Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Immunologic Research
Published in: Immunologic Research 2-3/2013

01-07-2013 | ETIO PATHOGENESIS OF AUTOIMMUNITY

Genetics and autoantibodies

Authors: Carlo Perricone, Nancy Agmon-Levin, Fulvia Ceccarelli, Guido Valesini, Juan-Manuel Anaya, Yehuda Shoenfeld

Published in: Immunologic Research | Issue 2-3/2013

Login to get access

Abstract

Autoimmune diseases (ADs) are chronic conditions initiated by the loss of immunological tolerance to self-antigens. The pathogenic hypothesis comprises a complex interaction between genetic, environmental and hormonal factors that interact with an individual over time generating a dysregulation of the immune system leading to disease development. Several polymorphic genes contribute to the development of ADs. Furthermore, age and gender play a major role by influencing hormone levels that can represent the fulcrum unbalancing from susceptibility to protection. Evidences suggest that while all these steps occur, the susceptible individual develops autoantibodies over a long time lapse. Such autoantibody production is genetically determined and finally, their presence seems to determine the clinical presentation of ADs. The genetic predisposition to the developments of autoantibodies and toward the disease process may overlap. The unveiling of these mechanisms could allow not only to treat but also to prevent the development of autoimmune diseases.
Literature
1.
Shoenfeld Y, Gilburd B, Abu-Shakra M, Amital H, Barzilai O, Berkun Y, Blank M, Zandman-Goddard G, Katz U, Krause I, Langevitz P, Levy Y, Orbach H, Pordeus V, Ram M, Sherer Y, Toubi E, Tomer Y. The mosaic of autoimmunity: genetic factors involved in autoimmune diseases–2008. Isr Med Assoc J. 2008;10:3–7.PubMed
2.
3.
Gregersen PK. HLA class II polymorphism: implications for genetic susceptibility to autoimmune disease. Lab Invest. 1989;61:5–19.PubMed
4.
5.
Shoenfeld Y, Isenberg DA. The mosaic of autoimmunity. Immunol Today. 1989;10:23–6.CrossRef
6.
7.
Anaya JM, Corena R, Castiblanco J, Rojas-Villarraga A, Shoenfeld Y. The kaleidoscope of autoimmunity: multiple autoimmune syndromes and familial autoimmunity. Expert Rev Clin Immunol. 2007;3:623–35.PubMedCrossRef
8.
Shoenfeld Y, Blank M, Abu-Shakra M, Amital H, Barzilai O, Berkun Y, Bizzaro N, Gilburd B, Zandman-Goddard G, Katz U, Krause I, Langevitz P, Mackay IR, Orbach H, Ram M, Sherer Y, Toubi E, Gershwin ME. The mosaic of autoimmunity: prediction, autoantibodies, and therapy in autoimmune diseases–2008. Isr Med Assoc J. 2008;10:13–9.PubMed
9.
Shoenfeld Y, Zandman-Goddard G, Stojanovich L, Cutolo M, Amital H, Levy Y, Abu-Shakra M, Barzilai O, Berkun Y, Blank M, de Carvalho JF, Doria A, Gilburd B, Katz U, Krause I, Langevitz P, Orbach H, Pordeus V, Ram M, Toubi E, Sherer Y. The mosaic of autoimmunity: hormonal and environmental factors involved in autoimmune diseases–2008. Isr Med Assoc J. 2008;10:8–12.PubMed
10.
Allcock RJ. The major histocompatibility complex: a paradigm for studies of the human genome. Methods Mol Biol. 2012;882:1–7.PubMedCrossRef
11.
Hofstetter AR, Sullivan LC, Lukacher AE, Brooks AG. Diverse roles of non-diverse molecules: HLA class Ib molecules in host defense and control of autoimmunity. Curr Opin Immunol. 2011;23:104–10.PubMedCrossRef
12.
Wucherpfennig KW, Sethi D. T cell receptor recognition of self and foreign antigens in the induction of autoimmunity. Semin Immunol. 2011;23:84–91.PubMedCrossRef
13.
Uchanska-Ziegler B, Loll B, Fabian H, Hee CS, Saenger W, Ziegler A. HLA class I-associated diseases with a suspected autoimmune etiology: HLA-B27 subtypes as a model system. Eur J Cell Biol. 2012;91:274–86.PubMedCrossRef
14.
Moulton VR, Tsokos GC. Abnormalities of T cell signaling in systemic lupus erythematosus. Arthritis Res Ther. 2011;13:207.PubMedCrossRef
15.
