Environmental and genetic factors in the development of anticitrullinated protein antibodies (ACPAs) and ACPA-positive rheumatoid arthritis: An epidemiological investigation in twins

Annals of the Rheumatic Diseases

Volumn 74, Issue 2, 2015, Pages 375-380

  Hensvold, Aase Haj ^a   Magnusson, Patrik K E ^b   Joshua, Vijay ^a   Hansson, Monika ^a   Israelsson, Lena ^a   Ferreira, Ricardo ^a   Jakobsson, Per Johan ^a   Holmdahl, Rikard ^b   Hammarström, Lennart ^a   Malmström, Vivianne ^a   Askling, Johan ^a,b   Klareskog, Lars ^a   Catrina, Anca Irinel ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ENOLASE; CITRULLINATED PROTEIN ANTIBODY; COLLAGEN TYPE 2; EPITOPE; FIBRINOGEN; HLA DRB1 ANTIGEN; PROTEIN ANTIBODY; UNCLASSIFIED DRUG; VIMENTIN; AUTOANTIBODY; CITRULLINE;

ADULT; AGED; ALLELE; ANTIBODY RESPONSE; ARTICLE; BLOOD SAMPLING; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SURVEILLANCE; ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL FACTOR; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC ASSOCIATION; HEREDITY; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; PREVALENCE; RHEUMATOID ARTHRITIS; SEX DIFFERENCE; SMOKING; SWEDISH CITIZEN; TWIN CONCORDANCE; TWINS; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; IMMUNOLOGY; MIDDLE AGED; SOCIOECONOMICS; VERY ELDERLY;

AGED; AGED, 80 AND OVER; ARTHRITIS, RHEUMATOID; AUTOANTIBODIES; CITRULLINE; ENZYME-LINKED IMMUNOSORBENT ASSAY; EPITOPES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HLA-DRB1 CHAINS; HUMANS; MALE; MIDDLE AGED; SMOKING; SOCIOECONOMIC FACTORS;

EID: 84921345407     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2013-203947     Document Type: Article

References (47)

