Movement disorders : official journal of the Movement Disorder Society · 2023
Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.
ОбзорСтатьяПоддержка исследования: вне правительства СШАResearch Support, N.I.H., IntramuralНазвание и аннотация: Перевод пока не подготовлен
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Parlar Sitki Cem, Grenn Francis P, Kim Jonggeol Jeffrey, Baluwendraat Cornelis, Gan-Or Ziv
Аннотация
BACKGROUND: GBA1 variants are among the most common genetic risk factors for Parkinson's disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher's disease (GD) or PD: severe, mild, and risk variant (for PD).
OBJECTIVE: This review 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 have been standardized and complemented with variant classification, odds ratio 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. © 2023 International Parkinson and Movement Disorder Society.
OBJECTIVE: This review 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 have been standardized and complemented with variant classification, odds ratio 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. © 2023 International Parkinson and Movement Disorder Society.