Gene "PCSK7"
Found 1 record
Gene information
Gene symbol:
PCSK7
See related:
Ensembl: ENSG00000160613, Gene ID: 9159
Additive variants :
Detected
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:
    PCSK7:c.1156-1135C>G
    Gene:
    PCSK7
    Genomic location:
    chr11:117091609
    dbSNP ID:
    rs236918
    Target disease:
    Hemochromatosis Type 1(DOID_0111029)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0018 
    Effect:
    PCSK7 rs236918 C allele is a risk factor for cirrhosis development in Italian patients with HFE-Hemochromatosis.
    Reference:
    PMID26868056
    Title:
    Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis.
    Species studied:
    Human
    Abstract:
    p.Cys282Tyr homozygosity is the prevalent genotype in (HFE)-related Hereditary Hemochromatosis with low penetrance and variable expression. However, liver cirrhosis and hepatocellular carcinoma remain the main causes of mortality in these patients. Detection of genetic modifiers identifying patients at risk for liver damage would be relevant for their clinical management. We evaluated proprotein convertase 7 (PCSK7) rs236918 as genetic marker of risk of liver fibrosis in an Italian cohort of p.Cys282Tyr homozygotes.