Variant "NRF1:c.90C>T(p.Asp30Asp)"
Search result: 1 record
Variant information
Gene:
NRF1 
Variant:
NRF1:c.90C>T(p.Asp30Asp) 
Genomic location:
chr7:129330353(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001293164.1:c.90C>T(p.Asp30Asp)
protein_coding NM_001293163.1:c.573C>T(p.Asp191Asp)
protein_coding NM_005011.4:c.573C>T(p.Asp191Asp)
protein_coding NM_001040110.1:c.573C>T(p.Asp191Asp)
dbSNP ID:
rs3735006  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Huntington's Disease (DOID_12858)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P<0.05 
    Effect:
    Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.
    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.