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Grupos de Investigación

Instituto de Parasitología y Biomedicina López-Neyra (IPBLN-CSIC)

Sitio web

IP: Dr. Javier Martin Ibáñez

Líneas de Investigación
  • Bases genéticas y moleculares de las enfermedades autoinmunes sistémicas: esclerodermia, artritis reumatoide, lupus eritematoso sistémico y vasculitis.Identificación de factores genéticos, epigenéticos y transcriptómicos implicados en la susceptibilidad y severidad de las enfermedades autoinmunes sistémicas.
    Análisis de nuevas vías patogénicas.
    Definición de biomarcadores de pronóstico y tratamiento.
    Estudio del componente genético común en autoinmunidad.

Miembros del equipo

  • Norberto Ortego Centeno
  • Carmen Pilar Simeon Aznar
  • Enrique Raya Álvarez
  • José Luis Callejas Rubio
  • Vicente Fonollosa Pla
  • Sofia Vargas Roldán
  • Ana Maria Márquez Ortiz
  • Lourdes Ortiz Fernández
  • Elena López Isac
  • Martin Kerick
  • Marialbert Acosta Herrera
  • David González Serna

Selección de Publicaciones recientes

A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.

Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J, Schönau V, Sailler L, Papo T, Haroche J, Mahr A, Mouthon L, Molberg Ø, Diamantopoulos AP, Voskuyl A, Brouwer E, Daikeler T, Berger CT, Molloy ES, O’Neill L, Blockmans D, Lie BA, Mclaren P, Vyse TJ, Wijmenga C, Allanore Y, Koeleman BP; Spanish CGA Group.; UKGCA Consortium.; Vasculitis Clinical Research Consortium., Barrett JH, Cid MC, Salvarani C, Merkel PA, Morgan AW, González-Gay MA, Martín J. Am J Hum Genet. 2017;100(1):64-74. FI: 10.974 (D1).

A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.

Márquez A, Vidal-Bralo L, Rodríguez-Rodríguez L, González-Gay MA, Balsa A, González-Álvaro I, Carreira P, Ortego-Centeno N, Ayala-Gutiérrez MM, García-Hernández FJ, González-Escribano MF, Sabio JM, Tolosa C, Suárez A, González A, Padyukov L, Worthington J, Vyse T, Alarcón-Riquelme ME, Martín J. Ann Rheum Dis. 2017;76(1):286–294. FI: 12.384 (D1).

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. Arthritis Rheumatol. 2016; 68(9):2338-44. FI: 8.955 (D1).

Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway.

López-Isac E, Campillo-Davo D, Bossini-Castillo L, Guerra SG, Assassi S, Simeón CP, Carreira P, Ortego-Centeno N, García de la Peña P; Spanish Scleroderma Group, Beretta L, Santaniello A, Bellocchi C, Lunardi C, Moroncini G, Gabrielli A, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Voskuyl AE, de Vries-Bouwstra J, Herrick A, Worthington J, Denton CP, Fonseca C, Radstake TR, Mayes MD, Martín J. Ann Rheum Dis. 2016; 75(8):1521-1526. FI: 12.384 (D1).

A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility.

Carmona FD, Mackie SL, Martín JE, Taylor JC, Vaglio A, Eyre S, Bossini-Castillo L, Castañeda S, Cid MC, Hernández-Rodríguez J, Prieto-González S, Solans R, Ramentol-Sintas M, González-Escribano MF, Ortiz-Fernández L, Morado IC, Narváez J, Miranda-Filloy JA; Spanish GCA Group, Beretta L, Lunardi C, Cimmino MA, Gianfreda D, Santilli D, Ramirez GA, Soriano A, Muratore F, Pazzola G, Addimanda O, Wijmenga C, Witte T, Schirmer JH, Moosig F, Schönau V, Franke A, Palm Ø, Molberg Ø, Diamantopoulos AP, Carette S, Cuthbertson D, Forbess LJ, Hoffman GS, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland L, Monach PA, Pagnoux C, Seo P, Spiera R, Sreih AG, Warrington KJ, Ytterberg SR, Gregersen PK, Pease CT, Gough A, Green M, Hordon L, Jarrett S, Watts R, Levy S, Patel Y, Kamath S, Dasgupta B, Worthington J, Koeleman BP, de Bakker PI, Barrett JH, Salvarani C, Merkel PA, González-Gay MA, Morgan AW, Martin J. Am J Hum Genet. 2015; 96(4):565-80. FI: 10.974 (D1).