1. Klareskog L, Catrina AI, Paget S. Rheumatoid arthritis. Lancet 2009;373:659-72.
2. Klareskog L, Stolt P, Lundberg K, et al. A new model for an etiology of rheumatoid arthritis: smoking may trigger HLA-DR (shared epitope)-restricted immune reactions to autoantigens modified by citrullination. Arthritis Rheum 2006;54:38-46.
3. Makrygiannakis D, Hermansson M, Ulfgren AK, et al. Smoking increases peptidylarginine deiminase 2 enzyme expression in human lungs and increases citrullination in BAL cells. Ann Rheum Dis 2008;67:1488-92.
4. Klareskog L, Malmstrom V, Lundberg K, et al. Smoking, citrullination and genetic variability in the immunopathogenesis of rheumatoid arthritis. Semin Immunol 2011;23:92-8.
5. Nielen MM, van Schaardenburg D, Reesink HW, et al. Specific autoantibodies precede the symptoms of rheumatoid arthritis: a study of serial measurements in blood donors. Arthritis Rheum 2004;50:380-6.
6. Rantapaa-Dahlqvist S, de Jong BA, Berglin E, et al. Antibodies against cyclic citrullinated peptide and IgA rheumatoid factor predict the development of rheumatoid arthritis. Arthritis Rheum 2003;48:2741-9.
7. van der Woude D, Rantapaa-Dahlqvist S, Ioan-Facsinay A, et al. Epitope spreading of the anti-citrullinated protein antibody response occurs before disease onset and is associated with the disease course of early arthritis. Ann Rheum Dis 2010;69:1554-61.
8. Kokkonen H, Mullazehi M, Berglin E, et al. Antibodies of IgG, IgA and IgM isotypes against cyclic citrullinated peptide precede the development of rheumatoid arthritis. Arthritis Res Ther 2011;13:R13.
9. Lundberg K, Bengtsson C, Kharlamova N, et al. Genetic and environmental determinants for disease risk in subsets of rheumatoid arthritis defined by the anticitrullinated protein/peptide antibody fine specificity profile. Ann Rheum Dis 2013;72:652-8.
10. Pedersen M, Jacobsen S, Garred P, et al. Strong combined gene-environment effects in anti-cyclic citrullinated peptide-positive rheumatoid arthritis: a nationwide case-control study in Denmark. Arthritis Rheum 2007;56:1446-53.
11. Too CL, Yahya A, Murad S, et al. Smoking interacts with HLA-DRB1 shared epitope in the development of anti-citrullinated protein antibody-positive rheumatoid arthritis: results from the Malaysian Epidemiological Investigation of Rheumatoid Arthritis (MyEIRA). Arthritis Res Ther 2012;14:R89.
12. Arlestig L, Mullazehi M, Kokkonen H, et al. Antibodies against cyclic citrullinated peptides of IgG, IgA and IgM isotype and rheumatoid factor of IgM and IgA isotype are increased in unaffected members of multicase rheumatoid arthritis families from northern Sweden. Ann Rheum Dis 2012;71:825-9.
13. Kolfenbach JR, Deane KD, Derber LA, et al. A prospective approach to investigating the natural history of preclinical rheumatoid arthritis (RA) using first-degree relatives of probands with RA. Arthritis Rheum 2009;61:1735-42.
14. El-Gabalawy HS, Robinson DB, Hart D, et al. Immunogenetic risks of anti-cyclical citrullinated peptide antibodies in a North American Native population with rheumatoid arthritis and their first-degree relatives. J Rheumatol 2009;36:1130-5.
15. Svendsen AJ, Hjelmborg JV, Kyvik KO, et al. The impact of genes on the occurrence of autoantibodies in rheumatoid arthritis. A study on disease discordant twin pairs. J Autoimmun 2013;41:120-5.
16. Barra L, Scinocca M, Saunders S, et al. Anti-citrullinated protein antibodies (ACPA) in unaffected first degree relatives of rheumatoid arthritis patients. Arthritis Rheum 2013;65:1439-47.
17. Gerlag DM, Raza K, van Baarsen LG, et al. EULAR recommendations for terminology and research in individuals at risk of rheumatoid arthritis: report from the Study Group for Risk Factors for Rheumatoid Arthritis. Ann Rheum Dis 2012;71:638-41.
18. MacGregor AJ, Snieder H, Rigby AS, et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000;43:30-7.
19. Aho K, Koskenvuo M, Tuominen J, et al. Occurrence of rheumatoid arthritis in a nationwide series of twins. J Rheumatol 1986;13:899-902.
20. Silman AJ, MacGregor AJ, Thomson W, et al. Twin concordance rates for rheumatoid arthritis: results from a nationwide study. Br J Rheumatol 1993;32:903-7.
21. van der Woude D, Houwing-Duistermaat JJ, Toes RE, et al. Quantitative heritability of anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis. Arthritis Rheum 2009;60:916-23.
22. Svendsen AJ, Kyvik KO, Houen G, et al. On the origin of rheumatoid arthritis: the impact of environment and genes-a population based twin study. PLoS ONE 2013;8:e57304.
