Title: Brain imaging genetics with ~40,000 subjects and ~3,000 phenotypes
Authors: Lloyd Elliott - Simon Fraser University (Canada) [presenting]
Abstract: UK Biobank is a major prospective epidemiological study that is carrying out detailed multimodal brain imaging on 100,000 participants, and includes genetics and ongoing health outcomes. We present a new open resource of GWAS summary statistics, resulting from a greatly expanded set of genetic associations with brain phenotypes, using the 2020 UK Biobank imaging data release of approximately 40,000 subjects, 3,000 phenotypes, and 10 million variants with MAF $\ge 1\%$. We include associations on the X chromosome, and several new classes of image-derived phenotypes (primarily, more fine-grained subcortical volumes, and cortical grey-white intensity contrast). We develop a method to identify clusters of associations across phenotypes (Peaks) and we find 692 replicating clusters of associations, including 12 on the X chromosome. Our novel associations implicate pathways involved in the rare X-linked syndrome STAR (syndactyly, telecanthus and anogenital and renal malformations), Alzheimer's disease and mitochondrial disorders.