Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Apolipoprotein A4

This APOA4 gene encodes apolipoprotein A4, a component of HDL particles and chylomicrons. Genetic variations are associated with familial combined hypercholestarolemia.

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:

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

Related Diseases:

Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

1.

Karathanasis SK et al. (1986) Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).

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2.

von Eckardstein A et. al. (1992) Nonsynonymous polymorphic sites in the apolipoprotein (apo) A-IV gene are associated with changes in the concentration of apo B- and apo A-I-containing lipoproteins in a normal population.

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3.

Kamboh MI et. al. (1992) Molecular basis of a unique African variant (A-IV 5) of human apolipoprotein A-IV and its significance in lipid metabolism.

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4.

Lohse P et. al. (1990) Human plasma apolipoproteins A-IV-0 and A-IV-3. Molecular basis for two rare variants of apolipoprotein A-IV-1.

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5.

Menzel HJ et. al. (1990) Frequency and effect of human apolipoprotein A-IV polymorphism on lipid and lipoprotein levels in an Icelandic population.

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6.

Lohse P et. al. (1990) Genetic polymorphism of human plasma apolipoprotein A-IV is due to nucleotide substitutions in the apolipoprotein A-IV gene.

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7.

Rogne S et. al. (1986) Confirmation of the close linkage between the loci for human apolipoproteins AI and AIV by the use of a cloned cDNA probe and two restriction site polymorphisms.

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8.

Elshourbagy NA et. al. (1987) Structure and expression of the human apolipoprotein A-IV gene.

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9.

Elshourbagy NA et. al. (1986) The nucleotide and derived amino acid sequence of human apolipoprotein A-IV mRNA and the close linkage of its gene to the genes of apolipoproteins A-I and C-III.

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10.

Menzel HJ et. al. (1988) Human apolipoprotein A-IV polymorphism: frequency and effect on lipid and lipoprotein levels.

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11.

Kamboh MI et. al. (1987) Genetic studies of human apolipoproteins. I. Polymorphism of apolipoprotein A-IV.

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12.

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

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13.

Tracy RP et. al. (1982) Two-dimensional gel electrophoresis of serum specimens from a normal population.

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14.

Schamaun O et. al. (1984) The two apolipoprotein loci apo A-I and apo A-IV are closely linked in man.

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15.

Green PH et. al. (1980) Human apolipoprotein A-IV. Intestinal origin and distribution in plasma.

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16.

Menzel HJ et. al. (1982) Apolipoprotein A-IV polymorphism in man.

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17.

Duverger N et. al. (1996) Protection against atherogenesis in mice mediated by human apolipoprotein A-IV.

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18.

Cohen RD et. al. (1997) Reduced aortic lesions and elevated high density lipoprotein levels in transgenic mice overexpressing mouse apolipoprotein A-IV.

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Update: Sept. 26, 2018