Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hyperalphalipoproteinämie 2
APOC3

Referenzen:

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.

Karathanasis SK et al. (1985) Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes.

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5.

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

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6.

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

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7.

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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8.

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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9.

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

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10.

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

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11.

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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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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