TY - JOUR AU - Parodis, Ioannis AU - Lindblom, Julius AU - Barturen, Guillermo AU - Ortega-Castro, Rafaela AU - Cervera, Ricard AU - Pers, Jacques-Olivier AU - Genre, Fernanda AU - Hiepe, Falk AU - Gerosa, Maria AU - Kovács, László AU - De Langhe, Ellen AU - Piantoni, Silvia AU - Stummvoll, Georg AU - Vasconcelos, Carlos AU - Vigone, Barbara AU - Witte, Torsten AU - Alarcón-Riquelme, Marta E AU - Beretta, Lorenzo ED - Pers, Jacques-Olivier / Collaborator ED - Saraux, Alain / Collaborator ED - Devauchelle-Pensec, Valérie / Collaborator ED - Jousse-Joulin, Sandrine / Collaborator ED - Lauwerys, Bernard / Collaborator ED - Ducreux, Julie / Collaborator ED - Maudoux, Anne-Lise / Collaborator ED - Tavares, Ana / Collaborator ED - Neves, Esmeralda / Collaborator ED - Faria, Raquel / Collaborator ED - Brandão, Mariana / Collaborator ED - Campar, Ana / Collaborator ED - Marinho, António / Collaborator ED - Farinha, Fátima / Collaborator ED - Almeida, Isabe / Collaborator ED - Gonzalez-Gay Mantecón, Miguel Angel / Collaborator ED - Alonso, Ricardo Blanco / Collaborator ED - Martínez, Alfonso Corrales / Collaborator ED - Rodríguez-Pintó, Ignasi / Collaborator ED - Espinosa, Gerard / Collaborator ED - Lories, Rik / Collaborator ED - Hunzelmann, Nicolas / Collaborator ED - Belz, Doreen / Collaborator ED - Baerlecken, Niklas / Collaborator ED - Zauner, Michael / Collaborator ED - Lehner, Michaela / Collaborator ED - Collantes, Eduardo / Collaborator ED - Angeles Aguirre-Zamorano, M A / Collaborator ED - Escudero-Contreras, Alejandro / Collaborator ED - Castro-Villegas, Ma Carmen / Collaborator ED - Ortego, Norberto / Collaborator ED - Fernández Roldán, María Concepción / Collaborator ED - Raya, Enrique / Collaborator ED - Moleón, Inmaculada Jiménez / Collaborator ED - Ramon, Enrique de / Collaborator ED - Quintero, Isabel Díaz / Collaborator ED - Meroni, Pier Luigi / Collaborator ED - Schioppo, Tommaso / Collaborator ED - Artusi, Carolina / Collaborator ED - Chizzolini, Carlo / Collaborator ED - Zuber, Aleksandra / Collaborator ED - Wynar, Donatienne / Collaborator ED - Balog, Attila / Collaborator ED - Deák, Magdolna / Collaborator ED - Bocskai, Márta / Collaborator ED - Dulic, Sonja / Collaborator ED - Kádár, Gabriella / Collaborator ED - Thiel, Silvia / Collaborator ED - Maresca, Manuel Rodriguez / Collaborator ED - López-Berrio, Antonio / Collaborator ED - Aguilar-Quesada, Rocío / Collaborator ED - Navarro-Linares, Héctor / Collaborator TI - Molecular characterisation of lupus low disease activity state (LLDAS) and DORIS remission by whole-blood transcriptome-based pathways in a pan-European systemic lupus erythematosus cohort JF - ANNALS OF THE RHEUMATIC DISEASES J2 - ANN RHEUM DIS PY - 2024 SN - 0003-4967 DO - 10.1136/ard-2023-224795 UR - https://m2.mtmt.hu/api/publication/34656799 ID - 34656799 N1 - Export Date: 18 March 2024 CODEN: ARDIA Correspondence Address: Parodis, I.; Division of Rheumatology, Sweden; email: ioannis.parodis@ki.se Funding details: 2021-00436 Funding details: 2021-26, FoUI-955483 Funding details: Deutsche Forschungsgemeinschaft, DFG, 390874280, EXC 2155 Funding details: Karolinska Institutet, KI Funding details: Svenska Läkaresällskapet, SLS, OLL-974804, SLS-974449 Funding details: Stiftelsen Konung Gustaf V:s 80-årsfond, FAI-2020-0741 Funding details: Reumatikerförbundet, R-969696 Funding details: Innovative Medicines Initiative, IMI, 115565, 831434 Funding text 1: IP has received grants from the Swedish Rheumatism Association (R-969696), King Gustaf V’s 80-year Foundation (FAI-2020-0741), Swedish Society of Medicine (SLS-974449), Nyckelfonden (OLL-974804), Professor Nanna Svartz Foundation (2021-00436), Ulla and Roland Gustafsson Foundation (2021-26), Region Stockholm (FoUI-955483), and Karolinska Institute. This work was supported by EU/EFPIA/Innovative Medicines Initiative (IMI) Joint Undertaking (JU) PRECISESADS grant no. 115565 and IMI 2 JU (now HIH) 3TR grant no. 831434, and Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy, EXC 2155, project no. 390874280. AB - To unveil biological milieus underlying low disease activity (LDA) and remission versus active systemic lupus erythematosus (SLE).We determined differentially expressed pathways (DEPs) in SLE patients from the PRECISESADS project (NTC02890121) stratified into patients fulfilling and not fulfilling the criteria of (1) Lupus LDA State (LLDAS), (2) Definitions of Remission in SLE remission, and (3) LLDAS exclusive of remission.We analysed data from 321 patients; 40.8% were in LLDAS, and 17.4% in DORIS remission. After exclusion of patients in remission, 28.3% were in LLDAS. Overall, 604 pathways differed significantly in LLDAS versus non-LLDAS patients with an false-discovery rate-corrected p (q)<0.05 and a robust effect size (dr)≥0.36. Accordingly, 288 pathways differed significantly between DORIS remitters and non-remitters (q<0.05 and dr≥0.36). DEPs yielded distinct molecular clusters characterised by differential serological, musculoskeletal, and renal activity. Analysis of partially overlapping samples showed no DEPs between LLDAS and DORIS remission. Drug repurposing potentiality for treating SLE was unveiled, as were important pathways underlying active SLE whose modulation could aid attainment of LLDAS/remission, including toll-like receptor (TLR) cascades, Bruton tyrosine kinase (BTK) activity, the cytotoxic T lymphocyte antigen 4 (CTLA-4)-related inhibitory signalling, and the nucleotide-binding oligomerization domain leucine-rich repeat-containing protein 3 (NLRP3) inflammasome pathway.We demonstrated for the first time molecular signalling pathways distinguishing LLDAS/remission from active SLE. LLDAS/remission was associated with reversal of biological processes related to SLE pathogenesis and specific clinical manifestations. DEP clustering by remission better grouped patients compared with LLDAS, substantiating remission as the ultimate treatment goal in SLE; however, the lack of substantial pathway differentiation between the two states justifies LLDAS as an acceptable goal from a biological perspective. LA - English DB - MTMT ER - TY - JOUR AU - Ladóczky-Hulló, Daniella AU - Bocskai, Márta AU - Kovács, László TI - Differenciáldiagnosztikai kihívás nyelőcső motilitási zavar kapcsán JF - MAGYAR REUMATOLÓGIA J2 - MAGYAR REUMATOL VL - 64 PY - 2023 IS - 3 SP - 172 EP - 173 PG - 2 SN - 0139-4495 UR - https://m2.mtmt.hu/api/publication/34149961 ID - 34149961 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Kerick, Martin AU - Acosta-Herrera, Marialbert AU - Simeón-Aznar, Carmen Pilar AU - Callejas, José Luis AU - Assassi, Shervin AU - Proudman, Susanna M AU - Nikpour, Mandana AU - Hunzelmann, Nicolas AU - Moroncini, Gianluca AU - de Vries-Bouwstra, Jeska K AU - Orozco, Gisela AU - Barton, Anne AU - Herrick, Ariane L AU - Terao, Chikashi AU - Allanore, Yannick AU - Fonseca, Carmen AU - Alarcón-Riquelme, Marta Eugenia AU - Radstake, Timothy R D J AU - Beretta, Lorenzo AU - Denton, Christopher P AU - Mayes, Maureen D AU - Martin, Javier ED - Carreira, P / Collaborator ED - Castellvi, I / Collaborator ED - Ríos, R / Collaborator ED - Portales, R García / Collaborator ED - Fernández-Nebro, A / Collaborator ED - García-Hernández, F J / Collaborator ED - Aguirre, M A / Collaborator ED - Fernández-Gutiérrez, B / Collaborator ED - Rodríguez-Rodríguez, L / Collaborator ED - de la Peña, P García / Collaborator ED - Vicente, E / Collaborator ED - Andreu, J L / Collaborator ED - de Castro, M Fernández / Collaborator ED - López-Longo, F J / Collaborator ED - Fonollosa, V / Collaborator ED - Guillén, A / Collaborator ED - Espinosa, G / Collaborator ED - Tolosa, C / Collaborator ED - Pros, A / Collaborator ED - Beltrán, E / Collaborator ED - Carballeira, M Rodríguez / Collaborator ED - Narváez, F J / Collaborator ED - Rivas, M Rubio / Collaborator ED - Ortiz-Santamaría, V / Collaborator ED - Madroñero, A B / Collaborator ED - González-Gay, M A / Collaborator ED - Díaz, B / Collaborator ED - Trapiella, L / Collaborator ED - Egurbide, M V / Collaborator ED - Fanlo-Mateo, P / Collaborator ED - Saez-Comet, L / Collaborator ED - Díaz, F / Collaborator ED - Roman-Ivorra, J A / Collaborator ED - Sancho, J J Alegre / Collaborator ED - Freire, M / Collaborator ED - Garcia, F J Blanco / Collaborator ED - Oreiro, N / Collaborator ED - Witte, T / Collaborator ED - Kreuter, A / Collaborator ED - Riemekasten, G / Collaborator ED - Airò, P / Collaborator ED - Magro, C / Collaborator ED - Voskuyl, A E / Collaborator ED - Vonk, M C / Collaborator ED - Hesselstrand, R / Collaborator ED - Nordin, A / Collaborator ED - Lunardi, C / Collaborator ED - Gabrielli, A / Collaborator ED - Hoffmann-Vold, A / Collaborator ED - Distler, J H W / Collaborator ED - Padyukov, L / Collaborator ED - Koeleman, B P C / Collaborator ED - Stevens, W / Collaborator ED - Zochling, J / Collaborator ED - Sahhar, J / Collaborator ED - Roddy, J / Collaborator ED - Nash, P / Collaborator ED - Tymms, K / Collaborator ED - Rischmueller, M / Collaborator ED - Lester, S / Collaborator ED - Vigone, Barbara / Collaborator ED - Pers, Jacques-Olivier / Collaborator ED - Saraux, Alain / Collaborator ED - Devauchelle-Pensec, Valérie / Collaborator ED - Cornec, Divi / Collaborator ED - Jousse-Joulin, Sandrine / Collaborator ED - Lauwerys, Bernard / Collaborator ED - Ducreux, Julie / Collaborator ED - Maudoux, Anne-Lise / Collaborator ED - Vasconcelos, Carlos / Collaborator ED - Tavares, Ana / Collaborator ED - Neves, Esmeralda / Collaborator ED - Faria, Raquel / Collaborator ED - Brandão, Mariana / Collaborator ED - Campar, Ana / Collaborator ED - Marinho, António / Collaborator ED - Farinha, Fátima / Collaborator ED - Almeida, Isabel / Collaborator ED - Mantecón, Miguel Angel Gonzalez-Gay / Collaborator ED - Alonso, Ricardo Blanco / Collaborator ED - Martínez, Alfonso Corrales / Collaborator ED - Cervera, Ricard / Collaborator ED - Rodríguez-Pintó, Ignasi / Collaborator ED - Espinosa, Gerard / Collaborator ED - Lories, Rik / Collaborator ED - De Langhe, Ellen / Collaborator ED - Belz, Doreen / Collaborator ED - Witte, Torsten / Collaborator ED - Baerlecken, Niklas / Collaborator ED - Stummvoll, Georg / Collaborator ED - Zauner, Michael / Collaborator ED - Lehner, Michaela / Collaborator ED - Collantes, Eduardo / Collaborator ED - Ortega-Castro, Rafaela / Collaborator ED - Aguirre-Zamorano, Ma Angeles / Collaborator ED - Escudero-Contreras, Alejandro / Collaborator ED - Castro-Villegas, Ma Carmen / Collaborator ED - Roldán, María Concepción Fernández / Collaborator ED - Ortego, Norberto / Collaborator ED - Raya, Enrique / Collaborator ED - Moleón, Inmaculada Jiménez / Collaborator ED - de Ramon, Enrique / Collaborator ED - Quintero, Isabel Díaz / Collaborator ED - Meroni, Pier Luigi / Collaborator ED - Gerosa, Maria / Collaborator ED - Schioppo, Tommaso / Collaborator ED - Artusi, Carolina / Collaborator ED - Chizzolini, Carlo / Collaborator ED - Zuber, Aleksandra / Collaborator ED - Wynar, Donatienne / Collaborator ED - Kovács, László / Collaborator ED - Balog, Attila / Collaborator ED - Deák, Magdolna / Collaborator ED - Bocskai, Márta / Collaborator ED - Dulic, Sonja / Collaborator ED - Kádár, Gabriella / Collaborator ED - Hiepe, Falk / Collaborator ED - Gerl, Velia / Collaborator ED - Thiel, Silvia / Collaborator ED - Maresca, Manuel Rodriguez / Collaborator ED - López-Berrio, Antonio / Collaborator ED - Aguilar-Quesada, Rocío / Collaborator ED - Navarro-Linares, Héctor / Collaborator TI - Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis JF - NPJ GENOMIC MEDICINE J2 - NPJ GENOM MED VL - 7 PY - 2022 IS - 1 PG - 12 SN - 2056-7944 DO - 10.1038/s41525-022-00327-8 UR - https://m2.mtmt.hu/api/publication/34110982 ID - 34110982 N1 - Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain Systemic Autoimmune Disease Unit, Hospital Clínico San Cecilio, Instituto de Investigación Biosanitaria Ibs. GRANADA, Granada, Spain Department of Internal Medicine, Valle de Hebrón Hospital, Barcelona, Spain Department of Internal Medicine, Hospital San Cecilio, Granada, Spain Department of Rheumatology, The University of Texas Health Science Center at Houston, Houston, TX, United States Rheumatology Unit, Royal Adelaide Hospital and University of Adelaide, Adelaide, SA, Australia The University of Melbourne at St. Vincent’s Hospital, Melbourne, VIC, Australia Department of Dermatology, University of Cologne, Cologne, Germany Department of Clinical and Molecular Science, Università Politecnica delle Marche e Ospedali Riuniti, Ancona, Italy Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands Center for Genetics and Genomics Versus Arthritis, Division of Musculoskeletal and Dermatological Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom NIHR Manchester Biomedical Research Center, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, United Kingdom Division of Musculoskeletal and Dermatological Sciences, The University of Manchester, Northern care Alliance NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, Yokohama, Japan Department of Rheumatology A, Hospital Cochin, Île-de-France, Paris, France Center for Rheumatology, Royal Free and University College Medical School, London, United Kingdom Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Granada, Spain Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy Department of Rheumatology, 12 de Octubre University Hospital, Madrid, Spain Department of Rheumatology, Santa Creu i Sant Pau University Hospital, Barcelona, Spain Department of Rheumatology, Virgen de la Victoria Hospital, Málaga, Spain Department of Rheumatology, Carlos Haya Hospital, Málaga, Spain Department of Internal