Phenotypic and Genetic Insights into Brain Perfusion Using Arterial Spin Labeling in UK Biobank

Motivation: Identifying non-invasive brain health markers is essential for tracking neurological risk and therapeutic responses. Arterial Spin Labeling (ASL) shows promise in detecting perfusion changes linked to neurological and psychiatric conditions. Goal(s): To examine ASL-derived perfusion markers within the large cohort, UK Biobank, focusing on associations with lifestyle, cardiovascular, and genetic factors. Approach: ASL data from 7,157 participants were analyzed for phenotypic and genetic correlations with cerebral blood flow and arterial transit time, using voxelwise, mediation, and genome-wide association studies (GWAS). Results: Significant associations were identidied with 155 phenotypes, including alcohol use and hypertension. GWAS identified specific gene variants uniquely relatied to ASL. Impact: This study highlights ASL-derived measures as valuable indicators of brain health, linking them to lifestyle, cardiovascular, and genetic factors. ASL's potential for population-level monitoring offers insights for early detection and intervention strategies in neurological health, improving patient outcomes.