2026-04-17T11:52:43Zhttps://recercat.cat/oai/request
oai:recercat.cat:2445/1827222025-11-21T05:31:14Zcom_2072_1057col_2072_478916col_2072_478917col_2072_478921
RECERCAT author Teruel, María author Barturen, Guillermo author Martínez Bueno, Manuel author Castellini Pérez, Olivia author Barroso Gil, Miguel author Povedano, Elena author Kerick, Martin author Català Moll, Francesc author Makowska, Zuzanna author Buttgereit, Anne author Beretta, Lorenzo author Kniesch, Katja author Li, Tianlu author López Pedrera, Chary author Makowska, Zuzanna author Marañón, Concepción author Muchmore, Brian author Neves, Esmeralda author Rouvière, Bénédicte author Simon, Quentin author Trombetta, Elena author Varela, Nieves author Witte, Torsten author Pers, Jacques-Olivier author Marañón, Concepción author Ballestar Tarín, Esteban author Martin, Javier author Carnero Montoro, Elena author Alarcón Riquelme, Marta author PRECISESADS Clinical Consortium author PRECISESADS Flow Cytometry Study Group author Vigone, Barbara author Saraux, Alain author Devauchelle-Pensec, Valérie author Cornec, Divi author Jousse-Joulin, Sandrine author Lauwerys, Bernard author Ducreux, Julie author Maudoux, Anne-lise author Vasconcelos, Carlos author Tavares, Ana author Neves, Esmeralda author Faria, Raquel author Brandão, Mariana author Campar, Ana author Marinho, António author Farinha, Fátima author Almeida, Isabel author Gonzalez-Gay Mantecón, Miguel Ángel author Blanco Alonso, Ricardo author Corrales Martínez, Alfonso author Cervera i Segura, Ricard, 1960- author Rodríguez Pintó, Ignasi author Espinosa Garriga, Gerard author Lories, Rik author Langhe, Ellen de author Hunzelmann, Nicolas author Belz, Doreen author Witte, Torsten author Baerlecken, Niklas author Stummvoll, Georg author Zauner, Michael author Lehner, Michaela author Collantes, Eduardo author Ortega Castro, Rafaela author Aguirre Zamorano, Mª. Ángeles author Escudero Contreras, Alejandro author Castro Villegas, Mª Carmen author Ortego, Norberto author Fernández Roldán, María Concepción author Raya, Enrique author Jiménez Moleón, Inmaculada author Ramon, Enrique de author Díaz Quintero, Isabel author Meroni, Pier Luigi author Gerosa, Maria author Schioppo, Tommaso author Artusi, Carolina author Chizzolini, Carlo author Zuber, Aleksandra author Wynar, Donatienne author Kovács, Laszló author Balog, Attila author Deák, Magdolna author Bocskai, Márta author Dulic, Sonja author Kádár, Gabriella author Hiepe, Falk author Gerl, Velia author Thiel, Silvia author Rodriguez Maresca, Manuel author López Berrio, Antonio author Aguilar Quesada, Rocío author Navarro Linares, Héctor author Alvarez, Montserrat author Álvarez Errico, Damiana author Azevedo, Nancy author Barbarroja, Nuria author Buttgereit, Anne author Cheng, Qingyu author Chizzolini, Carlo author Cremer, Jonathan author Groof, Aurélie de author Langhe, Ellen de author Ducreux, Julie author Dufour, Aleksandra author Gerl, Velia author Hernández Fuentes, María author Khodadadi, Laleh 2022-01-27T16:18:22Z2022-01-27T16:18:22Z2021-12-012022-01-25T12:43:41Z 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. cc by (c) Teruel, María et al, 2021 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess Malalties autoimmunitàries Epigenètica Autoimmune diseases Epigenetics Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion