|
AICARDI-GOUTIERES SYNDROME
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study suggests that the IFIH1 mutations are responsible for the AGS phenotype due to an excessive production of type I interferon.
|
24995871 |
2014 |
|
AICARDI-GOUTIERES SYNDROME
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
|
24686847 |
2014 |
|
AICARDI-GOUTIERES SYNDROME
|
0.700 |
Biomarker
|
disease |
CTD_human |
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
|
24686847 |
2014 |
|
AICARDI-GOUTIERES SYNDROME
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
|
25080300 |
2014 |
|
AICARDI-GOUTIERES SYNDROME
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
This study suggests that the IFIH1 mutations are responsible for the AGS phenotype due to an excessive production of type I interferon.
|
24995871 |
2014 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our study represents the first report demonstrating an association of the IFIH1 rs1990760 polymorphism with SLE susceptibility in a Chinese population.
|
23108955 |
2013 |
|
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Together with molecular modeling, our results establish a distinct role for IFIH1 in apoptosis, inflammation, and autoantibody production, and explain the molecular basis of these three risk alleles for SLE pathogenesis.
|
23441136 |
2013 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ten IKBKE SNVs and three IFIH1 SNVs were associated with SLE.
|
23535865 |
2013 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We studied the impact of the autoimmune-disease-associated IFIH1 rs1990760 (A946T) single nucleotide polymorphism upon IFN-α signaling in SLE patients in vivo.
|
21705624 |
2011 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Association analysis in the UK dataset and subsequent meta-analysis with the published data identified five SLE susceptibility genes reaching genome-wide levels of significance (P(comb)<5×10(-8)): NCF2 (P(comb) = 2.87×10(-11)), IKZF1 (P(comb) = 2.33×10(-9)), IRF8 (P(comb) = 1.24×10(-8)), IFIH1 (P(comb) = 1.63×10(-8)), and TYK2 (P(comb) = 3.88×10(-8)).
|
22046141 |
2011 |
|
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here, we hypothesized that altered expression or function of MAVS, a key molecule downstream of the viral sensors RIG-I and MDA-5, may impair antiviral cell signalling and thereby influence the risk for systemic lupus erythematosus (SLE), the prototype autoimmune disease.
|
21268286 |
2011 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition to the known association of HLA with IgAD, we identified association with a nonsynonymous variant in IFIH1 (rs1990760G>A, P = 7.3 x 10(-10)) which was previously associated with type 1 diabetes and systemic lupus erythematosus.
|
20694011 |
2010 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis.
|
20467774 |
2010 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P < 1 x 10(-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.
|
19838195 |
2009 |
|
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P < 1 x 10(-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.
|
19838195 |
2009 |
|
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
CTD_human |
A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P < 1 x 10(-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.
|
19838195 |
2009 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three very recent reports provide convincing statistical evidence (P < 10(-8)), at a genome-wide level, of the association of common polymorphisms with three different common diseases: systemic lupus erythematosus (IRF5), prostate cancer and type 1 diabetes (IFIH1 region).
|
16804532 |
2006 |
|
Singleton Merten syndrome
|
0.690 |
Biomarker
|
disease |
BEFREE |
Singleton-Merten Syndrome-like Skeletal Abnormalities in Mice with Constitutively Activated MDA5.
|
31366715 |
2019 |
|
Singleton Merten syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
R516Q mutation in Melanoma differentiation-associated protein 5 (MDA5) and its pathogenic role towards rare Singleton-Merten syndrome; a signature associated molecular dynamics study.
|
29429386 |
2019 |
|
Singleton Merten syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis.
|
30574673 |
2019 |
|
Singleton Merten syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder.
|
28319323 |
2017 |
|
Singleton Merten syndrome
|
0.690 |
Biomarker
|
disease |
BEFREE |
Our data indicate that both Singleton-Merten syndrome and neuroinflammation described in the context of MDA-5 gain-of-function constitute part of the same type I interferonopathy disease spectrum, and provide possible novel insight into the pathology of Jaccoud's arthropathy.
|
28605144 |
2017 |
|
Singleton Merten syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
More recently, mutations in IFIH1 were reported in a variety of neuroimmunological phenotypes, including Aicardi-Goutières syndrome, while a specific Arg822Gln mutation in IFIH1 was described in 3 discrete families with Singleton-Merten syndrome (SMS).
|
28475458 |
2017 |
|
Singleton Merten syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Within recent years, with the help of next generation sequencing techniques in syndromic families, mutations in the genes encoding for RIG-I and MDA5 have been identified to cause rare diseases including Aicardi-Goutières syndrome, Systemic Lupus Erythematosus in certain individuals as well as classic and atypical Singleton-Merten syndrome.
|
26993858 |
2016 |
|
Singleton Merten syndrome
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Our results further extend the phenotypic spectrum associated with mutations in IFIH1, indicating that the disease can be confined predominantly to the skin, while also highlighting phenotypic overlap with both Aicardi-Goutières syndrome and Singleton-Merten syndrome.
|
26284909 |
2015 |