Gene "DBH"
Found 1 record
Gene information
Gene symbol:
DBH
See related:
Ensembl: ENSG00000123454, Gene ID: 1621
Additive variants :
Undetected
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:
    DBH:c.-1021C>T
    Gene:
    DBH
    Genomic location:
    dbSNP ID:
    rs1611115
    Target disease:
    Parkinsonism(HP:0001300)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    DBH -1021C-->T as a risk factor or age at onset modifier in PD.
    Reference:
    PMID17503507
    Title:
    DBH -1021C-->T does not modify risk or age at onset in Parkinson's disease.
    Species studied:
    Human
    Abstract:
    DBH is a candidate gene in Parkinson's disease (PD) and contains a putative functional polymorphism (-1021C-->T) that has been reported to modify PD susceptibility. We examined -1021C-->T in a sample of 1,244 PD patients and 1,186 unrelated control subjects. There was no significant difference in allele (p = 0.14) or genotype (p = 0.26) frequencies between the two groups. A similar result was obtained after pooling our data with those previously published. Furthermore, we found no evidence for an effect of genotype on age at onset among patients. Our findings argue against DBH -1021C-->T as a risk factor or age at onset modifier in PD.