Gene "PNPLA2"
Found 10 records
Gene information
Gene symbol:
PNPLA2
See related:
Ensembl: ENSG00000177666, Gene ID: 57104
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
10 
Disorder:
1 
Vriant:
8 
Reference:
1 
Effect type:
Expressivity(10)  
Modifier effect:
Risk factor(10)  
Details：
  • Variant 1:
    PNPLA2:c.T5888T
    Gene:
    PNPLA2
    Genomic location:
    dbSNP ID:
    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.
    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.
  • Variant 2:
    PNPLA2:c.T3721T
    Gene:
    PNPLA2
    Genomic location:
    dbSNP ID:
    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.
    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.
  • Variant 3:
    PNPLA2:c.T3721C
    Gene:
    PNPLA2
    Genomic location:
    dbSNP ID:
    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.
    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.
  • Variant 4:
    PNPLA2:c.C5888T
    Gene:
    PNPLA2
    Genomic location:
    dbSNP ID:
    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.
    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.
  • Variant 5:
    PNPLA2:c.C5888C
    Gene:
    PNPLA2
    Genomic location:
    dbSNP ID:
    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.
    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.
  • Variant 6:
    PNPLA2:c.C3721C
    Gene:
    PNPLA2
    Genomic location:
    dbSNP ID:
    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.
    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.
  • Variant 7:
    PNPLA2:c.1442T>C(p.Leu481Pro)
    Gene:
    PNPLA2
    Genomic location:
    chr11:824789
    dbSNP ID:
    rs1138693
    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.
    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.
  • Variant 8:
    PNPLA2:c.1367C>T(p.Pro456Leu)
    Gene:
    PNPLA2
    Genomic location:
    chr11:824714
    dbSNP ID:
    rs758343578
    Alias:
    PNPLA2:c.C1367C, PNPLA2:c.1367C>T
    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.
    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.
  • Variant 9:
    PNPLA2:c.1367C>T(p.Pro456Leu)
    Gene:
    PNPLA2
    Genomic location:
    chr11:824714
    dbSNP ID:
    rs758343578
    Alias:
    PNPLA2:c.C1367C, PNPLA2:c.1367C>T
    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.
    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.
  • Variant 10:
    PNPLA2:c.1367C>T(p.Pro456Leu)
    Gene:
    PNPLA2
    Genomic location:
    chr11:824714
    dbSNP ID:
    rs758343578
    Alias:
    PNPLA2:c.C1367C, PNPLA2:c.1367C>T
    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.
    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.