SUMMARY OF RESEARCH

GENETIC BASIS OF AUTOIMMUNE DISEASES

Our research line is mainly focused on the study of the genetic background underlying the so-called 'autoimmune diseases'. Such diseases are characterised by a loss of tolerance to self-antigens of the organism's own tissues as a result of an abnormal activation of T and B lymphocytes. This situation leads to a chronic and exacerbated immune response that reduces dramatically the quality of life of affected people. Although they are considered rare diseases individually, together autoimmunity processes affect approximately 5% of the population in Western countries. However, despite the high morbidity and mortality associated with autoimmune disorders due to their potentially severe and chronic nature, their causes are far from being completely understood.

In this regard, during the last decades, our research group has been trying to elucidate the genetic variants involved in the development and progression of several systemic autoimmune diseases such as scleroderma, giant cell arteritis, rheumatoid arthritis, systemic lupus erythematosus or ankylosing spondylitis, amongst others. Thanks to the effort and dedication of the pre- and post-doctoral researchers who have been working in our lab, we have contributed significantly to the current knowledge of the aetiology of these diseases. For instance, in 2010, our group published the first genome-wide association study (GWAS) in scleroderma (Radstake et al. Nat Genet. 2010, 42:426-9), which represented the basis for a series of subsequent studies that placed us as the world leading group in the investigation of the genetic basis of this fibrotic disorder (Gorlova O, et al. PLoS Genet. 2011:e1002178; Martin et al. Hum Mol Genet. 2012, 21:2825-2835; Bossini-Castillo et al. Hum Mol Genet. 2012, 21:926-933; Bossini-Castillo et al. Ann Rheum Dis. 2013, 72:602-607; Martin et al. Hum Mol Genet. 2013, 22:4021-4029; Mayes et al. Am J Hum Genet. 2014; 94:47-61; Lopez-Isac et al. Arthritis Rheumatol. 2014, 66:3521-3523). Amongst them, it should be highlighted the first Immunochip (a platform through which it can be performed a dense analysis of around 200,000 polymorphisms located within 186 known susceptibility loci for autoimmune and inflammatory disorders) conducted in this disease. The study allowed the identification of new scleroderma susceptibility genes like ATG5 (involved in autophagy), DNASE1L3 (which mediates the breakdown of DNA during apoptosis) and the gene encoding interleukin IL-12 (Mayes et al. Am J Hum Genet. 2014; 94:47-61).

Similarly, we have also contributed through collaborations with international consortia to the study of the genetics basis of rheumatoid arthritis. These collaborations have led to high impact results that have been published in prestigious journals such as Nature (Okada et al. Nature. 2014, 506:376-81) or Nature Genetics (Eyre et al. Nat Genet. 2012, 44:1336-40).

On the other hand, our research group is currently leading a fascinating multicenter project involving several European and North American countries (including Spain, Italy, UK, USA, Canada, Germany, Norway, The Netherlands, Ireland, France, Austria and Belgium). The main objective of this international effort is to conduct the first large-scale genetic studies in giant cell arteritis, a vasculitis that can present very serious complications such as blindness or stroke. This exciting collaboration has allowed us to carry out the first Immunochip on giant cell arteritis, which has been published in the American Journal of Human Genetics (Carmona et al. Am J Hum Genet. 2015, 96:565-80). In this study, we used a state-of-the-art bioinformatic methodology to perform a comprehensive analysis of the major histocompatibility complex (MHC) region at the amino acid level, which generated much public interest and discussion being released in different media:

- RTVE (http://www.rtve.es/noticias/20150529/identifican-los-factores-geneticos-riesgo-arteritis-celulas-gigantes/1153124.shtml)

- IDEAL (http://www.ideal.es/granada/201506/10/cientificos-granadinos-identifican-factores-20150610083254.html)

- CANAL SUR (http://alacarta.canalsur.es/television/video/noticias-mediodia-lunes/1835374/16)

In order to continue shedding light into the aetiology of autoimmune diseases, our next goals are 1) the use of next-generation sequencing techniques, 2) the study of the potential regulatory role on gene expression of the establishes risk variants through the analysis of cellular phenotypes and eQTLs, and 3) the integration of both approaches (genomic and expression data), with the aim to identify the functional implication of the major genetic risk factors associated with these pathologies. For this purpose, our laboratory has powerful servers that enable bioinformatic analyses with a high computational load. We believe that our studies will represent a valuable help in the development of novel diagnostic and prognostic markers for a more effective therapeutic intervention.

FUNDING AGENCIES LAST 5 YEARS

- CARACTERIZACION FUNCIONAL DE LAS REGIONES GENETICAS ASOCIADAS A LA ESCLEROSIS SISTEMICA. PROYECTO, PN2022 - PROY I+D GENERACION CONOC. - PID, Ref: PID2022-139292OB-I00, (2023 - 2027).

- Estudio de las bases moleculares de la esclerosis sistémica mediante secuenciación del transcriptoma de linfocitos T y fibroblastos a nivel de una única célula. PROYECTO, J.A.- Retos de la sociedad andaluza, Ref: P18-RT-4442, (2020 - 2023).

- Identification of the Molecular Mechanisms of non-response to Treatments, Relapses and Remission in Autoimmune, Inflammatory, and Allergic Conditions. PROYECTO, H2020-JTI-IMI2-2018-14-two-stage - H2020-JTI-IMI2-2018-14-two-stage, Ref: 831434, (2019 - 2026).

- DESCIFRANDO LAS BASES GENETICAS DE LA ESCLEROSIS SISTEMICA. PROYECTO, PN2018 - Proyectos I+D+i «Retos Investigación», Ref: RTI2018-101332-B-I00, (2019 - 2022).

- Molecular stratification of patients with giant cell arteritis to tailor glucocorticoid and tocilizumab therapy. PROYECTO, FOREUM - Research Proposals on Stratified Medicine in Rheum, Ref: INT-CH/0683, (2018 - 2023).

- Red de investigación en inflamación y enfermedades reumáticas (RIER). PROYECTO, PN2016 - REDES TEMATICAS INV. COOPERATIVA, Ref: RD16/0012/0013, (2017 - 2022).

- BASES MOLECULARES DE LA ESCLEROSIS SISTEMICA: INTEGRANDO GENOMICA Y TRANSCRIPTOMICA. PROYECTO, PN2015 - PROY I+D - S. E. G. C. - P. EXCELENCIA, Ref: SAF2015-66761-P, (2016 - 2019).

- MOLECULAR RECLASSIFICATION TO FIND CLINICALLY USEFUL BIOMARKERS FOR SYSTEMIC AUTOIMMUNE DISEASES. PROYECTO, FP7-COOPERATION JTI-IMI-JU-2013, Ref: 115565, (2014 - 2019).

PUBLICATIONS LAST 5 YEARS

-David González-Serna; Chenfu Shi,Martin Kerick; Jenny Hankinson,James Ding; Amanda McGovern; Mauro Tutino; Gonzalo Villanueva-Martin; Norberto Ortego-Centeno; José Luis Callejas; Javier Martin; Gisela Orozco, Identification of Mechanisms by Which Genetic Susceptibility Loci Influence Systemic Sclerosis Risk Using Functional Genomics in Primary T Cells and Monocytes, Arthritis and Rheumatology, 2023, Vol. 75: 1007-1020, ARTÍCULO, Id:948082

-Fernanda Genre; Diana Prieto-Peña; Verónica Pulito-Cueto; Javier Gonzalo Ocejo-Vinyals; Belén Atienza-Mateo; Alejandro Muñoz Jiménez; Francisco Ortiz-Sanjuán; Susana Romero-Yuste; Clara Moriano; Eva Galíndez-Agirregoikoa; Itziar Calvo; Norberto Ortego-Centeno; Noelia Álvarez-Rivas; José A Miranda-Filloy; Irene Llorente; Ricardo Blanco; Oreste Gualillo; Javier Martín; Santos Castañeda; Raquel López-Mejías; Sara Remuzgo-Martínez; Miguel A González-Gay, Cranial and extracranial giant cell arteritis do not exhibit differences in the IL6 -174 G/C gene polymorphism, Clinical and Experimental Rheumatology, 2023, Vol. 41: 910-915, ARTÍCULO, Id:945324

-Prieto-Peña, D.; Genre, F.; Pulito-Cueto, V.; Ocejo-Vinyals, J.G.; Atienza-Mateo, B.; Muñoz Jiménez, A.; Ortiz-Sanjuán, F.; Romero-Yuste, S.; Moriano, C.; Galindez-Agirregoikoa, E.; Calvo, I.; Ortego-Centeno, N.; Álvarez-Rivas, N.; Miranda-Filloy, J.A.; Baldivieso-Achá, J.P.; Blanco, R.; Gualillo, O.; Martín, J.; Castañeda, S.; López-Mejías, R.; Remuzgo-Martínez, S.; González-Gay, M.A., Cranial and extracranial large-vessel giant cell arteritis share a genetic pattern of interferon-gamma pathway, Clinical and Experimental Rheumatology, 2023, Vol. 41: 864-869, ARTÍCULO, Id:944302

