Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gene-function studies have revealed mechanisms through which SLE-associated alleles of IFIH1, TNFAIP3, IRF5, and PRDM1 likely contribute to the development of autoimmunity.
|
30672908 |
2019 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
There is strong genetic evidence for a link between cytoplasmic RNA sensing pathways (RIG-I/MDA5) and SLE, both in human patients and murine models, however questions still remain regarding pathway initiation, cell types involved and downstream effects.
|
31681326 |
2019 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
A missense mutation in <i>IFIH1</i> encoding a cytoplasmic viral RNA sensor MDA5 has recently been identified in the SMS patients as well as in patients with a monogenic form of lupus.
|
31366715 |
2019 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
Biomarker
|
disease |
BEFREE |
Among these, IFIH1 encodes for MDA5, a cytosolic double-stranded RNA receptor, and is responsible for AGS type 7.
|
31698194 |
2019 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We concluded that IFIH1 rs1990760_T and TYK2 rs2304256_C alleles were significantly associated with SLE, and IL-10 rs1800896 GG homozygote might have an enhancement effect on SLE risk.
|
30171347 |
2018 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, IFIH1 polymorphisms (rs1990760 and rs3747517) were associated with SLE susceptibility and rs1990760 risk T allele related with IL-18 and granzyme B serum levels in SLE patients.
|
29930297 |
2018 |
Lupus Erythematosus, Systemic
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This longitudinal study focused on the relationship between lupus activity and the levels of intracellular proteins, phosphorylated interferon regulatory factor 7 (pIRF7), caspase-9 and -10, and mitochondrial antiviral signaling protein (MAVS) and melanoma differentiation-associated protein 5 (MDA5).
|
30394862 |
2018 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gene-function studies have revealed mechanisms through which SLE-associated alleles of IFIH1, TNFAIP3, IRF5, and PRDM1 likely contribute to the development of autoimmunity.
|
30540578 |
2018 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Using a newly developed RNase-protection/RNA-seq approach, we demonstrate here that constitutive activation of MDA5 in AGS results from the loss of tolerance to cellular dsRNAs formed by Alu retroelements.
|
29395326 |
2018 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All studied individuals with AGS were noted to have elevated IFN signature scores (Mann-Whitney p < .001), with the highest levels in individuals with IFIH1 mutations (Mann-Whitney p < .0001).
|
30219631 |
2018 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interferon signature was elevated in one subject who presented also a mutation of the IFIH1 gene.AGS should be considered in sine-causa tetraparesis.
|
30593198 |
2018 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
These data suggest that IFIH1 may contribute to SLE pathogenesis via altered inflammatory mechanisms.
|
28234905 |
2017 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is the first association analysis on IFIH1 polymorphisms and SLE susceptibility in Brazilian populations.
|
27813554 |
2016 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
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 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause autosomal dominant forms of Aicardi-Goutières syndrome was identified.
|
26833990 |
2016 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
Biomarker
|
disease |
BEFREE |
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
|
27643693 |
2016 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
|
26502338 |
2015 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This finding adds a new genetic causation for Mendelian lupus and greatly extends the disease spectrum associated with mutations in IFIH1 (ranging from inflammatory encephalopathy to prototypic systemic autoimmune disease).
|
25777993 |
2015 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
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 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
Biomarker
|
disease |
BEFREE |
IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome.
|
25620204 |
2015 |
AICARDI-GOUTIERES SYNDROME
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The same mutation in IFIH1 was recently identified in patients with Aicardi-Goutières syndrome, a rare neuroimmunologic disorder associated with elevated levels of type I interferon (IFN).
|
25777993 |
2015 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
MGD |
We established a mutant mouse line bearing MDA5 mutation by ENU mutagenesis, which spontaneously developed lupus-like autoimmune symptoms without viral infection.
|
24530055 |
2014 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The odds ratio (OR) for minor allele homozygotes versus major allele homozygotes suggested a protective effect of the IFIH1 rs1990760 SNP for SLE in the ODE cohort [OR 0.52, 95 % confidence intervals (95 % CI) 0.31-0.88, Pcorr.
|
24719229 |
2014 |
Lupus Erythematosus, Systemic
|
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 |