Anaya JM, Rojas-Villarraga A, García-Carrasco M. The autoimmune tautology: from polyautoimmunity and familial autoimmunity to the autoimmune genes. Autoimmune Dis. 2012;2012:297193.PubMed
16.
Peng H, Zhou M, Xu WD, Xu K, Zhai Y, Li R, Wang W, Zhang YJ, Liu SS, Pan HF, Ye DQ. Association of PTPN22 C1858T Polymorphism and Type 1 Diabetes: a meta-analysis. Immunol Invest. 2012;41:484–96.PubMedCrossRef
17.
Perricone C, Ceccarelli F, Valesini G. An overview on the genetic of rheumatoid arthritis: a never-ending story. Autoimmun Rev. 2011;10:599–608.PubMedCrossRef
18.
Pradhan V, Borse V, Ghosh K. PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility. J Postgrad Med. 2010;56:239–42.PubMedCrossRef
19.
Anaya JM, Kim-Howard X, Prahalad S, Cherñavsky A, Cañas C, Rojas-Villarraga A, Bohnsack J, Jonsson R, Bolstad AI, Brun JG, Cobb B, Moser KL, James JA, Harley JB, Nath SK. Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases. Autoimmun Rev. 2012;11:276–80.PubMedCrossRef
20.
Kim-Howard X, Maiti AK, Anaya JM, Bruner GR, Brown E, Merrill JT, Edberg JC, Petri MA, Reveille JD, Ramsey-Goldman R, Alarcon GS, Vyse TJ, Gilkeson G, Kimberly RP, James JA, Guthridge JM, Harley JB, Nath SK. ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry. Ann Rheum Dis. 2010;69:1329–32.PubMedCrossRef
21.
Naser SA, Arce M, Khaja A, Fernandez M, Naser N, Elwasila S, Thanigachalam S. Role of ATG16L, NOD2 and IL23R in Crohn’s disease pathogenesis. World J Gastroenterol. 2012;18:412–24.PubMedCrossRef
22.
Perricone C, Borgiani P, Romano S, Ciccacci C, Fusco G, Novelli G, Biancone L, Calabrese E, Pallone F. ATG16L1 Ala197Thr is not associated with susceptibility to Crohn’s disease or with phenotype in an Italian population. Gastroenterology. 2008;134:368–70.PubMedCrossRef
23.
Ellinghaus D, Ellinghaus E, Nair RP, Stuart PE, Esko T, Metspalu A, Debrus S, Raelson JV, Tejasvi T, Belouchi M, West SL, Barker JN, Kõks S, Kingo K, Balschun T, Palmieri O, Annese V, Gieger C, Wichmann HE, Kabesch M, Trembath RC, Mathew CG, Abecasis GR, Weidinger S, Nikolaus S, Schreiber S, Elder JT, Weichenthal M, Nothnagel M, Franke A. Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. Am J Hum Genet. 2012;90:636–47.PubMedCrossRef
24.
Naser SA, Arce M, Khaja A, Fernandez M, Naser N, Elwasila S, Thanigachalam S. Role of ATG16L, NOD2 and IL23R in Crohn’s disease pathogenesis. World J Gastroenterol. 2012;18:412–24.PubMedCrossRef
25.
Borgiani P, Perricone C, Ciccacci C, Romano S, Novelli G, Biancone L, Petruzziello C, Pallone F. Interleukin-23R Arg381Gln is associated with susceptibility to Crohn’s disease but not with phenotype in an Italian population. Gastroenterology. 2007;133:1049–51.PubMedCrossRef
26.
Campbell et al. Autoimmune regulator controls T cell help for pathogenetic autoantibody production in collagen-induced arthritis. Arthritis Rheum. 2009;60:1683–93.CrossRef
27.
Buckley RH. The Merck manual for health care professional, overview of immunodeficiency disorders, 2008.
28.
Jorgensen GH, Ornolfsson AE, Johannesson A, Gudmundsson S, Janzi M, Wang N, Hammarström L, Ludviksson BR. Association of immunoglobulin a deficiency and elevated thyrotropin-receptor autoantibodies in two Nordic countries. Hum Immunol. 2011;72:166–72.PubMedCrossRef
29.
Ferreira RC, Pan-Hammarström Q, Graham RR, Gateva V, Fontán G, Lee AT, Ortmann W, Urcelay E, Fernández-Arquero M, Núñez C, Jorgensen G, Ludviksson BR, Koskinen S, Haimila K, Clark HF, Klareskog L, Gregersen PK, Behrens TW, Hammarström L. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. Nat Genet. 2010;42:777–80.PubMedCrossRef
30.
Gulez N, Karaca NE, Aksu G, Kutukculer N. Increased percentages of autoantibodies in immunoglobulin A-deficient children do not correlate with clinical manifestations. Autoimmunity. 2009;42:74–9.PubMedCrossRef
31.
Karaca NE, Gulez N, Aksu G, Azarsiz E, Kutukculer N. Does OM-85 BV prophylaxis trigger autoimmunity in IgA deficient children? Immunopharmacol. 2011;11:1747–51.CrossRef
32.
