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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: shiels p. 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.
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: shiels pg. 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.
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: shiels pg. Clin Exp Rheumatol. 2015 Jul-Aug;33(4 Suppl 91):S31-5. Epub 2015 Aug 27. Clin Exp Rheumatol. 2015. PMID: 26314374
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: shiels p. 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: shiels p. 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.
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.
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: shiels pg. 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.
Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility.
Diaz-Gallo LM, Simeon CP, Broen JC, Ortego-Centeno N, Beretta L, Vonk MC, Carreira PE, Vargas S, Román-Ivorra JA, González-Gay MA, Tolosa C, López-Longo FJ, Espinosa G, Vicente EF, Hesselstrand R, Riemekasten G, Witte T, Distler JH, Voskuyl AE, Schuerwegh AJ, Shiels PG, Nordin A, Padyukov L, Hoffmann-Vold AM, Scorza R, Lunardi C, Airo P, van Laar JM, Hunzelmann N, Gathof BS, Kreuter A, Herrick A, Worthington J, Denton CP, Zhou X, Arnett FC, Fonseca C, Koeleman BP, Assasi S, Radstake TR, Mayes MD, Martín J; Spanish Scleroderma Group. Diaz-Gallo LM, et al. Among authors: shiels pg. Ann Rheum Dis. 2013 Jul;72(7):1233-8. doi: 10.1136/annrheumdis-2012-202357. Epub 2012 Nov 21. Ann Rheum Dis. 2013. PMID: 23172754 Free PMC article.
A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility.
López-Isac E, Bossini-Castillo L, Simeon CP, Egurbide MV, Alegre-Sancho JJ, Callejas JL, Roman-Ivorra JA, Freire M, Beretta L, Santaniello A, Airó P, Lunardi C, Hunzelmann N, Riemekasten G, Witte T, Kreuter A, Distler JH, Schuerwegh AJ, Vonk MC, Voskuyl AE, Shiels PG, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Assassi S, Koeleman BP, Mayes MD, Radstake TR, Martin J; Spanish Scleroderma Group. López-Isac E, et al. Among authors: shiels pg. Arthritis Res Ther. 2014 Jan 9;16(1):R6. doi: 10.1186/ar4432. Arthritis Res Ther. 2014. PMID: 24401602 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: shiels p. 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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