-Martínez-López, J.; Kerick, M.; Ortiz-Fernández, L.; Acosta-Herrera, M.; Márquez, A.; Martín, J., FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis, Rheumatology, 2023, Vol. 62: SI138-SI142, ARTÍCULO, Id:941877

-Frauke Degenhardt; David Ellinghaus; Simonas Juzenas; Jon Lerga-Jaso; Mareike Wendorff; Douglas Maya-Miles; Florian Uellendahl-Werth; Hesham ElAbd; Malte C Rühlemann; Jatin Arora; Onur Özer; Ole Bernt Lenning; Ronny Myhre; May Sissel Vadla; Eike M Wacker; Lars Wienbrandt; Aaron Blandino Ortiz; Adolfo de Salazar; Adolfo Garrido Chercoles; Adriana Palom; Agustín Ruiz; Alba-Estela Garcia-Fernandez; Albert Blanco-Grau; Alberto Mantovani; Alberto Zanella; Aleksander Rygh Holten; Alena Mayer; Alessandra Bandera; Alessandro Cherubini; Alessandro Protti; Alessio Aghemo; Alessio Gerussi; Alfredo Ramirez , Alice Braun; Almut Nebel; Ana Barreira; Ana Lleo; Ana Teles; Anders Benjamin Kildal; Andrea Biondi; Javier Martin; Giuseppe Bellelli; Giuseppe Citerio; Giuseppe Foti; Giuseppe Lamorte; Giuseppe Matullo; Guido Baselli; Hayato Kurihara; Holger Neb; Ilaria My; Ingo Kurth; Isabel Hernández; Isabell Pink; Itziar de Rojas; Iván Galván-Femenia; Jan Cato Holter; Jan Egil Afset; Jan Heyckendorf; Jan Kässens; Jan Kristian Damås; Jan Rybniker; Janine Altmüller; Javier Ampuero; Javier Martín Luca Valenti; Tom H Karlsen; Mario Cáceres; Andre Franke, Detailed stratified GWAS analysis for severe COVID-19 in four European populations, Human Molecular Genetics, 2022, Vol. 31: 3945-3966, ARTÍCULO, Id:907084

-Miriam Cerván-Martín; Frank Tüttelmann; Alexandra M. Lopes; Lara Bossini-Castillo; Rocío Rivera-Egea; Nicolás Garrido; Saturnino Lujan; Gema Romeu; Samuel Santos-Ribeiro; José A. Castilla; M. Carmen Gonzalvo; Ana Clavero; Vicente Maldonado; F. Javier Vicente; Sara González-Muñoz; Andrea Guzmán-Jiménez; Miguel Burgos; Rafael Jiménez; 1 Alberto Pacheco; Cristina González; Susana Gómez; David Amorós; Jesus Aguilar; 8 Fernando Quintana; Carlos Calhaz-Jorge; Ana Aguiar; Joaquim Nunes; Sandra Sousa; Isabel Pereira; Maria Graça Pinto; Sónia Correia; Josvany Sánchez-Curbelo; Olga López-Rodrigo; Javier Martín; Iris Pereira-Caetano; Patricia I. Marques; Filipa Carvalho; Alberto Barros; Jörg Gromoll; Lluís Bassas; Susana Seixas; João Gonçalves; Sara Larriba; Sabine Kliesch; Rogelio J. Palomino-Morales; F. David Carmona, Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility, Communications Biology, 2022, Vol. 5: 12201-1220, ARTÍCULO, Id:905451

-Kazuyoshi Ishigaki; Saori Sakaue; Chikashi Terao; Yang Luo; Kyuto Sonehara; Kensuke Yamaguchi; Tiffany Amariuta; Chun Lai Too; Vincent A Laufer; Ian C Scott; Sebastien Viatte; Meiko Takahashi; Koichiro Ohmura; Akira Murasawa; Motomu Hashimoto; Hiromu Ito; Mohammed Hammoudeh; Samar Al Emadi; Basel K Masri; Hussein Halabi; Humeira Badsha; Imad W Uthman; Xin Wu; Li Lin; Ting Li; Darren Plant; Anne Barton; Gisela Orozco; Suzanne M M Verstappen; John Bowes; Alexander J MacGregor; Suguru Honda; Masaru Koido; Kohei Tomizuka; Yoichiro Kamatani; Hiroaki Tanaka; Eiichi Tanaka; Akari Suzuki; Yuichi Maeda; Kenichi Yamamoto; Satoru Miyawaki; Jinyi Zhang; Christopher I Amos; Edward Keystone; Gertjan Wolbink; Irene van der Horst-Bruinsma; Jing Cui; Katherine P Liao; Robert J Carroll; Hye-Soon Lee; So-Young Bang; Katherine A Siminovitch; Niek de Vries; Lars Alfredsson; Solbritt Rantapää-Dahlqvist; Elizabeth W Karlson; Sang-Cheol Bae; Robert P Kimberly; Jeffrey C Edberg; Xavier Mariette; Tom Huizinga; Philippe Dieudé; Matthias Schneider; Martin Kerick; Joshua C Denny; BioBank Japan Project; Koichi Matsuda; Keitaro Matsuo; Tsuneyo Mimori; Fumihiko Matsuda; Keishi Fujio; Yoshiya Tanaka; Atsushi Kumanogoh; Matthew Traylor; Cathryn M Lewis; Stephen Eyre; Huji Xu; Richa Saxena; Thurayya Arayssi; Yuta Kochi; Katsunori Ikari; Masayoshi Harigai; Peter K Gregersen; Kazuhiko Yamamoto; S Louis Bridges Jr; Leonid Padyukov; Javier Martin; Lars Klareskog; Yukinori Okada; Soumya Raychaudhuri, Multi -ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis, Nature Genetics, 2022, Vol. 54: 1640-1651, ARTÍCULO, Id:905445

-Martin Kerick; Marialbert Acosta-Herrera; Carmen Pilar Simeón-Aznar; José Luis Callejas; Shervin Assassi; International SSc Group; Susanna M Proudman; Mandana Nikpour; Australian Scleroderma Interest Group (ASIG); PRECISESADS Clinical Consortium; Nicolas Hunzelmann; Gianluca Moroncini; Jeska K de Vries-Bouwstra; Gisela Orozco; Anne Barton; Ariane L Herrick; Chikashi Terao; Yannick Allanore; Carmen Fonseca; Marta Eugenia Alarcón-Riquelme; Timothy R D J Radstake; Lorenzo Beretta; Christopher P Denton; Maureen D Mayes; Javier Martin, Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis, npj Genomic Medicine, 2022, Vol. 7: 571-57, ARTÍCULO, Id:905423

-Joao Carlos Batista Liz; Fernanda Genre; Verónica Pulito-Cueto; Sara Remuzgo-Martínez; Diana Prieto-Peña; Ana Márquez; Norberto Ortego-Centeno; María Teresa Leonardo; Ana Peñalba; Javier Narváez; Luis Martín-Penagos; Lara Belmar-Vega; Cristina Gómez-Fernández; José A Miranda-Filloy; Luis Caminal-Montero; Paz Collado; Diego De Árgila; Patricia Quiroga-Colina; Esther F Vicente-Rabaneda; Ana Triguero-Martínez; Esteban Rubio; Manuel León Luque; Juan María Blanco-Madrigal; Eva Galíndez-Agirregoikoa; Javier Martín; Oreste Gualillo; Ricardo Blanco; Santos Castañeda; Miguel A González-Gay; Raquel López-Mejías, IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms, Journal of Clinical Medicine, 2022, Vol. 11: 55719-557, ARTÍCULO, Id:905420

-Gonzalo Villanueva-Martin; Marialbert Acosta-Herrera; Martin Kerick; Elena Lopez-Isac; Carmen Pilar Simeon; Yannick; Allanore; Susanna M. Proudman; Mandana Nikpour; Carmen Fonseca; Christopher P. Denton; Timothy R. D. J. Radstake; Mayes D Maureen; Xia Jiang; Javier Martín; Lara Bossini-Castillo, The effect of body fat distribution on systemic sclerosis, Journal of Clinical Medicine, 2022, Vol. 11: 60120-6014, ARTÍCULO, Id:905418

-Jo, Y.G.; Fernández, L.O.; Coit, P.; Yilmaz, V.; Yentür, S.P.; Alibaz-Oner, F.; Aksu, K.; Erken, E.; Düzgün, N.; Keser, G.; Cefle, A.; Yazici, A.; Ergen, A.; Alpsoy, E.; Salvarani, C.; K¿sac¿k, B.; Kötter, I.; Henes, J.; Ç¿nar, M.; Schaefer, A.; Nohutcu, R.M.; Takeuchi, F.; Harihara, S.; Kaburaki, T.; Messedi, M.; Song, Y.W.; Ka¿ifo¿lu, T.; Martin, J.; González Escribano, M.F.; Saruhan-Direskeneli, G.; Direskeneli, H.; Sawalha, A.H., Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients, Journal of Autoimmunity, 2022, Vol. 132: 102882, ARTÍCULO, Id:903431

