Penetrance estimation of SORL1 loss-of-function variants using a family-based strategy adjusted on APOE genotypes suggest a non-monogenic inheritance
Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, CNRMAJ collaborators, Anne Boland, Jean‐François Deleuze, Robert Olaso, Flora Alarcon, Dominique Campion, Grégory Nuel, Gaël Nicolas
The paper estimates the penetrance of SORL1 loss-of-function variants in Alzheimer's disease using a family-based survival model adjusted for APOE genotypes, finding high penetrance only in APOE-ε4ε4 carriers.
bioRxiv · Jun 30, 2021 · PreprintGenetics