We used the summary statistics results of a large whole-exome sequencing
(WES) study of LOAD, the Alzheimer’s Disease Sequencing Project (ADSP)
case-control study (n = 5,740 LOAD cases and 5,096 cognitively
normal controls of NHW ancestry) to identify genes within our genome-wide loci
that may contribute to the association signal through rare deleterious coding,
splicing or LOF variants. The individuals in the ADSP study largely overlap with
individuals in the ADGC and CHARGE cohorts included in our Stage 1
meta-analysis. All 400 protein-coding genes within our LD-defined genome-wide
loci were annotated with the gene-based results from this study, and the results
were corrected using a 1% FDR P as a cutoff for significance.
Complete details of the analysis can be found in Bis et al.49 (link) and the Supplementary Note.