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Page 1
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, Diaz-Gallo LM, Broen JC, Vonk MC, Simeon CP, Alizadeh BZ, Coenen MJ, Voskuyl AE, Schuerwegh AJ, van Riel PL, Vanthuyne M, van 't Slot R, Italiaander A, Ophoff RA, Hunzelmann N, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, González-Escribano MF, Airo P, van Laar J, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels PG, Westhovens R, Kreuter A, de Baere E, Witte T, Padyukov L, Nordin A, Scorza R, Lunardi C, Lie BA, Hoffmann-Vold AM, Palm O, García de la Peña P, Carreira P; Spanish Scleroderma Group; Varga J, Hinchcliff M, Lee AT, Gourh P, Amos CI, Wigley FM, Hummers LK, Nelson JL, Riemekasten G, Herrick A, Beretta L, Fonseca C, Denton CP, Gregersen PK, Agarwal S, Assassi S, Tan FK, Arnett FC, Radstake TR, Mayes MD, Martin J. Gorlova O, et al. Among authors: scorza r. PLoS Genet. 2011 Jul;7(7):e1002178. doi: 10.1371/journal.pgen.1002178. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779181 Free PMC article.
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
Martin JE, Broen JC, Carmona FD, Teruel M, Simeon CP, Vonk MC, van 't Slot R, Rodriguez-Rodriguez L, Vicente E, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, de la Peña PG, Carreira P; Spanish Scleroderma Group; Voskuyl AE, Schuerwegh AJ, van Riel PL, Kreuter A, Witte T, Riemekasten G, Airo P, Scorza R, Lunardi C, Hunzelmann N, Distler JH, Beretta L, van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Tan FK, Arnett FC, Assassi S, Fonseca C, Mayes MD, Radstake TR, Koeleman BP, Martin J. Martin JE, et al. Among authors: scorza r. Hum Mol Genet. 2012 Jun 15;21(12):2825-35. doi: 10.1093/hmg/dds099. Epub 2012 Mar 9. Hum Mol Genet. 2012. PMID: 22407130 Free PMC article.
The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.
Carmona FD, Martin JE, Beretta L, Simeón CP, Carreira PE, Callejas JL, Fernández-Castro M, Sáez-Comet L, Beltrán E, Camps MT, Egurbide MV; Spanish Scleroderma Group; Airó P, Scorza R, Lunardi C, Hunzelmann N, Riemekasten G, Witte T, Kreuter A, Distler JH, Madhok R, Shiels P, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Schuerwegh AJ, Vonk MC, Voskuyl AE, Radstake TR, Martín J. Carmona FD, et al. Among authors: scorza r. PLoS One. 2013;8(1):e54419. doi: 10.1371/journal.pone.0054419. Epub 2013 Jan 23. PLoS One. 2013. PMID: 23372721 Free PMC article.
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
Martin JE, Assassi S, Diaz-Gallo LM, Broen JC, Simeon CP, Castellvi I, Vicente-Rabaneda E, Fonollosa V, Ortego-Centeno N, González-Gay MA, Espinosa G, Carreira P; Spanish Scleroderma Group; SLEGEN consortium; U.S. Scleroderma GWAS group; BIOLUPUS; Camps M, Sabio JM, D'alfonso S, Vonk MC, Voskuyl AE, Schuerwegh AJ, Kreuter A, Witte T, Riemekasten G, Hunzelmann N, Airo P, Beretta L, Scorza R, Lunardi C, Van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Fonseca C, Tan FK, Arnett F, Zhou X, Reveille JD, Gorlova O, Koeleman BP, Radstake TR, Vyse T, Mayes MD, Alarcón-Riquelme ME, Martin J. Martin JE, et al. Among authors: scorza r. Hum Mol Genet. 2013 Oct 1;22(19):4021-9. doi: 10.1093/hmg/ddt248. Epub 2013 Jun 4. Hum Mol Genet. 2013. PMID: 23740937 Free PMC article.
A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort.
Bossini-Castillo L, Broen JC, Simeon CP, Beretta L, Vonk MC, Ortego-Centeno N, Espinosa G, Carreira P, Camps MT, Navarrete N, González-Escribano MF, Vicente-Rabaneda E, Rodríguez L, Tolosa C, Román-Ivorra JA, Gómez-Gracia I, García-Hernández FJ, Castellví I, Gallego M, Fernández-Nebro A, García-Portales R, Egurbide MV, Fonollosa V, de la Peña PG, Pros A, González-Gay MA, Hesselstrand R, Riemekasten G, Witte T, Coenen MJ, Koeleman BP, Houssiau F, Smith V, de Keyser F, Westhovens R, De Langhe E, Voskuyl AE, Schuerwegh AJ, Chee MM, Madhok R, Shiels P, Fonseca C, Denton C, Claes K, Padykov L, Nordin A, Palm O, Lie BA, Airó P, Scorza R, van Laar JM, Hunzelmann N, Kreuter A, Herrick A, Worthington J, Radstake TR, Martín J, Rueda B. Bossini-Castillo L, et al. Among authors: scorza r. Ann Rheum Dis. 2011 Apr;70(4):638-41. doi: 10.1136/ard.2010.141838. Epub 2010 Dec 27. Ann Rheum Dis. 2011. PMID: 21187296
Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis.
