Gene "GRIN2A"
Found 2 records
Gene information
Gene symbol:
GRIN2A
See related:
Ensembl: ENSG00000183454, Gene ID: 2903
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
1 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered onset time(1) ,Risk factor(1)  
Details：
  • Variant 1:
    GRIN2A:c.415-84729C>T
    Gene:
    GRIN2A
    Genomic location:
    chr16:10117137
    dbSNP ID:
    rs1969060
    Target disease:
    Huntington's Disease(DOID_12858)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Polymorphisms in the genes affect the age at onset of Huntington disease in Tunisian patients
    Reference:
    PMID25254119
    Title:
    Modulation at age of onset in tunisian huntington disease patients: implication of new modifier genes.
    Species studied:
    Human
    Abstract:
    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO) of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.
  • Variant 2:
    GRIN2A:c.415-84729C>T
    Gene:
    GRIN2A
    Genomic location:
    chr16:10117137
    dbSNP ID:
    rs1969060
    Target disease:
    Huntington's Disease(DOID_12858)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.046 
    Effect:
    These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.
    Reference:
    PMID21989477
    Title:
    NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
    Species studied:
    Human
    Abstract:
    Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the REGISTRY cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.