Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
| Autor: | Martínez Berriochoa, Agustín, Unzurrunzaga, Ainhoa, Hidalgo Conde, Ana, Vuelta, Ana Belén Madroñero, Fernández Nebro, Antonio, Carmen Ordóñez Cañizares, M., Fernández Gutiérrez, Benjamín, Rodríguez Rodríguez, Luis, Escalante, Begoña, Alfonso, Begoña Marí, Sopeña, Bernardo, Gómez Vaquero, Carmen, Raya, Enrique, Grau, Elena, Román, José A., Vicente, Esther F., Miguel, Eugenio de, López Longo, Francisco J., Martínez, Lina, Morado, Inmaculada C., Bernardino Díaz López, J., Caminal Montero, Luis, Martínez Zapico, Aleida, Narváez, Javier, Monfort, Jordi, Tío, Laura, Filloy, José A. Miranda, Sánchez Martín, Julio, Alegre Sancho, Juan J., Sáez Comet, Luis, Conesa, Mercedes Pérez, Corbera Bellalta, Marc, Ramentol Sintas, Marc, García Villanueva, María Jesús, Rojas, Mercedes Guijarro, Ortego Centeno, Norberto, Fernández, Raquel Ríos, Callejas, José Luis, Pernaute, Olga Sanchez, Mateo, Patricia Fanlo, Blanco, Ricardo, González, Sergio Prieto, Soriano, Víctor Manuel Martínez T.a.b.o.a.d.a.1.1. Alessandra, Lunardi, Claudio, Gianfreda, Davide, Santilli, Daniele, Bonatti, Francesco, Muratore, Francesco, Pazzola, Giulia, ADDIMANDA, OLGA, Emmi, Giacomo, Ramirez, Giuseppe A., Beretta, Lorenzo, Govoni, Marcello, Onat, Marco A. Cimmino52 Ahmet Mesut, Cefle, Ayse, Yazici, Ayten, Kısacık, Bünyamin, Dalkilic, Ediz, Seyahi, Emire, Fresko, Izzet, Tunc, Ercan, Erken, Eren, Ozer, Hüseyin TE, Aksu, Kenan, Keser, Gokhan, Ozturk, Mehmet A., Bıcakcıgil, Muge, Duzgun, Nurşen, Karadag, Omer, Kiraz, Sedat, Pamuk, Ömer N., Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Kamali, Sevil, Inanc, Murat, Yentür, Sibel P., Aydin, Sibel Z., Alibaz Oner, Fatma, Kaşifoğlu, Timuçin, Cobankara, Veli, Ozbalkan, Zeynep, Ates, Askin, Carette, Yasar Karaaslan73 Simon, Chung, Sharon A., Cuthbertson, David, Forbess, Lindsay J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., Mcalear, Carol A., McKinnon Maksimowicz, Kathleen, Monach, Paul A., Moreland, Larry, Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg87, Steven R. . |
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| Přispěvatelé: | Universidad de Cantabria, David Carmona, F., Coit, Patrick, Saruhan-Direskeneli, Guher, Hernandez-Rodriguez, Jose, Cid, Maria C., Solans, Roser, Castaneda, Santos, Vaglio, Augusto, Direskeneli, Haner, Merkel, Peter A., Boiardi, Luigi, Salvarani, Carlo, Gonzalez-Gay, Miguel A., Martin, Javier, Sawalha, Amr H., Institut Català de la Salut, [Carmona FD] Instituto de Parasitología y Biomedicina ‘López-Neyra’, IPBLN-CSIC, PTS Granada, Granada, Spain. Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Granada 18016, Spain. [Coit P] Division of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA. [Saruhan-Direskeneli G] Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. [Hernández-Rodríguez J, Cid MC] Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic, University of Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. [Solans R] Unitat de Malalties Autoimmunes Sistèmiques, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Martínez-Berriochoa, Agustín, Unzurrunzaga, Ainhoa, Hidalgo-Conde, Ana, Vuelta, Ana Belén Madroñero, Fernández-Nebro, Antonio, Carmen Ordóñez-Cañizares, M., Fernández-Gutiérrez, Benjamín, Rodríguez-Rodríguez, Lui, Escalante, Begoña, Alfonso, Begoña Marí, Sopeña, Bernardo, Gómez-Vaquero, Carmen, Raya, Enrique, Grau, Elena, Román, José A., Vicente, Esther F., Miguel, Eugenio de, López-Longo, Francisco J., Martínez, Lina, Morado, Inmaculada C., Bernardino Díaz-López, J., Caminal-Montero, Lui, Martínez-Zapico, Aleida, Narváez, Javier, Monfort, Jordi, Tío, Laura, Filloy, José A. Miranda, Sánchez-Martín, Julio, Alegre-Sancho, Juan J., Sáez-Comet, Lui, Conesa, Mercedes Pérez, Corbera-Bellalta, Marc, Ramentol-Sintas, Marc, García-Villanueva, María Jesú, Rojas, Mercedes Guijarro, Ortego-Centeno, Norberto, Fernández, Raquel Río, Callejas, José Lui, Pernaute, Olga Sanchez, Mateo, Patricia Fanlo, Blanco, Ricardo, González, Sergio Prieto, Soriano, Víctor Manuel