Familial autoimmunity in systemic sclerosis - results of a french-based case-control family study

Journal of Rheumatology

Volumn 39, Issue 3, 2012, Pages 532-538

  Koumakis, Eugénie ^a   Dieudé, Philippe ^a   Avouac, Jérôme ^a   Kahan, André ^a   Allanore, Yannick ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Autoimmune disease; Familial aggregation; Systemic sclerosis; Thyroiditis

Indexed keywords

ADULT; ARTICLE; AUTOIMMUNE HEPATITIS; AUTOIMMUNE THYROIDITIS; AUTOIMMUNITY; CASE CONTROL STUDY; CELIAC DISEASE; CONTROLLED STUDY; ENTERITIS; FAMILIAL AUTOIMMUNITY; FAMILY STUDY; FEMALE; FRANCE; HEALTH SURVEY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; JUVENILE RHEUMATOID ARTHRITIS; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; PERNICIOUS ANEMIA; PREVALENCE; PRIMARY BILIARY CIRRHOSIS; PRIORITY JOURNAL; PSORIASIS; PSORIATIC ARTHRITIS; QUESTIONNAIRE; RETROSPECTIVE STUDY; RHEUMATOID ARTHRITIS; SELF REPORT; SJOEGREN SYNDROME; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC SCLEROSIS; VITILIGO;

ADULT; AGED; AUTOIMMUNE DISEASES; CASE-CONTROL STUDIES; COMORBIDITY; FEMALE; FRANCE; HEALTH SURVEYS; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; PREVALENCE; QUESTIONNAIRES; RETROSPECTIVE STUDIES; SCLERODERMA, SYSTEMIC;

EID: 84857881751     PISSN: 0315162X     EISSN: 14992752     Source Type: Journal    
DOI: 10.3899/jrheum.111104     Document Type: Article

References (41)

