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Mapping Metabolomic Quantitative Trait Loci (mQTL): A Link Between Metabolome-Wide Association Studies and Systems Biology

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Genetics Meets Metabolomics

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Abstract

The comprehensive understanding of metabolism in health and disease has reached a new level with the introduction of Metabolome-Wide Association Studies. Quantitative Trait Locus mapping of metabolic phenotypes (mQTL) is a powerful approach to unravel the genetic component associated with metabolic profiles, and typically identifies genes associated with metabolic markers of disease. In this chapter we describe the various stages of the mQTL mapping strategy, which typically involves a genetically heterogeneous cohort, modern genotyping platforms, hypothesis-free metabolic profiling using high-throughput nuclear magnetic resonance (NMR) spectroscopy or mass spectrometry (MS), generating up to 20,000 metabolic traits per sample and the statistical tools required to map these traits onto the genome of this experimental population. Finally we describe network and systems biology strategies enhancing the biological interpretation of haplotype – metabotype association networks derived from mQTL studies for a better understanding of pathophysiological mechanisms.

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Acknowledgements

The authors acknowledge support from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement N° HEALTH-F4-2010-241504 (EURATRANS), the ANR (mQTL ANR-08-GENO-030-02) and the Fondation pour la Recherche Médicale. Marc-Emmanuel Dumas holds a Young Investigator Award from Agence Nationale de la Recherche (ANR-07-JCJC-0042-01) Dominique Gauguier holds a Wellcome Trust Senior Fellowship in basic biomedical science (057733).

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Authors and Affiliations

  1. Surgery and Cancer, Imperial College London, Sir Alexander Fleming Building Exhibition Road, London, SW7 2AZ, UK

    Marc-Emmanuel Dumas Ph.D., M.Eng., M.Sc., B.Eng., B.Sc.

  2. INSERM U872, Cordeliers Research Centre, 15 Rue de l’Ecole de Médecine, Paris, 75006, France

    Dominique Gauguier Ph.D.

Authors
  1. Marc-Emmanuel Dumas Ph.D., M.Eng., M.Sc., B.Eng., B.Sc.
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  2. Dominique Gauguier Ph.D.
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Corresponding author

Correspondence to Marc-Emmanuel Dumas Ph.D., M.Eng., M.Sc., B.Eng., B.Sc. .

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Editors and Affiliations

  1. Qatar Foundation-Education City, Weill Cornell Medical College in Qatar, Education City – Qatar Foundation, Doha, 24144, Qatar

    Karsten Suhre

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Dumas, ME., Gauguier, D. (2012). Mapping Metabolomic Quantitative Trait Loci (mQTL): A Link Between Metabolome-Wide Association Studies and Systems Biology. In: Suhre, K. (eds) Genetics Meets Metabolomics. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1689-0_14

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