-Gonzalo Villanueva-Martín; Javier Martín; Lara Bossini-Castillo, Recent advances in elucidating the genetic basis of systemic sclerosis, Current Opinion in Rheumatology, 2022, Vol. 34: 295-301, ARTÍCULO DE REVISIÓN, Id:901513

-Elkyn Estupiñán-Moreno; Lourdes Ortiz-Fernández; Tianlu Li  3; Jose Hernández-Rodríguez; Laura Ciudad; Eduardo Andrés-León; Laura Carmen Terron-Camero; Sergio Prieto-González; Georgina Espígol-Frigolé; Maria Cinta Cid; Ana Márquez; Esteban Ballesta; Javier Martín, Methylome and transcriptome profiling of giant cell arteritis monocytes reveals novel pathways involved in disease pathogenesis and molecular response to glucocorticoids, Annals of the Rheumatic Diseases, 2022, Vol. 81: 1290-1300, ARTÍCULO, Id:900132

-Adela Madrid-Paredes; Javier Martín; Ana Márquez, 3-Omic Approaches and Treatment Response in Rheumatoid Arthritis, Pharmaceutics, 2022, Vol. 14: 16488-1648, ARTÍCULO DE REVISIÓN, Id:898609

-Bhuwan Khatri; Kandice L Tessneer; Astrid Rasmussen; Farhang Aghakhanian; Tove Ragna Reksten; Adam Adler; Ilias Alevizos; Juan-Manuel Anaya; Lara A Aqrawi; Eva Baecklund; Johan G Brun; Sara Magnusson Bucher; Maija-Leena Eloranta; Fiona Engelke; Helena Forsblad-d'Elia; Stuart B Glenn; Daniel Hammenfors; Juliana Imgenberg-Kreuz; Janicke Liaaen Jensen; Svein Joar Auglænd Johnsen; Malin V Jonsson; Marika Kvarnström; Jennifer A Kelly; He Li; Thomas Mandl; Javier Martín; Gaétane Nocturne; Katrine Brække Norheim; Øyvind Palm; Kathrine Skarstein; Anna M Stolarczyk; Kimberly E Taylor; Maria Teruel; Elke Theander; Swamy Venuturupalli; Daniel J Wallace; Kiely M Grundahl; Kimberly S Hefner; Lida Radfar; David M Lewis; Donald U Stone; C Erick Kaufman; Michael T Brennan; Joel M Guthridge; Judith A James; R Hal Scofield; Patrick M Gaffney; Lindsey A Criswell; Roland Jonsson; Per Eriksson; Simon J Bowman; Roald Omdal; Lars Rönnblom; Blake Warner; Maureen Rischmueller; Torsten Witte; A Darise Farris; Xavier Mariette; Marta E Alarcon-Riquelme; PRECISESADS Clinical Consortium; Caroline H Shiboski; Sjögren¿s International Collaborative Clinical Alliance (SICCA); Marie Wahren-Herlenius; Wan-Fai Ng; UK Primary Sjögren¿s Syndrome Registry; Kathy L Sivils; Indra Adrianto; Gunnel Nordmark; Christopher J Lessard, Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells, Nature Communications, 2022, Vol. 13: 42871-4287, ARTÍCULO, Id:898563

-R Hal Scofield; Valerie M Lewis; Joshua Cavitt; Biji T Kurien , Shervin Assassi; Javier Martin; Olga Gorlova; Peter Gregersen; Annette Lee; Lisa G Rider; Terrance O'Hanlon; Simon Rothwell; James Lilleker; Myositis Genetics Consortium; Xiaoxi Liu; Yuta Kochi; Chikacshi Terao; Ann Igoe; Wendy Stevens; Joanne Sahhar; Janet Roddy; Maureen Rischmueller; Sue Lester; Susanna Proudman; Sixia Chen; Matthew A Brown; Maureen D Mayes; Janine A Lamb; Frederick W Miller., 47XXY and 47XXX in Scleroderma and Myositis, ACR open rheumatology, 2022, Vol. 4: 528-533, ARTÍCULO, Id:898559

-Prieto-Peña, D.; Remuzgo-Martínez, S.; Genre, F.; Ocejo-Vinyals, J.G.; Atienza-Mateo, B.; Muñoz-Jiménez, A.; Ortiz-Sanjuán, F.; Romero-Yuste, S.; Moriano, C.; Galíndez-Agirregoikoa, E.; Calvo, I.; Ortego-Centeno, N.; Álvarez-Rivas, N.; Miranda-Filloy, J.A.; Llorente, I.; Blanco, R.; Gualillo, O.; Martín, J.; Márquez, A.; Castañeda, S.; Ferraz-Amaro, I.; López-Mejías, R.; González-Gay, M.A., Vascular endothelial growth factor haplotypes are associated with severe ischaemic complications in giant cell arteritis regardless of the disease phenotype, Clinical and Experimental Rheumatology, 2022, Vol. 40: 727-733, ARTÍCULO, Id:896242

-Elio G Carmona; Jose A García-Giménez; Raquel López-Mejías; Chiea Chuen Khor; Jong-Keuk Lee; Ekim Taskiran; Seza Ozen; Alojzija Hocevar; Lili Liu; Mario Gorenjak; Uro? Poto¿nik; Krzysztof Kiryluk; Norberto Ortego-Centeno; María C Cid; José Hernández-Rodríguez; Santos Castañeda; Miguel A González-Gay; David Burgner; Javier Martín; Ana Márquez, Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis, Rheumatology, 2022, Vol. 61: 1204-1210, ARTÍCULO, Id:892520

-Javier Rodríguez-Ubreva; Anna Arutyunyan; Marc Jan Bonder; Lucía Del Pino-Molina; Stephen J. Clark; Carlos de la Calle-Fabregat; Luz Garcia-Alonso; Louis-François Handfield; Laura Ciudad; Eduardo Andrés-León; Felix Krueger; Francesc Català-Moll; Virginia C. Rodríguez-Cortez; Krzysztof Polanski; Lira Mamanova; Stijn van Dongen; Vladimir Yu. Kiselev; María T. Martínez-Saavedra; Holger Heyn; Javier Martín; Klaus Warnatz; Eduardo López-Granados; Carlos Rodríguez-Gallego; Oliver Stegle; Gavin Kelsey; Roser Vento-Tormo; Esteban Ballestar, Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses, Nature Communications, 2022, Vol. 13: 11-1779, ARTÍCULO, Id:888776

-Ana Márquez; Javier Martín, Genetic overlap between type 1 diabetes and other autoimmune diseases, Seminars in Immunopathology, 2022, Vol. 44: 81-97, ARTÍCULO DE REVISIÓN, Id:869923

-COVID-19 Host Genetics Initiative; co-author Javier Martin; Jordi Perez-Tur, Mapping the human genetic architecture of COVID-19., Nature, 2021, Vol. 600: 472-477, ARTÍCULO, Id:861253

-María Teruel; Guillermo Barturen; Manuel Martínez-Bueno; Olivia Castellini-Pérez; Miguel Barroso-Gil; Elena Povedano; Martin Kerick; Francesc Català-Moll; Zuzanna Makowska; Anne Buttgereit; PRECISESADS Clinical Consortium; PRECISESADS Flow Cytometry Study Group; Jacques-Olivier Pers; Concepción Marañón; Esteban Ballestar; Javier Martin; Elena Carnero-Montoro; Marta E Alarcón-Riquelme, Integrative epigenomics in Sjögren¿s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature., Scientific Reports, 2021, Vol. 11: 232921-23292, ARTÍCULO, Id:861249

-Casares-Marfil D; Guillen-Guio B; Lorenzo-Salazar JM; Rodríguez-Pérez H; Kerick M; Jaimes-Campos MA; Díaz ML; Estupiñán E; Echeverría LE; González CI; Martin J*; Flores C*; Acosta-Herrera M*., Admixture mapping analysis reveals differential genetic ancestry associated with Chagas disease susceptibility in the Colombian population., Human Molecular Genetics, 2021, Vol. 30: 2503-2512, ARTÍCULO, Id:861246

-Diana Prieto-Peña; Sara Remuzgo-Martínez; Belén Atienza-Mateo; Raquel López-Mejias; Miguel Á González-Gay; Spanish collaborative group for the study of large-vessel vasculitis( Fernanda Genre; Javier Gonzalo Ocejo-Vinyals; Alejandro Muñoz Jiménez; Francisco Ortiz-Sanjuán, Susana Romero-Yuste; Clara Moriano; Eva Galíndez-Agirregoikoa; Itziar Calvo; Norberto Ortego-Centeno; Noelia Álvarez-Rivas; José A Miranda-Filloy; Irene Llorente; Ricardo Blanco; Oreste Gualillo; Javier Martín; Ana Márquez; Santos Castañeda; Iván Ferraz-Amaro ), Cranial and extracranial giant cell arteritis do not have different HLA-DRB1 and HLA-B association in Caucasian individuals., Arthritis Research and Therapy, 2021, Vol. 23: 268-268, CARTA AL EDITOR, Id:861243

