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Page 1
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group; Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Radstake TR, et al. Among authors: koeleman bp. Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565. Epub 2010 Apr 11. Nat Genet. 2010. PMID: 20383147 Free PMC article.
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: koeleman bp. 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.
Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.
Mayes MD, Bossini-Castillo L, Gorlova O, Martin JE, Zhou X, Chen WV, Assassi S, Ying J, Tan FK, Arnett FC, Reveille JD, Guerra S, Teruel M, Carmona FD, Gregersen PK, Lee AT, López-Isac E, Ochoa E, Carreira P, Simeón CP, Castellví I, González-Gay MÁ; Spanish Scleroderma Group; Zhernakova A, Padyukov L, Alarcón-Riquelme M, Wijmenga C, Brown M, Beretta L, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Voskuyl AE, Schuerwegh AJ, Hesselstrand R, Nordin A, Airó P, Lunardi C, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Wigley FM, Hummers LK, Varga J, Hinchcliff ME, Baron M, Hudson M, Pope JE, Furst DE, Khanna D, Phillips K, Schiopu E, Segal BM, Molitor JA, Silver RM, Steen VD, Simms RW, Lafyatis RA, Fessler BJ, Frech TM, Alkassab F, Docherty P, Kaminska E, Khalidi N, Jones HN, Markland J, Robinson D, Broen J, Radstake TR, Fonseca C, Koeleman BP, Martin J. Mayes MD, et al. Among authors: koeleman bp. Am J Hum Genet. 2014 Jan 2;94(1):47-61. doi: 10.1016/j.ajhg.2013.12.002. Am J Hum Genet. 2014. PMID: 24387989 Free PMC article.
Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis.
Ochoa E, Martin JE, Assasi S, Beretta L, Carreira P, Guillén A, Simeón CP, Koumakis E, Dieude P, Allanore Y, García-Hernández FJ, Espinosa G, Castellví I, Trapiella JL, Rodriguez L, González-Gay MÁ, Egurbide MV, Sáez L, Callejas-Rubio JL, Vargas-Hitos JA, Hunzelmann N, Riemekasten G, Witte T, Distler JH, Kreuter A, Lunardi C, Santaniello A, Tan FK, Shiels PG, Herrick A, Worthington J, Vonk MC, Koeleman BP, Radstake TR, Mayes MD, Martin J; Spanish Scleroderma Group. Ochoa E, et al. Among authors: koeleman bp. Clin Exp Rheumatol. 2015 Jul-Aug;33(4 Suppl 91):S31-5. Epub 2015 Aug 27. Clin Exp Rheumatol. 2015. PMID: 26314374
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: koeleman bp. 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: koeleman bp. 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.
Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies.
López-Isac E, Martín JE, Assassi S, Simeón CP, Carreira P, Ortego-Centeno N, Freire M, Beltrán E, Narváez J, Alegre-Sancho JJ; Spanish Scleroderma Group; Fernández-Gutiérrez B, Balsa A, Ortiz AM, González-Gay MA, Beretta L, Santaniello A, Bellocchi C, Lunardi C, Moroncini G, Gabrielli A, Witte T, Hunzelmann N, Distler JH, Riekemasten G, van der Helm-van Mil AH, de Vries-Bouwstra J, Magro-Checa C, Voskuyl AE, Vonk MC, Molberg Ø, Merriman T, Hesselstrand R, Nordin A, Padyukov L, Herrick A, Eyre S, Koeleman BP, Denton CP, Fonseca C, Radstake TR, Worthington J, Mayes MD, Martín J. López-Isac E, et al. Among authors: koeleman bp. Arthritis Rheumatol. 2016 Sep;68(9):2338-44. doi: 10.1002/art.39730. Arthritis Rheumatol. 2016. PMID: 27111665 Free PMC article.
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
Acosta-Herrera M, Kerick M, González-Serna D; Myositis Genetics Consortium; Scleroderma Genetics Consortium; Wijmenga C, Franke A, Gregersen PK, Padyukov L, Worthington J, Vyse TJ, Alarcón-Riquelme ME, Mayes MD, Martin J. Acosta-Herrera M, et al. Ann Rheum Dis. 2019 Mar;78(3):311-319. doi: 10.1136/annrheumdis-2018-214127. Epub 2018 Dec 20. Ann Rheum Dis. 2019. PMID: 30573655 Free PMC article.
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
López-Isac E, Acosta-Herrera M, Kerick M, Assassi S, Satpathy AT, Granja J, Mumbach MR, Beretta L, Simeón CP, Carreira P, Ortego-Centeno N, Castellvi I, Bossini-Castillo L, Carmona FD, Orozco G, Hunzelmann N, Distler JHW, Franke A, Lunardi C, Moroncini G, Gabrielli A, de Vries-Bouwstra J, Wijmenga C, Koeleman BPC, Nordin A, Padyukov L, Hoffmann-Vold AM, Lie B; European Scleroderma Group†; Proudman S, Stevens W, Nikpour M; Australian Scleroderma Interest Group (ASIG); Vyse T, Herrick AL, Worthington J, Denton CP, Allanore Y, Brown MA, Radstake TRDJ, Fonseca C, Chang HY, Mayes MD, Martin J. López-Isac E, et al. Nat Commun. 2019 Oct 31;10(1):4955. doi: 10.1038/s41467-019-12760-y. Nat Commun. 2019. PMID: 31672989 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: koeleman bp. 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
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