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. Also observed an enrichment of Parkinson’s associations for both pathways (P < 0.001). The data package contains the gene sets used in the study and summary statistics for rare and common variants estimated from exome sequencing data (5,777 cases and 5,136 controls, dbGap dataset phs000572.v7.p4).
This study was supported by the EMBL Australia Partnership Programme, the University of Adelaide and the South Australian Health and Medical Research Institute.