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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.
Martínez-Berriochoa, A., Unzurrunzaga, A., Hidalgo-Conde, A., Vuelta, A.B.M., Fernández-Nebro, A., Carmen Ordóñez-Cañizares, M., et al. (2017). Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy (Scientific Reports (2017) 7 (43953) DOI: 10.1038/srep43953). SCIENTIFIC REPORTS, 7, 46012-46013 [10.1038/srep46012].
Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy (Scientific Reports (2017) 7 (43953) DOI: 10.1038/srep43953)
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. C.i.m.m.i.n.o.5.2. 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 K.a.r.a.a.s.l.a.n.7.3. 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. .
2017
Abstract
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.
Martínez-Berriochoa, A., Unzurrunzaga, A., Hidalgo-Conde, A., Vuelta, A.B.M., Fernández-Nebro, A., Carmen Ordóñez-Cañizares, M., et al. (2017). Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy (Scientific Reports (2017) 7 (43953) DOI: 10.1038/srep43953). SCIENTIFIC REPORTS, 7, 46012-46013 [10.1038/srep46012].
Martínez-Berriochoa, Agustín; Unzurrunzaga, Ainhoa; Hidalgo-Conde, Ana; Vuelta, Ana Belén Madroñero; Fernández-Nebro, Antonio; Carmen Ordóñez-Cañizare...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/590960
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simulazione ASN
Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
La presente simulazione è stata realizzata sulla base delle specifiche raccolte sul tavolo ER del Focus Group IRIS coordinato dall’Università di Modena e Reggio Emilia e delle regole riportate nel DM 589/2018 e allegata Tabella A. Cineca, l’Università di Modena e Reggio Emilia e il Focus Group IRIS non si assumono alcuna responsabilità in merito all’uso che il diretto interessato o terzi faranno della simulazione. Si specifica inoltre che la simulazione contiene calcoli effettuati con dati e algoritmi di pubblico dominio e deve quindi essere considerata come un mero ausilio al calcolo svolgibile manualmente o con strumenti equivalenti.