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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/182722
Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature
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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.
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TERUEL, María, BARTUREN, Guillermo, MARTÍNEZ BUENO, Manuel, CASTELLINI PÉREZ, Olivia, BARROSO GIL, Miguel, POVEDANO, Elena, KERICK, Martin, CATALÀ MOLL, Francesc, MAKOWSKA, Zuzanna, BUTTGEREIT, Anne, BERETTA, Lorenzo, KNIESCH, Katja, LI, Tianlu, LÓPEZ PEDRERA, Chary, MAKOWSKA, Zuzanna, MARAÑÓN, Concepción, MUCHMORE, Brian, NEVES, Esmeralda, ROUVIÈRE, Bénédicte, SIMON, Quentin, TROMBETTA, Elena, VARELA, Nieves, WITTE, Torsten, PERS, Jacques-olivier, MARAÑÓN, Concepción, BALLESTAR TARÍN, Esteban, MARTIN, Javier, CARNERO MONTORO, Elena, ALARCÓN RIQUELME, Marta, PRECISESADS Clinical Consortium, PRECISESADS Flow Cytometry Study Group, VIGONE, Barbara, SARAUX, Alain, DEVAUCHELLE-PENSEC, Valérie, CORNEC, Divi, JOUSSE-JOULIN, Sandrine, LAUWERYS, Bernard, DUCREUX, Julie, MAUDOUX, Anne-lise, VASCONCELOS, Carlos, TAVARES, Ana, NEVES, Esmeralda, FARIA, Raquel, BRANDÃO, Mariana, CAMPAR, Ana, MARINHO, António, FARINHA, Fátima, ALMEIDA, Isabel, GONZALEZ-GAY MANTECÓN, Miguel ángel, BLANCO ALONSO, Ricardo, CORRALES MARTÍNEZ, Alfonso, CERVERA I SEGURA, Ricard, RODRÍGUEZ PINTÓ, Ignasi, ESPINOSA GARRIGA, Gerard, LORIES, Rik, LANGHE, Ellen de, HUNZELMANN, Nicolas, BELZ, Doreen, WITTE, Torsten, BAERLECKEN, Niklas, STUMMVOLL, Georg, ZAUNER, Michael, LEHNER, Michaela, COLLANTES, Eduardo, ORTEGA CASTRO, Rafaela, AGUIRRE ZAMORANO, Mª. ángeles, ESCUDERO CONTRERAS, Alejandro, CASTRO VILLEGAS, Mª carmen, ORTEGO, Norberto, FERNÁNDEZ ROLDÁN, María concepción, RAYA, Enrique, JIMÉNEZ MOLEÓN, Inmaculada, RAMON, Enrique de, DÍAZ QUINTERO, Isabel, MERONI, Pier luigi, GEROSA, Maria, SCHIOPPO, Tommaso, ARTUSI, Carolina, CHIZZOLINI, Carlo, ZUBER, Aleksandra, WYNAR, Donatienne, KOVÁCS, Laszló, BALOG, Attila, DEÁK, Magdolna, BOCSKAI, Márta, DULIC, Sonja, KÁDÁR, Gabriella, HIEPE, Falk, GERL, Velia, THIEL, Silvia, RODRIGUEZ MARESCA, Manuel, LÓPEZ BERRIO, Antonio, AGUILAR QUESADA, Rocío, NAVARRO LINARES, Héctor, ALVAREZ, Montserrat, ÁLVAREZ ERRICO, Damiana, AZEVEDO, Nancy, BARBARROJA, Nuria, BUTTGEREIT, Anne, CHENG, Qingyu, CHIZZOLINI, Carlo, CREMER, Jonathan, GROOF, Aurélie de, LANGHE, Ellen de, DUCREUX, Julie, DUFOUR, Aleksandra, GERL, Velia, HERNÁNDEZ FUENTES, María, KHODADADI, Laleh. 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, núm. 1. [consulta: 22 de gener de 2026]. ISSN: 2045-2322. [Disponible a: https://hdl.handle.net/2445/182722]