Tavia E. Evans

May 13, 2024 | digitalcommons.library.tmc.edu | Maria J. Knol |Raymond Poot |Tavia E. Evans |Claudia L. Satizabal

AbstractThe size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways.

Apr 17, 2023 | nature.com | Marie-Gabrielle Duperron |Maria J. Knol |Quentin Le Grand |Tavia E. Evans |Ami Tsuchida |Gennady V Roshchupkin | +35 more

AbstractPerivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.6 yr, 96.9% European ancestry) revealed 24 genome-wide significant PVS risk loci, mainly in the white matter.