RT Journal Article
T1 The Parkinson's Disease Genome-Wide Association Study Locus Browser.
A1 Grenn, Francis P
A1 Kim, Jonggeol J
A1 Makarious, Mary B
A1 Iwaki, Hirotaka
A1 Illarionova, Anastasia
A1 Brolin, Kajsa
A1 Kluss, Jillian H
A1 Schumacher-Schuh, Artur F
A1 Leonard, Hampton
A1 Faghri, Faraz
A1 Billingsley, Kimberley
A1 Krohn, Lynne
A1 Hall, Ashley
A1 Diez-Fairen, Monica
A1 Periñán, Maria Teresa
A1 Foo, Jia Nee
A1 Sandor, Cynthia
A1 Webber, Caleb
A1 Fiske, Brian K
A1 Gibbs, J Raphael
A1 Nalls, Mike A
A1 Singleton, Andrew B
A1 Bandres-Ciga, Sara
A1 Reed, Xylena
A1 Blauwendraat, Cornelis
A1 International Parkinson's Disease Genomics Consortium (IPDGC), 
K1 GWAS
K1 Parkinson's disease
K1 prioritization
AB Parkinson's disease (PD) is a neurodegenerative disease with an often complex component identifiable by genome-wide association studies. The most recent large-scale PD genome-wide association studies have identified more than 90 independent risk variants for PD risk and progression across more than 80 genomic regions. One major challenge in current genomics is the identification of the causal gene(s) and variant(s) at each genome-wide association study locus. The objective of the current study was to create a tool that would display data for relevant PD risk loci and provide guidance with the prioritization of causal genes and potential mechanisms at each locus. We included all significant genome-wide signals from multiple recent PD genome-wide association studies including themost recent PD risk genome-wide association study, age-at-onset genome-wide association study, progression genome-wide association study, and Asian population PD risk genome-wide association study. We gathered data for all genes 1 Mb up and downstream of each variant to allow users to assess which gene(s) are most associated with the variant of interest based on a set of self-ranked criteria. Multiple databases were queried for each gene to collect additional causal data. We created a PD genome-wide association study browser tool (https://pdgenetics.shinyapps.io/GWASBrowser/) to assist the PD research community with the prioritization of genes for follow-up functional studies to identify potential therapeutic targets. Our PD genome-wide association study browser tool provides users with a useful method of identifying potential causal genes at all known PD risk loci from large-scale PD genome-wide association studies. We plan to update this tool with new relevant data as sample sizes increase and new PD risk loci are discovered. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by US Government employees and their work is in the public domain in the USA.
YR 2020
FD 2020-08-31
LK http://hdl.handle.net/10668/16180
UL http://hdl.handle.net/10668/16180
LA en
DS RISalud
RD Apr 9, 2025