Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population

Annals of the Rheumatic Diseases

Volumn 69, Issue 11, 2010, Pages 1958-1964

  Dieude P ^a   Guedj, M ^b   Wipff, J ^a   Ruiz, B ^a   Riemekasten, G ^c   Matucci Cerinic, M ^d   Melchers, I ^e   Hachulla, E ^f   Airo, P ^g   Diot, E ^h   Hunzelmann, N ⁱ   Cabane, J ^j   Mouthon, L ^a   Cracowski, J L ^k   Riccieri, V ^l   Distler, J ^m   Meyer, O ^a   Kahan, A ^a   Boileau, C ^a,n   Allanore, Yannick ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d Department of Biomedicine   (Italy)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIV LILLE   (France)

^g Rheumatology and Immunology Unit   (Italy)

^h CHU BRETONNEAU   (France)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j HÔPITAL SAINT ANTOINE   (France)

^k GRENOBLE UNIVERSITY HOSPITAL   (France)

^l SAPIENZA UNIVERSITY OF ROME   (Italy)

^m UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TNFAIP 3; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; NUCLEAR PROTEIN; SIGNAL PEPTIDE; TNFAIP3 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CAUCASIAN; FEMALE; GENETIC VARIABILITY; GERMANY; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC SCLEROSIS; AUTOIMMUNE DISEASE; CASE CONTROL STUDY; CLINICAL TRIAL; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; MULTICENTER STUDY;

ADULT; AGED; AUTOIMMUNE DISEASES; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCLERODERMA, SYSTEMIC;

EID: 77958055758     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/ard.2009.127928     Document Type: Article

References (30)

1. Allanore Y, Wipff J, Kahan A, et al. Genetic basis for systemic sclerosis. Joint Bone Spine 2007;74:577-83.
2. 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.
3. 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.
4. 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.
5. 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.
6. Dieudé P, Wipff J, Guedj M, 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.
7. Rueda B, Gourh P, Broen J, et al. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. Ann Rheum Dis 2010;69:700-5.
8. Gourh P, Arnett FC, Tan FK, et al. Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis. Ann Rheum Dis 2010;69:550-5.
9. Allanore Y, Dieude P, Boileau C. Genetic background of systemic sclerosis: autoimmune genes take centre stage. Rheumatology (Oxford) 2010;49:203-10.
10. Musone SL, Taylor KE, Lu TT, et al. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 2008;40:1062-4.
11. Graham RR, Cotsapas C, Davies L, et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008;40:1059-61.
12. Bates JS, Lessard CJ, Leon JM, et al. Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations. Genes Immun 2009;10:470-7.
13. Prahalad S, Hansen S, Whiting A, et al. Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis. Arthritis Rheum 2009;60:2124-30.
14. Coenen MJ, Trynka G, Heskamp S, et al. Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum Mol Genet 2009;18:4195-203.
15. Vereecke L, Beyaert R, van Loo G. The ubiquitin-editing enzyme A20 (TNFAIP3) is a central regulator of immunopathology. Trends Immunol 2009;30:383-91.
16. Lee EG, Boone DL, Chai S, et al. Failure to regulate TNF-induced NF-kappaB and cell death responses in A20-deficient mice. Science 2000;289:2350-4.
17. Hunzelmann N, Moinzadeh P, Genth E, et al. High frequency of corticosteroid and immunosuppressive therapy in patients with systemic sclerosis despite limited evidence for efficacy. Arthritis Res Ther 2009;11:R30.
18. Hunzelmann N, Genth E, Krieg T, et al. The registry of the German Network for Systemic Scleroderma: frequency of disease subsets and patterns of organ involvement. Rheumatology (Oxford) 2008;47:1185-92.
19. LeRoy EC, Black C, Fleischmajer R, et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988;15:202-5.
20. Valentini G, Matucci Cerinic M. Disease-specific quality indicators, guidelines and outcome measures in scleroderma. Clin Exp Rheumatol 2007;25(6 Suppl 47):159-62.
21. Badesch DB, Champion HC, Sanchez MA, et al. Diagnosis and assessment of pulmonary arterial hypertension. J Am Coll Cardiol 2009;54(1 Suppl):S55-66.
22. Allanore Y, Borderie D, Avouac J, et al. High N-terminal pro-brain natriuretic peptide levels and low diffusing capacity for carbon monoxide as independent predictors of the occurrence of precapillary pulmonary arterial hypertension in patients with systemic sclerosis. Arthritis Rheum 2008;58:284-91.
23. Guedj M, Della-Chiesa E, Picard F, et al. Computing power in case-control association studies through the use of quadratic approximations: application to meta-statistics. Ann Hum Genet 2007;71:262-70. (Pubitemid 46656505)
24. Komander D, Barford D. Structure of the A20 OTU domain and mechanistic insights into deubiquitination. Biochem J 2008;409:77-85.
25. Lafyatis R, York M. Innate immunity and inflammation in systemic sclerosis. Curr Opin Rheumatol 2009;21:617-22.
26. Boone DL, Turer EE, Lee EG, et al. The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses. Nat Immunol 2004;5:1052-60.
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 systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. Ann Rheum Dis 2010;69:822-7.
28. Steen VD, Medsger TA. Changes in causes of death in systemic sclerosis, 1972-2002. Ann Rheum Dis 2007;66:940-4.
29. Allanore Y, Avouac J, Kahan A. Systemic sclerosis: an update in 2008. Joint Bone Spine 2008;75:650-5.
30. Hassoun PM, Mouthon L, Barberà JA, et al. Inflammation, growth factors, and pulmonary vascular remodeling. J Am Coll Cardiol 2009;54(1 Suppl):S10-19.