@misc{10481/72314,
year = {2021},
month = {12},
url = {http://hdl.handle.net/10481/72314},
abstract = {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.},
organization = {Innovative Medicines Initiative Joint Undertaking from the European Union's Seventh Framework Program (FP7/2007-2013)	115,565},
organization = {EFPIA companies},
organization = {Junta de Andalucia	PI/0017/2016},
organization = {Innovative Medicines Initiative 2 Joint Undertaking	806975	
European Union's Horizon 2020 research and innovation programme},
organization = {EFPIA},
organization = {Postdoctoral Training Subprogramme Juan de la Cierva-Ministry of Economy and Competitiveness	FJCI_2014_20652},
publisher = {Nature},
title = {Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature},
doi = {10.1038/s41598-021-01324-0},
author = {Teruel Artacho, María and Barturen Briñas, Guillermo and Martínez Bueno, Manuel and Castellini Pérez, Olivia and Barroso Gil, Miguel and Povedano Espejo, Elena and Kerick, Martin and Marañón Lizana, Concepción and Martín Ibáñez, Javier and Carnero Montoro, Elena and Alarcón Riquelme, Marta Eugenia and Castro Villegas, Mª Carmen and Ortego Centeno, Norberto and Fernández Roldán, María Concepción and Raya Álvarez, Enrique Germán and Jiménez Moleón, Inmaculada and Rodríguez Maresca, Manuel and López Berrio, Antonio and Aguilar Quesada, Rocío and Navarro Linares, Héctor and Muchmore, Brian and PRECISESADS Clinical Consortium and PRECISESADS Flow Cytometry Study Group},
}