Medicine, Virgen del Rocío Hospital, Sevilla, Spain Department of Rheumatology, Reina Sofía/IMIBIC Hospital, Córdoba, Spain Department of Rheumatology, San Carlos Clinic Hospital, Madrid, Spain Department of Rheumatology, Madrid Norte Sanchinarro Hospital, Madrid, Spain Department of Rheumatology, La Princesa Hospital, Madrid, Spain Department of Rheumatology, Puerta de Hierro Hospital-Majadahonda, Madrid, Spain Department of Rheumatology, Gregorio Marañón University Hospital, Madrid, Spain Department of Internal Medicine, Clinic Hospital, Barcelona, Spain Department of Internal Medicine, Parc Tauli Hospital, Sabadell, Spain Department of Rheumatology, Hospital Del Mar, Barcelona, Spain Department of Internal Medicine, Hospital Universitari Mútua Terrasa, Barcelona, Spain Department of Rheumatology, Bellvitge University Hospital, Barcelona, Spain Department of Rheumatology, Granollers Hospital, Granollers, Spain Department of Internal Medicine, Hospital General San Jorge, Huesca, Spain Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, DIVAL, University of Cantabria, Santander, Spain Department of Internal Medicine, Hospital Central de Asturias, Oviedo, Spain Department of Internal Medicine, Hospital Universitario Cruces, Barakaldo, Spain Department of Internal Medicine, Hospital Virgen del Camino, Pamplona, Spain Department of Internal Medicine, Hospital Universitario Miguel Servet, Zaragoza, Spain Department of Rheumatology, Hospital Universitario de Canarias, Tenerife, Spain Department of Rheumatology, Hospital Universitari i Politecnic La Fe, Valencia, Spain Department of Rheumatology, Hospital Universitari Doctor Peset, Valencia, Spain Department of Internal Medicine, Thrombosis and Vasculitis Unit, Complexo Hospitalario Universitario de Vigo, Vigo, Spain Department of Rheumatology, INIBIC-Hospital Universitario A Coruña, La Coruña, Spain Department of Clinical Immunology, Hannover Medical School, Hannover, Germany Department of Dermatology, Josefs-Hospital, Ruhr University Bochum, Bochum, Germany Clinic of Rheumatology, University of Lübeck, Lübeck, Germany Service of Rheumatology and Clinic Immunology Spedali Civili, Brescia, Italy Department of Rheumatology, VU University Medical Center, Amsterdam, Netherlands Department of Rheumatology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands Department of Rheumatology, Lund University, Lund, Sweden Division of Rheumatology, Department of Medicine, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden Department of Medicine, Università degli Studi di Verona, Verona, Italy Istituto di Clinica Medica Generale, Ematologia ed Immunologia Clinica, Università Politecnica delle Marche, Ancona, Italy Department of Rheumatology, Oslo University Hospital, Oslo, Norway Department of Internal Medicine 3, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, Australia Department Rheumatology, Monash Medical Centre, Melbourne, VIC, Australia Rheumatology, Royal Perth Hospital, Perth, WA, Australia Research Unit, Sunshine Coast Rheumatology, Maroochydore, QLD, Australia Canberra Rheumatology, Canberra, ACT, Australia Department Rheumatology, The Queen Elizabeth Hospital, Woodville, SA, Australia Centre Hospitalier Universitaire de Brest, Hospital de la Cavale Blanche, Brest, France Pôle de pathologies rhumatismales systémiques et inflammatoires, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium Centro Hospitalar do Porto, Porto, Portugal Katholieke Universiteit Leuven, Leuven, Belgium Medical University Vienna, Vienna, Austria Servicio Andaluz de Salud, Hospital Universitario Reina Sofía Córdoba, Córdoba, Spain Servicio Andaluz de Salud, Complejo hospitalario Universitario de Granada (Hospital Universitario San Cecilio), Granada, Spain Department of Medicine, University of Granada, Granada, Spain Servicio Andaluz de Salud, Complejo hospitalario Universitario de Granada (Hospital Virgen de las Nieves), Granada, Spain Servicio Andaluz de Salud, Hospital Regional Universitario de Málaga, Málaga, Spain Università degli studi di Milano, Milan, Italy Hospitaux Universitaires de Genève, Genève, Switzerland University of Szeged, Szeged, Hungary Charite, Berlin, Germany Andalusian Public Health System Biobank, Granada, Spain Cited By :3 Export Date: 8 February 2024 Correspondence Address: Kerick, M.; Department of Cell Biology and Immunology, Spain; email: mkerick@ipb.csic.es Correspondence Address: Acosta-Herrera, M.; Department of Cell Biology and Immunology, Spain; email: m.acostaherrera@ipb.csic.es Correspondence Address: Martin, J.; Department