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Eur J Hum Genet. 2019 Jun;27(6):963-969. doi: 10.1038/s41431-019-0349-x. Epub 2019 Feb 5.

Imputation of behavioral candidate gene repeat variants in 486,551 publicly-available UK Biobank individuals.

Author information

1
Institute for Behavioral Genetics, University of Colorado Boulder, Boulder, CO, USA.
2
Department of Psychology and Neuroscience, University of Colorado Boulder, Boulder, CO, USA.
3
Department of Applied Mathematics, University of Colorado Boulder, Boulder, CO, USA.
4
Department of Psychiatry, University of California San Diego, San Diego, CA, USA.
5
Department of Psychology, University of California San Diego, San Diego, CA, USA.
6
Department of Human Ecology, University of California Davis, Davis, CA, USA.
7
Department of Psychology, University of Illinois at Urbana-Champaign, Champaign, IL, USA.
8
Department of Psychology, Michigan State University, East Lansing, MI, USA.
9
Department of Psychiatry, University of Colorado Anschutz Medical Campus, Aurora, IL, USA.
10
Department of Molecular and Cellular Biology, University of Colorado Boulder, Boulder, CO, USA.
11
Department of Integrative Physiology, University of Colorado Boulder, Boulder, CO, USA.
12
Institute for Behavioral Genetics, University of Colorado Boulder, Boulder, CO, USA. luke.m.evans@colorado.edu.
13
Department of Ecology and Evolutionary Biology, University of Colorado Boulder, Boulder, CO, USA. luke.m.evans@colorado.edu.

Abstract

Some of the most widely studied variants in psychiatric genetics include variable number tandem repeat variants (VNTRs) in SLC6A3, DRD4, SLC6A4, and MAOA. While initial findings suggested large effects, their importance with respect to psychiatric phenotypes is the subject of much debate with broadly conflicting results. Despite broad interest, these loci remain absent from the largest available samples, such as the UK Biobank, limiting researchers' ability to test these contentious hypotheses rigorously in large samples. Here, using two independent reference datasets, we report out-of-sample imputation accuracy estimates of >0.96 for all four VNTR variants and one modifying SNP, depending on the reference and target dataset. We describe the imputation procedures of these candidate variants in 486,551 UK Biobank individuals, and have made the imputed variant data available to UK Biobank researchers. This resource, provided to the scientific community, will allow the most rigorous tests to-date of the roles of these variants in behavioral and psychiatric phenotypes.

PMID:
30723318
DOI:
10.1038/s41431-019-0349-x

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