Genetic background of systemic sclerosis: Autoimmune genes take centre stage

Rheumatology

Volumn 49, Issue 2, 2010, Pages 203-210

  Allanore, Yannick ^a   Dieude, Philippe ^a   Boileau, Catherine ^a,b  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

Autoimmunity; Genes; Polymorphisms; SSc

Indexed keywords

BANK1 PROTEIN; INTERFERON REGULATORY FACTOR 5; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; SCAFFOLD PROTEIN; STAT4 PROTEIN; UNCLASSIFIED DRUG;

AUTOIMMUNE DISEASE; FIBROSING ALVEOLITIS; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; IMMUNOGENETICS; INNATE IMMUNITY; INTERFERON PRODUCTION; LYMPHOCYTE DIFFERENTIATION; MARKER GENE; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC SCLEROSIS;

ADULT; AGED; AUTOIMMUNE DISEASES; CELL DIFFERENTIATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNITY, INNATE; MIDDLE AGED; SCLERODERMA, SYSTEMIC; SIGNAL TRANSDUCTION; T-LYMPHOCYTES;

EID: 77950391545     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kep368     Document Type: Review

References (57)

1. Allanore Y, Avouac J, Wipff J, Kahan A. New therapeutic strategies in the management of systemic sclerosis. Expert Opin Pharmacother 2007;8:607-15.
2. Ioannidis JP, Vlachoyiannopoulos PG, Haidich AB et al. Mortality in systemic sclerosis: an international metaanalysis of individual patient data. Am J Med 2005;118: 2-10.
3. Scussel-lonzetti L, Joyal F, Raynauld JP et al. Predicting mortality in systemic sclerosis: analysis of a cohort of 309 French Canadian patients with emphasis on features at diagnosis as predictive factors for survival. Medicine 2002; 81:154-67.
4. Ferri C, Valentini G, Cozzi F et al. Systemic Sclerosis Study Group of the Italian Society of Rheumatology (SIRGSScS). Systemic sclerosis: demographic, clinical, and serologic features and survival in 1012 Italian patients. Medicine 2002;81:139-53.
5. Allanore Y, Avouac J, Kahan A. Systemic sclerosis: an update in 2008. Joint Bone Spine 2008;75:650-5.
6. Condliffe R, Kiely DG, Peacock AJ et al. Connective tissue disease-associated pulmonary arterial hypertension in the modern treatment era. Am J Respir Crit Care Med 2009; 179:151-7.
7. Miniati I, Valentini G, Cerinic MM. Cyclophosphamide in systemic sclerosis: still in search of a 'real life' scenario. Arthritis Res Ther 2009;11:103.
8. Bernatsky S, Joseph L, Pineau CA, Belisle P, Hudson M, Clarke AE. Scleroderma prevalence: demographic variations in a population-based sample. Arthritis Rheum 2009;61:400-4.
9. Mayes MD, Lacey JV Jr, Beebe-Dimmer J et al. Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population. Arthritis Rheum 2003;48:2246-55.
10. Maricq HR, Weinrich MC, Keil JE et al. Prevalence of scleroderma spectrum disorders in the general population of South Carolina. Arthritis Rheum 1989;32:998-1006.
11. Asboe-Hansen G. Epidemiology of progressive systemic sclerosis in Denmark. In: Black CM, Myers AR, eds Systemic sclerosis (scleroderma). New York: Gower, 1985:78.
12. Le Guern V, Mahr A, Mouthon L et al. Prevalence of systemic sclerosis in a French multi-ethnic county. Rheumatology 2004;43:1129-37.
13. Allanore Y, Wipff J, Kahan A, Boileau C. Genetic basis or systemic sclerosis. Joint Bone Spine 2007;74:577-83.
14. Frazer KA, Ballinger DG, Cox DR et al. International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007;449: 851-61.
15. Remmers EF, Plenge RM, Lee AT et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007;357:977-86.
16. Fisher SA, Tremelling M, Anderson CA et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet 2008;40:710-2.
17. Arnett FC, Cho M, Chatterjee S et al. Familial occurrence frequencies and relative risk for systemic sclerosis (scleroderma) in three United States cohorts. Arthritis Rheum 2001;44:1352-62.
18. Feghali-Bostwick C, Medsger TA Jr, Wright TM. Analysis of systemic sclerosis in twins reveals low concordance for disease and high concordance for the presence of antinuclear antibodies. Arthritis Rheum 2003;48:1956-63.
19. Zhou X, Tan FK, Xiong M, Arnett FC, Feghali-Bostwick CA. Monozygotic twins clinically discordant for scleroderma show concordance for fibroblast gene expression profiles. Arthritis Rheum 2005;52:3305-14.
20. Li X, Sundquist J, Sundquist K. Risks of rheumatic diseases in first- and second-generation immigrants in Sweden: a nationwide followup study. Arthritis Rheum 2009;60:1588-96.
21. Hudson M, Rojas-Villarraga A, Coral-Alvarado P et al. Polyautoimmunity and familial autoimmunity in systemic sclerosis. J Autoimmun 2008;31:156-9.
22. Avouac J, Airò P, Dieude P et al. Associated autoimmune diseases in Systemic Sclerosis define a subset of patients with milder disease: results from two large cohorts of European Caucasian patients. EULAR Meeting 2009, # FRI324. J Rheumatol (in press).
23. 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.
24. Zhernakova A, van Diemen CC, Wijmenga C. Detecting shared pathogenesis from the shared genetics of immunerelated diseases. Nat Rev Genet 2009;10:43-55.
