| Title: | An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank |
| Journal: | Nature Neuroscience |
| Published: | 19 Apr 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/33875891/ |
| DOI: | https://doi.org/10.1038/s41593-021-00826-4 |
| URL: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7610742 |
| Citations: | 271 (168 in last 2 years) as of 8 Aug 2024 |
Publication 4048
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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.</p>
10 Keywords
- Biological Specimen Banks
- Brain
- Genetic Predisposition to Disease
- Genome, Human
- Genome-Wide Association Study
- Humans
- Magnetic Resonance Imaging
- Phenotype
- Polymorphism, Single Nucleotide
- United Kingdom
7 Authors
- Stephen M. Smith
- Gwenaëlle Douaud
- Winfield Chen
- Taylor Hanayik
- Fidel Alfaro-Almagro
- Kevin Sharp
- Lloyd T. Elliott
Enabling scientific discoveries that improve human health