ArticleNeurology2013
Clinical relevance and functional consequences of the TNFRSF1A multiple sclerosis locus.
Article in Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
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- Genetic-Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis.Annals of neurology · 2026Article
- Mendelian randomization identifies proteins involved in neurodegenerative diseases.Brain : a journal of neurology · 2025Article
- GWAS highlights the neuronal contribution to multiple sclerosis susceptibility.medRxiv : the preprint server for health sciences · 2024Article
- Do genetics contribute to TNF inhibitor response prediction in Psoriatic Arthritis?The pharmacogenomics journal · 2023Review
- Genomic and gene expression associations to morphology of a sexual ornament in the chicken.G3 (Bethesda, Md.) · 2022Article
- A comprehensive review on the role of chemokines in the pathogenesis of multiple sclerosis.Metabolic brain disease · 2021Review
- Review
- Transcript specific regulation of expression influences susceptibility to multiple sclerosis.European journal of human genetics : EJHG · 2020Article
- The severity of ankylosing spondylitis and responses to anti-tumour necrosis factor biologics are not influenced by the tumour necrosis factor receptor polymorphism incriminated in multiple sclerosis.Genes and immunity · 2019Article
- Enhanced astrocyte responses are driven by a genetic risk allele associated with multiple sclerosis.Nature communications · 2018Article
- Deconstructing and targeting the genomic architecture of human neurodegeneration.Nature neuroscience · 2018Review
- Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy.PloS one · 2018Article
- The putative role of environmental aluminium in the development of chronic neuropathology in adults and children. How strong is the evidence and what could be the mechanisms involved?Metabolic brain disease · 2017Review
- Inflammation in the spotlight-clinical relevance of genetic variants affecting nuclear factor κB and tumor necrosis factor receptor 1.Annals of translational medicine · 2017Article
- Spaceflight alters expression of microRNA during T-cell activation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2015Article
- Genetic variants associated with autoimmunity drive NFκB signaling and responses to inflammatory stimuli.Science translational medicine · 2015Article
- Genetic basis of autoimmunity.The Journal of clinical investigation · 2015Review
- Multiple sclerosis-a quiet revolution.Nature reviews. Neurology · 2015Review
- Translational utility of experimental autoimmune encephalomyelitis: recent developments.Journal of inflammation research · 2015Review
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveWe set out to characterize the clinical impact and functional consequences of rs1800693(G), the multiple sclerosis (MS) susceptibility allele found in the TNFRSF1A locus.
methodsWe analyzed prospectively collected data on patients with MS to assess the role of the TNFRSF1A locus on disease course and treatment response. Using archival serum samples and freshly isolated monocytes from patients with MS and healthy subjects, we evaluated the effects of rs1800693(G) and a second risk allele, R92Q, on immune function.
resultsIn 772 patients with MS, we see no evidence that rs1800693(G) strongly influences clinical or radiographic indices of disease course and treatment response; thus, rs1800693(G) appears to be primarily involved in the onset of MS. At the molecular level, this validated susceptibility allele generates an RNA isoform, TNFRSF1A Δ6, that lacks the transmembrane and cytoplasmic domains. While there was no measurable effect on serum levels of soluble TNFRSF1A, rs1800693(G) appears to alter the state of monocytes, which demonstrate a more robust transcriptional response of CXCL10 and other genes in response to tumor necrosis factor (TNF)-α. We also report that activation of the TNF-α pathway results in altered expression of 6 other MS susceptibility genes, including T-cell activation rho GTPase activating protein (TAGAP) and regulator of G-protein signaling 1 (RGS1), which are not previously known to be responsive to TNF-α.
conclusionsThe MS rs1800693(G) susceptibility allele affects the magnitude of monocyte responses to TNF-α stimulation, and the TNF pathway may be one network in which the effect of multiple MS genes becomes integrated.
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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.