of Cell Biology and Immunology, Spain; email: javiermartin@ipb.csic.es Chemicals/CAS: complement component C4a, 80295-49-4; complement component C4b, 80295-50-7 AB - Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations from CN parity of C4A and C4B augmented risk. The protection contributed per copy of C4A and C4B differed by sex. Stronger protection was afforded by C4A in men and by C4B in women. C4 CN correlated well with its gene expression and serum protein levels, and less C4 was detected for both in SSc patients. Conditioned analysis suggests that C4 genetics strongly contributes to the SSc association within the major histocompatibility complex locus and highlights classical alleles and amino acid variants of HLA-DRB1 and HLA-DPB1 as C4-independent signals. LA - English DB - MTMT ER - TY - BOOK AU - Kovács, László AU - Burcsár, Szilárd AU - Dobi, Diána AU - Balog, Attila AU - Ladóczky-Hulló, Daniella AU - Honfi, Dániel György AU - Bocskai, Márta AU - Kádár, Gabriella AU - Sümegi, Viktória AU - Varga, Borisz AU - Hemelein, Rita Adrienn AU - Besenyi, Zsuzsanna AU - Legány, Nóra ED - Kovács, László TI - Reumatológia - Egyetemi jegyzet Reumatológia tantárgyhoz. ETSZK Gyógytornász (BSc) szakirány 2022 TS - ETSZK Gyógytornász (BSc) szakirány 2022 PB - Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Reumatológiai és Immunológiai Klinika CY - Szeged PY - 2022 SP - 679 SN - 9789633068878 UR - https://m2.mtmt.hu/api/publication/33138272 ID - 33138272 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Foulquier, Nathan AU - Le Dantec, Christelle AU - Bettacchioli, Eleonore AU - Jamin, Christophe AU - Alarcón-Riquelme, Marta E AU - Pers, Jacques-Olivier ED - Beretta, Lorenzo / Collaborator ED - Vigone, Barbara / Collaborator ED - Pers, Jacques-Olivier / Collaborator ED - Saraux, Alain / Collaborator ED - Devauchelle-Pensec, Valérie / Collaborator ED - Cornec, Divi / Collaborator ED - Jousse-Joulin, Sandrine / Collaborator ED - Lauwerys, Bernard / Collaborator ED - Ducreux, Julie / Collaborator ED - Maudoux, Anne-Lise / Collaborator ED - Vasconcelos, Carlos / Collaborator ED - Tavares, Ana / Collaborator ED - Neves, Esmeralda / Collaborator ED - Faria, Raquel / Collaborator ED - Brandão, Mariana / Collaborator ED - Campar, Ana / Collaborator ED - Marinho, António / Collaborator ED - Farinha, Fátima / Collaborator ED - Almeida, Isabel / Collaborator ED - González-Gay, Miguel Ángel / Collaborator ED - Alonso, Ricardo Blanco / Collaborator ED - Martínez, Alfonso Corrales / Collaborator ED - Cervera, Ricard / Collaborator ED - Rodríguez-Pintó, Ignasi / Collaborator ED - Espinosa, Gerard / Collaborator ED - Lories, Rik / Collaborator ED - De Langhe, Ellen / Collaborator ED - Hunzelmann, Nicolas / Collaborator ED - Belz, Doreen / Collaborator ED - Witte, Torsten / Collaborator ED - Baerlecken, Niklas / Collaborator ED - Stummvoll, Georg / Collaborator ED - Zauner, Michael / Collaborator ED - Lehner, Michaela / Collaborator ED - Collantes, Eduardo / Collaborator ED - Ortega-Castro, Rafaela / Collaborator ED - Aguirre-Zamorano, Mª Angeles / Collaborator ED - Escudero-Contreras, Alejandro / Collaborator ED - Castro-Villegas, Mª Carmen / Collaborator ED - Gómez, Yolanda Jiménez / Collaborator ED - Ortego, Norberto / Collaborator ED - Roldán, María Concepción Fernández / Collaborator ED - Raya, Enrique / Collaborator ED - Moleón, Inmaculada Jiménez / Collaborator ED - de Ramon, Enrique / Collaborator ED - Quintero, Isabel Díaz / Collaborator ED - Meroni, Pier Luigi / Collaborator ED - Gerosa, Maria / Collaborator ED - Schioppo, Tommaso / Collaborator ED - Artusi, Carolina / Collaborator ED - Chizzolini, Carlo / Collaborator ED - Dufour, Aleksandra / Collaborator ED - Wynar, Donatienne / Collaborator ED - Kovács, László / Collaborator ED - Balog, Attila / Collaborator ED - Deák, Magdolna / Collaborator ED - Bocskai, Márta / Collaborator ED - Dulic, Sonja / Collaborator ED - Kádár, Gabriella / Collaborator ED - Hiepe, Falk / Collaborator ED - Gerl, Velia / Collaborator ED - Thiel, Silvia / Collaborator ED - Maresca, Manuel Rodriguez / Collaborator ED - López-Berrio, Antonio / Collaborator ED - Aguilar-Quesada, Rocío / Collaborator ED - Navarro-Linares, Héctor / Collaborator ED - Ioannou, Yiannis / Collaborator ED - Chamberlain, Chris / Collaborator ED - Marovac, Jacqueline / Collaborator ED - Riquelme, Marta Alarcón / Collaborator ED - Anjos, Tania Gomes / Collaborator ED - Jamin, Christophe / Collaborator ED - Marañón, Concepción / Collaborator ED - Le Lann, Lucas / Collaborator ED - Simon, Quentin / Collaborator ED - Rouvière, Bénédicte / Collaborator ED - Varela, Nieves / Collaborator ED - Muchmore, Brian / Collaborator ED - Dufour, Aleksandra / Collaborator ED - Alvarez, Montserrat / Collaborator ED - Chizzolini, Carlo / Collaborator ED - Cremer, Jonathan / Collaborator ED - De Langhe, Ellen / Collaborator ED - Barbarroja, Nuria / Collaborator ED - Lopez-Pedrera, Chary / Collaborator ED - Gerl, Velia / Collaborator ED - Khodadadi, Laleh / Collaborator ED - Cheng, Qingyu / Collaborator ED - Buttgereit, Anne / Collaborator ED - Makowska, Zuzanna / Collaborator ED - De Groof, Aurélie / Collaborator ED - Ducreux, Julie / Collaborator ED - Trombetta, Elena / Collaborator ED - Li, Tianlu / Collaborator ED - Alvarez-Errico, Damiana / Collaborator ED - Witte, Torsten / Collaborator ED - Kniesch, Katja / Collaborator ED - Azevedo, Nancy / Collaborator ED - Neves, Esmeralda / Collaborator ED - Hernandez-Fuentes, Maria / Collaborator ED - Jouve, Pierre-Emmanuel / Collaborator ED - Pers, Jacques-Olivier / Collaborator TI - Machine learning identifies a common signature for anti-SSA/Ro60 antibody expression across autoimmune diseases JF - ARTHRITIS & RHEUMATOLOGY J2 - ARTHRITIS RHEUMATOL VL - 74 PY - 2022 IS - 10 SP - 1706 EP - 1719 PG - 14 SN - 2326-5191 DO - 10.1002/art.42243 UR - https://m2.mtmt.hu/api/publication/32869486 ID - 32869486 N1 - Funding Agency and Grant Number: Innovative Medicines Initiative Joint Undertaking [115565]; European Union; Agence Nationale de la Recherche Investissement d'Avenir program [ANR-11-LABX-0016-001] Funding text: Supported by the Innovative Medicines Initiative Joint Undertaking (grant 115565; PRECISE Systemic Autoimmune Diseases [PRECISESADS] study). The PRECISESADS study is supported by the European Union Seventh Framework Programme (FP7/2007-2013) and in-kind contribution from companies in the European Federation of Pharmaceutical Industries and Associations. The B Lymphocytes, Autoimmunity and Immunotherapies Laboratory is supported by the Agence Nationale de la Recherche Investissement d'Avenir program (reference no. ANR-11-LABX-0016-001) (Laboratoire d'Excellence IGO). AB - Anti-Ro autoantibodies are among the most frequently detected extractable nuclear antigen autoantibodies, mainly associated with primary Sjögren's syndrome (pSS), systemic lupus erythematosus (SLE) and undifferentiated connective tissue disease (UCTD). Is there a common signature to all patients expressing anti-Ro60 autoantibodies regardless of their disease phenotype?Using high-throughput multi-omics data collected within the cross-sectional cohort from the PRECISESADS IMI project (genetic, epigenomic, transcriptomic, combined with flow cytometric data, multiplexed cytokines, classical serology and clinical data), we assessed by machine learning the integrated molecular profiling of 520 anti-Ro60-positive (anti-Ro60+ ) compared to 511 anti-Ro60-negative (anti-Ro60- ) patients with pSS, SLE and UCTD, and 279 healthy controls (HCs).The selected features for RNA-Seq, DNA methylation and GWAS data allowed a clear separation between anti-Ro60+ and anti-Ro60- patients. The different features selected by machine learning from the anti-Ro60+ patients constitute specific signatures when compared to anti-Ro60- patients and HCs. Remarkably, the transcript z-score of three genes (ATP10A, MX1 and PARP14), presenting an overexpression associated with a hypomethylation and genetic variation, and independently identified by the Boruta algorithm, was clearly higher in anti-Ro60+ patients compared to anti-Ro60- patients in all the diseases. We demonstrate that these signatures, enriched in interferon stimulated genes, were also found in anti-Ro60+ patients with rheumatoid arthritis and systemic sclerosis and remained stable over time and not influenced by treatment.Anti-Ro60+ patients present a specific inflammatory signature regardless of their disease suggesting that a dual therapeutic approach targeting both Ro-associated RNAs and anti-Ro60 autoantibodies should be considered. LA - English DB - MTMT ER - TY - BOOK AU - Kovács, László AU - Bocskai, Márta AU - Ladóczky-Hulló, Daniella AU - Kádár, Gabriella AU - Dobi, Diána AU - Balog, Attila AU - Burcsár, Szilárd ED - Kovács, László TI - Rheumatology - Immunology. University Lecture Notes for Internal Medicine and Rheumatology TS - University Lecture Notes for Internal Medicine and Rheumatology PB - Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Reumatológiai és Immunológiai Klinika CY - Szeged PY - 2022 SP - 527 SN - 