Another explanation for apparent epistasis

Andrew R. Wood, Marcus A. Tuke, Mike A. Nalls, Dena G. Hernandez, Stefania Bandinelli, Andrew B. Singleton, David Melzer, Luigi Ferrucci, Timothy M. Frayling () and Michael N. Weedon ()
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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
Stefania Bandinelli: Tuscany Regional Health Agency, Florence, Italy, University of Florence
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

Nature, 2014, vol. 514, issue 7520, E3-E5

Abstract: 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).

Date: 2014
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DOI: 10.1038/nature13691

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