We are pleased to announce that the genetic data harmonisation manuscript for the AMYPAD consortium has been published in the journal Alzheimer’s & Dementia! In this paper, authors provide a detailed pipeline for genotype array data QC, imputation, harmonisation, and polygenic risk scores (PRS) computation. They also show how PRS can be used in association with amyloid PET burden and their predictive ability in this deeply phenotyped cohort.
Highlights of the paper:
- We developed a robust harmonization pipeline for multi-cohort genotype array data.
- Cerebrospinal fluid amyloid beta (Aβ)-specific polygenic risk scores (PRS) more strongly predicted global Aβ positron emission tomography burden than other PRS.
- Results suggest a strong genetic predisposition to early Aβ pathology.
- This work highlights the need for robust data harmonization and data pooling.
- This work also validates the potential use of PRS as a non-invasive tool to assess Alzheimer’s disease risk.
Congratulations to Emma Luckett, the first author of the papers and to all co-authors: Yasmina Abakkouy, Luigi Lorenzini, Lyduine E. Collij, David Vallez Garcia, Pieter Jelle Visser, Anouk den Braber, Craig Ritchie, Mercè Boada, Patricia Genius, Natàlia Vilor-Tejedor, Juan Domingo Gispert, Rik Vandenberghe, Frederik Barkhof, Isabelle Cleynen
The paper is available here: https://doi.org/10.1002/alz.70376
