An Expanded Set of Genome-wide Association Studies of Brain Imaging Phenotypes in UK Biobank

Overview

Journal Nat Neurosci

Date 2021 Apr 20

PMID 33875891

Citations 178

Authors

Stephen M Smith

Gwenaelle Douaud

Winfield Chen

Taylor Hanayik

Fidel Alfaro-Almagro

Kevin Sharp

Lloyd T Elliott

Affiliations

Soon will be listed here.

Abstract

UK Biobank is a major prospective epidemiological study, including multimodal brain imaging, genetics and ongoing health outcomes. Previously, we published genome-wide associations of 3,144 brain imaging-derived phenotypes, with a discovery sample of 8,428 individuals. Here we present a new open resource of genome-wide association study summary statistics, using the 2020 data release, almost tripling the discovery sample size. We now include the X chromosome and new classes of imaging-derived phenotypes (subcortical volumes and tissue contrast). Previously, we found 148 replicated clusters of associations between genetic variants and imaging phenotypes; in this study, we found 692, including 12 on the X chromosome. We describe some of the newly found associations, focusing on the X chromosome and autosomal associations involving the new classes of imaging-derived phenotypes. Our novel associations implicate, for example, pathways involved in the rare X-linked STAR (syndactyly, telecanthus and anogenital and renal malformations) syndrome, Alzheimer's disease and mitochondrial disorders.

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