Variant "IRS2:c.3170G>A(p.Gly1057Asp)"
Search result: 1 record
Variant information
Gene:
IRS2 
Variant:
IRS2:c.3170G>A(p.Gly1057Asp) 
Genomic location:
chr13:110435231(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003749.2:c.3170G>A(p.Gly1057Asp)
dbSNP ID:
rs1805097  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Type 2 Diabetes Mellitus (DOID_9352)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    This meta-analysis suggested that D allele of G1057D polymorphism have a significant effect on reduced risk of T2DM, and obesity is a modifier of this association.
    Reference:
    PMID25959789
    Title:
    Association of the G1057D polymorphism in insulin receptor substrate 2 gene with type 2 diabetes mellitus: a meta-analysis.
    Species studied:
    Human
    Abstract:
    The G1057D polymorphism in insulin receptor substrate (IRS)-2 gene is associated with type 2 diabetes mellitus (T2DM) risk, but results in published literatures are controversial. In addition, the effect of obesity as a modifier on this association is also inconsistent. Thus, this meta-analysis was performed to assess the above-mentioned association.