Classification of GBA1 variants in Parkinson disease; the GBA1-PD browser

Abstract

BackgroundGBA1 variants are among the most common genetic risk factors for Parkinsons Disease (PD). GBA1 variants can be classified into three categories based on their role in Gauchers Disease (GD) or PD: severe, mild, and risk variant (for PD). ObjectivesThis paper aims to generate and share a comprehensive database for GBA1 variants reported in PD to support future research and clinical trials. MethodsWe performed a literature search for all GBA1 variants that have been reported in PD. The data has been standardized and complimented with variant classification, Odds Ratio (OR) if available and other data. ResultsWe found 371 GBA1 variants reported in PD: 22 mild, 84 severe, 3 risk variants, and 262 of unknown status. We created a browser, containing up-to-date information on these variants (https://pdgenetics.shinyapps.io/GBA1Browser/). ConclusionsThe classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1-PD.