Aghamohammadi A, Cheraghi T, Gharagozlou M, Movahedi M, Rezaei N, Yeganeh M, Parvaneh N, Abolhassani H, Pourpak Z, Moin M. IgA deficiency: correlation between clinical and immunological phenotypes. J Clin Immunol. 2009;29:130–6.PubMedCrossRef
33.
Jacob CM, Pastorino AC, Fahl K, Carneiro-Sampaio M, Monteiro RC. Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J Clin Immunol. 2008;28((Suppl.1)):S56–61.PubMedCrossRef
34.
Jorgensen GH, Thorsteinsdottir I, Gudmundsson S, Hammarstrom L, Ludviksson BR. Familial aggregation of IgAD and autoimmunity. Clin Immunol. 2009;131:233–9.PubMedCrossRef
35.
Liao WW, Arthur JW. Predicting peptide binding to Major Histocompatibility Complex molecules. Autoimmun Rev. 2011;10:469–73.PubMedCrossRef
36.
37.
Bach MA, Phan-Dinh-Tuy F, Tournier E, Chatenoud L, Bach JF, Martin C, Degos JD. Deficit of suppressor T cells in active multiple sclerosis. The Lancet. 1980;2:1221–3.CrossRef
38.
Thompson AJ, Brazil J, Whelan CA, Martin EA, Hutchinson M, Feighery C. Peripheral blood T lymphocyte changes in multiple sclerosis: a marker of disease progression rather than of relapse? J Neurol Neurosurg Psychiat. 1986;49:905–12.PubMedCrossRef
39.
Veys EM, Hermanns P, Goldstein G, Kung P, Schindler J, Van Wauwe J. Determination of T lymphocyte subpopulations by monoclonal antibodies in rheumatoid arthritis. Influence of immunomodulating agents. Internat J Immunopharmacol. 1981;3:313–9.CrossRef
40.
Fox RI, Fong S, Sabharwal N, Carstens SA, Kung PC, Vaughan JH. Synovial fluid lymphocytes differ from peripheral blood lymphocytes in patients with rheumatoid arthritis. J Immunol. 1982;128:351–4.PubMed
41.
Morimoto C, Reinherz EL, Schlossman SF, Schur PH, Mills JA, Steinberg AD. Alterations in immunoregulatory T cell subsets in active systemic lupus erythematosus. J Clin Investig. 1980;66:1171–4.PubMedCrossRef
42.
Morimoto C, Reinherz EL, Nadler LM, Distaso JA, Steinberg AD, Schlossman SF. Comparison in Tand B-cell markers in patients with Sj¨ogren’s syndrome and systemic lupus erythematosus. Clin Immunol Immunopathol. 1982;22:270–8.PubMedCrossRef
43.
Fox I, Carstens SA, Fong S, Robinson CA, Howell F, Vaughan JH. Use of monoclonal antibodies to analyze peripheral blood and salivary gland lymphocyte subsets in Sjogren’s syndrome. Arthritis Rheum. 1982;25:419–26.PubMedCrossRef
44.
Whiteside TL, Kumagai Y, Roumm AD, Almendinger R, Rodnan GP. Suppressor cell function and T lymphocyte subpopulations in peripheral blood of patients with progressive systemic sclerosis. Arthritis Rheum. 1983;26:841–7.PubMedCrossRef
45.
Gustafsson R, Totterman TH, Klareskog L, Hallgren R. Increase in activated T cells and reduction in suppressor inducer T cells in systemic sclerosis. Ann Rheum Dis. 1990;49:40–5.PubMedCrossRef
46.
O’Gorman MRG, Corrochano V, Roleck J, Donovan M, Pachman LM. Flow cytometric analyses of the lymphocyte subsets in peripheral blood of children with untreated active juvenile dermatomyositis. Clin Diagn Lab Immunol. 1995;2:205–8.PubMed
47.
Aleksza M, Szegedi A, Antal-Szalmás P, Irinyi B, Gergely L, Ponyi A, Hunyadi J, Sipka S, Zeher M, Szegedi G, Dankó K. Altered cytokine expression of peripheral blood lymphocytes in polymyositis and dermatomyositis. Ann Rheum Dis. 2005;64:1485–9.PubMedCrossRef
48.
Moreno-Otero R, Civeira MP, Suou T, Kanof ME, James SP, Jones EA. Reduced numbers of CD8 + T cells and B cell expression of Leu-8 antigen in peripheral blood of patients with primary biliary cirrhosis. Hepatogastroenterology. 1994;41:239–43.PubMed
49.
Buschard K, Ropke C, Madsbad S, Mehlsen J, Sørensen TB, Rygaard J. Alterations of peripheral T-lymphocyte subpopulations in patients with insulin-dependent (type 1) diabetes mellitus. J Clin Lab Immunol. 1983;10:127–31.PubMed
50.
Galluzzo A, Giordano C, Rubino G, Bompiani GD. Immunoregulatory T-lymphocyte subset deficiency in newly diagnosed type 1 (insulin-dependent) diabetes mellitus. Diabetologia. 1984;26:426–30.PubMedCrossRef
51.
