|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
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
|
0.500 |
GeneticVariation
|
disease |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews.
|
11598334 |
2001 |
|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, this region contains the TNF gene, the cognate ligand of the well-validated TNFRSF1A MS susceptibility gene.
|
24278027 |
2013 |
|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
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
|
0.500 |
GeneticVariation
|
disease |
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
|
0.500 |
GeneticVariation
|
disease |
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
TNFRSF1A, CD6 and IRF8, as novel risk factors for multiple sclerosis with genome-wide level of significance.
|
20430450 |
2010 |
|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS.
|
22059991 |
2011 |
|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
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
|
0.500 |
Biomarker
|
disease |
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
|
0.500 |
Biomarker
|
disease |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We scanned for all genetic variants in functionally important regions of the tumor necrosis factor receptor 1 gene (TNF-R1) in 100 to 111 MS patients from Olmsted County, MN, and analyzed selected variants for an association with disease course and severity.Ten genetic variants were uncovered.
|
10227645 |
1999 |
|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Replication in an independent set of 2,215 subjects with MS and 2,116 control subjects validates new MS susceptibility loci at TNFRSF1A (combined P = 1.59 x 10(-11)), IRF8 (P = 3.73 x 10(-9)) and CD6 (P = 3.79 x 10(-9)).
|
19525953 |
2009 |
|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis.
|
20876156 |
2010 |
|
TNFRSF1A
|
0.500 |
Biomarker
|
disease |
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
|
0.500 |
GeneticVariation
|
disease |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
TNFRSF1A coding variants in multiple sclerosis.
|
21565411 |
2011 |
|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have recognized the potential role of TNFRSF1A mutations in Multiple Sclerosis (MS).
|
21567205 |
2012 |
|
TNFRSF1A
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
|
21833088 |
2011 |
|
TNFRSF1A
|
0.500 |
Biomarker
|
disease |
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
|
0.500 |
AlteredExpression
|
disease |
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
Multiple sclerosis. TNFRSF1A, TRAPS and multiple sclerosis.
|
19794511 |
2009 |
|
TNFRSF1A
|
0.500 |
Biomarker
|
disease |
BEFREE |
Collectively, our data illustrate that TNFR1 is a promising therapeutic target in MS.
|
29057962 |
2017 |