ArticleScientific reports2021
Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Familial and genetic overlap between Sjögren's disease and other autoimmune diseases.Frontiers in immunology · 2026Pooled it
- GEDO: topology-based inference of gene module activity in Sjögren's disease.Briefings in bioinformatics · 2026Article
- Interferon signaling gene expression, and DNA methylation interactions in Sjögren's disease via mendelian randomization.iScience · 2026Article
- Update on the Aetiopathogenesis of Sjögren Disease: From Interferon Signaling to Epithelial Dysfunction.Journal of clinical medicine · 2026Review
- Sjögren's Disease-Associated Renal Tubular Acidosis: An Integrated Immuno-Tubular Model of Tubular Dysfunction.International journal of medical sciences · 2026Review
- Genome-wide gene expression analysis suggests an important regulatory role of lncRNAs in primary Sjögren's syndrome.Frontiers in immunology · 2026Article
- Fibrotic remodeling in the NOD/ShiLtJ mouse model of Sjögren's disease: insights from single-cell transcriptomics and AI-driven ECM quantification.Frontiers in immunology · 2026Article
- Integrated study of DNA methylation and transcriptome: a new perspective for exploring the pathogenesis of Sjögren's syndrome.Epigenetics & chromatin · 2025Article
- STING pathways and Sjögren's syndrome: Exploration from mechanism to treatment.Frontiers in immunology · 2025Review
- Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants.NPJ genomic medicine · 2024Article
- Two Concomitant Rare Extraglandular Manifestations of Primary Sjögren's Syndrome: IgA Nephropathy and Autoimmune Hepatitis.Mediterranean journal of rheumatology · 2024Article
- Functional significance of DNA methylation: epigenetic insights into Sjögren's syndrome.Frontiers in immunology · 2024Review
- Advances in cellular and molecular pathways of salivary gland damage in Sjögren's syndrome.Frontiers in immunology · 2024Review
- Metformin-induced activation of CaJournal of translational autoimmunity · 2023Article
- Pervasive Sharing of Causal Genetic Risk Factors Contributes to Clinical and Molecular Overlap between Sjögren's Disease and Systemic Lupus Erythematosus.International journal of molecular sciences · 2023Article
- A basket genetic trial of the vasculitides.Nature reviews. Rheumatology · 2023Article
- The Spectrum of Extraglandular Manifestations in Primary Sjögren's Syndrome.Journal of personalized medicine · 2023Review
- Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies.Nature reviews. Rheumatology · 2023Review
- Designing Studies for Epigenetic Biomarker Development in Autoimmune Rheumatic Diseases.Rheumatology and immunology research · 2022Review
- Machine Learning for the Identification of a Common Signature for Anti-SSA/Ro 60 Antibody Expression Across Autoimmune Diseases.Arthritis & rheumatology (Hoboken, N.J.) · 2022Article
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Authors and funding
18 authors at 20 institutions in 13 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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