DESCRIPTION
This was an investigation to test if the genes in the endo-lysosomal system were enriched for genetic associations with Alzheimer's or Parkinson's disease. Two endo-lysosomal pathways were defined a priori: AphagEndoLyso comprised 891 genes and MenDisLyso was defined as a subset of 142 genes out of the 891 that were associated with Mendelian diseases. Both endo-lysosomal pathways were enriched for Alzheimer’s associations (P < 0.001). The APOE locus did not explain the AphagEndoLyso signal. We also observed an enrichment of Parkinson’s associations for both pathways (P < 0.001). The data package contains the gene sets we used in the study and summary statistics for rare and common variants we estimated from exome sequencing data (5,777 cases and 5,136 controls, dbGap dataset phs000572.v7.p4).

CONTENTS
- The folder 'ADSPcommon' contains the GWAS summary statistics and population structure for the common variants in the exome sequencing dataset dbGAP:phs000572.v7.p4.
- The folder 'ADSPrare' contains sex-specific gene burden results using rare variants in the exome sequencing dataset dbGAP:phs000572.v7.p4.
- The folder 'Example' contains the basic analysis pipeline and software tool used in the study. It also contains the gene sets for the endo-lysosomal system.
- Additional information is available in the log and readme files within the folders.

REFERENCE
Gao S et al. (2018) Genetic variation within endolysosomal system is associated with late-onset Alzheimer’s disease. Brain 141:2711-2720, doi:10.1093/brain/awy197