Reinherz EL, Weiner HL, Hauser SL, Cohen JA, Distaso JA, Schlossman SF. Loss of suppressor T cells in active multiple sclerosis. Analysis with monoclonal antibodies. New Engl J Med. 1980;303:125–9.PubMedCrossRef
52.
Veys EM, Hermanns P, Goldstein G, Kung P, Schindler J, VanWauwe J. Determination of T lymphocyte subpopulations by monoclonal antibodies in rheumatoid arthritis. Influence of immunomodulating agents. Int J Immunopharmacol. 1981;3:313–9.PubMedCrossRef
53.
Thielemans C, Vanhaelst L, De Waele M, Jonckheer M, Van Camp B. Autoimmune thyroiditis: a condition related to a decrease in T-suppressor cells. Clin Endocrinol. 1981;15:259–63.CrossRef
54.
Berrih S, Gaud C, Bach MA, Le Brigand H, Binet JP, Bach JF. Evaluation of T cell subsets in myasthenia gravis using anti-T cell monoclonal antibodies. Clin Exp Immunol. 1985;45:1–8.
55.
Fox RI, Fong S, Sabharwal N, Carstens SA, Kung PC, Vaughan JH. Synovial fluid lymphocytes differ from peripheral blood lymphocytes in patients with rheumatoid arthritis. J Immunol. 1982;128:351–4.PubMed
56.
Ferreira MA, Mangino M, Brumme CJ, Zhao ZZ, Medland SE, Wright MJ, Nyholt DR, Gordon S, Campbell M, McEvoy BP, Henders A, Evans DM, Lanchbury JS, Pereyra F, International HIV Controllers Study, Walker BD, Haas DW, Soranzo N, Spector TD, de Bakker PI, Frazer IH, Montgomery GW, Martin NG. Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. Am J Hum Genet. 2010;86:88–92.PubMedCrossRef
57.
Amadori A, Zamarchi R, De Silvestro G, Forza G, Cavatton G, Danieli GA, Clementi M, Chieco-Bianchi L. Genetic control of the CD4/CD8 T-cell ratio in humans. Nat Med. 1995;1:1279–83.PubMedCrossRef
58.
Menard D, Mandeng MJ, Tothy MB, Kelembho EK, Gresenguet G, Talarmin A. Immunohematological reference ranges for adults from the Central African Republic. Clin Diagn Lab Immunol. 2003;10:443–5.PubMed
59.
Uppal SS, Verma S, Dhot PS. Normal values of CD4 and CD8 lymphocyte subsets in healthy Indian adults and the effects of sex, age, ethnicity, and smoking. Cytometry Part B. 2003;52:32–6.
60.
Jentsch-Ullrich K, Koenigsmann M, Mohren M, Franke A. Lymphocyte subsets’ reference ranges in an age and gender-balanced population of 100 healthy adults—a monocentric German study. Clin Immunol. 2005;116:192–7.PubMedCrossRef
61.
Jiang W, Kang L, Lu HZ, Pan X, Lin Q, Pan Q. Normal values for CD4 and CD8 lymphocyte subsets in healthy Chinese adults from Shanghai. Clin Diagn Lab Immunol. 2004;11:811–3.PubMed
62.
Ho PC, Tang GWK, Lawton JWM. Lymphocyte subsets in patients with oestrogen deficiency. J Reprod Immunol. 1991;20:85–91.PubMedCrossRef
63.
Wingate PJ, McAulay KA, Anthony IC, Crawford DH. Regulatory T cell activity in primary and persistent Epstein-Barr virus infection. J Med Virol. 2009;81:870–7.PubMedCrossRef
64.
Pender MP. CD8+ T-Cell Deficiency, Epstein-Barr Virus Infection, Vitamin D deficiency, and steps to autoimmunity: a unifying hypothesis. Autoimmune Dis. 2012; 189096.
65.
Amital H, Szekanecz Z, Szücs G, Dankó K, Nagy E, Csépány T, Kiss E, Rovensky J, Tuchynova A, Kozakova D, Doria A, Corocher N, Agmon-Levin N, Barak V, Orbach H, Zandman-Goddard G, Shoenfeld Y. Serum concentrations of 25-OH vitamin D in patients with systemic lupus erythematosus (SLE) are inversely related to disease activity: is it time to routinely supplement patients with SLE with vitamin D? Ann Rheum Dis. 2010;69:1155–7.PubMedCrossRef
66.
van Venrooij WJ, Zendman AJ, Pruijn GJ. Autoantibodies to citrullinated antigens in (early) rheumatoid arthritis. Autoimmun Rev. 2006;6:37–41.PubMedCrossRef
67.
Arbuckle MR, McClain MT, Rubertone MV, Scofield RH, Dennis JD, James JA. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. N Engl J Med. 2003;349:1526–33.PubMedCrossRef
68.
Agmon-Levin N, Shapira Y, Selmi C, Barzilai O, Ram M, Szyper-Kravitz M, Sella S, Katz BS, Youinou P, Renaudineau Y, Larida B, Invernizzi P, Gershwin ME, Shoenfeld Y. A comprehensive evaluation of serum autoantibodies in primary biliary cirrhosis. J Autoimmun. 2010;34:55–8.PubMedCrossRef
