Variant "Haplotype:(NRF-1:rs7781972,TFAM:rs1100613)"
Search result: 1 record
Variant information
Gene:
Haplotype 
Variant:
Haplotype:(NRF-1:rs7781972,TFAM:rs1100613) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Target disease:
    Huntington's Disease (DOID_12858)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    P<0.003 
    Effect:
    With the addition of each SNP-SNP interaction, along with each SNP's respective main effect, the variability in adjusted log motor AO increased
    Reference:
    PMID21595933
    Title:
    PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease.
    Species studied:
    Human
    Abstract:
    Huntington disease (HD) is an inherited neurodegenerative disease caused by an abnormal expansion of a CAG repeat in the huntingtin HTT (HD) gene. The primary genetic determinant of the age at onset (AO) is the length of the HTT CAG repeat; however, the remaining genetic contribution to the AO of HD has largely not been elucidated. Recent studies showed that impaired functioning of the peroxisome proliferator-activated receptor gamma coactivator 1a (PGC-1alpha) contributes to mitochondrial dysfunction and appears to play an important role in HD pathogenesis. Further genetic evidence for involvement of PGC-1alpha in HD pathogenesis was generated by the findings that sequence variations in the PPARGC1A gene encoding PGC-1alpha exert modifying effects on the AO in HD. In this study, we hypothesised that polymorphisms in PGC-1alpha downstream targets might also contribute to the variation in the AO.