rs543375884
This variant is located in the APOA5 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶APOA5 gene variation modulates the effects of dietary fat intake on body mass index and obesity risk in the Framingham Heart StudyAssociationN=2,280Corella D. et al.(2007)· Journal of Molecular Medicine
In 1,073 men and 1,207 women from the Framingham Offspring Study, the APOA5 -1131T>C polymorphism showed a significant gene-diet interaction with total fat intake in determining BMI and obesity risk (OR=0.61, 95% CI=0.39-0.98 for obesity in high-fat consumers). Carriers of the -1131C minor allele showed no increase in BMI with higher fat intake, while TT homozygotes showed increased BMI with increasing fat intake. The 56C>G (S19W) polymorphism did not show this interaction.
About APOA5
The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
View all APOA5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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