9789633068588 UR - https://m2.mtmt.hu/api/publication/32792650 ID - 32792650 LA - English DB - MTMT ER - TY - BOOK AU - Kovács, László AU - Balog, Attila AU - Hemelein, Rita Adrienn AU - Kádár, Gabriella AU - Dobi, Diána AU - Burcsár, Szilárd AU - Bocskai, Márta AU - Ladóczky-Hulló, Daniella AU - Besenyi, Zsuzsanna ED - Kovács, László TI - Reumatológia - Immunológia. Egyetemi jegyzet belgyógyászat és reumatológia tantárgyakhoz TS - Egyetemi jegyzet belgyógyászat és reumatológia tantárgyakhoz PB - Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Reumatológiai és Immunológiai Klinika CY - Szeged PY - 2022 SP - 584 SN - 9789633068557 UR - https://m2.mtmt.hu/api/publication/32792611 ID - 32792611 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Hsu, Vivien M AU - Kozák, Eszter Zita AU - Li, Qiaoli AU - Bocskai, Márta AU - Schlesinger, Naomi AU - Rosenthal, Ann AU - McClure, Scott T AU - Kovács, László AU - Bálint, Bálint László AU - Szamosi, Szilvia AU - Szűcs, Gabriella AU - Carns, Mary AU - Aren, Kathleen AU - Goldberg, Isaac AU - Váradi, András AU - Varga, John TI - Inorganic pyrophosphate is reduced in patients with systemic sclerosis JF - RHEUMATOLOGY (UNITED KINGDOM) J2 - RHEUMATOLOGY VL - 61 PY - 2022 IS - 3 SP - 1158 EP - 1165 PG - 8 SN - 1462-0324 DO - 10.1093/rheumatology/keab508 UR - https://m2.mtmt.hu/api/publication/32076825 ID - 32076825 N1 - 312269 LA - English DB - MTMT ER - TY - JOUR AU - Teruel, M. AU - Barturen, G. AU - Martínez-Bueno, M. AU - Castellini-Pérez, O. AU - Barroso-Gil, M. AU - Povedano, E. AU - Kerick, M. AU - Català-Moll, F. AU - Makowska, Z. AU - Buttgereit, A. AU - Beretta, L. AU - Vigone, B. AU - Pers, J.-O. AU - Saraux, A. AU - Devauchelle-Pensec, V. AU - Cornec, D. AU - Jousse-Joulin, S. AU - Lauwerys, B. AU - Ducreux, J. AU - Maudoux, A.-L. AU - Vasconcelos, C. AU - Tavares, A. AU - Neves, E. AU - Faria, R. AU - Brandão, M. AU - Campar, A. AU - Marinho, A. AU - Farinha, F. AU - Almeida, I. AU - Mantecón, M.A.G.-G. AU - Alonso, R.B. AU - Martínez, A.C. AU - Cervera, R. AU - Rodríguez-Pintó, I. AU - Espinosa, G. AU - Lories, R. AU - De, Langhe E. AU - Hunzelmann, N. AU - Belz, D. AU - Witte, T. AU - Baerlecken, N. AU - Stummvoll, G. AU - Zauner, M. AU - Lehner, M. AU - Collantes, E. AU - Ortega-Castro, R. AU - Aguirre-Zamorano, M.ªA. AU - Escudero-Contreras, A. AU - Castro-Villegas, M.ªC. AU - Ortego, N. AU - Roldán, M.C.F. AU - Raya, E. AU - Moleón, I.J. AU - de, Ramon E. AU - Quintero, I.D. AU - Meroni, P.L. AU - Gerosa, M. AU - Schioppo, T. AU - Artusi, C. AU - Chizzolini, C. AU - Zuber, A. AU - Wynar, D. ED - Kovács, László / Collaborator ED - Balog, Attila / Collaborator ED - Deák, Magdolna / Collaborator ED - Bocskai, Márta / Collaborator ED - Dulic, Sonja / Collaborator ED - Kádár, Gabriella / Collaborator AU - Hiepe, F. AU - Gerl, V. AU - Thiel, S. AU - Maresca, M.R. AU - López-Berrio, A. AU - Aguilar-Quesada, R. AU - Navarro-Linares, H. AU - Alvarez, M. AU - Alvarez‑Errico, D. AU - Azevedo, N. AU - Barbarroja, N. AU - Buttgereit, A. AU - Cheng, Q. AU - Chizzolini, C. AU - Cremer, J. AU - De, Groof A. AU - De, Langhe E. AU - Ducreux, J. AU - Dufour, A. AU - Gerl, V. AU - Hernandez‑Fuentes, M. AU - Khodadadi, L. AU - Kniesch, K. AU - Li, T. AU - Lopez‑Pedrera, C. AU - Makowska, Z. AU - Marañón, C. AU - Muchmore, B. AU - Neves, E. AU - Rouvière, B. AU - Simon, Q. AU - Trombetta, E. AU - Varela, N. AU - Witte, T. AU - Pers, J.-O. AU - Marañón, C. AU - Ballestar, E. AU - Martin, J. AU - Carnero-Montoro, E. AU - Alarcón-Riquelme, M.E. AU - PRECISESADS, Clinical Consortium AU - PRECISESADS, Flow Cytometry Study Group TI - Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature JF - SCIENTIFIC REPORTS J2 - SCI REP VL - 11 PY - 2021 IS - 1 PG - 18 SN - 2045-2322 DO - 10.1038/s41598-021-01324-0 UR - https://m2.mtmt.hu/api/publication/32575652 ID - 32575652 N1 - GENYO, Center for Genomics and Oncological Research Pfizer/University of Granada/Andalusian Regional Government, Granada, 18016, Spain IPBLN-CSIC, Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada, 18016, Spain Epigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Badalona, Barcelona, 08916, Spain IDIBELL, Bellvitge Biomedical Research Institute 08907 L’Hospitalet de Llobregat, Barcelona, Spain Pharmaceuticals Division, Bayer Pharma Aktiengesellschaft, Berlin, Germany Université de Brest, INSERM, Labex IGO, CHU de Brest, Brest, France Institute for Environmental Medicine, Karolinska Institutet, Solna, 171 67, Sweden Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milano, Italy