RGD Reference Report - Association between the PPARA L162V polymorphism and plasma lipid levels: the Framingham Offspring Study. - Rat Genome Database

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Association between the PPARA L162V polymorphism and plasma lipid levels: the Framingham Offspring Study.

Authors: Tai, ES  Demissie, S  Cupples, LA  Corella, D  Wilson, PW  Schaefer, EJ  Ordovas, JM 
Citation: Tai ES, etal., Arterioscler Thromb Vasc Biol. 2002 May 1;22(5):805-10.
RGD ID: 1580226
Pubmed: PMID:12006394   (View Abstract at PubMed)

Peroxisome proliferator activated receptor (PPAR) alpha is a member of the nuclear receptor superfamily that regulates key proteins involved in fatty acid oxidation, extracellular lipid metabolism, hemostasis, and inflammation. A L162V polymorphism at the PPARA locus has been associated with alterations in lipid and apolipoprotein concentrations. We studied the association among lipids, lipoproteins, and apolipoproteins and the presence of the L162V polymorphism in 2373 participants (1128 men and 1244 women) in the Framingham Offspring Study. The frequency of the less common allele (V162) was 0.069. The V162 allele was associated with increased serum concentrations of total and LDL cholesterol in men (P=0.0012 and P=0.0004, respectively) and apolipoprotein B in men (P=0.009) and women (P=0.03 after adjustment for age, body mass index, smoking, and use of beta-blockers, diuretics or estrogens). Apolipoprotein (apo) C-III concentrations were higher in carriers of the V162 allele. The association of the L162V polymorphism on LDL cholesterol concentration was greatest in those who also carried the E2 allele at the APOE locus and the G allele at the APOC3 3238C>G polymorphism. This suggests that alterations in triglyceride-rich lipoprotein metabolism may be involved in the generation of the increase in LDL cholesterol observed with the L162V PPARA polymorphism.

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Elevated circulating apolipoprotein B concentration  IAGP 1580226DNA:missense mutation:exon 5:p.L162VRGD 
Elevated circulating apolipoprotein C-III concentration  IAGP 1580226DNA:missense mutation:exon 5:p.L162V RGD 
Hypercholesterolemia  IAGP 1580226DNA:missense mutation:exon 5:p.L162VRGD 
Increased LDL cholesterol concentration  IAGP 1580226DNA:missense mutation:exon 5:p.L162VRGD 
Objects Annotated

Genes (Homo sapiens)
PPARA  (peroxisome proliferator activated receptor alpha)


Additional Information