Variant "STAT4:rs7574865"
Search result: 1 record
Variant information
Gene:
STAT4 
Variant:
STAT4:rs7574865 
dbSNP ID:
rs7574865  
GWAS trait:
systemic lupus erythematosus,Sjogren syndrome,biliary liver cirrhosis,hepatocellular carcinoma,rheumatoid arthritis,systemic scleroderma,primary biliary cirrhosis,immune system disease 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Systemic Scleroderma (DOID_418)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.001, OR=1.29, 95% CI: 1.11-1.51 
    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.