Apolipoprotein C3
Das APOC3-Gen kodiert eine Apolipoprotein, welches die Funktion der Lipoproteinlipasen zu hemmen scheint. Mutationen führen zum autosomal dominanten Zustand der Hyperalphalipoproteinämie 2, der durch ein erniedrigtes Herz-Kreislaufrisiko gekennzeichnet zu sein scheint.
Genstruktur
Das APOA1-APOC3-APOA4 Gen-Cluster weist einen hohen Grad an linkage disequilibrium auf. So können Assoziationen von bestimmten Polymorphismen eines Gens durchaus auch auf Assoziationen mit Polymorphismen in einem der anderen Gene zusammenhängen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
Li Y et al. (2016) Apolipoprotein C3 gene variants and the risk of coronary heart disease: A meta-analysis.
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3. |
Song Y et al. (2015) Associations of the APOC3 rs5128 polymorphism with plasma APOC3 and lipid levels: a meta-analysis.
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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.
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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.
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6. |
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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7. |
Maeda H et al. (1981) Unusual familial lipoprotein C-III associated with apolipoprotein C-III-O preponderance.
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8. |
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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9. |
Oettgen P et al. (1986) PvuII polymorphic site upstream to the human ApoCIII gene.
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10. |
Henderson HE et al. (1987) Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes.
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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. |
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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13. |
Talmud PJ et al. (2002) Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.
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14. |
Coste H et al. (2002) Orphan nuclear hormone receptor Rev-erbalpha regulates the human apolipoprotein CIII promoter.
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15. |
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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16. |
Pollin TI et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
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17. |
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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18. |
None (1985) Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes.
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19. |
Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes.
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20. |
Ferns GA et al. (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.
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21. |
Orphanet article
Orphanet ID 160053
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22. |
NCBI article
NCBI 345
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23. |
OMIM.ORG article
Omim 107720
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Update: 14. August 2020