Genome‐wide association study on Alzheimer’s disease CSF profiles in the EMIF‐AD MBD and ADNI datasets

Genome‐wide association studies (GWAS) of Alzheimer’s disease (AD) have identified several risk loci, but many remain unknown and disease mechanisms are often unclear. Using CSF biomarkers of AD as outcome may aid in gene discovery and in elucidating disease processes. We previously demonstrated that six CSF biomarkers (β‐amyloid, total/phosphorylated tau, NFL, YKL‐40, and neurogranin) can be robustly clustered into five profiles by principal components (PC) analysis, each representing statistically independent biological processes. Our goals here were: 1. To identify common genetic variants associated with these profiles; 2 To assess the role of associated variants in AD pathophysiology and 3. Explore potential sex differences.