-Desiré Casares-Marfil; Martin Kerick; Eduardo Andrés-León; Pau Bosch-Nicolau; Israel Molina; Chagas Genetics CYTED Network; Javier Martin; Marialbert Acosta-Herrera, GWAS loci associated with Chagas cardiomyopathy influences DNA methylation levels, PLoS Neglected Tropical Diseases, 2021, Vol. 15: 9874-e0009874, ARTÍCULO, Id:856180

-Álvarez-Cienfuegos, A.; Cantero-Nieto, L.; García-Gómez, J.A.; Callejas-Rubio, J.L.; Martin, J.; Ortego-Centeno, N., Fibroblast growth factor-23 is associated with high-density lipoprotein in systemic sclerosis female patients, Phillippine Journal of Internal Medicine, 2021, Vol. 59: 9-13, ARTÍCULO, Id:851862

-Prieto-Peña, D.; Remuzgo-Martínez, S.; Ocejo-Vinyals, J.G.; Atienza-Mateo, B.; Genre, F.; Jiménez, A.M.; Ortiz-Sanjuán, F.; Romero-Yuste, S.; Moriano, C.; Galíndez-Agirregoikoa, E.; Calvo, I.; Ortego-Centeno, N.; Álvarez-Rivas, N.; Miranda-Filloy, J.A.; Llorente, I.; García-García, J.; Blanco, R.; Gualillo, O.; Martín, J.; Castañeda, S.; López-Mejías, R.; González-Gay, M.A., The presence of both HLA-DRB1*04:01 and HLA-B*15:01 increases the susceptibility to cranial and extracranial giant cell arteritis, Clinical and Experimental Rheumatology, 2021, Vol. 39: , ARTÍCULO, Id:851151

-Remuzgo-Martínez, S.; Atienza-Mateo, B.; Ocejo-Vinyals, J.G.; Pulito-Cueto, V.; Prieto-Peña, D.; Genre, F.; Marquez, A.; Llorca, J.; Mora Cuesta, V.M.; Fernández, D.I.; Riesco, L.; Ortego-Centeno, N.; Gómez, N.P.; Mera, A.; Martínez-Barrio, J.; López-Longo, F.J.; Lera-Gómez, L.; Moriano, C.; Díez, E.; Tomero, E.; Calvo-Alén, J.; Romero-Bueno, F.; Sanchez-Pernaute, O.; Nuño, L.; Bonilla, G.; Grafia, I.; Prieto-González, S.; Narvaez, J.; Trallero-Araguas, E.; Selva-O'Callaghan, A.; Gualillo, O.; Martín, J.; Cavagna, L.; Castañeda, S.; Cifrian, J.M.; Renzoni, E.A.; López-Mejías, R.; González-Gay, M.A., HLA association with the susceptibility to anti-synthetase syndrome, JOINT BONE SPINE, 2021, Vol. 88: 3-105115, ARTÍCULO, Id:848691

-Prieto-Peña D; Remuzgo-Martínez S; Genre F; Pulito-Cueto V; Atienza-Mateo B; Llorca J; Sevilla-Pérez B; Ortego-Centeno N; Marquez A; Lera-Gómez L; Leonardo MT; Peñalba A; Narváez J; Martín-Penagos L; Rodrigo E; Miranda-Filloy JA; Caminal-Montero L; Collado P; Sánchez Pérez J; de Argila D; Rubio E; León Luque M; Blanco-Madrigal JM; Galíndez-Agirregoikoa E; Gualillo O; Martín J; Castañeda S; Blanco R; González-Gay MA; López-Mejías R, Role of the IL33 and IL1RL1 pathway in the pathogenesis of Immunoglobulin A vasculitis., Scientific Reports, 2021, Vol. 11: 16161-16163, ARTÍCULO, Id:845394

-Soret P; Le Dantec C; Desvaux E; Foulquier N; Chassagnol B; Hubert S; Jamin C; Barturen G; Desachy G; Devauchelle-Pensec V; Boudjeniba C; Cornec D; Saraux A; Jousse-Joulin S; Barbarroja N; Rodríguez-Pintó I; De Langhe E; Beretta L; Chizzolini C; Kovács L; Witte T; PRECISESADS Clinical Consortium; PRECISESADS Flow Cytometry Consortium; Bettacchioli E; Buttgereit A; Makowska Z; Lesche R; Borghi MO; Martin J; Courtade-Gaiani S; Xuereb L; Guedj M; Moingeon P; Alarcón-Riquelme ME; Laigle L; Pers JO, A new molecular classification to drive precision treatment strategies in primary Sjögren's syndrome., Nature Communications, 2021, Vol. 12: 35231-3523, ARTÍCULO, Id:845393

-Prieto-Peña D; Genre F; Remuzgo-Martínez S; Pulito-Cueto V; Atienza-Mateo B; Llorca J; Sevilla-Pérez B; Ortego-Centeno N; Lera-Gómez L; Leonardo MT; Peñalba A; Narváez J; Martín-Penagos L; Rodrigo E; Miranda-Filloy JA; Caminal-Montero L; Collado P; Pérez JS; de Argila D; Rubio E; Luque ML; Blanco-Madrigal JM; Galíndez-Agirregoikoa E; Gualillo O; Martín J; Castañeda S; Blanco R; González-Gay MA; López-Mejías R., BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis., Scientific Reports, 2021, Vol. 11: 11511-1151, ARTÍCULO, Id:845392

-Acosta-Herrera M; Kerick M; Lopéz-Isac E; Assassi S; Beretta L; Simeón-Aznar CP; Ortego-Centeno N; International SSc Group; Proudman SM; Australian Scleroderma Interest Group (ASIG; Hunzelmann N; Moroncini G; de Vries-Bouwstra JK; Orozco G; Barton A; Herrick AL; Terao C; Allanore Y; Brown MA; Radstake TR; Fonseca C; Denton CP; Mayes MD; Martin J., Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes., Annals of the Rheumatic Diseases, 2021, Vol. 80: 1040-1047, ARTÍCULO, Id:845388

-Prieto-Peña D; Remuzgo-Martínez S; Ocejo-Vinyals JG; Atienza-Mateo B; Genre F; Muñoz-Jimenez A; Ortiz-Sanjuán F; Romero-Yuste S; Moriano C; Galindez-Agirregoikoa E; Calvo I; Ortego-Centeno N; Álvarez-Rivas N; Miranda-Filloy JA; Llorente I; García-García J; Blanco R; Gualillo O; Martin J; Castañeda S; Lopez-Mejías R; González-Gay MA, The presence of both HLA-DRB1[*]04:01 and HLA-B[*]15:01 increases the susceptibility to cranial and extracranial giant cell arteritis., Clinical and Experimental Rheumatology, 2021, Vol. 129: 21-26, ARTÍCULO, Id:845385

-Casares-Marfil D; Strauss M; Bosch-Nicolau P; Lo Presti MS, Molina I; Chevillard C; Cunha-Neto E; Sabino E; Ribeiro AL; González CI; Martín J*; Acosta-Herrera M*., A genome-wide association study identifies novel susceptibility loci in chronic Chagas cardiomyopathy, Clinical Infectious Diseases, 2021, Vol. 73: 672-679, ARTÍCULO, Id:845384

-Lourdes Ortiz Fernández; Patrick Coit; Vuslat Yilmaz; Sibel P Yentür; Fatma Alibaz-Oner; Kenan Aksu; Eren Erken; Nursen Düzgün; Gokhan Kese; Ayse Cefle; Ayten Yazici; Andac Ergen; Erkan Alpsoy; Carlo Salvarani; Bruno Casali; Bünyamin K¿sac¿k; Ina Kötter; Jörg Henes; Muhammet Ç¿nar; Arne Schaefer; Rahime M Nohutcu; Alexandra Zhernakova; Cisca Wijmenga; Fujio Takeuchi; Shinji Harihara; Toshikatsu Kaburaki; Meriam Messedi; Yeong-Wook Song; Timuçin Ka¿ifo¿lu; F David Carmona; Joel M Guthridge; Judith A James; Javier Martin; María Francisca González Escribano; Güher Saruhan-Direskenel; Haner Direskeneli; Amr H Sawalha, Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet's Disease, Arthritis and Rheumatology, 2021, Vol. 73: 1244-1252, ARTÍCULO, Id:845365

