Variant "PPARG:c.34C>G(p.Pro12Ala)"
Search result: 1 record
Variant information
Gene:
PPARG 
Variant:
PPARG:c.34C>G(p.Pro12Ala) 
Genomic location:
chr3:12393125(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_015869.4:c.34C>G(p.Pro12Ala)
protein_coding NM_005037.5:c.-2-28078C>G
protein_coding NM_138712.3:c.-2-28078C>G
protein_coding NM_138711.3:c.-2-28078C>G
dbSNP ID:
rs1801282  
GWAS trait:
type II diabetes mellitus,body mass index,fasting blood insulin measurement 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • 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.