23. Magnusson PK, Almqvist C, Rahman I, et al. The Swedish twin registry: establishment of a biobank and other recent developments. Twin Res Hum Genet 2013;16:317-29.
24. Rahman I, Bennet AM, Pedersen NL, et al. Genetic dominance influences blood biomarker levels in a sample of 12,000 Swedish elderly twins. Twin Res Hum Genet 2009;12:286-94.
25. Lichtenstein P, Sullivan PF, Cnattingius S, et al. The Swedish Twin Registry in the third millennium: an update. Twin Res Hum Genet 2006;9:875-82.
26. Baecklund E, Iliadou A, Askling J, et al. Association of chronic inflammation, not its treatment, with increased lymphoma risk in rheumatoid arthritis. Arthritis Rheum 2006;54:692-701.
27. Knight A, Sandin S, Askling J. Increased risk of autoimmune disease in families with Wegener's granulomatosis. J Rheumatol 2010;37:2553-8.
28. Burkhardt H, Sehnert B, Bockermann R, et al. Humoral immune response to citrullinated collagen type II determinants in early rheumatoid arthritis. Eur J Immunol 2005;35:1643-52.
29. Wegner N, Lundberg K, Kinloch A, et al. Autoimmunity to specific citrullinated proteins gives the first clues to the etiology of rheumatoid arthritis. Immunol Rev 2010;233:34-54.
30. Mahdi H, Fisher BA, Kallberg H, et al. Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis. Nat Genet 2009;41:1319-24.
31. Snir O, Widhe M, Hermansson M, et al. Antibodies to several citrullinated antigens are enriched in the joints of rheumatoid arthritis patients. Arthritis Rheum 2010;62:44-52.
32. Hermansson M, Artemenko K, Ossipova E, et al. MS analysis of rheumatoid arthritic synovial tissue identifies specific citrullination sites on fibrinogen. Proteomics Clin Appl 2010;4:511-18.
33. Hansson M, Mathsson L, Schlederer T, et al. Validation of a multiplex chip-based assay for the detection of autoantibodies against citrullinated peptides. Arthritis Res Ther 2012;14:R201.
34. Dilthey AT, Moutsianas L, Leslie S, et al. HLA∗IMP - an integrated framework for imputing classical HLA alleles from SNP genotypes. Bioinformatics 2011;27:968-72.
35. Raychaudhuri S, Sandor C, Stahl EA, et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet 2012;44:291-6.
36. Eriksson JK, Neovius M, Ernestam S, et al. Incidence of Rheumatoid Arthritis in Sweden - a nationwide population-based assessment of incidence, its determinants, and treatment penetration. Arthritis Care Res (Hoboken) 2012;65:870-8.
37. Neovius M, Simard JF, Askling J. Nationwide prevalence of rheumatoid arthritis and penetration of disease-modifying drugs in Sweden. Ann Rheum Dis 2011;70:624-9.
38. van der Woude D, Lie BA, Lundstrom E, et al. Protection against anti-citrullinated protein antibody-positive rheumatoid arthritis is predominantly associated with HLA-DRB1∗1301: a meta-analysis of HLA-DRB1 associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in four European populations. Arthritis Rheum 2010;62:1236-45.
39. Lindblad BE, Hakansson N, Svensson H, et al. Intensity of smoking and smoking cessation in relation to risk of cataract extraction: a prospective study of women. Am J Epidemiol 2005;162:73-9.
40. Rosengren A, Eriksson H, Larsson B, et al. Secular changes in cardiovascular risk factors over 30 years in Swedish men aged 50: the study of men born in 1913, 1923, 1933 and 1943. J Intern Med 2000;247:111-18.
41. van Venrooij WJ, van Beers JJ, Pruijn GJ. Anti-CCP antibodies: the past, the present and the future. Nat Rev Rheumatol 2011;7:391-8.
42. Nishimura K, Sugiyama D, Kogata Y, et al. Meta-analysis: diagnostic accuracy of anti-cyclic citrullinated peptide antibody and rheumatoid factor for rheumatoid arthritis. Ann Intern Med 2007;146:797-808.
43. Brink M, Hansson M, Mathsson L, et al. Multiplex analyses of antibodies against citrullinated peptides in individuals prior to development of rheumatoid arthritis. Arthritis Rheum 2012;65:899-910.
44. Bellamy N, Duffy D, Martin N, et al. Rheumatoid arthritis in twins: a study of aetiopathogenesis based on the Australian Twin Registry. Ann Rheum Dis 1992;51:588-93.
45. Bellamy N, Duffy DL, Sambrook P, et al. A methodological appraisal of the impact of different classification procedures used in three different phases of the australian rheumatoid arthritis twin survey. Inflammopharmacology 1998;6:81-9.
46. Svendsen AJ, Holm NV, Kyvik K, et al. Relative importance of genetic effects in rheumatoid arthritis: historical cohort study of Danish nationwide twin population. BMJ 2002;324:264-6.
47. Ioan-Facsinay A, Willemze A, Robinson DB, et al. Marked differences in fine specificity and isotype usage of the anti-citrullinated protein antibody in health and disease. Arthritis Rheum 2008;58:3000-8.