-Kerick M; González-Serna D; Carnero-Montoro E; Teruel M; Acosta-Herrera M; Makowska Z; Buttgereit A; Babaei S; Barturen G; López-Isac E; PRECISESADS Clinical Consortium; Lesche R; Beretta L; Alarcon-Riquelme ME; Martin J, Expression Quantitative Trait Locus Analysis in Systemic Sclerosis Identifies New Candidate Genes Associated With Multiple Aspects of Disease Pathology, Arthritis and Rheumatology, 2021, Vol. 73: 1288-1300, ARTÍCULO, Id:845257

-Cristina Regueiro; Desire Casares-Marfil; Karin Lundberg; Rachel Knevel; Marialbert Acosta-Herrera; Luis Rodriguez-Rodriguez; Raquel Lopez-Mejias; Eva Perez-Pampin; Ana Triguero-Martinez; Laura Nuño; Ivan Ferraz-Amaro; Javier Rodriguez- Carrio; Rosario Lopez-Pedrera; Montse Robustillo-Villarino; Santos Castañeda; Sara Remuzgo-Martinez; Mercedes Alperi; Juan J Alegre-Sancho; Alejandro Balsa; Isidoro Gonzalez-Alvaro; Antonio Mera; Benjamin Fernandez-Gutierrez; Miguel A Gonzalez-Gay; Leendert A Trouw; Caroline Grönwall; Leonid Padyukov; Javier Martin; Antonio Gonzalez, HLA-B*08 identified as the most associated MHC locus for anti-carbamylated protein antibody-positive/anti-CCP-negative rheumatoid arthritis, Arthritis and Rheumatology, 2021, Vol. 73: 963-969, ARTÍCULO, Id:842142

-Guillermo Barturen; Sepideh Babaei; Francesc Català-Moll; Manuel Martínez-Bueno; Zuzanna Makowska; Jordi Martorell-Marugán; Pedro Carmona-Sáez; Daniel Toro-Domínguez; Elena Carnero-Montoro; María Terue; Martin Kerick; Marialbert Acosta-Herrera; Lucas Le Lann; Christophe Jamin; Javier Rodríguez-Ubreva; Antonio García-Gómez; Jorge Kageyama; Anne Buttgereit; Sikander Hayat; Joerg Mueller; Ralf Lesche; Maria Hernandez-Fuentes; Maria Juarez; Tania Rowley; Rosario Lopez-Pedrera; Rafaela Ortega-Castro; Norberto Ortego; Enrique Raya; Carolina Artusi; Robert J Benschop; Chris Chamberlain; Ernst R Dow; Yiannis Ioannou; Laurence Laigle; Jacqueline Marovac; Jerome Wojcik; Yves Renaudineau; Maria Orietta Borghi; Johan Frostegård; Javier Martín; Lorenzo Beretta; Esteban Ballestar; Fiona McDonald; Jacques-Olivier Pers; Marta E Alarcón-Riquelme, Integrative Analysis Reveals a Molecular Stratification of Systemic Autoimmune Diseases, Arthritis and Rheumatology, 2021, Vol. 73: 1073-1085, ARTÍCULO, Id:842140

-Lara Bossini-Castillo;  Gonzalo Villanueva-Martin; Martin Kerick; Marialbert Acosta-Herrera; Elena López-Isac; Carmen P Simeón; Norberto Ortego-Centeno; Shervin Assassi; International SSc Group;  Australian Scleroderma Interest Group (ASIG);  PRECISESADS Clinical Consortium;  PRECISESADS Flow Cytometry study group;  Nicolas Hunzelmann; Armando Gabrielli; J K de Vries-Bouwstra; Yannick Allanore; Carmen Fonseca; Christopher P Denton; Timothy Rdj Radstake; Marta Eugenia Alarcón-Riquelme; Lorenzo Beretta; Maureen D Mayes; Javier Martin, Genomic Risk Score impact on susceptibility to systemic sclerosis, Annals of the Rheumatic Diseases, 2021, Vol. 80: 118-127, ARTÍCULO, Id:818450

-Cantero-Nieto, L.; Alvarez-Cienfuegos, A.; García-Gómez, J.A.; Martin, J.; González-Gay, M.A.; Ortego-Centeno, N., Role of fibroblast growth factor-23 in calcinosis in women with systemic sclerosis, Acta Reumatologica Portuguesa, 2020, Vol. 45: 259-264, ARTÍCULO, Id:844481

-Beretta, L.; Barturen, G.; Vigone, B.; Bellocchi, C.; Hunzelmann, N.; De Langhe, E.; Cervera, R.; Gerosa, M.; Kovács, L.; Ortega Castro, R.; Almeida, I.; Cornec, D.; Chizzolini, C.; Pers, J.O.; Makowska, Z.; Lesche, R.; Kerick, M.; Alarcón-Riquelme, M.E.; Martin, J., Genome-wide whole blood transcriptome profiling in a large European cohort of systemic sclerosis patients, Annals of the Rheumatic Diseases, 2020, Vol. 79: 1218-1226, ARTÍCULO, Id:822707

-David González-Serna; Gonzalo Villanueva-Martin; Marialbert Acosta-Herrera; Ana Márquez; Javier Martín, Approaching Shared Pathophysiology in Immune-Mediated Diseases through Functional Genomics, GENES, 2020, Vol. 11: 148212-1482, ARTÍCULO, Id:818500

-Diana Prieto-Peña; Sara Remuzgo-Martínez; Javier Gonzalo Ocejo-Vinyals; Belén Atienza-Mateo; Alejandro Muñoz-Jiménez; Francisco Ortiz-Sanjuán; Susana Romero-Yuste; Clara Moriano; Eva Galíndez-Agirregoikoa; José A Miranda-Filloy; Ricardo Blanco; Oreste Gualillo; Javier Martín; Santos Castañeda; Raquel López-Mejías; Miguel A González-Gay, Cranial and extracranial giant cell arteritis share similar HLA-DRB1 association, Seminars in Arthritis and Rheumatism, 2020, Vol. 50: 897-901, ARTÍCULO, Id:818497

-Anca Liliana Cismaru; Deborah Rudin; Luisa Ibañez; Evangelia Liakoni; Nicolas Bonadies; Reinhold Kreutz; Alfonso Carvajal; Maria Isabel Lucena; Javier Martin; Esther Sancho Ponce; Mariam Molokhia; Niclas Eriksson; EuDAC Collaborators; Stephan Krähenbühl; Carlo R Largiadèr; Manuel Haschke; Pär Hallberg; Mia Wadelius; Ursula Amstutz., Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations, GENES, 2020, Vol. 11: 127511-1275, ARTÍCULO, Id:818492

-Severe Covid-19 GWAS Group; Ellinghaus D; Degenhardt F; Bujanda L; Buti M; Albillos A; Invernizzi P; Fernández J; Prati D; Baselli G; Asselta R; Grimsrud MM; Milani C; Aziz F; Kässens J; May S; Wendorff M; Wienbrandt L; Uellendahl-Werth F; Zheng T; Yi X; de Pablo R; Martín J; Erdmann J; Ferrusquía-Acosta J; Garcia-Etxebarria K; Izquierdo-Sanchez L; Bettini LR; Sumoy L; Terranova L; Moreira L; Santoro L; Hov JR; Folseraas T; Valenti L; Franke A; Karlsen TH., Genomewide Association Study of Severe Covid-19 with Respiratory Failure, New England Journal of Medicine, 2020, Vol. 383: 1522-1534, ARTÍCULO, Id:818457

-Stern, E.P.; Guerra, S.G.; Chinque, H.; Acquaah, V.; González-Serna, D.; Ponticos, M.; Martin, J.; Ong, V.H.; Khan, K.; Nihtyanova, S.I.; Harber, M.; Burns, A.; Mayes, M.D.; Assassi, S.; Fonseca, C.; Denton, C.P., Analysis of Anti-RNA Polymerase III Antibody-positive Systemic Sclerosis and Altered GPATCH2L and CTNND2 Expression in Scleroderma Renal Crisis, Journal of Rheumatology, 2020, Vol. 47: 1668-1677, ARTÍCULO, Id:817407

-Ortiz-Fernández, L.; López-Mejias, R.; Carmona, F.D.; Castaño-Nuñez, A.L.; Lyons, P.A.; Caruz, A.; Gónzalez-Escribano, M.F.; Smith, K.G.C.; González-Gay, M.A.; Martin, J., The role of a functional variant of TYK2 in vasculitides and infections, Clinical and Experimental Rheumatology, 2020, Vol. 38: 949-955, ARTÍCULO, Id:816911

-Tianlu Li; Eduardo Andrés-León; Lourdes Ortiz-Fernández; Laura Ciudad; Biola M Javierre; Elena López-Isac; Alfredo Guillén-Del-Castillo; Carmen Pilar Simeón-Aznar; Esteban Ballestar; Javier Martin, Epigenomics and transcriptomics of systemic sclerosis CD4+ T cells reveal long-range dysregulation of key inflammatory pathways mediated by disease-associated susceptibility loci., Genome Medicine, 2020, Vol. 12: 11-81, ARTÍCULO, Id:814086