Immunogenetics of systemic sclerosis: Defining heritability, functional variants and shared-autoimmunity pathways.

Bossini-Castillo L, López-Isac E, Martin J. J Autoimmun. 2015; 64: 53-65. FI: 7.760 (D1).

Identification of IL12RB1 as a Novel Systemic Sclerosis Susceptibility Locus.

López-Isac E, Bossini-Castillo L, Guerra S, Assassi S, Zhou X, PilarSimeón C, Ortego-Centeno N, Castellví I, Carreira P, Gorlova O, Beretta L, Santaniello A, Lunardi C, Hesselstrand R, Nordin A, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Voskuyl AE, deVries-Bouwstra J, Koeleman BP, Herrick A, Worthington J, Denton C, Fonseca C, Radstake TR, Mayes MD, Martin J. Arthritis Rheumatol. 2014; 66(12):3521-3. FI: 7.764 (D1)

Influence of the IL17A locus in giant cell arteritis susceptibility.

Márquez A, Hernández-Rodríguez J, Cid MC, Solans R, Castañeda S, Fernández-Contreras ME, Ramentol M, Morado IC, Narváez J, Gómez-Vaquero C, Martínez-Taboada VM, Ortego-Centeno N, Sopeña B, Monfort J, García-Villanueva MJ, Caminal-Montero L, de Miguel E, Blanco R; Spanish GCA Consortium,, Palm O, Molberg O, Latus J, Braun N, Moosig F, Witte T, Beretta L, Santaniello A, Pazzola G, Boiardi L, Salvarani C, González-Gay MA, Martín J. Ann Rheum Dis. 2014; 73(9):1742-1745. FI: 10.377 (D1).

Genetics of rheumatoid arthritis contributes to biology and drug discovery.

Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale T, Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas DA, Jiang L, Yin J, Ye L, Su DF, Yang J, Xie G, Keystone E, Westra HJ, Esko T, Metspalu A, Zhou X, Gupta N, Mirel D, Stahl EA, Diogo D, Cui J, Liao K, Guo MH, Myouzen K, Kawaguchi T, Coenen MJ, van Riel PL, van de Laar MA, Guchelaar HJ, Huizinga TW, Dieudé P, Mariette X, Louis Bridges Jr S, Zhernakova A, Toes RE, Tak PP, Miceli-Richard C, Bang SY, Lee HS, Martin J, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Rantapää-Dahlqvist S, Arlestig L, Choi HK, Kamatani Y, Galan P, Lathrop M; the RACI consortium; the GARNET consortium, Eyre S, Bowes J, Barton A, de Vries N, Moreland LW, Criswell LA, Karlson EW, Taniguchi A, Yamada R, Kubo M, Liu JS, Bae SC, Worthington J, Padyukov L, Klareskog L, Gregersen PK, Raychaudhuri S, Stranger BE, De Jager PL, Franke L, Visscher PM, Brown MA, Yamanaka H, Mimori T, Takahashi A, Xu H, Behrens TW, Siminovitch KA, Momohara S, Matsuda F, Yamamoto K, Plenge RM. Nature. 2014 Feb 20; 506(7488):376-81. FI: 41.456 (D1).

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. Am J Hum Genet. 2014; 94(1):47-61. FI: 10.931 (D1).

Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis.

Serrano A, Márquez A, Mackie SL, Carmona FD, Solans R, Miranda-Filloy JA, Hernández-Rodríguez J, Cid MC, Castañeda S, Morado I, Narváez J, Blanco R, Sopeña B, García-Villanueva MJ, Monfort J, Ortego-Centeno N, Unzurrunzaga A, Marí-Alfonso B, Sánchez-Martín J, de Miguel E, Magro C, Raya E, Braun N, Latus J, Molberg O, Lie BA, Moosig F, Witte T, Morgan AW, González-Gay MA, Martin J. Ann Rheum Dis. 2013; 72(11): 1882-1886. FI: 9.270 (D1).