Carmona FD, Simeon CP, Beretta L, Carreira P, Vonk MC, Ríos-Fernández R, Espinosa G, Navarrete N, Vicente-Rabaneda E, Rodríguez-Rodríguez L, Tolosa C, García-Hernández FJ, Castellví I, Egurbide MV, Fonollosa V, González-Gay MA, Rodríguez-Carballeira M, Díaz-Gónzalez F, Sáez-Comet L, Hesselstrand R, Riemekasten G, Witte T, Voskuyl AE, Schuerwegh AJ, Madhok R, Shiels P, Fonseca C, Denton C, Nordin A, Palm Ø, Hoffmann-Vold AM, Airó P, Scorza R, Lunardi C, van Laar JM, Hunzelmann N, Kreuter A, Herrick A, Worthington J, Koeleman BP, Radstake TR, Martín J. Carmona FD, et al. Among authors: scorza r. Ann Rheum Dis. 2011 Nov;70(11):2050-2. doi: 10.1136/ard.2010.148874. Epub 2011 May 13. Ann Rheum Dis. 2011. PMID: 21571730 No abstract available.
Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.
Bossini-Castillo L, Simeon CP, Beretta L, Vonk MC, Callejas-Rubio JL, Espinosa G, Carreira P, Camps MT, Rodríguez-Rodríguez L, Rodríguez-Carballeira M, García-Hernández FJ, López-Longo FJ, Hernández-Hernández V, Sáez-Comet L, Egurbide MV, Hesselstrand R, Nordin A, Hoffmann-Vold AM, Vanthuyne M, Smith V, De Langhe E, Kreuter A, Riemekasten G, Witte T, Hunzelmann N, Voskuyl AE, Schuerwegh AJ, Lunardi C, Airó P, Scorza R, Shiels P, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Koeleman BP, Rueda B, Radstake TR, Martin J; Spanish Scleroderma Group. Bossini-Castillo L, et al. Among authors: scorza r. Rheumatology (Oxford). 2011 Nov;50(11):1976-81. doi: 10.1093/rheumatology/ker259. Epub 2011 Aug 28. Rheumatology (Oxford). 2011. PMID: 21875883
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.
Bossini-Castillo L, Martin JE, Broen J, Gorlova O, Simeón CP, Beretta L, Vonk MC, Callejas JL, Castellví I, Carreira P, García-Hernández FJ, Fernández Castro M; Spanish Scleroderma Group; Coenen MJ, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Koeleman BP, Voskuyl AE, Schuerwegh AJ, Palm Ø, Hesselstrand R, Nordin A, Airó P, Lunardi C, Scorza R, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Tan FK, Arnett FC, Agarwal SK, Assassi S, Fonseca C, Mayes MD, Radstake TR, Martin J. Bossini-Castillo L, et al. Among authors: scorza r. Hum Mol Genet. 2012 Feb 15;21(4):926-33. doi: 10.1093/hmg/ddr522. Epub 2011 Nov 10. Hum Mol Genet. 2012. PMID: 22076442 Free PMC article.
Analysis of Class II human leucocyte antigens in Italian and Spanish systemic sclerosis.
Beretta L, Rueda B, Marchini M, Santaniello A, Simeón CP, Fonollosa V, Caronni M, Rios-Fernandez R, Carreira P, Rodriguez-Rodriguez L; Spanish Systemic Sclerosis Group; Moreno A, López-Nevot MA, Escalera A, González-Escribano MF, Martin J, Scorza R. Beretta L, et al. Among authors: scorza r. Rheumatology (Oxford). 2012 Jan;51(1):52-9. doi: 10.1093/rheumatology/ker335. Epub 2011 Nov 15. Rheumatology (Oxford). 2012. PMID: 22087014 Free PMC article.
Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study.
Bossini-Castillo L, Martin JE, Broen J, Simeon CP, Beretta L, Gorlova OY, Vonk MC, Ortego-Centeno N, Espinosa G, Carreira P, García de la Peña P, Oreiro N, Román-Ivorra JA, Castillo MJ, González-Gay MA, Sáez-Comet L, Castellví I, Schuerwegh AJ, Voskuyl AE, Hoffmann-Vold AM, Hesselstrand R, Nordin A, Lunardi C, Scorza R, van Laar JM, Shiels PG, Herrick A, Worthington J, Fonseca C, Denton C, Tan FK, Arnett FC, Assassi S, Koeleman BP, Mayes MD, Radstake TR, Martin J; Spanish Scleroderma Group. Bossini-Castillo L, et al. Among authors: scorza r. Ann Rheum Dis. 2013 Apr;72(4):602-7. doi: 10.1136/annrheumdis-2012-201888. Epub 2012 Aug 15. Ann Rheum Dis. 2013. PMID: 22896740 Free PMC article.
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