Alzheimer’s disease (AD) is a neurodegenerative disease affecting roughly 40 million people. 70% of the heritability of AD is expected to be explained by Structural Variants (SVs), however these have been scarcely studied in the context of AD. This study aims to find SVs associat
...
Alzheimer’s disease (AD) is a neurodegenerative disease affecting roughly 40 million people. 70% of the heritability of AD is expected to be explained by Structural Variants (SVs), however these have been scarcely studied in the context of AD. This study aims to find SVs associated with AD and to investigate the properties of these correlated SVs. To this end, a dataset created using Third Generation Sequencing of Single Nucleotide Polymorphisms (SNPs) and their correlation with SVs was utilised and combined with the full summary statistics and fine-mapped results of a large AD Genome Wide Association Study. This resulted in 85 unique SVs with significant correlations to known AD associated SNPs, of which 5 were also discovered in previous research, and 80 were novel. SVs were then associated with their nearest genes, however this resulted in a relatively low overlap with known AD genes and few to no results when applied to Gene Set Enrichment Analysis. Additionally, the data was tested for enrichment of Tandem Repeats (TRs), Transposable Elements, regulatory elements and mechanisms of gene expression, which found enrichment of TRs and heterochromatin areas and a depletion of deletions, weak enhancers, and transcription elongation areas.