Variant "UGT1A1:promoter(TA)n"
Search result: 1 record
Variant information
Gene:
UGT1A1 
Variant:
UGT1A1:promoter(TA)n 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Assessment of genotype–phenotype associations, P=0.002 
    Effect:
    The UGT1A1 gene promoter polymorphism is a major genetic risk factor modifying the frequency and age-at-onset of cholelithiasis in SCA patients.
    Reference:
    PMID15710570
    Title:
    Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia.
    Species studied:
    Human
    Abstract:
    High levels of erythrocyte destruction in sickle cell anemia (SCA) result in chronic hyperbilirubinemia, with cholelithiasis occurring in a subset of patients. We investigated whether susceptibility to cholelithiasis in SCA was associated with the promoter polymorphism of the 5-diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene encoding a key enzyme in bilirubin catabolism.