Maria J. Knol

1 month ago | digitalcommons.library.tmc.edu | Yunju Yang |Maria J. Knol |Ruiqi Wang |Aniket Mishra

AbstractCerebral white matter hyperintensities on MRI are markers of cerebral small vessel disease, a major risk factor for dementia and stroke. Despite the successful identification of multiple genetic variants associated with this highly heritable condition, its genetic architecture remains incompletely understood. More specifically, the role of DNA methylation has received little attention.

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.

May 3, 2024 | cell.com | Bybjerg-Grauholm J |Byrne E.M |S List |Maria J. Knol

Highlights•Knol, Poot, et al. identify 67 genetic loci associated with human head size•Genes harboring or near head size genetic variants enrich for macrocephaly genes•Head size genetic variants preferentially locate to cancer genes and pathways•Further research is needed on the potential link between head size and cancer riskSummaryThe size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped.

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.