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The effect of HapMap on cardiovascular research and clinical practice

Nature Clinical Practice Cardiovascular Medicine volume 4, pages 136–142 (2007)Cite this article

Abstract

The Haplotype Genetic Map (HapMap) is an invaluable resource to the cardiovascular researcher, enabling a decrease in cost and an increase in the efficiency and speed of discoveries in the laboratory. As cardiologists, we need to understand the vocabulary of genomics because the translation of scientific findings using HapMap could provide insight for improved care and therapeutic guidance of our patients. Genomics is the evaluation of genes as a dynamic system, in which genes interact to influence biologic pathways, networks and physiology. The HapMap promises to increase the efficiency of genomics in identifying cardiovascular-disease-related genes that could become vital for choosing relevant tests and providing preventative and curative therapies. In this Review, the HapMap will be described, to provide insight into the relevance of this work to cardiovascular practice, to clinical research in cardiovascular disease and to future discoveries in diagnostic and therapeutic modalities.

Key Points

  • The recently published Haplotype Genetic Map (HapMap) has the potential to increase the efficiency and speed, yet decrease the cost, of genetic discoveries

  • The HapMap is a catalogue of common haplotypes (i.e. a group of genetic variants, or genotypes closely linked on one chromosome and inherited as a unit), which is being used to find genes associated with human disease

  • Only by elucidating the complex interactions of multiple genetic variants, which are weak individually but that together confer a deleterious phenotype, will we begin to understand and effectively treat or prevent processes such as in-stent restenosis and subacute thrombosis

  • In the future, patients' genomes could be sequenced and incorporated into their medical record; an individual's genome sequence will then be vital in choosing tests as well as providing preventative and curative therapies

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Figure 1: SNPs and haplotype blocks

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Author information

Authors and Affiliations

  1. KA Skelding is Associate in Interventional Cardiology and Director of Cardiovascular Genomics and Cardiovascular Research at the Geisinger Center for Health Research at Geisinger Medical Center, Danville, PA, USA.,

    Kimberly A Skelding

  2. Department of Internal Medicine, Division of Cardiovascular Diseases, GS Gerhard is Medical Director of the Molecular Diagnostics Laboratory, Geisinger Clinic, RD Simari is Professor of Medicine at the Mayo Medical School, Rochester, MN, and DR Holmes Jr is Professor of Medicine at Mayo Clinic College of Medicine and Consultant, Mayo Clinic and Mayo Foundation.,

    Glenn S Gerhard, Robert D Simari & David R Holmes Jr

Authors
  1. Kimberly A Skelding
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  2. Glenn S Gerhard
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  4. David R Holmes Jr
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Corresponding author

Correspondence to Kimberly A Skelding.

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Skelding, K., Gerhard, G., Simari, R. et al. The effect of HapMap on cardiovascular research and clinical practice. Nat Rev Cardiol 4, 136–142 (2007). https://doi.org/10.1038/ncpcardio0830

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