Gene "TOR1A"
Found 3 records
Gene information
Gene symbol:
TOR1A
See related:
Ensembl: ENSG00000136827, Gene ID: 1861
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
3 
Disorder:
3 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(2) ,Penetrance(1)  
Modifier effect:
Altered incidence(1) ,Altered severity(1) ,Risk factor(1)  
Details：
  • Variant 1:
    TOR1A:rs1801968
    Gene:
    TOR1A
    Genomic location:
    dbSNP ID:
    rs1801968
    Target disease:
    Autosomal Dominant Torsion Dystonia 1(NCIT_C118780)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.001 
    Effect:
    The polymorphism is associated with the disease severity
    Reference:
    PMID18519876
    Title:
    Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    Species studied:
    Human
    Abstract:
    No data
  • Variant 2:
    TOR1A:rs1801968
    Gene:
    TOR1A
    Genomic location:
    dbSNP ID:
    rs1801968
    Target disease:
    Early-onset generalized limb-onset dystonia(Orphanet_256)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.001 
    Effect:
    Modify Torsion dystonia phenotype
    Reference:
    PMID18519876
    Title:
    Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    Species studied:
    Human
    Abstract:
    No data
  • Variant 3:
    TOR1A:p.Asp216His
    Gene:
    TOR1A
    Genomic location:
    dbSNP ID:
    Target disease:
    Dystonia(DOID_543)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    A highly protective effect of the H allele in trans with the GAG deletion
    Reference:
    PMID17503336
    Title:
    Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
    Species studied:
    Human
    Abstract:
    A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. To gain insight into genetic factors that may influence penetrance, we evaluated three DYT1 single-nucleotide polymorphisms, including D216H, a coding-sequence variation that moderates the effects of the DYT1 GAG deletion in cellular models. We tested DYT1 GAG-deletion carriers with (n=119) and without (n=113) clinical signs of dystonia and control individuals (n=197) and found the frequency of the 216H allele to be increased in GAG-deletion carriers without dystonia and to be decreased in carriers with dystonia, compared with the control individuals. Analysis of haplotypes demonstrated a highly protective effect of the H allele in trans with the GAG deletion; there was also suggestive evidence that the D216 allele in cis is required for the disease to be penetrant. Our findings establish, for the first time, a clinically relevant gene modifier of DYT1.