TRAF3IP2 gene and systemic lupus erythematosus: A ssociation with disease susceptibility and pericarditis development

Immunogenetics

Volumn 65, Issue 10, 2013, Pages 703-709

  Perricone, Carlo ^a   Ciccacci, Cinzia ^b,c   Ceccarelli, Fulvia ^a   Di Fusco, Davide ^b   Spinelli, Francesca Romana ^a   Cipriano, Enrica ^a   Novelli, Giuseppe ^b   Valesini, Guido ^a   Conti, Fabrizio ^a   Borgiani, Paola ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Act1; Antibodies; Pericarditis; Polymorphisms; Systemic lupus erythematosus; TRAF3IP2 gene

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; TRAF3IP2 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GENOTYPING TECHNIQUE; HAPLOTYPE; HUMAN; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; PERICARDITIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; ITALY; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; PERICARDITIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PEPTIDES AND PROTEINS; YOUNG ADULT;

EID: 84884902381     PISSN: 00937711     EISSN: 14321211     Source Type: Journal    
DOI: 10.1007/s00251-013-0717-6     Document Type: Article

References (30)

1. Cárdenas-Roldán J, Rojas-Villarraga A, Anaya JM (2013) How do autoimmune diseases cluster in families? A systematic review and meta-analysis. BMC Med 11:73
2. Cervera R, Abarca-Costalago M, Abramovicz D et al (2006) European Working Party on Systemic Lupus Erythematosus. Systemic lupus erythematosus in Europe at the change of the millennium: lessons from the "Euro-Lupus Project". Autoimmun Rev 5:180-6 (Pubitemid 43234182)
3. Ciccacci C, Biancone L, Di Fusco D et al (2013) TRAF3IP2 Gene is associated with cutaneous extraintestinal manifestations in inflammatory bowel disease. J Crohns Colitis 7:44-52
4. Crow MK (2008) Collaboration, genetic associations, and lupus erythematosus. N Engl J Med 358:956-61 (Pubitemid 351397097)
5. D'Cruz DP, Khamashta MA, Hughes GR (2007) Systemic lupus erythematosus. Lancet 369:587-96 (Pubitemid 46241445)
6. Excoffier L, Lischer HE (2010) Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour 10(3):564-7
7. Gateva V, Sandling JK, Hom G et al (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 41:1228-33
8. Gatto M, Zen M, Ghirardello A, Bettio S, Bassi N, Iaccarino L, Punzi L, Doria A (2013) Emerging and critical issues in the pathogenesis of lupus. Autoimmun Rev 12:523-36
9. Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2, Strange A, Capon F et al (2010) A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 42:985-90
10. Giltiay NV, Lu Y, Allman D, Jørgensen TN, Li X (2010) The adaptor molecule Act1 regulates BAFF responsiveness and self-reactive B cell selection during transitional B cell maturation. J Immunol 185:99-109
11. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40:1725
12. Hoffman IE, Peene I, Meheus L et al (2004) Specific antinuclear antibodies are associated with clinical features in systemic lupus erythematosus. Ann Rheum Dis 63:1155-8 (Pubitemid 39120371)
13. Hüffmeier U, Uebe S, Ekici AB et al (2010) Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet 42:996-9
14. Hunter CA (2007) Act1-ivating IL-17 inflammation. Nat Immunol 8:232-4 (Pubitemid 46745371)
15. International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley JB, Alarcón-Riquelme ME et al (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 40:204-10 (Pubitemid 351171405)
16. Li X (2008) Act1 modulates autoimmunity through its dual functions in CD40L/BAFF and IL-17 signaling. Cytokine 41:105-13 (Pubitemid 351192331)
17. Liu C, Qian W, Qian Y et al (2009) Act1, a U-box E3 ubiquitin ligase for IL-17 signaling. Sci Signal 2:ra63
18. Maddur MS, Miossec P, Kaveri SV, Bayry J (2012) Th17 cells: biology, pathogenesis of autoimmune and inflammatory diseases, and therapeutic strategies. Am J Pathol 181:8-18
19. May MJ (2011) IL-17R signaling: new players get in on the Act1. Nat Immunol 12:813-5
20. Miyakis S, Lockshin MD, Atsumi T et al (2006) International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 4:295-306
21. Musone SL, Taylor KE, Nititham J et al (2011) Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases. Genes Immun 12:176-82
22. Namjou B, Choi CB, Harley IT et al (2012) Evaluation of TRAF6 in a large multiancestral lupus cohort. Arthritis Rheum 64:1960-9
23. Perricone C, Ceccarelli F, Valesini G (2011) An overview on the genetic of rheumatoid arthritis: a never-ending story. Autoimmun Rev 10:599-608
24. Pisitkun P, Claudio E, Ren N, Wang H, Siebenlist U (2010) The adaptor protein CIKS/ACT1 is necessary for collagen-induced arthritis, and it contributes to the production of collagen-specific antibody. Arthritis Rheum 62:3334-44
25. Qian Y, Giltiay N, Xiao J et al (2008) Deficiency of Act1, a critical modulator of B cell function, leads to development of Sjögren's syndrome. Eur J Immunol 38:2219-28
26. Rodgers JM, Zhou L, Miller SD (2010) Act1, scene brain: astrocytes play a lead role. Immunity 32:302-4
27. Ruiz-Irastorza G, Khamashta MA, Castellino G, Hughes GR (2001) Systemic lupus erythematosus. Lancet 357:1027-32 (Pubitemid 32285401)
28. Selmi C, Leung PS, Sherr DH, Diaz M, Nyland JF, Monestier M, Rose NR, Gershwin ME (2012) Mechanisms of environmental influence on human autoimmunity: a National Institute of Environmental Health Sciences expert panel workshop. J Autoimmun 39:272-84
29. Shapira Y, Agmon-Levin N, Shoenfeld Y (2010) Geoepidemiology of autoimmune rheumatic diseases. Nat Rev Rheumatol 6:468-76
30. Tsokos GC (2011) Systemic lupus erythematosus. N Engl J Med 365:110-21