestizos and North American Caucasians: ethnogeographic influences in the genetics and clinical expression of myositis. Arthritis Rheum. 2002;46:1885-1893.
45. Svetnik V, Liaw A, Tong C, Culberson JC, Sheridan RP, Feuston BP. Random forest: a classification and regression tool for compound classification and QSAR modeling. J Chem Inf Comput Sci. 2003;43:1947-1958.
46. Szanto S, Bardos T, Szabo Z, David CS, Buzas EI, Mikecz K, Glant TT. Induction of arthritis in HLA-DR4-humanized and HLA-DQ8-humanized mice by human cartilage proteoglycan aggrecan but only in the presence of an appropriate (non-MHC) genetic background. Arthritis Rheum. 2004;50:1984-1995.
47. Tan FK, Arnett FC. The genetics of lupus. Curr Opin Rheumatol. 1998;10:399-408.
48. Taneja V, David CS. HLA class II transgenic mice as models of human diseases. Immunol Rev. 1999;169:67-79.
49. Targoff IN. Autoantibodies to aminoacyl-transfer RNA synthetases for isoleucine and glycine. Two additional synthetases are antigenic in myositis. J Immunol. 1990;144:1737-1743.
50. Targoff IN, Trieu EP, Miller FW. Reaction of anti-OJ autoantibodies with components of the multi-enzyme complex of aminoacyl-tRNA synthetases in addition to isoleucyl-tRNA synthetase. J Clin Invest. 1993;91:2556-2564.
51. Thorsby E, Lie BA. HLA associated genetic predisposition to autoimmune diseases: Genes involved and possible mechanisms. Transpl Immunol. 2005;14:175-182.
52. Vandiedonck C, Beaurain G, Giraud M, Hue-Beauvais C, Eymard B, Tranchant C, Gajdos P, Dausset J, Garchon HJ. Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia. Proc Natl Acad Sci U S A. 2004;101:15464-15469.
53. Yaneva M, Arnett FC. Antibodies against Ku protein in sera from patients with autoimmune diseases. Clin Exp Immunol. 1989;76:366-372.
54. Zampieri S, Ghirardello A, Iaccarino L, Tarricone E, Gambari PF, Doria A. Anti-Jo-1 antibodies. Autoimmunity. 2005;38:73-78.
55. Zhang H, Yu CY, Singer B. Cell and tumor classification using gene expression data: construction of forests. Proc Natl Acad Sci U S A. 2003;100:4168-4172.