|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
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 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
In conclusion, our results provide support for a sex- and HLA-DRB1*15:01-independent association of TNFRSF1A rs1800</span>693 SNP with MS susceptibility, but not with age at disease onset, severity or rate of disability accumulation.
|
30009568 |
2018 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
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 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
C |
0.880 |
GeneticVariation |
GWASCAT |
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
|
27386562 |
2016 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
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 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
The 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.
|
24174586 |
2013 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
G |
0.880 |
GeneticVariation |
GWASCAT |
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
|
24076602 |
2013 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple sclerosis.
|
23624563 |
2013 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
This indicates that the clinical experience with these drugs parallels the disease association of rs1800693, and that the MS-associated TNFR1 variant mimics the effect of TNF-blocking drugs.
|
22801493 |
2012 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
G |
0.880 |
GeneticVariation |
GWASDB |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
|
21833088 |
2011 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
G |
0.880 |
GeneticVariation |
GWASCAT |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
|
21833088 |
2011 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.880 |
GeneticVariation |
BEFREE |
In the recently published meta-analysis of multiple sclerosis genome-wide association studies De Jager et al. identified three single nucleotide polymorphisms associated to MS: rs17824933 (CD6), rs1800693 (TNFRSF1A) and rs17445836 (61.5 kb from IRF8).
|
21552549 |
2011 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
C |
0.880 |
GeneticVariation |
GWASDB |
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
|
19525953 |
2009 |
|
rs1800693
|
TNFRSF1A
|
Multiple Sclerosis
|
C |
0.880 |
GeneticVariation |
GWASCAT |
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
|
19525953 |
2009 |
|
rs4149576
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.700 |
GeneticVariation |
GWASDB |
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
|
19525953 |
2009 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
The SMR for R92Q in our pediatric MS population was 4.6 (95% CI 1.7-10.0), 7.0 (95% CI 2.6-15.2), and 13.6 (95% CI 5.0-29.7), depending on reference population.
|
28927886 |
2018 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
On the other hand, no association could be found between rs4149584 and MS risk (GA + AA vs. GG: pcorr = 1.00; OR = 1.25; 95% CI = 0.71-2.21).
|
30009568 |
2018 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
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 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 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
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.
|
24174586 |
2013 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
R92Q mutation was more frequent in MS patients as compared to controls.
|
21567205 |
2012 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with the autoinflammatory disease Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) who suffer from demyelinating disease have been described, and one of the milder TRAPS mutations (R92Q in the TNFRSF1A gene) has been suggested as a risk factor for multiple sclerosis (MS).
|
21565411 |
2011 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS.
|
22059991 |
2011 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis.
|
20876156 |
2010 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
A genome-wide association study has identified the R92Q variant of the TNFRSF1A gene as a new susceptibility locus for multiple sclerosis.
|
19794511 |
2009 |
|
rs4149584
|
TNFRSF1A
|
Multiple Sclerosis
|
|
0.100 |
GeneticVariation |
BEFREE |
Twenty TNFRSF1A R92Q carriers had MS according to the McDonald criteria, and 1 had clinically isolated syndrome.
|
19029521 |
2008 |