1. Allanore Y, Dieude P, Boileau C. Updating the genetics of systemic sclerosis. Curr Opin Rheumatol 2010;22:665-70.
2. Zhernakova A, van Diemen CC, Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet 2009;10:43-55.
3. Hemminki K, Li X, Sundquist J, Sundquist K. Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions. Arthritis Rheum 2009;60:661-8.
4. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, et al. Analysis of families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) collection: The PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005;76:561-71. (Pubitemid 40432164)
5. Hemminki K, Li X, Sundquist K, Sundquist J. Shared familial aggregation of susceptibility to autoimmune diseases. Arthritis Rheum 2009;60:2845-7.
6. Alarcon-Segovia D, Alarcon-Riquelme ME, Cardiel MH, Caeiro F, Massardo L, Villa AR, et al. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 2005;52:1138-47. (Pubitemid 40530121)
7. Anaya JM, Castiblanco J, Tobon GJ, Garcia J, Abad V, Cuervo H, et al. Familial clustering of autoimmune diseases in patients with type 1 diabetes mellitus. J Autoimmun 2006;26:208-14. (Pubitemid 43737333)
8. Barcellos LF, Kamdar BB, Ramsay PP, DeLoa C, Lincoln RR, Caillier S, et al. Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: A descriptive study. Lancet Neurol 2006;5:924-31. (Pubitemid 44556542)
9. Anaya JM, Tobon GJ, Vega P, Castiblanco J. Autoimmune disease aggregation in families with primary Sjogren's syndrome. J Rheumatol 2006;33:2227-34. (Pubitemid 44749782)
10. Avouac J, Sordet C, Depinay C, Ardizonne M, Vacher-Lavenu MC, Sibilia J, et al. Systemic sclerosis-associated Sjögren's syndrome and relationship to the limited cutaneous subtype: Results of a prospective study of sicca syndrome in 133 consecutive patients. Arthritis Rheum 2006;54:2243-9. (Pubitemid 44051082)
11. Hudson M, Rojas-Villarraga A, Coral-Alvarado P, Lopez-Guzman S, Mantilla RD, Chalem P, et al. Polyautoimmunity and familial autoimmunity in systemic sclerosis. J Autoimmun 2008;31:156-9.
12. Avouac J, Airò P, Dieude P, Caramaschi P, Tiev K, Diot E, et al. Associated autoimmune diseases in systemic sclerosis define a subset of patients with milder disease: Results from 2 large cohorts of European Caucasian patients. J Rheumatol 2010;37:608-14.
13. Frech T, Khanna D, Markewitz B, Mineau G, Pimentel R, Sawitzke A. Heritability of vasculopathy, autoimmune disease, and fibrosis in systemic sclerosis: A population-based study. Arthritis Rheum 2010;62:2109-16.
14. Arora-Singh RK, Assassi S, del Junco DJ, Arnett FC, Perry M, Irfan U, et al. Autoimmune diseases and autoantibodies in the first degree relatives of patients with systemic sclerosis. J Autoimmun 2010;35:52-7.
15. Hilliquin P, Allanore Y, Coste J, Renoux M, Kahan A, Menkes CJ. Reduced incidence and prevalence of atopy in rheumatoid arthritis. Results of a case-control study. Rheumatology 2000;39:1020-6.
16. Lin JP, Cash JM, Doyle SZ, Peden S, Kanik K, Amos CI, et al. Familial clustering of rheumatoid arthritis with other autoimmune diseases. Hum Genet 1998;103:475-82. (Pubitemid 28542960)
17. Englert H, Small-McMahon J, Chambers P, O'Connor H, Davis K, Manolios N, et al. Familial risk estimation in systemic sclerosis. Aust NZ J Med 1999;29:36-41. (Pubitemid 29136655)
18. Arnett FC, Cho M, Chatterjee S, Aguilar MB, Reveille JD, Mayes MD. Familial occurrence frequencies and relative risks for systemic sclerosis (scleroderma) in three United States cohorts. Arthritis Rheum 2001;44:1359-62. (Pubitemid 32537534)
19. Broadley SA, Deans J, Sawcer SJ, Clayton D, Compston DA. Autoimmune disease in first-degree relatives of patients with multiple sclerosis. A UK survey. Brain 2000;123 Pt 6:1102-11. (Pubitemid 30312103)
20. Dieude P, Guedj M, Wipff J, Avouac J, Fajardy I, Diot E, et al. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: A new perspective for pulmonary fibrosis. Arthritis Rheum 2009;60:225-33.
21. Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci USA 2007;104:6758-63. (Pubitemid 47175574)
22. Dieude P, Guedj M, Wipff J, Ruiz B, Hachulla E, Diot E, et al. STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis. Arthritis Rheum 2009;60:2472-9.
23. Dieude P, Guedj M, Wipff J, Avouac J, Hachulla E, Diot E, et al. The PTPN22 620W allele confers susceptibility to systemic sclerosis: Findings of a large case-control study of European Caucasians and a meta-analysis. Arthritis Rheum 2008;58:2183-8. (Pubitemid 351988112)
24. Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, et al. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Hum Mol Genet 2008;17:2868-76.
25. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007;357:977-86. (Pubitemid 47367077)
26. Dieude P, Wipff J, Guedj M, Ruiz B, Melchers I, Hachulla E, et al. BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4. Arthritis Rheum 2009;60:3447-54.
27. Dieude P, Guedj M, Wipff J, Ruiz B, Riemekasten G, Matucci-Cerinic M, et al. Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population. Ann Rheum Dis 2010;69:1958-64.
28. Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008;40:211-6. (Pubitemid 351171404)
29. Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S, et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008; 658:900-9. (Pubitemid 351397089)
30. Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004;89:5862-5. (Pubitemid 39518482)
31. Lee FI, Bellary SV, Francis C. Increased occurrence of psoriasis in patients with Crohn's disease and their relatives. Am J Gastroenterol 1990;85:962-3. (Pubitemid 20235791)
32. Bernstein CN, Wajda A, Blanchard JF. The clustering of other chronic inflammatory diseases in inflammatory bowel disease: A population-based study. Gastroenterology 2005;129:827-36. (Pubitemid 41242675)
33. Hemminki K, Li X, Sundquist K, Sundquist J. Familial association of inflammatory bowel diseases with other autoimmune and related diseases. Am J Gastroenterol 2010;105:139-47.
34. Khor B, Gardet A, Xavier RJ. Genetics and pathogenesis of inflammatory bowel disease. Nature 2011;474:307-17.
35. Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 2011;43:246-52.
36. Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, et al. An insertion-deletion polymorphism in the interferon regulatory factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum Mol Genet 2007;16:3008-16. (Pubitemid 350131319)
37. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006;314:1461-3. (Pubitemid 44871953)
38. Momozawa Y, Mni M, Nakamura K, Coppieters W, Almer S, Amininejad L, et al. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet 2011;43:43-7.
39. Varade J, Ramon Lamas J, Rodriguez L, Fernandez-Arquero M, Loza-Santamaria E, Jover JA, et al. IL23R and IL12B genes: susceptibility analysis in rheumatoid arthritis. Ann Rheum Dis 2009;68:1230-2.
40. Anaya JM, Corena R, Castiblanco J, Rojas-Villarraga A, Shoenfeld Y. The kaleidoscope of autoimmunity: multiple autoimmune syndromes and familial autoimmunity. Exp Rev Clin Immunol 2007;3:623-35. (Pubitemid 47096486)
41. Cooper GS, Wither J, McKenzie T, Claudio JO, Bernatsky S, Fortin PR. The prevalence and accuracy of self-reported history of 11 autoimmune diseases. J Rheumatol 2008;35:2001-4.