Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Apolipoprotein A5

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.

Genetests:

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

Related Diseases:

Hypertriglyceridemia
APOA5
APOE
Combined lipase deficiency
LMF1
GPIHBP1
LIPC
LIPE
LPL
Plasma triglyceride level quantitative trait locus
ANGPTL4
Transient infantile hypertriglyceridemia
GPD1
Chylomicronemia
APOA5
APOC2
APOE
GPIHBP1
LPL
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

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 [^]
13.

OMIM.ORG article

Omim 606368 [^]
14.

Wikipedia article

Wikipedia EN (APOA5) [^]
Update: April 29, 2019