Gene "PPARG"
Found 2 records
Gene information
Gene symbol:
PPARG
See related:
Ensembl: ENSG00000132170, Gene ID: 5468
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Variant 1:
    PPARG:c.478C>T
    Gene:
    PPARG
    Genomic location:
    dbSNP ID:
    Target disease:
    Colorectal Cancer(DOID_9256)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.73, 95% CI: (0.56, 0.95) 
    Effect:
    The reduction in risk of colorectal cancer with regular NSAID use
    Reference:
    PMID16141797
    Title:
    No evidence that polymorphisms in CYP2C8, CYP2C9, UGT1A6, PPARdelta and PPARgamma act as modifiers of the protective effect of regular NSAID use on the risk of colorectal carcinoma.
    Species studied:
    Human
    Abstract:
    Regular continuous non-steroidal anti-inflammatory drug (NSAID) use has been associated with a reduction in risk of colorectal cancer. Our objective was to investigate whether or not a number of the polymorphic genes involved in the metabolism of NSAIDs, including cytochrome P450 s (CYPs), act as modifiers of this protective effect.
  • Variant 2:
    PPARG:c.34C>G(p.Pro12Ala)
    Gene:
    PPARG
    Genomic location:
    chr3:12393125
    dbSNP ID:
    rs1801282
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0045 
    Effect:
    The Pro12Ala variant of PPARgamma2 is associated with T1DM, the minor Ala allele conferring a reduced risk.
    Reference:
    PMID16367885
    Title:
    IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do amino acid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes
    Species studied:
    Human
    Abstract:
    Type 1 diabetes mellitus (T1DM) is a chronic disorder primarily triggered by environmental and immunological factors in genetically susceptible individuals. Despite the fact that there are indications of common aetiological features of T1DM and type 2 diabetes (T2DM), variation in genes involved in insulin secretion and insulin signalling has to a large extent been ignored as potential modifiers in the pathogenesis of T1DM. Recent studies suggest, however, that proven T2DM susceptibility gene variants may be involved in the pathogenesis of T1DM. The objective of this study was to estimate the impact of four selected amino acid polymorphisms -IRS-1 Gly972Arg, Kir6.2 Glu23Lys, HNF-1alpha Ala98Val and PPARgamma2 Pro12Ala in a Danish population of T1DM families.