ArticleArthritis research & therapy2022
Integrative blood-derived epigenetic and transcriptomic analysis reveals the potential regulatory role of DNA methylation in ankylosing spondylitis.
Article in Arthritis research & therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Research advancements in DNA methylation pertaining to ankylosing spondylitis.Frontiers in immunology · 2026Review
- Development and validation of a risk stratification model for cardiovascular disease in patients with radiographic axial spondyloarthritis (r-axSpA): a retrospective study.Frontiers in medicine · 2026Article
- Xinfeng capsule attenuates ankylosing spondylitis by downregulating YTHDC1-mediated mFrontiers in immunology · 2026Article
- From advanced imaging to molecular insights: the state of the art in omics for axial spondyloarthritis.Therapeutic advances in musculoskeletal disease · 2025Review
- Application of methylation in the diagnosis of ankylosing spondylitis.Clinical rheumatology · 2024Review
- Deoxycholic acid inducing chronic atrophic gastritis with colonic mucosal lesion correlated to mucosal immune dysfunction in rats.Scientific reports · 2024Article
- DNA methylation and transcription of the FOXO3a gene are associated with ankylosing spondylitis.Clinical and experimental medicine · 2023Article
- DNA methylation and transcriptome signatures of the PDCD1 gene in ankylosing spondylitis.Genes and immunity · 2023Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe currently known risk loci could explain a small proportion of the heritability of ankylosing spondylitis (AS). Epigenetics might account for the missing heritability. We aimed to seek more novel AS-associated DNA methylation alterations and delineate the regulatory effect of DNA methylation and gene expression with integrated analysis of methylome and transcriptome.
methodsEpigenome-wide DNA methylation and mRNA expression were profiled in peripheral blood mononuclear cells (PBMCs) from 45 individuals (AS: health controls (HCs) = 30:15) with high-throughput array. The methylome was validated in an independent cohort (AS: HCs = 12:12). Pearson correlation analysis and causal inference tests (CIT) were conducted to determine potentially causative regulatory effects of methylation on mRNA expression.
resultsA total of 4794 differentially methylated positions (DMPs) were identified associated with AS, 2526 DMPs of which were validated in an independent cohort. Both cohorts highlighted T cell receptor (TCR) signaling and Th17 differentiation pathways. Besides, AS patients manifested increased DNA methylation variability. The methylation levels of 158 DMPs were correlated with the mRNA expression levels of 112 genes, which formed interconnected network concentrated on Th17 cell differentiation and TCR signaling pathway (LCK, FYN, CD3G, TCF7, ZAP70, CXCL12, and PLCG1). We also identified several cis-acting DNA methylation and gene expression changes associated with AS risk, which might regulate the cellular mechanisms underlying AS.
conclusionsOur studies outlined the landscapes of epi-signatures of AS and several methylation-gene expression-AS regulatory axis and highlighted the Th17 cell differentiation and TCR signaling pathway, which might provide innovative molecular targets for therapeutic interventions for AS.
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