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre O, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d’Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2), Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA Nat Genet. 2013 Jul; 45(7):730-8. FI: 42.351 (D1).

New insight on the Xq28 association with systemic sclerosis.

Carmona FD, Cénit MC, Diaz-Gallo LM, Broen JC, Simeón CP, Carreira PE, Callejas-Rubio JL, Fonollosa V, López-Longo FJ, González-Gay MA, Hunzelmann N, Riemekasten G, Witte T, Kreuter A, Distler JH, Madhok R, Shiels P, van Laar JM, Schuerwegh AJ, Vonk MC, Voskuyl AE, Fonseca C, Denton CP, Herrick A, Worthington J, Arnett FC, Tan FK, Assassi S, Radstake TR, Mayes MD, Martin J. Ann Rheum Dis. 2013; 72(12):2032-2038. FI: 9.270 (D1).

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, Martin J. Ann Rheum Dis. 2013 Jul; 72(7):1233-8. FI: 9.270 (D1).

Evidence of association of the NLRP1 gene with giant cell arteritis.

Serrano A, Carmona FD, Castañeda S, Solans R, Hernández-Rodríguez J, Cid MC, Prieto-González S, Miranda-Filloy JA, Rodríguez-Rodríguez L, Morado IC, Gomez-Vaquero C, Blanco R, Sopeña B, Ortego-Centeno N, Unzurrunzaga A, Marí-Alfonso B, Sánchez-Martín J, García-Villanueva MJ, Hidalgo-Conde A, Pazzola G, Boiardi L, Salvarani C, González-Gay MA, Martin J. Ann Rheum Dis. 2013; 72(4):628-630. FI: 9.270 (D1).

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. Ann Rheum Dis. 2013; 72(4):602-607. FI: 9.270 (D1).

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

Eyre S, Bowes J, Diogo D, Lee A, Barton A, Martin P, Zhernakova A, Stahl E, Viatte S, McAllister K, Amos CI, Padyukov L, Toes RE, Huizinga TW, Wijmenga C, Trynka G, Franke L, Westra HJ, Alfredsson L, Hu X, Sandor C, de Bakker PI, Davila S, Khor CC, Heng KK, Andrews R, Edkins S, Hunt SE, Langford C, Symmons D; Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate; Wellcome Trust Case Control Consortium, Concannon P, Onengut-Gumuscu S, Rich SS, Deloukas P, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Arlsetig L, Martin J, Rantapää-Dahlqvist S, Plenge RM, Raychaudhuri S, Klareskog L, Gregersen PK, Worthington J. Nat Genet. 2012; 44(12):1336-1340. FI: 35.209 (D1).

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, García de la Peña P, Carreira P, Group SS, 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 Hum Mol Genet. 2012; 21(12): 2825-2835. FI: 7.692 (D1).

A GWAS follow-up study reveals the association of IL12RB2 gene with Systemic Sclerosis in Caucasian populations.

Bossini-Castillo L, Martin JE, Broen J, Gorlova O, Simeon CP, Beretta L, Vonk MC, Callejas JL, Castellví I, Carreira P, García-Hernández FJ, Castro MF; the Spanish Scleroderma Group, Coenen MJ, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Koeleman BP, Voskuyl AE, Schuerwegh AJ, Palm O, 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. Hum Mol Genet. 2012; 21(4):926-933. FI: 7.692 (D1).

Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.

Carmona FD, Gutala R, Simeón CP, Carreira P, Ortego-Centeno N, Vicente-Rabaneda E, García-Hernández FJ, García de la Peña P, Fernández-Castro M, Martínez-Estupiñán L, Egurbide MV, Tsao BP, Gourh P, Agarwal SK, Assassi S, Mayes MD, Arnett FC, Tan FK, Martin J. Ann Rheum Dis. 2012; 71(1):114-119. FI: 9.111 (D1).

Grupos de investigación

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