Twins discordant for myositis and systemic lupus erythematosus show markedly enriched autoantibodies in the affected twin supporting environmental influences in pathogenesis

BMC Musculoskeletal Disorders

Volumn 15, Issue 1, 2014, Pages

  Gan, Lu ^a   O'Hanlon, Terrance P ^a   Gordon, Aaron S ^b   Rider, Lisa G ^a   Miller, Frederick W ^a   Burbelo, Peter D ^b  

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

^b NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; AUTOANTIBODY; AUTOANTIGEN; CYTOKINE ANTIBODY;

ADOLESCENT; ANTIBODY PRODUCTION; ARTICLE; AUTOIMMUNITY; CLINICAL ASSESSMENT; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DERMATOMYOSITIS; DISEASE ACTIVITY SCORE; DIZYGOTIC TWINS; FEMALE; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; IMMUNOPATHOGENESIS; IMMUNOREACTIVITY; MAJOR CLINICAL STUDY; MALE; MONOZYGOTIC TWINS; MYOSITIS; POLYMYOSITIS; SEROLOGY; SYSTEMIC LUPUS ERYTHEMATOSUS; TWIN DISCORDANCE;

ADOLESCENT; AUTOANTIBODIES; AUTOANTIGENS; CASE-CONTROL STUDIES; CHILD; CROSS-SECTIONAL STUDIES; CYTOKINES; FEMALE; GENE-ENVIRONMENT INTERACTION; GTP-BINDING PROTEINS; HUMANS; IMMUNOPRECIPITATION; INTERFERON-GAMMA; IODIDE PEROXIDASE; IRON-BINDING PROTEINS; LUCIFERASES; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MYOSITIS; NUCLEAR PROTEINS; TRANSGLUTAMINASES; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC;

EID: 84898042796     PISSN: None     EISSN: 14712474     Source Type: Journal    
DOI: 10.1186/1471-2474-15-67     Document Type: Article

References (47)

