Gene "PTPN22"
Found 1 record
Gene information
Gene symbol:
PTPN22
See related:
Ensembl: ENSG00000134242, Gene ID: 26191
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    PTPN22:c.-1123C>G
    Gene:
    PTPN22
    Genomic location:
    chr1:114415368
    dbSNP ID:
    rs2488457
    Target disease:
    Autoimmune Hypersensitivity Disease(DOID_417)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0258 
    Effect:
    The -1123G > C SNP in the PTPN22 gene promoter and HLA DRB1*0405-DQB1*0401 might influence the concurrence of systemic and organ-specific ADs in patients with type 1 diabetes.
    Reference:
    PMID29762907
    Title:
    Genetic differences between type 1 diabetes with and without other autoimmune diseases.
    Species studied:
    Human
    Abstract:
    Clusters of autoimmune diseases (ADs) are present in some people with type 1 diabetes. This clustering suggests the existence of common genetic backgrounds for abnormal autoimmunity in these individuals. However, the genetic differences between type 1 diabetes patients with and without other ADs are not well known.