Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The APOA5 gene encodes a lipoprotein component of HDL particles. Polymorphisms are associated with hypertriglyceridemia, low HDL levels, and coronary artery disease. Loss-of-function mutations may cause more severe hypertriglyceridemia and even chylomicronemia especially if homozygous.
| 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 |
Hypertriglyceridemia
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APOA5
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APOE
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Combined lipase deficiency
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LMF1
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GPIHBP1
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LIPC
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LIPE
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LPL
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Plasma triglyceride level quantitative trait locus
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ANGPTL4
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Transient infantile hypertriglyceridemia
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GPD1
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Chylomicronemia
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ABCA1
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ABCG5
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APOA5
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APOC2
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APOE
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Chylomicron retention disease
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SAR1B
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GPIHBP1
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LCAT
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LIPA
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LIPC
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LMF1
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LPL
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SAR1B
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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. |
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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| 2. |
Talmud PJ et al. (2002) Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.
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| 3. |
Evans D et al. (2005) Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia.
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| 4. |
Kao JT et al. (2003) A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia.
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| 5. |
Pennacchio LA et al. (2001) An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing.
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| 6. |
Pennacchio LA et al. (2002) Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels.
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| 7. |
Endo K et al. (2002) Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren.
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| 8. |
Martin S et al. (2003) Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges.
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| 9. |
Olivier M et al. (2004) Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.
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| 10. |
Marçais C et al. (2005) Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.
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| 11. |
Dussaillant C et al. (2012) APOA5 Q97x Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.
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| 12. |
NCBI article NCBI 116519
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| 13. |
OMIM.ORG article Omim 606368
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| 14. |
Wikipedia article Wikipedia EN (APOA5)
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