rs4520

This is a synonymous variant in the APOC3 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

3-hydroxybutyrate measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.04
p 8.0e-16
N 113,594
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.04
p 1.0e-12
N 87,151
Large GWAS
European

triacylglycerol 54:5 measurement

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 0.13
p 2.0e-8
N 4,642
Large GWAS
European

level of phosphatidylinositol

Tabassum R et al. “Genetic architecture of human plasma lipidome and its link to cardiovascular disease.” Nature Communications 10(1):4329 (2019)
Allele C
OR 0.18
p 3.0e-8
N 2,045
Large GWAS
European
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ClinVar annotation

Benign★★★☆
7 submitters2 publications

Apolipoprotein c-III deficiency; Cardiovascular phenotype; not specified

View on ClinVar →

About APOC3

This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]

View all APOC3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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