Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperalphalipoproteinemia 2
APOC3

References:

1.

Ferns GA et al. (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.

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2.

Karathanasis SK et al. (1987) DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.

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3.

Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes.

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4.

None (1985) Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes.

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5.

Wang QF et al. (2004) Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons.

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6.

Pollin TI et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

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7.

von Eckardstein A et al. (1991) Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.

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8.

Coste H et al. (2002) Orphan nuclear hormone receptor Rev-erbalpha regulates the human apolipoprotein CIII promoter.

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9.

Talmud PJ et al. (2002) Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.

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10.

Waterworth DM et al. (2003) Variants in the APOC3 promoter insulin responsive element modulate insulin secretion and lipids in middle-aged men.

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11.

Altomonte J et al. (2004) Foxo1 mediates insulin action on apoC-III and triglyceride metabolism.

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12.

Henderson HE et al. (1987) Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes.

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13.

Oettgen P et al. (1986) PvuII polymorphic site upstream to the human ApoCIII gene.

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14.

Maeda H et al. (1987) Molecular cloning of a human apoC-III variant: Thr 74----Ala 74 mutation prevents O-glycosylation.

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15.

Maeda H et al. (1981) Unusual familial lipoprotein C-III associated with apolipoprotein C-III-O preponderance.

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16.

Dammerman M et al. (1993) An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3' untranslated region polymorphisms.

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17.

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.

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18.

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.

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19.

Song Y et al. (2015) Associations of the APOC3 rs5128 polymorphism with plasma APOC3 and lipid levels: a meta-analysis.

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20.

Li Y et al. (2016) Apolipoprotein C3 gene variants and the risk of coronary heart disease: A meta-analysis.

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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: April 29, 2019