Gene "UGCG"
Found 2 records
Gene information
Gene symbol:
UGCG
See related:
Ensembl: ENSG00000148154, Gene ID: 7357
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(2)  
Details：
  • Variant 1:
    UGCG:c.98+50A>G
    Gene:
    UGCG
    Genomic location:
    dbSNP ID:
    Target disease:
    Gaucher's Disease Type I(DOID_0110957)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P<0.05 
    Effect:
    The c.-232_-241ins10 and c.98+50A>G variants are modifying factors of Gaucher disease severity,
    Reference:
    PMID23913449
    Title:
    Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.
    Species studied:
    Human
    Abstract:
    The extreme phenotypic variability of patients with Gaucher disease (GD) is not completely explained by glucocerebrosidase gene mutations. It has been proposed that genetic modifiers might influence GD phenotype. We examined seven polymorphisms of the glucosylceramide synthase gene (UGCG) and their correlation with severity of GD. Five UGCG variants were significantly associated with disease severity, according to the DS3 scoring system: c.-295C>T, c.-232_-241ins10, c.98+50A>G, c.98+68A>T, and c.861A>G. Heterozygous [N370S]+[L444P] patients with c.[-232_-241ins10;98+50G] haplotype had a significantly lower DS3 score in relation to patients carrying only one of these polymorphisms. Electrophoretic mobility shift assay analysis showed an increased nuclear protein binding ability for the G allele at the cDNA position c.98+50, as well as an altered pattern for the c.-232_-241ins10 allele. The promoter activity of the haplotypes decreased significantly with respect to wild type activity in HepG2 and COS-7 cells (-14% and -16% for the c.[-232_-241ins10;98+50A] haplotype, -44% and -25% for c.[-222nonins;98+50G] haplotypes, and -64% and -75% for c.[-232_-241ins10;98+50G] haplotype, respectively). These data indicate that the c.-232_-241ins10 and c.98+50A>G variants are modifying factors of GD severity, which can partly explain the variability in severity of the disease.
  • Variant 2:
    UGCG:c.-232_-241ins10
    Gene:
    UGCG
    Genomic location:
    dbSNP ID:
    Target disease:
    Gaucher's Disease Type I(DOID_0110957)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P<0.05 
    Effect:
    The c.-232_-241ins10 and c.98+50A>G variants are modifying factors of Gaucher disease severity,
    Reference:
    PMID23913449
    Title:
    Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.
    Species studied:
    Human
    Abstract:
    The extreme phenotypic variability of patients with Gaucher disease (GD) is not completely explained by glucocerebrosidase gene mutations. It has been proposed that genetic modifiers might influence GD phenotype. We examined seven polymorphisms of the glucosylceramide synthase gene (UGCG) and their correlation with severity of GD. Five UGCG variants were significantly associated with disease severity, according to the DS3 scoring system: c.-295C>T, c.-232_-241ins10, c.98+50A>G, c.98+68A>T, and c.861A>G. Heterozygous [N370S]+[L444P] patients with c.[-232_-241ins10;98+50G] haplotype had a significantly lower DS3 score in relation to patients carrying only one of these polymorphisms. Electrophoretic mobility shift assay analysis showed an increased nuclear protein binding ability for the G allele at the cDNA position c.98+50, as well as an altered pattern for the c.-232_-241ins10 allele. The promoter activity of the haplotypes decreased significantly with respect to wild type activity in HepG2 and COS-7 cells (-14% and -16% for the c.[-232_-241ins10;98+50A] haplotype, -44% and -25% for c.[-222nonins;98+50G] haplotypes, and -64% and -75% for c.[-232_-241ins10;98+50G] haplotype, respectively). These data indicate that the c.-232_-241ins10 and c.98+50A>G variants are modifying factors of GD severity, which can partly explain the variability in severity of the disease.