Abstract
Neurodegenerative disorders are devastating diseases with a worldwide health-care burden. Studies have demonstrated enrichment of disease-associated genetic variants with functional genomic annotations. Determining associated cell-types is important to understand pathogenicity.
We obtained GWAS summary statistics from Parkinson’s disease (PD), Alzheimer’s disease (AD), amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), and frontotemporal dementia (FTD). We applied stratified LD score regression to determine if functional categories are enriched for heritability.
There was little enrichment of brain annotations, but annotations from both the innate and adaptive immune systems were enriched for MS (as expected), AD, and PD, in decreasing order of statistical significance.