ArticleInternational journal of molecular sciences2026
Integrative Multi-Omics Analysis of Multiple Sclerosis Reveals Cell-Type-Specific Regulatory Landscapes and Discordant Methylation-Expression Coupling.
Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Multiple sclerosis (MS) is an immune-mediated central nervous system disease with mapped genetic risk loci but unresolved cross-layer regulatory mechanisms. We harmonised 30 primary public MS datasets spanning bulk transcriptomics (552 samples, 367 MS/185 healthy control [HC]), DNA methylation arrays (475 samples, 244 MS/231 HC) with sorted-cell whole-genome bisulfite sequencing (WGBS) assessment, single-cell RNA sequencing (RNA-seq; 517,533 cells from 81 donors), and cerebrospinal fluid (CSF) and brain white-matter proteomes, and UK Biobank Pharma Proteomics Project (UK Biobank-PPP) plasma proteomic statistics (407 MS/39,979 HC) for external validation. We prioritised MS-associated genes showing inverse-concordant, cohort-level methylation-expression associations and orthogonal support across layers. After harmonised reprocessing and per-stratum differential testing, a bulk-RNA × methylation inverse-concordance filter followed by an independent proteomic and/or donor-level single-cell anchor identified two Tier-1 candidates (
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