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Genetic bases of hypertriglyceridemic phenotypes
Christopher T Johansen1, Robert A Hegele
1Departments of Biochemistry and Medicine, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
Current Opinion in Lipidology
|April 27, 2011
Summary
Genetic factors significantly contribute to hypertriglyceridemia (HTG) risk. Both rare mutations and common variants in genes like APOA5 play a role, explaining over 20% of HTG susceptibility.
Area of Science:
- Genetics
- Metabolic Disorders
- Lipid Metabolism
Background:
- Hypertriglyceridemia (HTG) is a prevalent clinical diagnosis.
- While secondary factors influence HTG, a substantial genetic predisposition exists.
Purpose of the Study:
- To review the genetic underpinnings of hypertriglyceridemia.
- To explore the contribution of both rare and common genetic variants to HTG susceptibility.
Main Methods:
- Review of genetic studies on Mendelian and complex forms of HTG.
- Analysis of loss-of-function mutations in genes like LPL, APOC2, APOA5, LMF1, and GPIHBP1.
- Examination of single nucleotide polymorphisms in genes such as APOA5, GCKR, LPL, and APOB.
Main Results:
- Severe HTG often results from rare autosomal recessive mutations.
- Common complex HTG is influenced by cumulative small-effect variants.
- Over 20% of HTG susceptibility is now explained by common and rare variants.
- Different Fredrickson HTG phenotypes share a common genetic basis.
Conclusions:
- Genetic variants account for a significant proportion of HTG diagnoses compared to other complex traits.
- Risk allele scoring can differentiate individuals with HTG from those with normal lipid levels.
- Future research should focus on identifying the remaining genetic components and exploring genetic profiling for personalized diagnosis and treatment.
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