Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
This APOA4 gene encodes apolipoprotein A4, a component of HDL particles and chylomicrons. Genetic variations are associated with familial combined hypercholestarolemia.
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.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
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ANGPTL8
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APOA1
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APOA4
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APOA5
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APOC3
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CETP
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GALNT2
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LCAT
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LIPC
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LIPG
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LPL
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RXRG
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USF1
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| 1. |
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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| 2. |
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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| 3. |
Duverger N et al. (1996) Protection against atherogenesis in mice mediated by human apolipoprotein A-IV.
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| 4. |
Menzel HJ et al. (1982) Apolipoprotein A-IV polymorphism in man.
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| 5. |
Green PH et al. (1980) Human apolipoprotein A-IV. Intestinal origin and distribution in plasma.
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| 6. |
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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| 7. |
Tracy RP et al. (1982) Two-dimensional gel electrophoresis of serum specimens from a normal population.
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| 8. |
None (1985) Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes.
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| 9. |
Kamboh MI et al. (1987) Genetic studies of human apolipoproteins. I. Polymorphism of apolipoprotein A-IV.
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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. |
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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| 12. |
Elshourbagy NA et al. (1987) Structure and expression of the human apolipoprotein A-IV gene.
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| 13. |
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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| 14. |
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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| 15. |
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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| 16. |
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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| 17. |
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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| 18. |
Karathanasis SK et al. (1986) Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).
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| 19. |
NCBI article NCBI 337
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| 20. |
OMIM.ORG article Omim 107690
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| 21. |
Wikipedia article Wikipedia EN (APOA4)
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