1. Twin studies in autoimmune disease: genetics, gender and environment. Bogdanos DP, Smyk DS, Rigopoulou EI, Mytilinaiou MG, Heneghan MA, Selmi C, Gershwin ME, J Autoimmun 2012 38 2-3 156 169 10.1016/j.jaut.2011.11.003 22177232
2. Genetic predisposition to autoimmunity-what have we learned? Rai E, Wakeland EK, Semin Immunol 2011 23 2 67 83 10.1016/j.smim.2011.01.015 21288738
3. Infections and autoimmune diseases. Bach JF, J Autoimmun 2005 25 Suppl 74 80 16278064
4. Environmental triggers and epigenetic deregulation in autoimmune disease. Javierre BM, Hernando H, Ballestar E, Discov Med 2011 12 67 535 545 22204770
5. Environmental agents and autoimmune diseases. Miller FW, Adv Exp Med Biol 2011 711 61 81 10.1007/978-1-4419-8216-2-6 21627043
6. Infections and autoimmunity-good or bad? Christen U, von Herrath MG, J of Immunol 2005 174 12 7481 7486
7. Genetic associations in type I interferon related pathways with autoimmunity. Delgado-Vega AM, Alarcon-Riquelme ME, Kozyrev SV, Arthritis Res Ther 2010 12 1 2 10.1186/ar2900 20392289
8. Interleukin-6 and type I interferon-regulated genes and chemokines mark disease activity in dermatomyositis. Bilgic H, Ytterberg SR, Amin S, McNallan KT, Wilson JC, Koeuth T, Ellingson S, Newman B, Bauer JW, Peterson EJ, Baechler EC, Reed AM, Arthritis and Rheumatol 2009 60 11 3436 3446 10.1002/art.24936
9. Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis. Greenberg SA, Pinkus JL, Pinkus GS, Burleson T, Sanoudou D, Tawil R, Barohn RJ, Saperstein DS, Briemberg HR, Ericsson M, Park P, Amato AA, Annals of Neurol 2005 57 5 664 678 10.1002/ana.20464
10. Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis. Tezak Z, Hoffman EP, Lutz JL, Fedczyna TO, Stephan D, Bremer EG, Krasnoselska-Riz I, Kumar A, Pachman LM, J of Immunol 2002 168 8 4154 4163
11. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, Shark KB, Grande WJ, Hughes KM, Kapur V, Gregersen PK, Behrens TW, Proc Natl Acad Sci USA 2003 100 5 2610 2615 10.1073/pnas.0337679100 12604793
12. Presence of interferon and anti-interferon in patients with systemic lupus erythematosus. von Wussow P, Jakschies D, Hartung K, Deicher H, Rheumatol Int 1988 8 5 225 230 10.1007/BF00269199 3266358
13. Presence of cutaneous interferon-alpha producing cells in patients with systemic lupus erythematosus. Blomberg S, Eloranta ML, Cederblad B, Nordlin K, Alm GV, Ronnblom L, Lupus 2001 10 7 484 490 10.1191/096120301678416042 11480846
14. Activation of type I interferon system in systemic lupus erythematosus correlates with disease activity but not with antiretroviral antibodies. Bengtsson AA, Sturfelt G, Truedsson L, Blomberg J, Alm G, Vallin H, Ronnblom L, Lupus 2000 9 9 664 671 10.1191/096120300674499064 11199920
15. New predictors of disease. Molecules called predictive autoantibodies appear in the blood years before people show symptoms of various disorders. Tests that detected these molecules could warn of the need to take preventive action. Notkins AL, Sci Am 2007 296 3 72 79 10.1038/scientificamerican0307-72
16. Review of classification criteria for systemic lupus erythematosus. Petri M, Rheumatic Dis Clin of North Am 2005 31 2 245 254 vi 10.1016/j.rdc.2005.01. 009
17. Myositis-specific autoantibodies: their clinical and pathogenic significance in disease expression. Gunawardena H, Betteridge ZE, McHugh NJ, Rheumatology (Oxford) 2009 48 6 607 612 10.1093/rheumatology/kep078 19439503
18. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. Arbuckle MR, McClain MT, Rubertone MV, Scofield RH, Dennis GJ, James JA, Harley JB, N Engl J Med 2003 349 16 1526 1533 10.1056/NEJMoa021933 14561795
19. Serologic studies of monozygotic twins with systemic lupus erythematosus. Reichlin M, Harley JB, Lockshin MD, Arthritis and Rheumatol 1992 35 4 457 464 10.1002/art.1780350416
