The Parkinson's Disease Genome-Wide Association Study Locus Browser

Area of Science:

• Genetics
• Neuroscience
• Bioinformatics

Background:

• Parkinson's disease (PD) is a complex neurodegenerative disorder with numerous genetic risk variants identified through genome-wide association studies (GWAS).
• Identifying the specific causal genes and variants within these GWAS loci remains a significant challenge in PD research.
• Over 90 independent risk variants across 80 genomic regions have been linked to PD risk and progression.

Purpose of the Study:

• To develop a bioinformatics tool to display data for Parkinson's disease (PD) risk loci.
• To provide guidance for prioritizing causal genes and understanding potential mechanisms at each PD GWAS locus.
• To facilitate the identification of potential therapeutic targets for Parkinson's disease.

Main Methods:

• Integrated data from multiple large-scale PD GWAS, including risk, age-at-onset, progression, and Asian population studies.
• Collected data for genes within a 1 Mb window upstream and downstream of each significant GWAS variant.
• Queried multiple databases to gather comprehensive causal data for each gene.

Main Results:

• Developed and launched a Parkinson's disease GWAS browser tool (https://pdgenetics.shinyapps.io/GWASBrowser/).
• The tool enables researchers to assess gene-variant associations based on user-defined criteria.
• Facilitates the prioritization of genes for functional studies to identify potential therapeutic targets.

Conclusions:

• The PD GWAS browser tool offers a valuable resource for the research community.
• It aids in identifying potential causal genes at known PD risk loci from large-scale GWAS.
• The tool will be updated with new data as PD research advances and more risk loci are discovered.