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Page 1
An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis.
Bossini-Castillo L, Campillo-Davó D, López-Isac E, Carmona FD, Simeon CP, Carreira P, Callejas-Rubio JL, Castellví I, Fernández-Nebro A, Rodríguez-Rodríguez L, Rubio-Rivas M, García-Hernández FJ, Madroñero AB, Beretta L, Santaniello A, Lunardi C, Airó P, Hoffmann-Vold AM, Kreuter A, Riemekasten G, Witte T, Hunzelmann N, Vonk MC, Voskuyl AE, de Vries-Bouwstra J, Shiels P, Herrick A, Worthington J, Radstake TRDJ, Martin J; Spanish Scleroderma Group. Bossini-Castillo L, et al. J Rheumatol. 2017 Oct;44(10):1453-1457. doi: 10.3899/jrheum.161369. Epub 2017 Jul 1. J Rheumatol. 2017. PMID: 28668810 Free article.
BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians.
Rueda B, Gourh P, Broen J, Agarwal SK, Simeon C, Ortego-Centeno N, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, Garcia-Hernandez FJ, Carreira P, Camps M, Fernandez-Nebro A, Garcia de la Peña P, Nearney T, Hilda D, Gónzalez-Gay MA, Airo P, Beretta L, Scorza R, Radstake TR, Mayes MD, Arnett FC, Martin J. Rueda B, et al. Ann Rheum Dis. 2010 Apr;69(4):700-5. doi: 10.1136/ard.2009.118174. Epub 2009 Oct 8. Ann Rheum Dis. 2010. PMID: 19815934 Free PMC article.
Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.
Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, Agarwal S, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, García-Hernandez FJ, Carreira P, Camps MT, Fernandez-Nebro A, de la Peña PG, Nearney T, Hilda D, González-Gay MA, Airo P, Beretta L, Scorza R, Herrick A, Worthington J, Pros A, Gómez-Gracia I, Trapiella L, Espinosa G, Castellvi I, Witte T, de Keyser F, Vanthuyne M, Mayes MD, Radstake TR, Arnett FC, Martin J, Rueda B. Diaz-Gallo LM, et al. Ann Rheum Dis. 2011 Mar;70(3):454-62. doi: 10.1136/ard.2010.130138. Epub 2010 Dec 3. Ann Rheum Dis. 2011. PMID: 21131644 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. 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
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. 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 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. Rheumatology (Oxford). 2011 Nov;50(11):1976-81. doi: 10.1093/rheumatology/ker259. Epub 2011 Aug 28. Rheumatology (Oxford). 2011. PMID: 21875883
A rare polymorphism in the gene for Toll-like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators.
Broen JC, Bossini-Castillo L, van Bon L, Vonk MC, Knaapen H, Beretta L, Rueda B, Hesselstrand R, Herrick A, Worthington J, Hunzelman N, Denton CP, Fonseca C, Riemekasten G, Kiener HP, Scorza R, Simeón CP, Ortego-Centeno N, Gonzalez-Gay MA, Airò P, Coenen MJ, Martín J, Radstake TR; Spanish Systemic Sclerosis Group. Broen JC, et al. Arthritis Rheum. 2012 Jan;64(1):264-71. doi: 10.1002/art.33325. Arthritis Rheum. 2012. PMID: 21905008 Free article.
No evidence for association between the CCR5/Delta32CCR5 polymorphism and systemic sclerosis.
Carmona FD, Serrano-Lopera A, López-Isac E, Simeón CP, Carreira P, Rios-Fernandez R, Espinosa G, Camps MT, Navarrete N, González-Escribano MF, Vicente-Rabaneda E, Rodríguez-Rodríguez L, Tolosa C, Beltrán E, Gómez-Garcia I, Fernández-Castro M, López-Longo FJ, García-Hernández FJ, Castellví I, Trapiella L, Fernández-Nebro A, García-Portales R, Egurbide MV, Fonollosa V, García de la Peña P, Pros A, Rodríguez-Carballeira M, Díaz-Gónzalez F, Sáez-Comet L, González-Gay MA, Martín J. Carmona FD, et al. Clin Exp Rheumatol. 2011 Sep-Oct;29(5):895-6. Epub 2011 Oct 31. Clin Exp Rheumatol. 2011. PMID: 22011385 No abstract available.
The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis.
Martin JE, Carmona FD, Broen JC, Simeón CP, Vonk MC, Carreira P, Ríos-Fernández R, Espinosa G, Vicente-Rabaneda E, Tolosa C, García-Hernández FJ, Castellví I, Fonollosa V, González-Gay MA, Sáez-Comet L, Portales RG, de la Peña PG, Fernández-Castro M, Díaz B, Martínez-Estupiñán L, Coenen M, Voskuyl AE, Schuerwegh AJ, Vanthuyne M, Houssiau F, Smith V, de Keyser F, De Langhe E, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Palm Ø, Chee MM, van Laar JM, Denton C, Herrick A, Worthington J, Koeleman BP, Radstake TR, Fonseca C, Martín J; Spanish Scleroderma Group. Martin JE, et al. Genes Immun. 2012 Feb;13(2):191-6. doi: 10.1038/gene.2011.72. Epub 2011 Oct 20. Genes Immun. 2012. PMID: 22012429
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. 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.
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