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:
Related Diseases:
References:
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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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Talmud PJ et al. (2002) Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.
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Evans D et al. (2005) Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia.
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Kao JT et al. (2003) A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia.
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Pennacchio LA et al. (2001) An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing.
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Pennacchio LA et al. (2002) Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels.
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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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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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Olivier M et al. (2004) Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.
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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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Update: Aug. 14, 2020