RT Journal Article
SR Electronic
T1 Imputation of Behavioral Candidate Gene Repeat Polymorphisms in 486,551 Publicly-Available UK Biobank Individuals
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 358267
DO 10.1101/358267
A1 Richard Border
A1 Andrew Smolen
A1 Robin P. Corley
A1 Michael C. Stallings
A1 Sandra A. Brown
A1 Rand D. Conger
A1 Jaime Derringer
A1 M. Brent Donnellan
A1 Brett C. Haberstick
A1 John K. Hewitt
A1 Christian Hopfer
A1 Ken Krauter
A1 Matthew B. McQueen
A1 Tamara L. Wall
A1 Matthew C. Keller
A1 Luke M. Evans
YR 2018
UL http://biorxiv.org/content/early/2018/06/29/358267.abstract
AB Some of the most widely studied polymorphisms in psychiatric genetics include variable number tandem repeat polymorphisms (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 polymorphisms and one modifying SNP, depending on the reference and target dataset. We describe the imputation procedures of these candidate polymorphisms in 486,551 UK Biobank individuals, and have made the imputed polymorphism data available to UK Biobank researchers. This resource, provided to the community, will allow the most rigorous tests to-date of the roles of these polymorphisms in behavioral and psychiatric phenotypes.