Gene "IRF5"
Found 2 records
Gene information
Gene symbol:
IRF5
See related:
Ensembl: ENSG00000128604, Gene ID: 3663
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Variant 1:
    IRF5:c.-8169G>A
    Gene:
    IRF5
    Genomic location:
    chr7:128573967
    dbSNP ID:
    rs4728142
    Target disease:
    Interstitial Pulmonary Abnormality(HP:0006530)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=0.75, 95% CI: 0.62 to 0.90, P=0.002 
    Effect:
    The IRF5 SNP rs4728142 confers higher risk for SSc, but also longer survival with milder ILD
    Reference:
    PMID22440820
    Title:
    IRF5 polymorphism predicts prognosis in patients with systemic sclerosis.
    Species studied:
    Human
    Abstract:
    The first genome-wide association study (GWAS) of systemic sclerosis (SSc) demonstrated three non-major histocompatibility complex (MHC) susceptibility loci. The goal of this study was to investigate the impact of these gene variants on survival and severity of interstitial lung disease (ILD) in SSc.
  • Variant 2:
    IRF5:c.-12+2G>T
    Gene:
    IRF5
    Genomic location:
    chr7:128578301
    dbSNP ID:
    rs2004640
    Target disease:
    Systemic Scleroderma(DOID_418)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=8.92×10(-5), OR=1.31, 95% CI: 1.14–1.49 
    Effect:
    Combination of the risk alleles at STAT4 SNP rs7574865 and IRF5 SNP rs2004640 leads to increased risk for ILD, highlighting that studies of genetic interactions may be relevant for disease
    Reference:
    PMID19644887
    Title:
    STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis.
    Species studied:
    Human
    Abstract:
    Systemic sclerosis (SSc) belongs to the group of connective tissue disorders (CTDs), among which are several disorders characterized by a type I interferon (IFN) signature. The recent identification of an association between IRF5 and SSc further highlights a key role for IFN. STAT4, which encodes STAT-4, contributes to IFN signaling, and its genetic variants were found to be associated with CTDs. The aim of this study was to determine whether the STAT4 rs7574865 single-nucleotide polymorphism is associated with SSc, and whether it interacts with IRF5.