ArticleHuman molecular genetics2013
Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 3 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 3 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data.Genome biology · 2023Pooled it
- Meta-Analysis of Differential Connectivity in Gene Co-Expression Networks in Multiple Sclerosis.International journal of molecular sciences · 2016Pooled it
- Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.International journal of molecular sciences · 2015Pooled it
- Integrative Transcriptomics Uncovers IFN-β Signature and IFITM3 as Putative Molecular Mediator in MS.International journal of molecular sciences · 2026Article
- Proteomic analysis of cerebrospinal fluid from females with multiple sclerosis highlights elevated microglial function and impaired neurogenesis.IBRO neuroscience reports · 2025Article
- Establishment of the Diagnostic Signature of Ferroptosis Genes in Multiple Sclerosis.Biochemical genetics · 2025Article
- Role of ferroptosis in neuroimmunity and neurodegeneration in multiple sclerosis revealed by multi-omics data.Journal of cellular and molecular medicine · 2024Article
- The Ala134Thr variant in TMEM176B exerts a beneficial role in colorectal cancer prognosis by increasing NLRP3 inflammasome activation.Journal of cancer research and clinical oncology · 2023Article
- An Enhanced Multiple Sclerosis Disease Diagnosis via an Ensemble Approach.Diagnostics (Basel, Switzerland) · 2022Article
- The intracellular cation channel TMEM176B as a dual immunoregulator.Frontiers in cell and developmental biology · 2022Review
- Genetic Variation in WNT9B Increases Relapse Hazard in Multiple Sclerosis.Annals of neurology · 2021Article
- Identification of blood-derived candidate gene markers and a new 7-gene diagnostic model for multiple sclerosis.Biological research · 2021Article
- Cell type-specific transcriptomics identifies neddylation as a novel therapeutic target in multiple sclerosis.Brain : a journal of neurology · 2021Article
- Constructing and validating a diagnostic nomogram for multiple sclerosis via bioinformatic analysis.3 Biotech · 2021Article
- Identification and Clinical Validation of Key Extracellular Proteins as the Potential Biomarkers in Relapsing-Remitting Multiple Sclerosis.Frontiers in immunology · 2021Article
- Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population.Frontiers in genetics · 2021Article
- Cytokine and Gene Expression Profiling in Patients with HFE-Associated Hereditary Hemochromatosis according to Genetic Profile.Acta haematologica · 2021Article
- Genomic, proteomic, and systems biology approaches in biomarker discovery for multiple sclerosis.Cellular immunology · 2020Review
- Article
- A pathogenic and clonally expanded B cell transcriptome in active multiple sclerosis.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
Multiple sclerosis (MS) is the most common autoimmune disease of the central nervous system (CNS). It is characterized by the infiltration of autoreactive immune cells into the CNS, which target the myelin sheath, leading to the loss of neuronal function. Although it is accepted that MS is a multifactorial disorder with both genetic and environmental factors influencing its development and course, the molecular pathogenesis of MS has not yet been fully elucidated. Here, we studied the longitudinal gene expression profiles of whole-blood RNA from a cohort of 195 MS patients and 66 healthy controls. We analyzed these transcriptomes at both the individual transcript and the biological pathway level. We found 62 transcripts to be significantly up-regulated in MS patients; the expression of 11 of these genes was counter-regulated by interferon treatment, suggesting partial restoration of a 'healthy' gene expression profile. Global pathway analyses linked the proteasome and Wnt signaling to MS disease processes. Since genotypes from a subset of individuals were available, we were able to identify expression quantitative trait loci (eQTL), a number of which involved two genes of the MS gene signature. However, all these eQTL were also present in healthy controls. This study highlights the challenge posed by analyzing transcripts from whole blood and how these can be mitigated by using large, well-characterized cohorts of patients with longitudinal follow-up and multi-modality measurements.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.