Martínez-Taboada11.Alessandra, Lunardi, Claudio, Gianfreda, Davide, Santilli, Daniele, Bonatti, Francesco, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Emmi, Giacomo, Ramirez, Giuseppe A., Beretta, Lorenzo, Govoni, Marcello, Onat, Marco A. Cimmino52 Ahmet Mesut, Cefle, Ayse, Yazici, Ayten, Kısacık, Bünyamin, Dalkilic, Ediz, Seyahi, Emire, Fresko, Izzet, Tunc, Ercan, Erken, Eren, Ozer, Hüseyin TE, Aksu, Kenan, Keser, Gokhan, Ozturk, Mehmet A., Bıcakcıgil, Muge, Duzgun, Nurşen, Karadag, Omer, Kiraz, Sedat, Pamuk, Ömer N., Akar, Servet, Onen, Fato, Akkoc, Nurullah, Kamali, Sevil, Inanc, Murat, Yentür, Sibel P., Aydin, Sibel Z., Alibaz-Oner, Fatma, Kaşifoğlu, Timuçin, Cobankara, Veli, Ozbalkan, Zeynep, Ates, Askin, Carette, Yasar Karaaslan73 Simon, Chung, Sharon A., Cuthbertson, David, Forbess, Lindsay J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., Mcalear, Carol A., McKinnon-Maksimowicz, Kathleen, Monach, Paul A., Moreland, Larry, Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg87, Steven R. ., Universitat de Barcelona |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine PATHOGENESIS enfermedades cardiovasculares::enfermedades vasculares::vasculitis [ENFERMEDADES] Genome-wide association study Cardiovascular Diseases::Vascular Diseases::Vasculitis [DISEASES] 0302 clinical medicine vasculitides Immunochip strategy HLA Antigens RHEUMATOLOGY 1990 CRITERIA Medicine skin and connective tissue diseases Genetics RISK Multidisciplinary Nervous System Diseases::Autoimmune Diseases of the Nervous System::Vasculitis Central Nervous System::Giant Cell Arteritis [DISEASES] TAKAYASU ARTERITIS ASSOCIATION Genomics Corrigenda predisposición 3. Good health enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::vasculitis del sistema nervioso central::arteritis de células gigantes [ENFERMEDADES] Female meta-Immunochip strategy Vasculitis Genotype SUSCEPTIBILITY LOCI Giant Cell Arteritis Locus (genetics) POLYMYALGIA-RHEUMATICA Human leukocyte antigen Genetic correlation 03 medical and health sciences GIANT-CELL ARTERITIS Genetic Pleiotropy Humans Genetic Predisposition to Disease cardiovascular diseases Arteritis Genotyping Arteritis de cèl·lules gegants 030203 arthritis & rheumatology Polymorphism Genetic IDENTIFICATION business.industry medicine.disease common genetic component Takayasu Arteritis Giant cell arteritis Genòmica 030104 developmental biology business INFLAMMATORY-BOWEL-DISEASE arge-vessel vasculitides |
| Zdroj: | Sci Rep.2017 Mar 9;7:43953 Digital.CSIC. Repositorio Institucional del CSIC instname Dipòsit Digital de la UB Universidad de Barcelona Scientia Recercat. Dipósit de la Recerca de Catalunya Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid Scientific Reports Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona UCrea Repositorio Abierto de la Universidad de Cantabria Universidad de Cantabria (UC) |
| Popis: | Giant cell arteritis (GCA) and Takayasu's arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus. This work was supported by SAF2012– 34435 from the Spanish Ministry of Economy and Competitiveness, BIO-1395 from Junta de Andalucía, and RD12/0009/0004 from the RETICS Program (RIER) of Instituto de Salud Carlos III (ISCIII). FDC was recipient of a grant from the ‘Ramón y Cajal’ programme of the Spanish Ministry of Economy and Competitiveness (RYC-2014–16458). MCC and JHR are supported by Ministerio de Economía y Competitividad (SAF 14/57708R), cofunded by “Fondo Europeo de Desarrollo Regional, Unión Europea, Una manera de hacer Europa” [Instituto de Salud Carlos III and Fondo Europeo de desarrollo regional (FEDER) (PIE 13/00033)]. The Vasculitis Clinical Research Consortium has received support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (U54AR057319), the National Center for Research Resources (U54 RR019497), the Office of Rare Diseases Research, and the National Center for Advancing Translational Science. The VCRC is part of the Rare Diseases Clinical Research Network (RDCRN). |
| Databáze: | OpenAIRE |
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