-Lamana, A.; Villares, R.; Seoane, I.V.; Andrés, N.; Lucas, P.; Emery, P.; Vital, E.M.; Triguero-Martínez, A.; Marquez, A.; Ortiz, A.M.; Maxime, R.; Martínez, C.; Martín, J.; Gomariz, R.P.; Ponchel, F.; González-Álvaro, I.; Mellado, M., Identification of a Human SOCS1 Polymorphism That Predicts Rheumatoid Arthritis Severity, Frontiers in Immunology, 2020, Vol. 11: 1336, ARTÍCULO, Id:811724

-Strauss, M.; Casares-Marfil, D.; Alcaraz, A.; Palma-Vega, M.; Bosch-Nicolau, P.; Lo Presti, M.S.; Molina, I.; González, C.I.; Martín, J.; Acosta-Herrera, M., Lack of Association of IL6 polymorphism with the susceptibility to Chagas disease in Latin American populations, Acta Tropica, 2020, Vol. 210: 105546, ARTÍCULO, Id:809482

-González-Serna D; Ochoa E; López-Isac E; Julià A; Degenhardt F; Ortego-Centeno N; Radstake TRDJ; Franke A; Marsal S; Mayes MD; Martín J; Márquez A, A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease., Scientific Reports, 2020, Vol. 10: 18621-1862, ARTÍCULO, Id:808314

-Genre, F.; Remuzgo-Martínez, S.; Prieto-Peña, D.; Atienza-Mateo, B.; Pulito-Cueto, V.; Llorca, J.; Sevilla-Pérez, B.; Ortego-Centeno, N.; Lera-Gómez, L.; Leonardo, M.T.; Peñalba, A.; Cabero, M.J.; Martín-Penagos, L.; Miranda-Filloy, J.A.; Navas Parejo, A.; Sánchez Pérez, J.; de Argila, D.; Rubio, E.; León Luque, M.; Blanco-Madrigal, J.M.; Galíndez-Agirregoikoa, E.; Blanco, R.; Gualillo, O.; Martín, J.; Castañeda, S.; González-Gay, M.A.; López-Mejías, R., Role of IRF5 in the pathogenesis of immunoglobulin-A vasculitis, Clinical and Experimental Rheumatology, 2020, Vol. 38: 182-187, ARTÍCULO, Id:807124

-López-Mejías, R.; Genre, F.; Remuzgo-Martínez, S.; Pulito-Cueto, V.; Sevilla-Pérez, B.; Llorca, J.; Ortego-Centeno, N.; Mijares, V.; Lera-Gómez, L.; Leonardo, M.T.; Peñalba, A.; Cabero, M.J.; Martín-Penagos, L.; Miranda-Filloy, J.A.; Navas Parejo, A.; Sánchez Pérez, J.; de Argila, D.; Rubio, E.; León Luque, M.; Blanco-Madrigal, J.M.; Galíndez-Agirregoikoa, E.; Martín, J.; Blanco, R.; Castañeda, S.; González-Gay, M.A., Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis, Clinical and Experimental Rheumatology, 2020, Vol. 38: 166-170, ARTÍCULO, Id:807123

-Strauss, M.; Palma-Vega, M.; Casares-Marfil, D.; Bosch-Nicolau, P.; Lo Presti, M.S.; Molina, I.; González, C.I.; Paglini, P.A.; Schijman, A.G.; Robello, C.; Echeverría, L.E.; Vargas-Alarcón, G.; Calzada, J.E.; Fernández-Mestre, M.; Fresno, M.; Pinazo, M.J.; Martín, J.; Acosta-Herrera, M., Genetic polymorphisms of IL17A associated with Chagas disease: results from a meta-analysis in Latin American populations, Scientific Reports, 2020, Vol. 10: 1-5015, ARTÍCULO, Id:805792

-Casares-Marfil, D.; Martín, J.; Acosta-Herrera, M., Genomic opportunities for drug repositioning in systemic seropositive rheumatic diseases, Expert Review of Clinical Immunology, 2020, Vol. 16: 343-346, EDITORIAL, Id:805532

-Oh, Y.J.; Shin, D.Y.; Hwang, S.M.; Kim, S.M.; Im, K.; Park, H.S.; Kim, J.A.; Song, Y.W.; Márquez, A.; Martín, J.; Lee, D.S.; Park, J.K., Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome, Korean Journal of Internal Medicine, 2020, Vol. 35: 457-464, ARTÍCULO, Id:805429

-Blanca, M.; Oussalah, A.; Cornejo-García, J.A.; Blanca-López, N.; Guéant-Rodriguez, R.M.; Doña, I.; Mayorga, C.; Chery, C.; Rouyer, P.; Carmona, F.D.; Bossini Castillo, L.; Canto, G.; Martin, J.; Torres, M.J.; Guéant, J.L., GNAI2 variants predict nonsteroidal anti-inflammatory drug hypersensitivity in a genome-wide study, Allergy: European Journal of Allergy and Clinical Immunology, 2020, Vol. 75: 1250-1253, CARTA AL EDITOR, Id:790849

-Martín, J.; Carmona, F.D., Preface, Rare Diseases of the Immune System, 2019, Vol. : v-vi, EDITORIAL, Id:871564

-Alvarez-Cienfuegos, A.; Cantero-Nieto, L.; García-Gómez, J.A.; Ríos-Fernández, R.; Martin, J.; González-Gay, M.A.; Ortego-Centeno, N., Endothelin-1 serum levels in women with Rheumatoid Arthritis, Acta Reumatologica Portuguesa, 2019, Vol. 2019: 250-257, ARTÍCULO, Id:807368

-Strauss M; Acosta-Herrera M; Alcaraz A; Casares-Marfil D; Bosch-Nicolau P; Lo Presti MS; Molina I; González CI; Chagas Genetics CYTED Network; Martín J, Association of IL18 genetic polymorphisms with Chagas disease in Latin American populations., PLoS Neglected Tropical Diseases, 2019, Vol. 13: e0007859-, ARTÍCULO, Id:777918

-Castaño-Núñez Á; Montes-Cano MA; García-Lozano JR; Ortego-Centeno N; García-Hernández FJ; Espinosa G; Graña-Gil G; Sánchez-Bursón J; Juliá MR; Solans R; Blanco R; Barnosi-Marín AC; Gómez de la Torre R; Fanlo P; Rodríguez-Carballeira M; Rodríguez-Rodríguez L; Camps T; Castañeda S; Alegre-Sancho JJ; Martín J; González-Escribano MF, Association of Functional Polymorphisms of KIR3DL1/DS1 With Behçet's Disease., Frontiers in Immunology, 2019, Vol. 10: 2755-2755, ARTÍCULO, Id:775539

-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, GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways., Nature Communications, 2019, Vol. 10: 49551-4955, ARTÍCULO, Id:774185

-Pouget JG; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Han B; Wu Y; Mignot E; Ollila HM; Barker J; Spain S, Dand N; Trembath R; Martin J; Mayes MD; Bossini-Castillo L; López-Isac E; Jin Y; Santorico SA; Spritz RA; Hakonarson H; Polychronakos C; Raychaudhuri S; Knight J, Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk., Human Molecular Genetics, 2019, Vol. 28: 3498-3513, ARTÍCULO, Id:774174

-Rodríguez-Ubreva, J.; De La Calle-Fabregat, C.; Li, T.; Ciudad, L.; Ballestar, M.L.; Català-Moll, F.; Morante-Palacios, O.; Garcia-Gomez, A.; Celis, R.; Humby, F.; Nerviani, A.; Martin, J.; Pitzalis, C.; Cañete, J.D.; Ballestar, E., Inflammatory cytokines shape a changing DNA methylome in monocytes mirroring disease activity in rheumatoid arthritis, Annals of the Rheumatic Diseases, 2019, Vol. : , ARTÍCULO, Id:770305

-Acosta-Herrera M; González-Gay MA; Martín J; Márquez A, Leveraging Genetic Findings for Precision Medicine in Vasculitis., Frontiers in Immunology, 2019, Vol. 2: 1796-, ARTÍCULO DE REVISIÓN, Id:768968

-Carnero-Montoro E; Barturen G; Povedano E; Kerick M; Martinez-Bueno M; PRECISESADS Clinical Consortium; Ballestar E; Martin J; Teruel M; Alarcón-Riquelme M, Epigenome-Wide Comparative Study Reveals Key Differences Between Mixed Connective Tissue Disease and Related Systemic Autoimmune Diseases., Frontiers in Immunology, 2019, Vol. 7: 1880AUG-1880, ARTÍCULO, Id:768966

-Acosta-Herrera M; González-Serna D; Martín J, The Potential Role of Genomic Medicine in the Therapeutic Management of Rheumatoid Arthritis., Journal of Clinical Medicine, 2019, Vol. 10: E8268(6)-826, ARTÍCULO DE REVISIÓN, Id:768950

