Variant "Haplotype:(rs7925131,rs7942159,rs1138693,rs66460720:CCC-)"
Search result: 1 record
Variant information
Gene:
Haplotype 
Variant:
Haplotype:(rs7925131,rs7942159,rs1138693,rs66460720:CCC-) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Familial Combined Hyperlipidemia (DOID_13809)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P =0.039, OR=1.52, 95% CI:1.02–2.28 
    Effect:
    PNPLA2 haplotypes were associated with lower risk of FCHL.
    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.