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A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by
Robert A Hegele1, Matthew R Ban, Neil Hsueh
1Vascular Biology Research Group, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada. hegele@robarts.ca
Human Molecular Genetics
|August 7, 2009
Summary
Genetic variants influencing triglyceride levels in the general population also contribute to rare hyperlipoproteinemia (HLP) types. These findings reveal shared genetic underpinnings for distinct HLP phenotypes.
Area of Science:
- Genetics
- Metabolic Disorders
- Lipid Metabolism
Background:
- Genome-wide association studies (GWAS) identified single nucleotide polymorphisms (SNPs) linked to triglyceride (TG) variation in normolipidemic individuals.
- The role of these SNPs in rare hyperlipoproteinemia (HLP) phenotypes remained largely uncharacterized.
Purpose of the Study:
- To investigate whether TG-associated SNPs from GWAS in normolipidemic subjects are also determinants of HLP phenotypes.
- To evaluate the genetic overlap between different HLP types and normolipidemic TG variation.
Main Methods:
- Genotyping of 28 TG-associated SNPs from GWAS in 386 HLP patients (Fredrickson types 2A, 2B, 3, 4, 5) and 242 controls.
- Statistical association analysis to identify SNPs linked to specific HLP types.
Main Results:
- Several SNPs, including APOA5, TRIB1, TBL2, GCKR, GALNT2, and ANGPTL3 variants, were significantly associated with HLP types 2B, 3, 4, and 5.
- HLP types 2B, 3, 4, and 5 are polygenic traits sharing common genetic determinants.
Conclusions:
- Genetic determinants of TG variation in the general population significantly contribute to susceptibility to rare HLP phenotypes.
- Historically distinct HLP types (2B, 3, 4, 5) are complex traits with shared genetic underpinnings identified through GWAS.
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