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

Abstract

Background: GBA1 variants are among the most common genetic risk factors for Parkinson Disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher Disease (GD) or PD: severe, mild, and risk variant (for PD). Objectives: This paper aims to generate and share a comprehensive database for GBA1 variants reported in PD to support future research and clinical trials. Methods: We 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. Results: We 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/). Conclusions: The classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1-PD.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This work has been supported by grants from the Michael J. Fox Foundation and the Canadian Consortium on Neurodegeneration in Aging (CCNA). This work was supported in part by the Intramural Research Programs of the National Institute on Aging (NIA).

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