The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases

Rheumatology (United Kingdom)

Volumn 54, Issue 3, 2015, Pages 528-535

  Flåm, Siri Tennebo ^a   Gunnarsson, Ragnar ^b   Garen, Torhild ^b   Lie, Benedicte Alexandra ^a,b   Molberg, Oyvind ^a,b   Lexberg, Åse Stavland ^c   Time, Kari ^d   Dhainaut, Alvilde Sofie Strand ^e   Bertelsen, Liv Turid ^f   Palm, Oyvind ^b   Irgens, Karen ^g   Becker Merok, Andrea ^h   Nordeide, Jan Leidulf ⁱ   Bitter, Helle ^j   Pedersen, Sonja ^k   Proven, Anne ^l   Jonsson, Petur ^m   Gran, Jan Tore ^b  

^a UNIVERSITY OF OSLO   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c University of Oslo ^*  (Norway)

^d Haugesund Rheumatism Hospital   (Norway)

^e TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^f HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^g lesund Hospital   (Norway)

^h UNIVERSITY OF TROMSØ   (Norway)

ⁱ Section for Rheumatology   (Norway)

^j Sørlandet Hospital   (Norway)

^k NORDLAND HOSPITAL   (Norway)

^l MARTINA HANSENS HOSPITAL   (Norway)

^m Section for Foot and Ankle Surgery   (Norway)

more..

Author keywords

Connective tissue diseases; Genetics; HLA; Humans; Mixed connective tissue disease; Myositis; SLE; Systemic sclerosis; U1 small nuclear ribonucleoprotein

Indexed keywords

HLA B ANTIGEN; HLA DRB1 ANTIGEN; HLA ANTIGEN; HLA-DRB1*03:01 ANTIGEN; HLA-DRB1*04:01 ANTIGEN; HLA-DRB1*13:01 ANTIGEN; TRANSCRIPTOME;

ADULT; ALLELE; ANCESTRY GROUP; ARTHRITIS; ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ALGORITHM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HLA SYSTEM; HLA TYPING; HUMAN; LUNG FIBROSIS; MAJOR CLINICAL STUDY; MALE; MIXED CONNECTIVE TISSUE DISEASE; NORWEGIAN (PEOPLE); PHENOTYPE; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC SCLEROSIS; ADOLESCENT; AGED; CASE CONTROL STUDY; CHILD; DERMATOMYOSITIS; ETHNOLOGY; GENETICS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MIDDLE AGED; POLYMYOSITIS; PRESCHOOL CHILD; RISK FACTOR; SCLERODERMA, SYSTEMIC; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DERMATOMYOSITIS; FEMALE; HLA ANTIGENS; HLA-B ANTIGENS; HLA-DRB1 CHAINS; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; MIXED CONNECTIVE TISSUE DISEASE; POLYMYOSITIS; RISK FACTORS; SCLERODERMA, SYSTEMIC; TRANSCRIPTOME; YOUNG ADULT;

EID: 84940020912     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/keu310     Document Type: Article

References (42)

1. Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR. Mixed connective tissue disease-an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med 1972;52:148-59.
2. Sullivan WD, Hurst DJ, Harmon CE et al. A prospective evaluation emphasizing pulmonary involvement in patients with mixed connective tissue disease. Medicine 1984;63: 92-107.
3. Bennett RM, O'Connell DJ. Mixed connective tissue disease: a clinicopathologic study of 20 cases. Semin Arthritis Rheum 1980;10:25-51.
4. Burdt MA, Hoffman RW, Deutscher SL et al. Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum 1999;42: 899-909.
5. Gunnarsson R, Molberg O, Gilboe IM, Gran JT, Group PS. The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Ann Rheum Dis 2011;70:1047-51.
6. Gunnarsson R, Aalokken TM, Molberg O et al. Prevalence and severity of interstitial lung disease in mixed connective tissue disease: a nationwide, cross-sectional study. Ann Rheum Dis 2012;71:1966-72.
7. Gunnarsson R, Andreassen AK, Molberg O et al. Prevalence of pulmonary hypertension in an unselected, mixed connective tissue disease cohort: results of a nationwide, Norwegian cross-sectional multicentre study and review of current literature. Rheumatology 2013;52:1208-13.
8. Sharp GC. Diagnostic criteria for classification of MCTD. In: Kasukawa R, Sharp GC, eds. Mixed Connective Tissue Disease and Anti-Nuclear Antibodies. Amsterdam. The Netherlands: Elsevier Science, 1987:23-30.
9. Alarcón-Segovia D, Villarreal M. Classification and diagnostic criteria for mixed connective tissue disease. In: Kasukawa R, Sharp GC, eds. Mixed Connective Tissue Disease and Anti-Nuclear Antibodies. Amsterdam: The Netherlands: Elsevier Science, 1987:33-40.
10. Kahn MF, Appelboom T. Syndrome de Sharp. In: Kahn MF, Peltier AP, Mayer O, Piette JC, eds. Les maladies systémiques. Paris: France: Flammarion, 1991:545-56.
11. Kasukawa R, Tojo T, Miyawaki S et al. Preliminary diagnostic criteria for classification of mixed connective tissue disease. In: Kasukawa R, Sharp GC, eds. Mixed Connective Tissue Disease and Anti-Nuclear Antibodies. Amsterdam. The Netherlands: Elsevier Science, 1987:41-7.
12. Gendi NST, Welsh KI, Van Venrooij WJ et al. HLA type as a predictor of mixed connective tissue disease differentiation. Ten-year clinical and immunogenetic followup of 46 patients. Arthritis Rheum 1995;38:259-66.
13. Genth E, Zarnowski H, Mierau R, Wohltmann D, Hartl PW. HLA-DR4 and Gm(1,3;5,21) are associated with U1-nRNP antibody positive connective tissue disease. Ann Rheum Dis 1987;46:189-96.
14. Hassan AB, Nikitina-Zake L, Padyukov L et al. MICA4/HLA-DRB1*04/TNF1 haplotype is associated with mixed connective tissue disease in Swedish patients. Hum Immunol 2003;64:290-6.
15. Kuwana M, Okano Y, Kaburaki J, Inoko H. Clinical correlations with HLA type in Japanese patients with connective tissue disease and anti-U1 small nuclear RNP antibodies. Arthritis Rheum 1996;39:938-42.
16. Ruuska P, Hameenkorpi R, Forsberg S et al. Differences in HLA antigens between patients with mixed connective tissue disease and systemic lupus erythematosus. Ann Rheum Dis 1992;51:52-5.
17. Yoshida K, Inoue H, Komai K et al. Mixed connective tissue disease is distinct from systemic lupus erythematosus: study of major histocompatibility complex class I polypeptide-related sequence A and HLA gene polymorphisms. Tissue Antigens 2013;81:44-5.
18. Dong RP, Kimura A, Hashimoto H et al. Difference in HLAlinked genetic background between mixed connective tissue disease and systemic lupus erythematosus. Tissue Antigens 1993;41:20-5.
19. Black CM, Maddison PJ, Welsh KI et al. HLA and immunoglobulin allotypes in mixed connective tissue disease. Arthritis Rheum 1988;31:131-4.
20. Hoffman RW, Sharp GC, Deutscher SL. Analysis of anti-u1 RNA antibodies in patients with connective tissue disease. Arthritis Rheum 1995;38:1837-44.
21. Kaneoka H, Hsu K-C, Takeda Y, Sharp GC, Hoffman RW. Molecular genetic analysis of HLA-DR and HLA-DQ genes among anti-U1-70-kd autoantibody positive connective tissue disease patients. Arthritis Rheum 1992;35:83-94.
22. Hameenkorpi R, Ruuska P, Forsberg S et al. More evidence of distinctive features of mixed connective tissue disease. Scand J Rheumatol 1993;22:63-8.
23. Barcellos LF, May SL, Ramsay PP et al. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. PLoS Genetics 2009;5:e1000696.
24. Rioux JD, Goyette P, Vyse TJ et al. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proc Natl Acad Sci USA 2009;106:18680-5.
25. Agarwal SK, Tan FK, Arnett FC. Genetics and genomic studies in scleroderma (systemic sclerosis). Rheum Dis Clin North Am 2008;34:17-40.
26. Arnett FC, Gourh P, Shete S et al. Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. Ann Rheum Dis 2010;69:822-7.
27. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997;40: 1725.
28. Tan EM, Cohen AS, Fries JF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982;25:1271-7.
29. Masi AT. Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Preliminary criteria for the classification of systemic sclerosis (scleroderma). Arthritis Rheum 1980;23:581-90.
30. Bohan A, Peter JB. Polymyositis and dermatomyositis. N Engl J Med 1975;292:403-7.
31. Galie N, Hoeper MM, Humbert M et al. Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J 2009;30: 2493-537.
32. Sayer DC, Whidborne R, De Santis D et al. A multicenter international evaluation of single-tube amplification protocols for sequencing-based typing of HLADRB1 and HLA-DRB3,4,5. Tissue Antigens 2004;63: 412-23.
33. Smerdel-Ramoya A, Finholt C, Lilleby V et al. Systemic lupus erythematosus and the extended major histocompatibility complex-evidence for several predisposing loci. Rheumatology 2005;44:1368-73.
34. Dudbridge F. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 2008;66:87-98.
35. Svejgaard A, Jersild C, Nielsen LS, Bodmer WF. HL-A antigens and disease. Statistical and genetical considerations. Tissue Antigens 1974;4:95-105.
36. Alpert MA, Goldberg SH, Singsen BH et al. Cardiovascular manifestations of mixed connective tissue disease in adults. Circulation 1983;68:1182-93.
37. Wigley FM, Lima JA, Mayes M et al. The prevalence of undiagnosed pulmonary arterial hypertension in subjects with connective tissue disease at the secondary health care level of community-based rheumatologists (the UNCOVER study). Arthritis Rheum 2005;52: 2125-32.
38. Lynch CJ, Singh G, Whiteside TL et al. Histocompatibility antigens in progressive systemic sclerosis (PSS; scleroderma). J Clin Immunol 1982;2:314-8.
39. Briggs DC, Vaughan RW, Welsh KI et al. Immunogenetic prediction of pulmonary fibrosis in systemic sclerosis. Lancet 1991;338:661-2.
40. Chinoy H, Lamb J, Ollier WER, Cooper R. An update on the immunogenetics of idiopathic inflammatory myopathies: major histocompatibility complex and beyond. Curr Opin Rheumatol 2009;21:588-93.
41. Collins RW. Human MHC class I chain related (MIC) genes: their biological function and relevance to disease and transplantation. Eur J Immunogenet 2004;31:105-14.
42. Price P, Witt C, Allcock R et al. The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases. Immunol Rev 1999;167:257-74.