69.
Israeli E, Grotto I, Gilburd B, Balicer RD, Goldin E, Wiik A, Shoenfeld Y. Anti-Saccharomyces cerevisiae and antineutrophil cytoplasmic antibodies as predictors of inflammatory bowel disease. Gut. 2005;54:1232–6.PubMedCrossRef
70.
Radice A, Bianchi L, Sinico RA. Anti-neutrophil cytoplasmic autoantibodies: methodological aspects and clinical significance in systemic vasculitis. Autoimmun Rev. 2013;12:487–95.PubMedCrossRef
71.
McAdoo SP, Hall A, Levy J, Salama AD, Pusey CD. Proteinase-3 antineutrophil cytoplasm antibody positivity in patients without primary systemic vasculitis. J Clin Rheumatol. 2012;18:336–40.PubMedCrossRef
72.
Mehra S, Walker J, Patterson K, Fritzler MJ. Autoantibodies in systemic sclerosis. Autoimmun Rev. 2013;12:340–54.PubMedCrossRef
73.
Artenjak A, Lakota K, Frank M, Čučnik S, Rozman B, Božič B, Shoenfeld Y, Sodin-Semrl S. Antiphospholipid antibodies as non-traditional risk factors in atherosclerosis based cardiovascular diseases without overt autoimmunity. A critical updated review. Autoimmun Rev. 2012;11:873–82.PubMedCrossRef
74.
Tobón GJ, Pers JO, Cañas CA, Rojas-Villarraga A, Youinou P, Anaya JM. Are autoimmune diseases predictable? Autoimmun Rev. 2012;11:259–66.PubMedCrossRef
75.
Kivity S, Agmon-Levin N, Blank M, Shoenfeld Y. Infections and autoimmunity–friends or foes? Trends Immunol. 2009;30:409–14.PubMedCrossRef
76.
77.
Harley JB, Harley IT, Guthridge JM, James JA. The curiously suspicious: a role for Epstein-Barr virus in lupus. Lupus. 2006;15:768–77.PubMedCrossRef
78.
Lunardi C, Tinazzi E, Bason C, Dolcino M, Corrocher R, Puccetti A. Human parvovirus B19 infection and autoimmunity. Autoimmun Rev. 2008;8:116–20.PubMedCrossRef
79.
Ghabaee M, Ghanbarian D, Brujeni GN, Bokaei S, Siavoshi F, Gharibzadeh S. Could Helicobacter pylori play an important role in axonal type of Guillain-Barré syndrome pathogenesis? Clin Neurol Neurosurg. 2010;112:193–8.PubMedCrossRef
80.
Zhao X, Bu DX, Hayfron K, Pinkerton KE, Bevins CL, Lichtman A, Wiedeman J. A combination of secondhand cigarette smoke and Chlamydia pneumoniae accelerates atherosclerosis. Atherosclerosis. 2012;222:59–66.PubMedCrossRef
81.
Ercolini AM, Miller SD. The role of infections in autoimmune disease. Clin Exp Immunol. 2009;155:1–15.PubMedCrossRef
82.
Shapira Y, Agmon-Levin N, Shoenfeld Y. Geoepidemiology of autoimmune rheumatic diseases. Nat Rev Rheumatol. 2010;6:468–76.PubMedCrossRef
83.
Amital H, Govoni M, Maya R, Meroni PL, Ori B, Shoenfeld Y, Tincani A, Trotta F, Sarzi-Puttini P, Atzeni F. Role of infectious agents in systemic rheumatic diseases. Clin Exp Rheumatol. 2008;26:S27–32.PubMed
84.
Detert J, Pischon N, Burmester GR, Buttgereit F. The association between rheumatoid arthritis and periodontal disease. Arthritis Res Ther. 2010;12:218.PubMedCrossRef
85.
Marchant C, Smith MD, Proudman S, Haynes DR, Bartold PM. Effect of porphyromonas gingivalis on citrullination of proteins by macrophages in vitro. J Periodontol. 2012. doi:10.​1902/​jop.​2012.​120103.
86.
Barragán-Martínez C, Speck-Hernández CA, Montoya-Ortiz G, Mantilla RD, Anaya JM, Rojas-Villarraga A. Organic solvents as risk factor for autoimmune diseases: a systematic review and meta-analysis. PLoS ONE. 2012;7:51506.CrossRef
87.
Newell GR, Stevens DA. Epstein-Barr virus antibody in systemic lupus erythematosus. Lancet. 1971;1:652.PubMedCrossRef
88.
Shapira Y, Poratkatz BS, Gilburd B, Barzilai O, Ram M, Blank M, Lindeberg S, Frostegård J, Anaya JM, Bizzaro N, Jara LJ, Damoiseaux J, Shoenfeld Y, Levin NA. Geographical differences in autoantibodies and anti-infectious agents antibodies among healthy adults. Clin Rev Allergy Immunol. 2012;42:154–63.PubMedCrossRef
89.
Poole BD, Templeton AK, Guthridge JM, Brown EJ, Harley JB, James JA. Aberrant Epstein-Barr viral infection in systemic lupus erythematosus. Autoimmun Rev. 2009;8:337–42.PubMedCrossRef
90.