-Acosta-Herrera, M.; López-Isac, E.; Martín, J., Towards a Better Classification and Novel Therapies Based on the Genetics of Systemic Sclerosis, Current Rheumatology Reports, 2019, Vol. 21: 9-44, ARTÍCULO DE REVISIÓN, Id:767716

-Duffus, K.; López-Isac, E.; Teruel, M.; Simeón, C.P.; Carreria, P.; Ortego-Centeno, N.; Vicente, E.; Worthington, J.; Herrick, A.L.; Martin, J., Association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis-related calcinosis, Rheumatology, 2019, Vol. 58: 1299-1301, CARTA AL EDITOR, Id:767415

-Acosta-Herrera, M.; Strauss, M.; Casares-Marfil, D.; Martín, J., Genomic medicine in Chagas disease, Acta Tropica, 2019, Vol. 197: 105062, ARTÍCULO DE REVISIÓN, Id:766758

-Affandi, A.J.; Carvalheiro, T.; Ottria, A.; Broen, J.C.A.; Bossini-Castillo, L.; Tieland, R.G.; Bon, L.V.; Chouri, E.; Rossato, M.; Mertens, J.S.; Garcia, S.; Pandit, A.; De Kroon, L.M.G.; Christmann, R.B.; Martin, J.; Van Roon, J.A.G.; Radstake, T.R.D.J.; Marut, W., Low RUNX3 expression alters dendritic cell function in patients with systemic sclerosis and contributes to enhanced fibrosis, Annals of the Rheumatic Diseases, 2019, Vol. : , ARTÍCULO, Id:766567

-Rodriguez-Nicolas, A.; Jiménez, P.; Carmona, F.D.; Martín, J.; Matas Cobos, A.M.; Ruiz-Cabello, F.; Redondo-Cerezo, E., Association between Genetic Polymorphisms of Inflammatory Response Genes and Acute Pancreatitis, Immunological Investigations, 2019, Vol. : , ARTÍCULO, Id:763432

-Carmona, F.D.; López-Mejías, R.; Márquez, A.; Martín, J.; González-Gay, M.A., Genetic Basis of Vasculitides with Neurologic Involvement, NEUROLOGIC CLINICS, 2019, Vol. : , ARTÍCULO DE REVISIÓN, Id:762309

-Ferreiro-Iglesias, A.; Montes, A.; Perez-Pampin, E.; Cañete, J.D.; Raya, E.; Magro-Checa, C.; Vasilopoulos, Y.; Caliz, R.; Ferrer, M.A.; Joven, B.; Carreira, P.; Balsa, A.; Salcedo, D.P.; Blanco, F.J.; Moreno-Ramos, M.J.; Manrique-Arija, S.; Del Carmen Ordonez, M.; Alegre-Sancho, J.J.; Narvaez, J.; Narvaez, J.; Navarro-Sarabia, F.; Moreira, V.; Valor, L.; Garcia-Portales, R.; Marquez, A.; Gomez-Reino, J.J.; Martin, J.; Gonzalez, A., Evaluation of 12 GWAS-drawn SNPs as biomarkers of rheumatoid arthritis response to TNF inhibitors. A potential SNP association with response to etanercept, PLoS ONE, 2019, Vol. 14: 2-e0213073, ARTÍCULO, Id:762086

-Burillo-Sanz, S.; Montes-Cano, M.A.; García-Lozano, J.R.; Olivas-Martínez, I.; Ortego-Centeno, N.; García-Hernández, F.J.; Espinosa, G.; Graña-Gil, G.; Sánchez-Bursón, J.; Juliá, M.R.; Solans, R.; Blanco, R.; Barnosi-Marín, A.C.; Gómez de la Torre, R.; Fanlo, P.; Rodríguez-Carballeira, M.; Rodríguez-Rodríguez, L.; Camps, T.; Castañeda, S.; Alegre-Sancho, J.J.; Martín, J.; González-Escribano, M.F., Behçet’s disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes, Scientific Reports, 2019, Vol. 9: 1-2777, ARTÍCULO, Id:761847

-Acosta-Herrera M; Kerick M; González-Serna D; Wijmenga C; Franke A; Gregersen PK; Padyukov L; Worthington J; Vyse TJ; Alarcón-Riquelme ME; Mayes MD; Martin J; Myositis Genetics Consortium; Scleroderma Genetics Consortium., Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases., Annals of the Rheumatic Diseases, 2019, Vol. 78: 311-319, ARTÍCULO, Id:740977

-González-Serna D; López-Isac E; Yilmaz N; Gharibdoost F; Jamshidi A; Kavosi H; Poursani S; Farsad F; Direskeneli H; Saruhan-Direskeneli G; Vargas S; Sawalha AH; Brown MA; Yavuz S; Mahmoudi M; Martin J, Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study., Rheumatology, 2019, Vol. 58: 289-298, ARTÍCULO, Id:731679

-López-Mejías R*; David Carmona F*; Genre F; Remuzgo-Martínez S; González-Juanatey C; Corrales A; Vicente EF; Pulito-Cueto V; Miranda-Filloy JA; Ramírez Huaranga MA; Blanco R; Robustillo-Villarino M; Rodríguez-Carrio J; Alperi-López M; Alegre-Sancho JJ; Mijares V; Lera-Gómez L; Pérez-Pampín E; González A; Ortega-Castro R; López-Pedrera C; García Vivar ML; Gómez-Arango C; Raya E; Narvaez J; Balsa A; López-Longo FJ; Carreira P; González-Álvaro I; Rodríguez-Rodríguez L; Fernández-Gutiérrez B; Ferraz-Amaro; Gualillo O; Castañeda S; Martín J*; Llorca J*; González-Gay MA, Identification of a 3'-Untranslated Genetic Variant of RARB Associated With Carotid Intima-Media Thickness in Rheumatoid Arthritis: A Genome-Wide Association Study, Arthritis and Rheumatism, 2019, Vol. 71: 351-360, ARTÍCULO, Id:731677

-Regueiro C; Rodriguez-Rodriguez L; Triguero-Martinez A; Nuño L; Castaño-Nuñez AL; Villalva A; Perez-Pampin E; Lopez-Golan Y; Abasolo L; Ortiz AM; Herranz E; Pascual-Salcedo D; Martínez-Feito A; Boveda MD; Gomez-Reino JJ; Martín J; Gonzalez-Escribano MF; Fernandez-Gutierrez B; Balsa A; Gonzalez-Alvaro I; Gonzalez A, Specific association of HLA-DRB1*03 with anti-carbamylated protein antibodies in patients with RA., Arthritis and Rheumatism, 2019, Vol. 71: 331-339, ARTÍCULO, Id:731676

-Montes, P.; Kerick, M.; Bernal, M.; Hernández, F.; Jiménez, P.; Garrido, P.; Márquez, A.; Jurado, M.; Martin, J.; Garrido, F.; Ruiz-Cabello, F., Genomic loss of HLA alleles may affect the clinical outcome in low-risk myelodysplastic syndrome patients, Oncotarget, 2018, Vol. 9: 36929-36944, ARTÍCULO, Id:739224

-Márquez A; Kerick M; Zhernakova A; Gutierrez-Achury J; Chen WM; Onengut-Gumuscu S; González-Álvaro I; Rodriguez-Rodriguez L; Rios-Fernández R; González-Gay MA; Coeliac Disease Immunochip Consortium, Rheumatoid Arthritis Consortium International for Immunochip (RACI),International Scleroderma Group,Type 1 Diabetes Genetics Consortium; Mayes MD11; Raychaudhuri S; Rich SS6, Wijmenga C; Martín J, Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations., Genome Medicine, 2018, Vol. 10: 97-, ARTÍCULO, Id:737400

-González-Serna D; Carmona EG; Ortego-Centeno N; Simeón CP; Solans R; Hernández-Rodríguez J; Tolosa C; Castañeda S; Narváez J; Martinez-Valle F; European GCA Consortium; European Scleroderma Group; Witte T; Neumann T; Holle J; Beretta L; Boiardi L; Emmi G; Cimmino MA; Vaglio A; Herrick AL; Denton CP; Salvarani C; Cid MC; Morgan AW; Fonseca C; González-Gay MA; Martín J; Márquez A., A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility., PLoS ONE, 2018, Vol. 13: e020934312-e0209343, ARTÍCULO, Id:737351

-Martorana, D.; Márquez, A.; Carmona, F.D.; Bonatti, F.; Adorni, A.; Urban, M.L.; Maritati, F.; Accorsi Buttini, E.; Marvisi, C.; Palmisano, A.; Rossi, G.M.; Trivioli, G.; Fenaroli, P.; Manenti, L.; Nicastro, M.; Incerti, M.; Gianfreda, D.; Bani, S.; Ferretti, S.; Corradi, D.; Alberici, F.; Emmi, G.; Di Scala, G.; Moroni, G.; Percesepe, A.; Scheel, P.J.; Vermeer, E.; van Bommel, E.F.; Martín, J.; Vaglio, A., A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis, Journal of Allergy and Clinical Immunology, 2018, Vol. 142: 1662-1665, ARTÍCULO, Id:734446