25. Reveille JD, Fischbach M, McNearney T et al. Systemic sclerosis in 3 US ethnic groups: a comparison of clinical, sociodemographic, serologic, and immunogenetic determinants. Semin Arthritis Rheum 2001;30:332-46.
26. Kuwana M, Inoko H, Kameda H et al. Association of human leukocyte antigen class II genes with autoantibody profiles, but not with disease susceptibility in Japanese patients with systemic sclerosis. Intern Med 1999;38: 336-44.
27. Arnett FC, Gourh P, Shete S et al. Major histocompatibility complex (MHC) class II alleles, haplotypes, and epitopes which confer susceptibility or protection in the fibrosing autoimmune disease systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. Ann Rheum Dis. Advance Access published July 12, 2009, doi: 10.1136/ard.2009.111906.
28. Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN) International et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008;40:204-10.
29. Fernando MM, Stevens CR, Walsh EC et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet 2008;4:e1000024.
30. Graham RR, Kyogoku C, Sigurdsson S 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.
31. Miceli-Richard C, Comets E, Loiseau P, Puechal X, Hachulla E, Mariette X. Association of an IRF5 gene functional polymorphism with Sjogren's syndrome. Arthritis Rheum 2007;56:3989-94.
32. Sargent JL, Milano A, Connolly MK, Whitfield ML. Scleroderma gene expression and pathway signatures. Curr Rheumatol Rep 2008;10:205-11.
33. Tan FK, Zhou X, Mayes MD et al. Signatures of differentially regulated interferon gene expression and vasculotrophism in the peripheral blood cells of systemic sclerosis patients. Rheumatology 2006;45:694-702.
34. Dieudé P, Guedj M, Wipff J et al. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum 2009;60:225-33.
35. Gourh P, Assassi S, Paz G et al. Association of interferon regulatory factor 5 (IRF5) polymorphisms with systemic sclerosis (SSc) ASHG 2008 Abstract number 2249. http://www.ashg.org/2008meeting/abstracts/fulltext/index.shtml.
36. Ito I, Kawaguchi Y, Kawasaki A et al. Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population. Arthritis Rheum 2009; 60:1845-50.
37. Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA. Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet 2009;10:285-90.
38. Martinez A, Varade J, Marquez A et al. Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases. Arthritis Rheum 2008;58: 2598-602.
39. Abelson AK, Delgado-Vega AM, Kozyrev SV et al. STAT4 associates with SLE through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk. Ann Rheum Dis 2009;68:1746-53.
40. Rueda B, Broen J, Simeon C et al. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Hum Mol Genet 2009;18:2071-7.
41. Dieudé P, Guedj M, Wipff J 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.
42. Tsuchiya N, Kawasaki A, Hasegawa M et al. Association of STAT4 polymorphism with systemic sclerosis in a Japanese population. Ann Rheum Dis 2009; 68:1375-6.
43. Sigurdsson S, Nordmark G, Garnier S 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.
44. Chung SA, Criswell LA. PTPN22: its role in SLE and autoimmunity. Autoimmunity 2007;40:582-90.
45. Gregersen PK, Olsson LM. Recent advances in the genetics of autoimmune disease. Annu Rev Immunol 2009;27:363-91.
46. Gourh P, Tan FK, Assassi S et al. Association of the PTPN22 R620W polymorphism with anti-topoisomerase Iand anticentromere antibody-positive systemic sclerosis. Arthritis Rheum 2006;54:3945-53.
47. Dieudé P, Guedj M, Wipff J 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 2006;54:3945-53.
48. Kozyrev SV, Abelson AK, Wojcik J et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 20 40:211-16.
49. Dieudé P, Wipff J, Guedj M et al. BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis having additive effects with IRF5 and STAT4. Arthritis Rheum 2009;60:3447-54.
50. Matsushita T, Hasegawa., M., Yanaba K, Kodera M, Takehara K, Sato S. Elevated serum BAFF levels in patients with systemic sclerosis: enhanced BAFF signaling in systemic sclerosis B lymphocytes. Arthritis Rheum 2006;54:192-201.
51. Orozco G, Abelson AK, Gonzá lez-Gay MA et al. Study of functional variants of the BANK1 gene in rheumatoid arthritis. Arthritis Rheum 2009;60:372-9.
52. Agarwal SK, Tan FK, Arnett FC. Genetics and genomic studies in scleroderma (systemic sclerosis). Rheum Dis Clin North Am 2008;34:17-40.
53. Fonseca C, Lindahl GE, Ponticos M et al. A polymorphism in the CTGF promoter region associated with systemic sclerosis. N Engl J Med 2007;357:1210-20.
54. Gourh P, Mayes MD, Arnett FC. CTGF polymorphism associated with systemic sclerosis. N Engl J Med 2008; 358:308-9.
55. Rueda B, Simeon C, Hesselstrand R et al. A large multicenter analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype. Ann Rheum Dis 2009;68:1618-20.
56. Kawaguchi Y, Ota Y, Kawamoto M et al. Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population. Ann Rheum Dis. Advance Access published December 3, 2008, doi: 10.1136/ard.2008.100586.
57. Hewagama A, Richardson B. The genetics and epigenetics of autoimmune diseases. J Autoimmun 2009; 33:3-11.