Variant "XRCC1:c.26304C>T"
Search result: 1 record
Variant information
Gene:
Variant:
XRCC1:c.26304C>T 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
Disorder:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered response to ischemia(1)  
Detail:
  • Target disease:
    Ischemic Stroke (HP:0002140)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to ischemia 
    Evidence:
    T-test analysis, P<0.044; multivariate regression analysis, beta = 0.23, P<0.008 
    Effect:
    Our study suggests a major gene effect of the T allele of the C26304T polymorphism modulating the cerebral response to ischemia in non lacunar ischemic stroke.
    Reference:
    Title:
    Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke.
    Species studied:
    Human
    Abstract:
    Although there have been studies of the genetic risk factors in the development of stroke, there have been few investigations of role of genes in the cerebral response to ischemia. The brain responds to ischemia in a series of reactions that ultimately influence the volume of a stroke that, in general, correlates with disability. We hypothesize that polymorphisms in genes encoding proteins involved in these reactions could act as modifiers of this response and impact stroke volume. One of the pathways participating in the cerebral ischemic response involves reactive oxygen species which can cause oxidative damage to nucleic acids. DNA repair mechanisms are in place to protect against such damage and imply a role for DNA repair genes in the response of the brain to ischemia and are potential candidate genes for further investigation.