Gene "RSPO3"
Found 1 record
Gene information
Gene symbol:
RSPO3
See related:
Ensembl: ENSG00000146374, Gene ID: 84870
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:
    RSPO3:n.127068983T>C
    Gene:
    RSPO3
    Genomic location:
    chr6:127068983
    dbSNP ID:
    rs853974
    Target disease:
    Primary Sclerosing Cholangitis(DOID_0060643)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    Variant rs853974 at the RSPO3 gene locus shown to modulate the course of PSC
    Reference:
    PMID29055915
    Title:
    Search for Genetic Modifiers of PSC: Time to Increase the Number of Needles in the Haystack.
    Species studied:
    Human
    Abstract:
    Primary sclerosing cholangitis (PSC) belongs to the most obscure liver diseases. Patients with progressive PSC require liver transplantation as only therapeutic option. Previously several HLA- and non-HLA-associated PSC risk variants have been discovered, however their involvement in the development of PSC seems to be minor in comparison to environmental determinants. Lately, variant rs853974 at the RSPO3 gene locus has been shown to modulate the course of PSC. Here we briefly discuss the phenotypes related to this polymorphism and propose alternative directions of research that might help to identify new genetic modifiers of PSC progression.