-Patel Z; Lu X; Miller D; Forney CR; Lee J; Lynch A; Schroeder C; Parks L; Magnusen AF; Chen X; Pujato M; Maddox A; Zoller EE; Namjou B; Brunner HI; Henrickson M; Huggins JL; Williams AH; Ziegler JT; Comeau ME; Marion MC; Glenn SB; Adler A; Shen N; Nath SK; Stevens AM; Freedman BI; Pons-Estel BA; Tsao BP; acob CO; Kamen DL; Brown EE; Gilkeson GS; Alarcón GS; Martin J; Reveille JD, Anaya JM; James JA; Sivils KL; Criswell LA; Vilá LM; Petri M; Scofield RH; Kimberly RP; Edberg JC; Ramsey-Goldman R; Bang SY; Lee HS; Bae SC; Boackle SA; Cunninghame Graham D; Vyse TJ; Merrill JT; Niewold TB; Ainsworth HC; Silverman ED; Weisman MH; Wallace DJ; Raj P; Guthridge JM; Gaffney PM; Kelly JA; Alarcón-Riquelme ME; Langefeld CD; Wakeland EK; Kaufman KM; Weirauch MT; Harley JB; Kottyan LC, A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus., Human Molecular Genetics, 2018, Vol. 27: 2392-2404, ARTÍCULO, Id:731690

-Kuiper JJW; Setten J; Devall M; Cretu-Stancu M; Hiddingh S; Ophoff RA; Missotten TOAR; Velthoven M; Den Hollander AI; Hoyng CB; James E; Reeves E; Cordero-Coma M; Fonollosa A; Adán A; Martín J; Koeleman BPC; Boer JH; Pulit SL; Márquez A; Radstake TRDJ, Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis., Human Molecular Genetics, 2018, Vol. 27: 4333-4343, ARTÍCULO, Id:731682

-Carmona FD; Martín J, The potential of PTPN22 as a therapeutic target for rheumatoid arthritis., Expert Opinion on Therapeutic Targets, 2018, Vol. 22: 879-891, ARTÍCULO, Id:731678

-Zaid Y; Senhaji N; Bakhtaoui FZ; Serrano A; Serbati N; Karkouri M; Badre W; Oudghiri M; Martin J; Nadifi S, The PTPN22 C1858T (R620W) functional polymorphism in inflammatory bowel disease., BMC Research Notes, 2018, Vol. 1: 78311-783, ARTÍCULO, Id:731568

-Westra, H.J.; Martínez-Bonet, M.; Onengut-Gumuscu, S.; Lee, A.; Luo, Y.; Teslovich, N.; Worthington, J.; Martin, J.; Huizinga, T.; Klareskog, L.; Rantapaa-Dahlqvist, S.; Chen, W.M.; Quinlan, A.; Todd, J.A.; Eyre, S.; Nigrovic, P.A.; Gregersen, P.K.; Rich, S.S.; Raychaudhuri, S., Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes, Nature Genetics, 2018, Vol. 50: 1366-1374, CARTA AL EDITOR, Id:728568

-González-Serna, D.; Ortiz-Fernández, L.; Vargas, S.; García, A.; Raya, E.; Fernández-Gutierrez, B.; López-Longo, F.J.; Balsa, A.; González-Álvaro, I.; Narvaez, J.; Gómez-Vaquero, C.; Sabio, J.M.; García-Portales, R.; González-Escribano, M.F.; Tolosa, C.; Carreira, P.; Kiemeney, L.; Coenen, M.J.H.; Witte, T.; Schneider, M.; González-Gay, M.Á.; Martín, J., Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus, Scientific Reports, 2018, Vol. 8: 1-8195, ARTÍCULO, Id:727197

-Dritsoula, A.; Papaioannou, I.; Guerra, S.G.; Fonseca, C.; Martin, J.; Herrick, A.L.; Abraham, D.J.; Denton, C.P.; Ponticos, M., Molecular Basis for Dysregulated Activation of NKX2-5 in the Vascular Remodeling of Systemic Sclerosis, Arthritis and Rheumatology, 2018, Vol. 70: 920-931, ARTÍCULO, Id:727176

-Lopez-Rodriguez, R.; Perez-Pampin, E.; Marquez, A.; Blanco, F.J.; Joven, B.; Carreira, P.; Ferrer, M.A.; Caliz, R.; Valor, L.; Narvaez, J.; Cañete, J.D.; Del Carmen Ordoñez, M.; Manrique-Arija, S.; Vasilopoulos, Y.; Balsa, A.; Pascual-Salcedo, D.; Moreno-Ramos, M.J.; Alegre-Sancho, J.J.; Navarro-Sarabia, F.; Moreira, V.; Garcia-Portales, R.; Raya, E.; Magro-Checa, C.; Martin, J.; Gomez-Reino, J.J.; Gonzalez, A., Validation study of genetic biomarkers of response to TNF inhibitors in rheumatoid arthritis, PLoS ONE, 2018, Vol. 13: 5-e0196793, ARTÍCULO, Id:727100

-Ortiz-Fernández, L.; Carmona, F.D.; López-Mejías, R.; González-Escribano, M.F.; Lyons, P.A.; Morgan, A.W.; Sawalha, A.H.; Smith, K.G.C.; González-Gay, M.A.; Martín, J., Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis, Annals of the Rheumatic Diseases, 2018, Vol. 77: 589-595, ARTÍCULO, Id:716552

-Moreno-Moral, A.; Bagnati, M.; Koturan, S.; Ko, J.H.; Fonseca, C.; Harmston, N.; Game, L.; Martin, J.; Ong, V.; Abraham, D.J.; Denton, C.P.; Behmoaras, J.; Petretto, E., Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk, Annals of the Rheumatic Diseases, 2018, Vol. 77: 596-601, ARTÍCULO, Id:716551

-López-Mejías, R.; Castañeda, S.; Genre, F.; Remuzgo-Martínez, S.; Carmona, F.D.; Llorca, J.; Blanco, R.; Martín, J.; González-Gay, M.A., Genetics of immunoglobulin-A vasculitis (Henoch-Schönlein purpura): An updated review, Autoimmunity Reviews, 2018, Vol. 17: 301-315, ARTÍCULO DE REVISIÓN, Id:715794

-Wadelius M; Eriksson N; Kreutz R; Bondon-Guitton E; Ibañez L; Carvajal A; Lucena MI; Sancho Ponce E; Molokhia M; Martin J; Axelsson T; Kohnke H; Yue QY; Magnusson PKE; Bengtsson M; Hallberg P; EuDAC, Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus, CLINICAL PHARMACOLOGY and THERAPEUTICS, 2018, Vol. 103: 843-853, ARTÍCULO, Id:697875

-Perea, F.; Sánchez-Palencia, A.; Gómez-Morales, M.; Bernal, M.; Concha, Á.; García, M.M.; González-Ramírez, A.R.; Kerick, M.; Martin, J.; Garrido, F.; Ruiz-Cabello, F.; Aptsiauri, N., HLA class I loss and PD-L1 expression in lung cancer: Impact on T-cell infiltration and immune escape, Oncotarget, 2018, Vol. 9: 4120-4133, ARTÍCULO, Id:694700

-Daniel, A.L.R.; Acosta-Herrera, M.; Carmona, F.D.; Dolade, N.; Vargas, S.; Echeverría, L.E.; González, C.I.; Martin, J., Comprehensive analysis of three TYK2 gene variants in the susceptibility to Chagas disease infection and cardiomyopathy, PLoS ONE, 2018, Vol. 13: 1-e0190591, ARTÍCULO, Id:694675

-Gorlova, O.Y.; Li, Y.; Gorlov, I.; Ying, J.; Chen, W.V.; Assassi, S.; Reveille, J.D.; Arnett, F.C.; Zhou, X.; Bossini-Castillo, L.; Lopez-Isac, E.; Acosta-Herrera, M.; Gregersen, P.K.; Lee, A.T.; Steen, V.D.; Fessler, B.J.; Khanna, D.; Schiopu, E.; Silver, R.M.; Molitor, J.A.; Furst, D.E.; Kafaja, S.; Simms, R.W.; Lafyatis, R.A.; Carreira, P.; Simeon, C.P.; Castellvi, I.; Beltran, E.; Ortego, N.; Amos, C.I.; Martin, J.; Mayes, M.D., Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations, PLoS ONE, 2018, Vol. 13: 1-e0189498, ARTÍCULO, Id:694652

-María, C.R.; Carrillo-Ávila, J.A.; Jacqueline, S.R.V.; Emilio, G.J.; Sofia, V.; Javier, M.; Blanca, R.M., Genetic association analysis of vitamin D receptor gene polymorphisms and obesity-related phenotypes, Gene, 2018, Vol. 640: 51-56, ARTÍCULO, Id:688667

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