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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature
Scientific Reports, Volume 11, No. 1, Article 23292, Year 2021
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Description
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. © 2021, The Author(s).
Authors & Co-Authors
Barroso-Gil, Miguel
Spain, Granada
Universidad de Granada
Kerick, Martin
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Beretta, Lorenzo
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Pers, Jacques-Olivier Olivier
France, Brest
Centre Hospitalier Universitaire de Brest
Saraux, Alain
France, Brest
Centre Hospitalier Universitaire de Brest
Devauchelle-Pensec, Valérie
France, Brest
Centre Hospitalier Universitaire de Brest
Cornec, Divi Y.K.
France, Brest
Centre Hospitalier Universitaire de Brest
Jousse-Joulin, Sandrine
France, Brest
Centre Hospitalier Universitaire de Brest
Lauwerys, Bernard R.
Belgium, Louvain-la-neuve
Université Catholique de Louvain
Vasconcelos, Carlos A.C.
Unknown Affiliation
Neves, Esmeralda
Unknown Affiliation
Faria, Raquel M.
Unknown Affiliation
Marinho, António A.P.
Unknown Affiliation
Almeida, Isabel M.
Unknown Affiliation
González-Gay, Miguel Ángel
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Cervera, Ricard
Spain, Barcelona
Institut D'investigacions Biomèdiques August pi I Sunyer - Idibaps
Rodríguez-Pintó, Ignasi
Spain, Barcelona
Institut D'investigacions Biomèdiques August pi I Sunyer - Idibaps
Espinosa, Gerard
Spain, Barcelona
Institut D'investigacions Biomèdiques August pi I Sunyer - Idibaps
de Langhe, Ellen
Belgium, Leuven
Ku Leuven
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Hunzelmann, Nicolas
Germany, Koln
Uniklinik Köln
Witte, Torsten
Germany, Hannover
Hannover Medical School
Baerlecken, Niklas Thomas
Germany, Hannover
Hannover Medical School
Collantes, Eduardo
Spain, Cordoba
Hospital Universitario Reina Sofia
Ortega-Castro, Rafaela
Spain, Cordoba
Hospital Universitario Reina Sofia
Aguirre, Mª Angeles
Spain, Cordoba
Hospital Universitario Reina Sofia
Escudero-Contreras, A.
Spain, Cordoba
Hospital Universitario Reina Sofia
Raya Álvarez, Enriqué G.
Spain, Granada
Complejo Hospitalario Universitario de Granada
de Rámon, Enrique
Spain, Malaga
Hospital Regional Universitario Carlos Haya
Meroni, Pier Luigi
Italy, Milan
Università Degli Studi Di Milano
Gerosa, Maria
Italy, Milan
Università Degli Studi Di Milano
Chizzolini, Carlo
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Hiepe, Falk
Germany, Berlin
Charité – Universitätsmedizin Berlin
Barbarroja, Nuria
Spain, Cordoba
Instituto Maimónides de Investigación Biomédica de Córdoba Imibic
Germany, Leverkusen
Bayer ag
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Alarcón-Riquelme, Marta Eugenia
Spain, Granada
Universidad de Granada
Sweden, Stockholm
Karolinska Institutet
Statistics
Citations: 11
Authors: 35
Affiliations: 28
Identifiers
Doi:
10.1038/s41598-021-01324-0
ISSN:
20452322
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study