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Another explanation for apparent epistasis

Author

Listed:
  • Andrew R. Wood

    (Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, Exeter EX2 5DW, UK)

  • Marcus A. Tuke

    (Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, Exeter EX2 5DW, UK)

  • Mike A. Nalls

    (Laboratory of Neurogenetics, National Institute of Aging)

  • Dena G. Hernandez

    (Laboratory of Neurogenetics, National Institute of Aging
    Institute of Neurology, UCL, London WC1N IPJ, UK)

  • Stefania Bandinelli

    (Tuscany Regional Health Agency, Florence, Italy, University of Florence
    Geriatric Unit, Azienda Sanitaria di Firenze)

  • Andrew B. Singleton

    (Laboratory of Neurogenetics, National Institute of Aging)

  • David Melzer

    (Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, Exeter EX2 5DW, UK)

  • Luigi Ferrucci

    (Longitudinal Studies Section, Clinical Research Branch, Gerontology Research Center, National Institute on Aging)

  • Timothy M. Frayling

    (Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, Exeter EX2 5DW, UK)

  • Michael N. Weedon

    (Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, Exeter EX2 5DW, UK)

Abstract

Arising from G. Hemani et al. Nature 508, 249–253 (2014); doi:10.1038/nature1300510.1038/nature13005 Epistasis occurs when the effect of a genetic variant on a trait is dependent on genotypes of other variants elsewhere in the genome. Hemani et al. recently reported the detection and replication of many instances of epistasis between pairs of variants influencing gene expression levels in humans1. Using whole-genome sequencing data from 450 individuals we strongly replicated many of the reported interactions but, in each case, a single third variant captured by our sequencing data could explain all of the apparent epistasis. Our results provide an alternative explanation for the apparent epistasis observed for gene expression in humans. There is a Reply to this Brief Communication Arising by Hemani, G. et al. Nature 514, http://dx.doi.org/10.1038/nature13692 (2014).

Suggested Citation

  • Andrew R. Wood & Marcus A. Tuke & Mike A. Nalls & Dena G. Hernandez & Stefania Bandinelli & Andrew B. Singleton & David Melzer & Luigi Ferrucci & Timothy M. Frayling & Michael N. Weedon, 2014. "Another explanation for apparent epistasis," Nature, Nature, vol. 514(7520), pages 3-5, October.
    • Handle: RePEc:nat:nature:v:514:y:2014:i:7520:d:10.1038_nature13691
    DOI: 10.1038/nature13691
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    Cited by:

    1. Boyang Fu & Ali Pazokitoroudi & Mukund Sudarshan & Zhengtong Liu & Lakshminarayanan Subramanian & Sriram Sankararaman, 2023. "Fast kernel-based association testing of non-linear genetic effects for biobank-scale data," Nature Communications, Nature, vol. 14(1), pages 1-8, December.
    2. Mattias Frånberg & Rona J Strawbridge & Anders Hamsten & PROCARDIS consortium & Ulf de Faire & Jens Lagergren & Bengt Sennblad, 2017. "Fast and general tests of genetic interaction for genome-wide association studies," PLOS Computational Biology, Public Library of Science, vol. 13(6), pages 1-29, June.

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