|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |