Apolipoprotein C3
APOC3 encodes an apolipoprotein that inhibits lipoproteinlipases. Mutations cause the autosomal dominat lipid disorder hyperalphalipoproteinemia 2 characterized possibly by low cardiovascular risk.
Gene Structure
APOA1-APOC3-APOA4 gene cluster shows a remarkable linkage disequilibrium, so if we find a disease association of a polymorphism in one of these genes it may be related to a polymorphism in an other of these genes as well.
Genetests:
Related Diseases:
References:
1. |
Karathanasis SK et al. (1987) DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.
|
2. |
Li Y et al. (2016) Apolipoprotein C3 gene variants and the risk of coronary heart disease: A meta-analysis.
|
3. |
Song Y et al. (2015) Associations of the APOC3 rs5128 polymorphism with plasma APOC3 and lipid levels: a meta-analysis.
|
4. |
Vu-Dac N et al. (1998) Retinoids increase human apo C-III expression at the transcriptional level via the retinoid X receptor. Contribution to the hypertriglyceridemic action of retinoids.
|
5. |
Li WW et al. (1995) Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia.
|
6. |
Dammerman M et al. (1993) An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3' untranslated region polymorphisms.
|
7. |
Maeda H et al. (1981) Unusual familial lipoprotein C-III associated with apolipoprotein C-III-O preponderance.
|
8. |
Maeda H et al. (1987) Molecular cloning of a human apoC-III variant: Thr 74----Ala 74 mutation prevents O-glycosylation.
|
9. |
Oettgen P et al. (1986) PvuII polymorphic site upstream to the human ApoCIII gene.
|
10. |
Henderson HE et al. (1987) Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes.
|
11. |
Altomonte J et al. (2004) Foxo1 mediates insulin action on apoC-III and triglyceride metabolism.
|
12. |
Waterworth DM et al. (2003) Variants in the APOC3 promoter insulin responsive element modulate insulin secretion and lipids in middle-aged men.
|
13. |
Talmud PJ et al. (2002) Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.
|
14. |
Coste H et al. (2002) Orphan nuclear hormone receptor Rev-erbalpha regulates the human apolipoprotein CIII promoter.
|
15. |
von Eckardstein A et al. (1991) Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.
|
16. |
Pollin TI et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
|
17. |
Wang QF et al. (2004) Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons.
|
18. |
None (1985) Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes.
|
19. |
Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes.
|
20. |
Ferns GA et al. (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.
|
21. |
Orphanet article
Orphanet ID 160053
|
22. |
NCBI article
NCBI 345
|
23. |
OMIM.ORG article
Omim 107720
|
24. |
Wikipedia article
Wikipedia EN (Apolipoprotein_C3)
|
Update: Aug. 14, 2020