Niller HH, Wolf H, Minarovits J. Regulation and dysregulation of Epstein-Barr virus latency: implications for the development of autoimmune diseases. Autoimmunity. 2008;41:298–328.PubMedCrossRef
91.
92.
Desailloud R, Hober D. Viruses and thyroiditis: an update. Virol J. 2009;12:5.CrossRef
93.
Lucas RM, Hughes AM, Lay ML, Ponsonby AL, Dwyer DE, Taylor BV, Pender MP. Epstein-Barr virus and multiple sclerosis. J Neurol Neurosurg Psychiatry. 2011;82:1142–8.PubMedCrossRef
94.
Zandman-Goddard G, Berkun Y, Barzilai O, Boaz M, Blank M, Ram M, Sherer Y, Anaya JM, Shoenfeld Y. Exposure to Epstein-Barr virus infection is associated with mild systemic lupus erythematosus disease. Ann NY Acad Sci. 2009;1173:658–63.PubMedCrossRef
95.
Fukuda MV, Lo SC, de Almeida CS, Shinjo SK. Anti-Ro antibody and cutaneous vasculitis in systemic lupus erythematosus. Clin Rheumatol. 2009;28:301–4.PubMedCrossRef
96.
Poole BD, Gross T, Maier S, Harley JB, James JA. Lupus-like autoantibody development in rabbits and mice after immunization with EBNA-1 fragments. J Autoimmun. 2008;31:362–71.PubMedCrossRef
97.
Pender MP. Preventing and curing multiple sclerosis by controlling Epstein-Barr virus infection. Autoimmun Rev. 2009;8:563–8.PubMedCrossRef
98.
Agmon-Levin N, Ram O, Barzilai M, Porat-Katz S, Parikman R, Selmi C, Gershwin ME, Anaya JM, Youinou P, Bizzaro N, Tincani A, Tzioufas AG, Cervera R, Stojanovich L, Martin J, Gonzalez-Gay MA, Valentini G, Blank M, SanMarco M, Rozman B, Bombardieri S, De Vita S, Shoenfeld Y. Prevalence of hepatitis C serum antibody in autoimmune diseases. Autoimmun. 2009;32:261–6.CrossRef
99.
Lyons PA, Rayner TF, Trivedi S, Holle JU, Watts RA, Jayne DR, Baslund B, Brenchley P, Bruchfeld A, Chaudhry AN, Cohen Tervaert JW, Deloukas P, Feighery C, Gross WL, Guillevin L, Gunnarsson I, Harper L, Hrušková Z, Little MA, Martorana D, Neumann T, Ohlsson S, Padmanabhan S, Pusey CD, Salama AD, Sanders JS, Savage CO, Segelmark M, Stegeman CA, Tesař V, Vaglio A, Wieczorek S, Wilde B, Zwerina J, Rees AJ, Clayton DG, Smith KG. Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med. 2012;367:214–23.PubMedCrossRef
100.
Weidensaul D, Imam T, Holyst MM, King PD, McMurray RW. Polymyositis, pulmonary fibrosis, and hepatitis C. Arthritis Rheum. 1995;38:437–9.PubMedCrossRef
101.
Moore PA, Belvedere O, Orr A, Pieri K, LaFleur DW, Feng P, Soppet D, Charters M, Gentz R, Parmelee D, Li Y, Galperina O, Giri J, Roschke V, Nardelli B, Carrell J, Sosnovtseva S, Greenfield W, Ruben SM, Olsen HS, Fikes J, Hilbert DM. BLyS: member of the tumor necrosis factor family and B lymphocyte stimulator. Science. 1999;285:260.PubMedCrossRef
102.
Toubi E, Gordon S, Kessel A, Rosner I, Rozenbaum M, Shoenfeld Y, Zuckerman E. Elevated serum B-Lymphocyte activating factor (BAFF) in chronic hepatitis C virus infection: association with autoimmunity. J Autoimmun. 2006;27:134–9.PubMedCrossRef
103.
Cacoub P, Renou C, Kerr G, Hüe S, Rosenthal E, Cohen P, Kaplanski G, Charlotte F, Thibault V, Ghillani P, Piette JC, Caillat-Zucman S. Influence of HLA-DR phenotype on the risk of hepatitis C virus-associated mixed cryoglobulinemia. Arthritis Rheum. 2011;44:2118–24.CrossRef
104.
García-Carrasco M, Ramos-Casals M, Cervera R, Font J, Vidal J, Muñoz FJ, Miret C, Espinosa G, Ingelmo M. Hepatitis C virus infection in “primary” Sjögren’s syndrome: prevalence and clinical significance in a series of 90 patients. Ann Rheum Dis. 1997;56:173–5.PubMedCrossRef
105.
Ramos-Casals M, García-Carrasco M, Cervera R, Rosas J, Trejo O, de la Red G, Sánchez-Tapias JM, Font J, Ingelmo M. Hepatitis C virus infection mimicking primary Sjögren’s syndrome. Clinical and immunologic description of 35 cases. Medicine (Baltimore). 2001;80:1–8.CrossRef
106.
Ramos-Casals M, Font J, García-Carrasco M, Cervera R, Jiménez S, Trejo O, de la Red G, Sánchez-Tapias JM, Ingelmo M. Hepatitis C virus infection mimicking systemic lupus erythematosus. Study of hepatitis C virus infection in a series of 134 Spanish patients with systemic lupus erythematosus. Arthritis Rheum. 2000;43:2801–6.PubMedCrossRef
