Identifying the joint signature of brain atrophy and gene variant scores in Alzheimer's Disease

Federica Cruciani, Antonino Aparo, Lorenza Brusini, Carlo Combi, Silvia Francesca Storti, Rosalba Giugno, Gloria Menegaz, Ilaria Boscolo Galazzo

Abstract: Highlights•PLS reveals genotype–phenotype interactions in AD continuum.•Using SKAT filtering, gene-based variant scores were derived in a restricted cohort.•Gene variant scores are associated with brain modulations.•EPHX1 and BCAS1 are tied to neurodegeneration.•Transcriptomic validation reinforces model insights.