Gene "CTSB"
Found 3 records
Gene information
Gene symbol:
CTSB
See related:
Ensembl: ENSG00000164733, Gene ID: 1508
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
3 
Disorder:
1 
Vriant:
3 
Reference:
1 
Effect type:
Penetrance(3)  
Modifier effect:
Altered incidence(3)  
Details：
  • Variant 1:
    CTSB:c.C595T
    Gene:
    CTSB
    Genomic location:
    dbSNP ID:
    Target disease:
    Tropical Pancreatitis(Orphanet_103918)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    P=0.001 
    Effect:
    These variants may be critical as a trigger for cationic trypsinogen activation.
    Reference:
    PMID16492714
    Title:
    Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis.
    Species studied:
    Human
    Abstract:
    Tropical calcific pancreatitis (TCP) is a type of chronic pancreatitis unique to countries in the tropics. Mutations in pancreatic secretory trypsin inhibitor (SPINK1) rather than cationic trypsinogen (PRSS1) explain the disease in only 50% of TCP patients. As cathepsin B (CTSB) is known to activate cationic trypsinogen, we attempted to understand the role of CTSB mutations in TCP. Evidence of epistatic interaction was investigated with the previously associated N34S SPINK1 allele, a variant considered to be a modifier rather than a true susceptibility allele.
  • Variant 2:
    CTSB:c.76C>G(p.Leu26Val)
    Gene:
    CTSB
    Genomic location:
    chr8:11710888
    dbSNP ID:
    rs12338
    Target disease:
    Tropical Pancreatitis(Orphanet_103918)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=2.15, 95% CI: 1.60-2.90, P=0.009 
    Effect:
    These variants may be critical as a trigger for cationic trypsinogen activation.
    Reference:
    PMID16492714
    Title:
    Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis.
    Species studied:
    Human
    Abstract:
    Tropical calcific pancreatitis (TCP) is a type of chronic pancreatitis unique to countries in the tropics. Mutations in pancreatic secretory trypsin inhibitor (SPINK1) rather than cationic trypsinogen (PRSS1) explain the disease in only 50% of TCP patients. As cathepsin B (CTSB) is known to activate cationic trypsinogen, we attempted to understand the role of CTSB mutations in TCP. Evidence of epistatic interaction was investigated with the previously associated N34S SPINK1 allele, a variant considered to be a modifier rather than a true susceptibility allele.
  • Variant 3:
    CTSB:c.157A>G(p.Ser53Gly)
    Gene:
    CTSB
    Genomic location:
    chr8:11710174
    dbSNP ID:
    rs1803250
    Target disease:
    Tropical Pancreatitis(Orphanet_103918)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    P=0.008 
    Effect:
    These variants may be critical as a trigger for cationic trypsinogen activation.
    Reference:
    PMID16492714
    Title:
    Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis.
    Species studied:
    Human
    Abstract:
    Tropical calcific pancreatitis (TCP) is a type of chronic pancreatitis unique to countries in the tropics. Mutations in pancreatic secretory trypsin inhibitor (SPINK1) rather than cationic trypsinogen (PRSS1) explain the disease in only 50% of TCP patients. As cathepsin B (CTSB) is known to activate cationic trypsinogen, we attempted to understand the role of CTSB mutations in TCP. Evidence of epistatic interaction was investigated with the previously associated N34S SPINK1 allele, a variant considered to be a modifier rather than a true susceptibility allele.