107.
Rinaldi M, Perricone R, Blank M, Perricone C, Shoenfeld Y. Anti-Saccharomyces cerevisiae autoantibodies in autoimmune diseases: from bread baking to autoimmunity. Clin Rev Allergy Immunol. 2013. doi:10.​1007/​s12016-012-8344-9.
108.
Sicard D, Legras JL. Bread, beer and wine: yeast domestication in the Saccharomyces sensu stricto complex. C R Biol. 2011;334:229–36.PubMedCrossRef
109.
Gologan S, Iacob R, Preda C, Vadan R, Cotruta B, Catuneanu AM, Iacob S, Constantinescu I, Gheorghe L, Iobagiu S, Gheorghe C, Diculescu M. Higher titers of anti-Saccharomyces cerevisiae antibodies IgA and IgG are associated with more aggressive phenotypes in Romanian patients with Crohn’s disease. J Gastrointestin Liver Dis. 2012;21:39–44.PubMed
110.
Krause I, Blank M, Cervera R, Font J, Matthias T, Pfeiffer S, Wies I, Fraser A, Shoenfeld Y. Cross-reactive epitopes on β2-glycoprotein-I and saccharomyces cerevisiae in patients with the antiphospholipid syndrome. Ann N Y Acad Sci. 2007;1108:481–8.PubMedCrossRef
111.
Dai H, Li Z, Zhang Y, Lv P, Gao XM. Elevated levels of serum antibodies against Saccharomyces cerevisiae mannan in patients with systemic lupus erythematosus. Lupus. 2009;18:1087–90.PubMedCrossRef
112.
Sakly W, Mankaï A, Sakly N, Thabet Y, Achour A, Ghedira-Besbes L, Jeddi M, Ghedira I. Anti-Saccharomyces cerevisiae antibodies are frequent in type 1 diabetes. Endocr Pathol. 2010;21:108–14.PubMedCrossRef
113.
Dai H, Li Z, Zhang Y, Lv P, Gao XM. Elevated levels of serum IgA against Saccharomyces cerevisiae mannan in patients with rheumatoid arthritis. Cell Mol Immunol. 2009;6:361–6.PubMedCrossRef
114.
Cinemre H, Bilir C, Gokosmanoglu F, Kadakal F. Anti-Saccharomyces cerevisiae antibodies in acute myocardial infarction. J Investig Med. 2007;55:444–9.PubMedCrossRef
115.
Marrakchi R, Bougatef K, Moussa A, Ouerhani S, Khodjet-el-Khil H, Messai Y, Mestiri O, Najar T, Benammar-Elgaaeid A. 3020insC insertion in NOD2/CARD15 gene, a prevalent variant associated with anti-Saccharomyces cerevisiae antibodies and ileal location of Crohn’s disease in Tunisian population. Inflamm Res. 2009;58:218–23.PubMedCrossRef
116.
Takedatsu H, Taylor KD, Mei L, McGovern DP, Landers CJ, Gonsky R, Cong Y, Vasiliauskas EA, Ippoliti A, Elson CO, Rotter JI, Targan SR. Linkage of Crohn’s disease-related serological phenotypes: NFKB1 haplotypes are associated with anti-CBir1 and ASCA, and show reduced NF-kappaB activation. Gut. 2009;58:60–7.PubMedCrossRef
117.
Seibold S. ASCA: genetic marker, predictor of disease, or marker of a response to an environmental antigen? Gut. 2005;54:1212–3.PubMedCrossRef
118.
Israeli E, Grotto I, Gilburd B, Balicer RD, Goldin E, Wiik A, Shoenfeld Y. Anti-Saccharomyces cerevisiae mannan antibodies (ASCA) in CD. Perinuclear anti-neutrophil cytoplasm antibodies (pANCA) in UC. The presence of these antibodies before the clinical diagnosis? Anti-Saccharomyces cerevisiae and ANCA as predictors of inflammatory bowel disease. Gut. 2005;54:1232–6.PubMedCrossRef
119.
Cruz-Tapias P, Pérez-Fernández OM, Rojas-Villarraga A, Rodríguez-Rodríguez A, Arango MT, Anaya JM. Shared HLA class II in six autoimmune diseases in latin America: A meta-analysis. Autoimmune Dis. 2012;2012:569728.PubMed
120.
Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, Ortmann W, Kosoy R, Ferreira RC, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Rantapää-Dahlqvist S, Baechler EC, Brown EE, Alarcón GS, Edberg JC, Ramsey-Goldman R, McGwin G Jr, Reveille JD, Vilá LM, Kimberly RP, Manzi S, Petri MA, Lee A, Gregersen PK, Seldin MF, Rönnblom L, Criswell LA, Syvänen AC, Behrens TW, Graham RR. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet. 2009;41:1228–33.PubMedCrossRef
121.
