Variant "IRF5:c.-8169G>A"
Search result: 1 record
Variant information
Gene:
IRF5 
Variant:
IRF5:c.-8169G>A 
Genomic location:
chr7:128573967(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001098629.2:c.-8169G>A
protein_coding NM_001098630.2:c.-8169G>A
protein_coding NM_001242452.2:c.-8169G>A
protein_coding NM_032643.4:c.-8169G>A
KCP-IRF5:n.128573967G>A
dbSNP ID:
rs4728142  
GWAS trait:
ankylosing spondylitis,psoriasis,ulcerative colitis,Crohn's disease,sclerosing cholangitis,systemic lupus erythematosus,inflammatory bowel disease,diastolic blood pressure,systolic blood pressure,hypertension,rheumatoid arthritis 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • 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.