20. Autoantibodies and self-reported health complaints in relatives of systemic lupus erythematosus patients: a community based approach. Laustrup H, Heegaard NH, Voss A, Green A, Lillevang ST, Junker P, Lupus 2004 13 10 792 799 10.1191/0961203304lu2015oa 15540512
21. Studies of Filipino patients with systemic lupus erythematosus: autoantibody profile of first-degree relatives. Navarra SV, Ishimori MI, Uy EA, Hamijoyo L, Sama J, James JA, Holers VM, Weisman MH, Lupus 2011 20 5 537 543 10.1177/0961203310385164 21183559
22. Searching for biomarkers: humoral response profiling with luciferase immunoprecipitation systems. Burbelo PD, Ching KH, Bren KE, Iadarola MJ, Expert Rev Proteomics 2011 8 3 309 316 10.1586/epr.11.23 21679112
23. Adult-onset immunodeficiency in Thailand and Taiwan. Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, Kirk JL, Jutivorakool K, Zaman R, Ding L, Hsu AP, Patel SY, Olivier KN, Lulitanond V, Mootsikapun P, Anunnatsiri S, Angkasekwinai N, Sathapatayavongs B, Hsueh PR, Shieh CC, Brown MR, Thongnoppakhun W, Claypool R, Sampaio EP, Thepthai C, Waywa D, Dacombe C, Reizes Y, Zelazny AM, Saleeb P, et al. N Engl J Med 2012 367 8 725 734 10.1056/NEJMoa1111160 22913682
24. Sensitive and robust luminescent profiling of anti-La and other autoantibodies in Sjogren's syndrome. Burbelo PD, Leahy HP, Issa AT, Groot S, Baraniuk JN, Nikolov NP, Illei GG, Iadarola MJ, Autoimmunity 2009 42 6 515 524 10.1080/08916930902911738 19657778
25. Extrapancreatic autoantibody profiles in type I diabetes. Burbelo PD, Lebovitz EE, Bren KE, Bayat A, Paviol S, Wenzlau JM, Barriga KJ, Rewers M, Harlan DM, Iadarola MJ, PloS one 2012 7 9 45216 10.1371/journal.pone.0045216 23028856
26. High definition profiling of autoantibodies to glutamic acid decarboxylases GAD65/GAD67 in stiff-person syndrome. Burbelo PD, Groot S, Dalakas MC, Iadarola MJ, Biochem and Biophys Res Commun 2008 366 1 1 7 10.1016/j.bbrc.2007.11.077
27. Recombinant expression of the AChR-alpha1 subunit for the detection of conformation-dependent epitopes in Myasthenia Gravis. Ching KH, Burbelo PD, Kimball RM, Clawson LL, Corse AM, Iadarola MJ, Neuromuscul Dis: NMD 2011 21 3 204 213 10.1016/j.nmd.2010.12.003
28. Two major autoantibody clusters in systemic lupus erythematosus. Ching KH, Burbelo PD, Tipton C, Wei C, Petri M, Sanz I, Iadarola MJ, PloS one 2012 7 2 32001 10.1371/journal.pone.0032001 22363785
29. Plasma proteomic profiles from disease-discordant monozygotic twins suggest that molecular pathways are shared in multiple systemic autoimmune diseases. O'Hanlon TP, Li Z, Gan L, Gourley MF, Rider LG, Miller FW, Arthritis Res Ther 2011 13 6 181 10.1186/ar3506 22044644
30. Gene expression profiles from discordant monozygotic twins suggest that molecular pathways are shared among multiple systemic autoimmune diseases. O'Hanlon TP, Rider LG, Gan L, Fannin R, Paules RS, Umbach DM, Weinberg CR, Shah RR, Mav D, Gourley MF, Miller FW, Arthritis Res Ther 2011 13 2 69 10.1186/ar3330 21521520
31. Polymyositis and dermatomyositis (second of two parts). Bohan A, Peter JB, N Engl J Med 1975 292 8 403 407 10.1056/NEJM197502202920807 1089199
32. Polymyositis and dermatomyositis (first of two parts). Bohan A, Peter JB, N Engl J Med 1975 292 7 344 347 10.1056/NEJM197502132920706 1090839
33. Measures of adult and juvenile dermatomyositis, polymyositis, and inclusion body myositis: Physician and Patient/Parent Global Activity, Manual Muscle Testing (MMT), Health Assessment Questionnaire (HAQ)/Childhood Health Assessment Questionnaire (C-HAQ), Childhood Myositis Assessment Scale (CMAS), Myositis Disease Activity Assessment Tool (MDAAT), Disease Activity Score (DAS), Short Form 36 (SF-36), Child Health Questionnaire (CHQ), physician global damage, Myositis Damage Index (MDI), Quantitative Muscle Testing (QMT), Myositis Functional Index-2 (FI-2), Myositis Activities Profile (MAP), Inclusion Body Myositis Functional Rating Scale (IBMFRS), Cutaneous Dermatomyositis Disease Area and Severity Index (CDASI), Cutaneous Assessment Tool (CAT), Dermatomyositis Skin Severity Index (DSSI), Skindex, and Dermatology Life Quality Index (DLQI). Rider LG, Werth VP, Huber AM, Alexanderson H, Rao AP, Ruperto N, Herbelin L, Barohn R, Isenberg D, Miller FW, Arthritis care & Res 2011 63 Suppl 11 118 S157
