TNFRSF1A, TNF receptor superfamily member 1A, 7132

N. diseases: 487; N. variants: 48
Disease: Multiple Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
Multiple Sclerosis 		0.100 GeneticVariation BEFREE R92Q mutation was more frequent in MS patients as compared to controls. 21567205 2012
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
Multiple Sclerosis 		0.100 GeneticVariation BEFREE Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. 20876156 2010
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
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
dbSNP: rs4149584
rs4149584
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0026769
Disease:
Multiple Sclerosis 		0.100 GeneticVariation BEFREE All R92Q heterozygotes had similar symptoms, including arthralgias/arthritis, myalgias, urticarial rash, and severe fatigue, which began before the onset of MS. 17665448 2007