Centre Hospitalier Universitaire de Brest, Hospital de la Cavale Blanche, Brest, France Pôle de pathologies rhumatismales systémiques et inflammatoires, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium Centro Hospitalar do Porto, Porto, Portugal Servicio Cantabro de Salud, Hospital Universitario Marqués de Valdecilla, Santander, Spain Hospital Clinic I Provicia, Institut d’Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain Katholieke Universiteit Leuven, Leuven, Belgium Klinikum der Universitaet zu Koeln, Cologne, Germany Medizinische Hochschule Hannover, Hannover, Germany Medical University Vienna, Vienna, Austria Servicio Andaluz de Salud, Hospital Universitario Reina Sofía Córdoba, Córdoba, Spain Servicio Andaluz de Salud, Complejo hospitalario Universitario de Granada (Hospital Universitario San Cecilio), Granada, Spain Servicio Andaluz de Salud, Complejo hospitalario Universitario de Granada (Hospital Virgen de las Nieves), Granada, Spain Servicio Andaluz de Salud, Hospital Regional Universitario de Málaga, Málaga, Spain Università degli studi di Milano, Milan, Italy Hospitaux Universitaires de Genève, Genève, Switzerland University of Szeged, Szeged, Hungary Charite, Berlin, Germany Andalusian Public Health System Biobank, Granada, Spain Immunology and Allergy, University Hospital and School of Medicine, Geneva, Switzerland Chromatin and Disease Group, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain Serviço de Imunologia EX‑CICAP, Centro Hospitalar e Universitário do Porto, Porto, Portugal IMIBIC, Reina Sofia Hospital, University of Cordoba, Córdoba, Spain Bayer AG, Berlin, Germany Pharmaceuticals Division, Bayer Pharma, Berlin, Germany Department of Rheumatology and Clinical Immunology, Charité University Hospital, Berlin, Germany Department of Microbiology and Immunology, Laboratory of Clinical Immunology, KU Leuven, Leuven, Belgium Pôle de Pathologies Rhumatismales Inflammatoires et Systémiques, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Brussels, Belgium University Hospitals Leuven and Skeletal Biology and Engineering Research Center, KU Leuven, Leuven, Belgium UCB, Slough, United Kingdom Klinik für Immunologie Und Rheumatologie, Medical University Hannover, Hannover, Germany Laboratorio di Analisi Chimico Cliniche e Microbiologia ‑ Servizio di Citofluorimetria, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy GENYO, Center for Genomics and Oncological Research Pfizer/University of Granada/Andalusian Regional Government, Granada, Spain NSERM, UMR1227, CHRU Morvan, Lymphocytes B et Autoimmunité, University of Brest, BP 824, Brest, France Export Date: 6 January 2022 Correspondence Address: Carnero-Montoro, E.; GENYO, Spain; email: elena.carnero@genyo.es Correspondence Address: Alarcón-Riquelme, M.E.; GENYO, Spain; email: marta.alarcon@genyo.es AB - Primary Sjögren’s syndrome (SS) is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The etiology of SS is complex with environmental triggers and genetic factors involved. By conducting an integrated multi-omics study, we confirmed a vast coordinated hypomethylation and overexpression effects in IFN-related genes, what is known as the IFN signature. Stratified and conditional analyses suggest a strong interaction between SS-associated HLA genetic variation and the presence of Anti-Ro/SSA autoantibodies in driving the IFN epigenetic signature and determining SS. We report a novel epigenetic signature characterized by increased DNA methylation levels in a large number of genes enriched in pathways such as collagen metabolism and extracellular matrix organization. We identified potential new genetic variants associated with SS that might mediate their risk by altering DNA methylation or gene expression patterns, as well as disease-interacting genetic variants that exhibit regulatory function only in the SS population. Our study sheds new light on the interaction between genetics, autoantibody profiles, DNA methylation and gene expression in SS, and contributes to elucidate the genetic architecture of gene regulation in an autoimmune population. © 2021, The Author(s). LA - English DB - MTMT ER - TY - JOUR AU - Bocskai, Márta AU - Kozák, E AU - Szamosi, Sz AU - Bálint, Bálint László AU - Horváth, Á AU - Szűcs, G AU - Váradi, A AU - Kovács, László TI - Az anorganikus pirofoszfát-szint vizsgálata sclerodermás betegeinkben JF - MAGYAR REUMATOLÓGIA J2 - MAGYAR REUMATOL VL - 62 PY - 2021 IS - 3 SP - 142 SN - 0139-4495 UR - https://m2.mtmt.hu/api/publication/32242154 ID - 32242154 LA - Hungarian DB - MTMT ER -