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Hypertriglyceridemia: phenomics and genomics

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Abstract

Hypertriglyceridemia is a common complex metabolic trait that is associated with increased atherosclerosis risk, presence of the metabolic syndrome and, with extreme elevation, increased risk of pancreatitis. Hierarchical cluster analysis using clinical and biochemical features of the Frederickson hyperlipoproteinemia types can generate hypotheses for molecular genetic studies. High throughput resequencing of individuals at the extremes of plasma triglyceride concentration has shown that both rare genetic variants with large effects and common genetic variants with moderate effects explain a relatively large proportion of variation. Very recent progress using high-density sets of genome-wide markers have identified additional genetic determinants of plasma triglyceride concentrations, albeit within largely normolipidemic subjects and with small effect sizes. Phenomic evaluation of patients with hypertriglyceridemia might help to clarify genotype–phenotype correlations and responses to interventions.

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Acknowledgments

RAH is supported by the Jacob J. Wolfe Distinguished Medical Research Chair, the Edith Schulich Vinet Canada Research Chair (Tier I) in Human Genetics, a Career Investigator award from the Heart and Stroke Foundation of Ontario (CI-5710), and operating grants from the Canadian Institutes for Health Research (FRN-13430 and MOP-79533), the Heart and Stroke Foundation of Ontario (PRG-5967, NA-6059 and T-6018), the Ontario Research Fund and by Genome Canada through the Ontario Genomics Institute.

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Authors and Affiliations

  1. Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, N6A 5K8, Canada

    Robert A. Hegele & Rebecca L. Pollex

  2. Vascular Biology Research Group, Robarts Research Institute, 406-100 Perth Drive, London, ON, N6A 5K8, Canada

    Robert A. Hegele & Rebecca L. Pollex

  3. Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, ON, N6A 5K8, Canada

    Robert A. Hegele

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  1. Robert A. Hegele
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Correspondence to Robert A. Hegele.

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Hegele, R.A., Pollex, R.L. Hypertriglyceridemia: phenomics and genomics. Mol Cell Biochem 326, 35–43 (2009). https://doi.org/10.1007/s11010-008-0005-1

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  • DOI: https://doi.org/10.1007/s11010-008-0005-1

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