|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
Genetic polymorphism (rs1800693) of TNFRSF1A (type 1 tumour necrosis factor receptor) encodes a potentially anti-inflammatory soluble truncated form of the p55 receptor, which is associated with predisposition to multiple sclerosis but protection against ankylosing spondylitis (AS).
|
29535371 |
2019 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
In conclusion, our results provide support for a sex- and HLA-DRB1*15:01-independent association of TNFRSF1A rs1800693 SNP with MS susceptibility, but not with age at disease onset, severity or rate of disability accumulation.
|
30009568 |
2018 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
Biomarker |
BEFREE |
One major cytokine has been shown to play a pivotal role in several autoimmune diseases such as rheumatoid arthritis (RA) and multiple sclerosis (MS): tumor necrosis factor alpha (TNFα) modulates the induction and maintenance of an inflammatory process and it comes in two variants, soluble TNF (solTNF) and transmembrane bound TNF (tmTNF). tmTNF signals <i>via</i> TNFR1 and TNFR2, whereas solTNF signals mainly <i>via</i> TNFR1.
|
29760711 |
2018 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
Biomarker |
BEFREE |
MS patients with hyperhomocysteinemia showed higher disease progression evaluated by the Multiple Sclerosis Severity Score (MSSS, p < 0.001), disability evaluated by Expanded Disability Status Score EDSS (p < 0.001), TNFR1 (p = 0.039) and ICAM (p = 0.034) than MS patients with lower levels of homocysteine.
|
29797117 |
2018 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.
|
28927886 |
2018 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
Biomarker |
BEFREE |
Anti-TNFR1 targeting in humanized mice ameliorates disease in a model of multiple sclerosis.
|
30206422 |
2018 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
The MS disease aetiology is unknown, though a polymorphism of the TNFRSF1A gene, rs1800693, is known to confer an increased risk for MS.
|
29034884 |
2017 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
Biomarker |
BEFREE |
Collectively, our data illustrate that TNFR1 is a promising therapeutic target in MS.
|
29057962 |
2017 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
Biomarker |
BEFREE |
The strongest evidence of association was found for the TNFRSF1A gene, a proinflammatory gene that is involved in mitogen-activated protein kinase (MAPK) and NF-Kappa B signaling pathways, and has been identified as a candidate gene in the development of MS. MAPKs were also found to be elevated in CAs.
|
27090970 |
2016 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
GWASCAT |
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
|
27386562 |
2016 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
The TNF-α inverse association with relapse was only present among persons carrying the wild-type of the functional SNP rs1800693 in TNFRSF1A that has been previously associated with MS risk.
|
24790215 |
2015 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
We report that MS-associated variants proximal to NFκB1 and in an intron of TNFRSF1A (TNFR1) are associated with increased NFκB signaling after tumor necrosis factor-α (TNFα) stimulation.
|
26062845 |
2015 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort.
|
25684197 |
2015 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
In 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.
|
24174586 |
2013 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
Interestingly, this region contains the TNF gene, the cognate ligand of the well-validated TNFRSF1A MS susceptibility gene.
|
24278027 |
2013 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
We describe 3 families (8 subjects) with the TNFRSF1A D12E substitution and TRAPS-related symptoms, in 4 cases associated with the autoimmune diseases multiple sclerosis and rheumatoid arthritis.
|
23322460 |
2013 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
Biomarker |
BEFREE |
In particular, two recently published studies of meta-analysis in European-origin populations have suggested associations of single-nucleotide polymorphisms (SNPs) in CD6, TNFRSF1A and IRF8 with MS.
|
22994200 |
2013 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
Recent work investigating the functional consequences of MS-associated genetic variation in the gene encoding TNFR1 has demonstrated that genetic risk drives the production of a novel, endogenous TNF antagonist.
|
24024893 |
2013 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
GWASCAT |
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
|
24076602 |
2013 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
Biomarker |
CTD_human |
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
|
24076602 |
2013 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
Serum levels of sTNF-R1 and mRNA expression levels of the full-length receptor were significantly increased in patients with MS carrying the rs4149584" genes_norm="7132">R92Q mutation (p = 0.003 and p = 0.011, respectively), but similarly distributed among rs1800693 genotypes; cell surface TNF-R1 expression in T cells did not differ between rs4149584 and rs1800693 genotypes.
|
23624563 |
2013 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
Recent studies have recognized the potential role of TNFRSF1A mutations in Multiple Sclerosis (MS).
|
21567205 |
2012 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
AlteredExpression |
BEFREE |
We further substantiate this through functional studies showing that the MS risk allele directs expression of a novel, soluble form of TNFR1 that can block TNF.
|
22801493 |
2012 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
Variants in TNFRSF1A and in the vicinity of IRF8 were confirmed to be associated in these independent cohorts, which supports the role of these loci in etiology of multiple sclerosis.
|
21552549 |
2011 |
|
TNFRSF1A
|
Multiple Sclerosis
|
0.500 |
GeneticVariation |
BEFREE |
The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS.
|
22059991 |
2011 |