Chung SA, Taylor KE, Graham RR, Nititham J, Lee AT, Ortmann WA, Jacob CO, Alarcón-Riquelme ME, Tsao BP, Harley JB, Gaffney PM, Moser KL, SLEGEN, Petri M, Demirci FY, Kamboh MI, Manzi S, Gregersen PK, Langefeld CD, Behrens TW, Criswell LA. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. PLoS Genet. 2011;7:e1001323.PubMedCrossRef
122.
Wu CS, Hu CY, Hsu PN. Anti-SSB/La antibody is negatively associated with HLA-DR2 in chronic hepatitis C infection. Clin Rheumatol. 2008;27:365–8.PubMedCrossRef
123.
Rojas-Villarraga A, Diaz FJ, Calvo-Páramo E, Salazar JC, Iglesias-Gamarra A, Mantilla RD, Anaya JM. Familial disease, the HLA-DRB1 shared epitope and anti-CCP antibodies influence time at appearance of substantial joint damage in rheumatoid arthritis. J Autoimmun. 2009;32:64–9.PubMedCrossRef
124.
Willemze A, van der Woude D, Ghidey W, Levarht EW, Stoeken-Rijsbergen G, Verduyn W, de Vries RR, Houwing-Duistermaat JJ, Huizinga TW, Trouw LA, Toes RE. The interaction between HLA shared epitope alleles and smoking and its contribution to autoimmunity against several citrullinated antigens. Arthritis Rheum. 2011;63:1823–32.PubMedCrossRef
125.
Djilali-Saiah I, Fakhfakh A, Louafi H, Caillat-Zucman S, Debray D, Alvarez F. HLA class II influences humoral autoimmunity in patients with type 2 autoimmune hepatitis. J Hepatol. 2006;45:844–50.PubMedCrossRef
126.
Kanga U, Tandon N, Marwaha RK, Khanna R, Bhattacharya B, Singh S, Kumar N, Mehra NK. Immunogenetic association and thyroid autoantibodies in juvenile autoimmune thyroiditis in North India. Clin Endocrinol (Oxf). 2006;64:573–9.PubMedCrossRef
127.
Barker JM, Ide A, Hostetler C, Yu L, Miao D, Fain PR, Eisenbarth GS, Gottlieb PA. 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. 2005;90:128–34.PubMedCrossRef
128.
Zhu F, Sun Y, Wang M, Ma S, Chen X, Cao A, Chen F, Qiu Y, Liao Y. Correlation between HLA-DRB1, HLA-DQB1 polymorphism and autoantibodies against angiotensin AT(1) receptors in Chinese patients with essential hypertension. Clin Cardiol. 2011;34:302–8.PubMedCrossRef
129.
Flach TL, Ng G, Hari A, Desrosiers MD, Zhang P, Ward SM, Seamone ME, Vilaysane A, Mucsi AD, Fong Y, Prenner E, Ling CC, Tschopp J, Muruve DA, Amrein MW, Shi Y. Alum interaction with dendritic cell membrane lipids is essential for its adjuvanticity. Nat Med. 2011;17:479–87.PubMedCrossRef
130.
Shoenfeld Y, Agmon-Levin N. ‘ASIA’—autoimmune/inflammatory syndrome induced by adjuvants. J Autoimmun. 2011;36:4–8.PubMedCrossRef
131.
Perricone C, Alessandri C, Valesini G. ‘ASIA’—Autoimmune/inflammatory syndrome induced by adjuvants: even and odd. Reumatismo. 2011;63:63–6.PubMed
132.
Daha NA, Toes RE. Rheumatoid arthritis: Are ACPA-positive and ACPA-negative RA the same disease? Nat Rev Rheumatol. 2011;7:202–3.PubMedCrossRef
Metadata
Title
Genetics and autoantibodies
Authors
Carlo Perricone
Nancy Agmon-Levin
Fulvia Ceccarelli
Guido Valesini
Juan-Manuel Anaya
Yehuda Shoenfeld
Publication date
01-07-2013
Publisher
Springer-Verlag
Published in
Immunologic Research / Issue 2-3/2013
Print ISSN: 0257-277X
Electronic ISSN: 1559-0755
DOI
https://doi.org/10.1007/s12026-013-8396-9

Other articles of this Issue 2-3/2013

Immunologic Research 2-3/2013 Go to the issue

Diagnosis of Autoimmunity

Evaluation of an automated chemiluminescent immunoassay kit for antinuclear antibodies in autoimmune diseases

Treatment of Autoimmunity

E148Q MEFV mutation carriage and longevity in individuals of Ashkenazi origin

Diagnosis of Autoimmunity

Detecting multiple autoantibodies to diagnose autoimmune co-morbidity (multiple autoimmune syndromes and overlap syndromes): a challenge for the autoimmunologist

Diagnosis of Autoimmunity

Deoxyribonuclease activity of polyclonal IgGs: a putative serological marker in patients with spondyloarthritides

DIAGNOSIS OF AUTOIMMUNITY

Pentraxin 3 is a marker of early joint inflammation in patients with juvenile idiopathic arthritis

Etio Pathogenesis of Autoimmunity

Silicone implant incompatibility syndrome (SIIS): A frequent cause of ASIA (Shoenfeld’s syndrome)