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Genetic variation in apolipoprotein A-V in hypertriglyceridemia
Shehan D Perera1, Robert A Hegele
1Departments of Biochemistry and Medicine, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond Street North, London, Ontario, Canada.
Current Opinion in Lipidology
|December 20, 2023
Summary
Rare variants in the APOA5 gene can cause familial chylomicronemia syndrome. Heterozygous APOA5 variants lead to variable triglyceride levels, highlighting their complex role in hypertriglyceridemia.
Area of Science:
- Genetics
- Biochemistry
- Cardiovascular Disease
Background:
- Familial chylomicronemia syndrome is caused by biallelic rare APOA5 loss-of-function (LOF) variants.
- Heterozygosity for APOA5 LOF variants results in a wide spectrum of triglyceride phenotypes, from normal to severe hypertriglyceridemia.
- The clinical significance of many rare APOA5 missense variants remains uncertain due to limited functional data.
Conclusions:
- APOAS variants play a significant role in hypertriglyceridemia, with varying clinical impact.
- Further functional studies are needed to elucidate the pathogenicity of APOA5 missense variants.
- Distinguishing between causative mutations and risk alleles is crucial for accurate diagnosis and management.
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