The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

  Carmona, F David ^a   Martin, Jose Ezequiel ^a   Beretta, Lorenzo ^b   Simeón, Carmen P ^c   Carreira, Patricia E ^d   Callejas, José Luis ^e   Fernández Castro, Mónica ^f   Sáez Comet, Luis ^g   Beltrán, Emma ^h   Camps, María Teresa ⁱ   Egurbide, María Victoria ^j   Airó, Paolo ^k   Scorza, Raffaella ^b   Lunardi, Claudio ^l   Hunzelmann, Nicolas ^m   Riemekasten, Gabriela ⁿ   Witte, Torsten ^o   Kreuter, Alexander ^p   Distler, Jörg H W ^q   Madhok, Rajan ^r   Shiels, Paul ^r   van Laar, Jacob M ^s   Fonseca, Carmen ^t   Denton, Christopher ^t   Herrick, Ariane ^u   Worthington, Jane ^u   Schuerwegh, Annemie J ^v   Vonk, Madelon C ^w   Voskuyl, Alexandre E ^x   Radstake, Timothy R D J ^w,y   Martín, Javier ^a   more..

^a INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

^b UNIVERSITY OF MILAN   (Italy)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^f HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^g HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^h HOSPITAL GENERAL UNIVERSITARIO DE VALENCIA   (Spain)

ⁱ HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^j HOSPITAL DE CRUCES   (Spain)

^k SPEDALI CIVILI   (Italy)

^l UNIVERSITY OF VERONA   (Italy)

^m UNIVERSITY OF COLOGNE   (Germany)

ⁿ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^o HANNOVER MEDICAL SCHOOL   (Germany)

^p RUHR UNIVERSITY BOCHUM   (Germany)

^q UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^r UNIVERSITY OF GLASGOW   (United Kingdom)

^s NEWCASTLE UNIVERSITY   (United Kingdom)

^t ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^u UNIVERSITY OF MANCHESTER   (United Kingdom)

^v LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^w RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^x VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^y UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON REGULATORY FACTOR 5; LEUKOCYTE ANTIGEN;

ARTICLE; CAUCASIAN; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC VARIABILITY; GENOTYPE; GERMANY; HAPLOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; PHENOTYPE; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC SCLEROSIS; UNITED KINGDOM;

ALLELES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; LINKAGE DISEQUILIBRIUM; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SCLERODERMA, SYSTEMIC;

EID: 84872779755     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0054419     Document Type: Article

References (25)

1. Agarwal SK, Reveille JD, (2010) The genetics of scleroderma (systemic sclerosis). Curr Opin Rheumatol 22: 133-138.
2. Martin JE, Bossini-Castillo L, Martin J, (2012) Unraveling the genetic component of systemic sclerosis. Hum Genet 131: 1023-1037.
3. Higgs BW, Liu Z, White B, Zhu W, White WI, et al. (2011) Patients with systemic lupus erythematosus, myositis, rheumatoid arthritis and scleroderma share activation of a common type I interferon pathway. Ann Rheum Dis 70: 2029-2036.
4. Sozzani S, Bosisio D, Scarsi M, Tincani A, (2010) Type I interferons in systemic autoimmunity. Autoimmunity 43: 196-203.
5. Assassi S, Mayes MD, Arnett FC, Gourh P, Agarwal SK, et al. (2010) Systemic sclerosis and lupus: points in an interferon-mediated continuum. Arthritis Rheum 62: 589-598.
6. Milano A, Pendergrass SA, Sargent JL, George LK, McCalmont TH, et al. (2008) Molecular subsets in the gene expression signatures of scleroderma skin. PLoS One 3: e2696.
7. Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, et al. (2006) A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet 38: 550-555.
8. Dieudé P, Guedj M, Wipff J, Avouac J, Fajardy I, et al. (2009) Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum 60: 225-233.
9. Han SW, Lee WK, Kwon KT, Lee BK, Nam EJ, et al. (2009) Association of polymorphisms in interferon regulatory factor 5 gene with rheumatoid arthritis: a metaanalysis. J Rheumatol 36: 693-697.
10. Miceli-Richard C, Comets E, Loiseau P, Puechal X, Hachulla E, et al. (2007) Association of an IRF5 gene functional polymorphism with Sjögren's syndrome. Arthritis Rheum 56: 3989-3994.
11. Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, et al. (2007) Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A 104: 6758-6763.
12. Dieudé P, Dawidowicz K, Guedj M, Legrain Y, Wipff J, et al. (2010) Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity. J Rheumatol 37: 987-992.
13. Sharif R, Mayes MD, Tan FK, Gorlova OY, Hummers LK, et al. (2012) IRF5 polymorphism predicts prognosis in patients with systemic sclerosis. Ann Rheum Dis 71: 1197-1202.
14. Martin JE, Broen JC, Carmona FD, Teruel M, Simeon CP, et al. (2012) Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up. Hum Mol Genet 21: 2825-2835.
15. LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, et al. (1988) Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 15: 202-205.
16. Skol AD, Scott LJ, Abecasis GR, Boehnke M, (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38: 209-213.
17. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
18. Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
19. Allanore Y, Saad M, Dieude P, Avouac J, Distler JH, et al. (2011) Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet 7: e1002091.
20. Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, et al. (2010) Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet 42: 426-429.
21. Niewold TB, Kelly JA, Kariuki SN, Franek BS, Kumar AA, et al. (2012) IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann Rheum Dis 71: 463-468.
22. Niewold TB, Kelly JA, Flesch MH, Espinoza LR, Harley JB, et al. (2008) Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients. Arthritis Rheum 58: 2481-2487.
23. Kozyrev SV, Alarcon-Riquelme ME, (2007) The genetics and biology of Irf5-mediated signaling in lupus. Autoimmunity 40: 591-601.
24. Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, et al. (2011) Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. PLoS Genet 7: e1002178.
25. Gabrielli A, Avvedimento EV, Krieg T, (2009) Scleroderma. N Engl J Med 360: 1989-2003.