Variant "PNPLA2:c.1367C>T(p.Pro456Leu)"
Search results: 3 records
Variant information
Gene:
PNPLA2 
Variant:
PNPLA2:c.1367C>T(p.Pro456Leu) 
Genomic location:
chr11:824714(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_020376.3:c.1367C>T(p.Pro456Leu)
protein_coding NM_001286606.1:c.-3894C>T
protein_coding NM_173584.4:c.-3894C>T
Alias:
PNPLA2:c.C1367C, PNPLA2:c.1367C>T 
dbSNP ID:
rs758343578  
GWAS trait:
no data 
Modifier statisitcs
Record:
3 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(3)  
Modifier effect:
Risk factor(3)  
Details：
  • Target disease:
    Familial Combined Hyperlipidemia (DOID_13809)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    PNPLA2 haplotypes were associated with lower risk of FCHL. 
    Effect:
    These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.
    Alias in reference:
    PNPLA2:c.1367C>T
    Reference:
    PMID20832801
    Title:
    Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia.
    Species studied:
    Human
    Abstract:
    Familial combined hyperlipidemia (FCHL) has been associated with abnormalities in fatty acid metabolism. The adipose triglyceride lipase (PNPLA2) plays a pivotal role in the turnover of fatty acids in adipose tissue and liver. This study was designed to evaluate whether selected PNPLA2 variants may influence the susceptibility to FCHL or its lipid-related traits.
  • Target disease:
    Familial Combined Hyperlipidemia (DOID_13809)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    PNPLA2 haplotypes were associated with lower risk of FCHL. 
    Effect:
    These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.
    Alias in reference:
    PNPLA2:c.1367C>T(p.Pro456Leu)
    Reference:
    PMID20832801
    Title:
    Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia.
    Species studied:
    Human
    Abstract:
    Familial combined hyperlipidemia (FCHL) has been associated with abnormalities in fatty acid metabolism. The adipose triglyceride lipase (PNPLA2) plays a pivotal role in the turnover of fatty acids in adipose tissue and liver. This study was designed to evaluate whether selected PNPLA2 variants may influence the susceptibility to FCHL or its lipid-related traits.
  • Target disease:
    Familial Combined Hyperlipidemia (DOID_13809)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    PNPLA2 haplotypes were associated with lower risk of FCHL. 
    Effect:
    These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.
    Alias in reference:
    PNPLA2:c.C1367C
    Reference:
    PMID20832801
    Title:
    Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia.
    Species studied:
    Human
    Abstract:
    Familial combined hyperlipidemia (FCHL) has been associated with abnormalities in fatty acid metabolism. The adipose triglyceride lipase (PNPLA2) plays a pivotal role in the turnover of fatty acids in adipose tissue and liver. This study was designed to evaluate whether selected PNPLA2 variants may influence the susceptibility to FCHL or its lipid-related traits.