34. A simplified immunoprecipitation method for quantitatively measuring antibody responses in clinical sera samples by using mammalian-produced Renilla luciferase-antigen fusion proteins. Burbelo PD, Goldman R, Mattson TL, BMC Biotechnol 2005 5 22 10.1186/1472-6750-5-22 16109166
35. Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia. Burbelo PD, Browne SK, Sampaio EP, Giaccone G, Zaman R, Kristosturyan E, Rajan A, Ding L, Ching KH, Berman A, Oliveira JB, Hsu AP, Klimavicz CM, Iadarola MJ, Holland SM, Blood 2010 116 23 4848 4858 10.1182/blood-2010-05-286161 20716769
36. Antibody profiling by Luciferase Immunoprecipitation Systems (LIPS). Burbelo PD, Ching KH, Klimavicz CM, Iadarola MJ, J Vis Exp 2009 32
37. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. Meager A, Visvalingam K, Peterson P, Moll K, Murumagi A, Krohn K, Eskelin P, Perheentupa J, Husebye E, Kadota Y, Willcox N, PLoS Med 2006 3 7 289 10.1371/journal.pmed.0030289 16784312
38. Association of endogenous anti-interferon-alpha autoantibodies with decreased interferon-pathway and disease activity in patients with systemic lupus erythematosus. Morimoto AM, Flesher DT, Yang J, Wolslegel K, Wang X, Brady A, Abbas AR, Quarmby V, Wakshull E, Richardson B, Townsend MJ, Behrens TW, Arthritis and rheumatism 2011 63 8 2407 2415 10.1002/art.30399 21506093
39. Geoepidemiology, gender and autoimmune disease. Moroni L, Bianchi I, Lleo A, Autoimmun Rev 2012 11 6-7 386 A392 22142547
40. Systemic lupus erythematosus one disease or many? Agmon-Levin N, Mosca M, Petri M, Shoenfeld Y, Autoimmun Rev 2012 11 8 593 595 10.1016/j.autrev.2011.10. 020 22041578
41. Myositis autoantibodies. Casciola-Rosen L, Mammen AL, Curr Opin Rheumatol 2012 24 6 602 608 10.1097/BOR.0b013e328358bd85 22955022
42. The 60- to 90-kDa parietal cell autoantigen associated with autoimmune gastritis is a beta subunit of the gastric H+/K(+)-ATPase (proton pump). Toh BH, Gleeson PA, Simpson RJ, Moritz RL, Callaghan JM, Goldkorn I, Jones CM, Martinelli TM, Mu FT, Humphris DC, Pettitt JM, Mori Y, Masuda T, Sobieszczuk P, Weinstock J, Mantamadiotis T, Baldwin GS, Proc Natl Acad Sci USA 1990 87 16 6418 6422 10.1073/pnas.87.16.6418 1974721
43. High prevalence of manifestations of gastric autoimmunity in parietal cell antibody-positive type 1 (insulin-dependent) diabetic patients. The Belgian Diabetes Registry. De Block CE, De Leeuw IH, Van Gaal LF, J Clin Endocrinol Metab 1999 84 11 4062 4067 10566650
44. Organ-specific autoantibodies and autoimmune diseases in juvenile systemic lupus erythematosus and juvenile dermatomyositis patients. Aikawa NE, Jesus AA, Liphaus BL, Silva CA, Carneiro-Sampaio M, Viana VS, Sallum AM, Clin Exp Rheumatol 2012 30 1 126 131 22261392
45. Sex differences in the gut microbiome drive hormone-dependent regulation of autoimmunity. Markle JG, Frank DN, Mortin-Toth S, Robertson CE, Feazel LM, Rolle-Kampczyk U, von Bergen M, McCoy KD, Macpherson AJ, Danska JS, Science 2013 339 6123 1084 1088 10.1126/science.1233521 23328391
46. The impact of genes on the occurrence of autoantibodies in rheumatoid arthritis. A study on disease discordant twin pairs. Svendsen AJ, Hjelmborg JV, Kyvik KO, Houen G, Nielsen C, Skytthe A, Junker P, J Autoimmun 2013 41 120 125 23290888
47. Monozygotic twin pairs discordant for Hashimoto's thyroiditis share a high proportion of thyroid peroxidase autoantibodies to the immunodominant region A. Further evidence for genetic transmission of epitopic fingerprints Brix TH, Hegedus L, Gardas A, Banga JP, Nielsen CH, Autoimmunity 2011 44 3 188 194 10.3109/08916934.2010.518575 20883148