Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser

被引：43
|
作者：
Parlar, Sitki Cem [1 ,2 ]
Grenn, Francis P. [3 ]
Kim, Jonggeol Jeffrey [3 ,4 ]
Baluwendraat, Cornelis [3 ,5 ]
Gan-Or, Ziv [1 ,2 ,6 ,7 ]
机构：
[1] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[2] McGill Univ, Neuro Montreal Neurol Inst Hosp, Montreal, PQ, Canada
[3] NIA, Lab Neurogenet, Bethesda, MD USA
[4] Queen Mary Univ London, Wolfson Inst Populat Hlth, Ctr Prevent Diag & Detect, Prevent Neurol Unit, London, England
[5] NIH, Ctr Alzheimers & Related Dementias, Bethesda, MD USA
[6] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada
[7] McGill Univ, Neuro Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, 1033 Pine Ave West,Ludmer Pavil, Montreal, PQ H3A 1A1, Canada
来源：
MOVEMENT DISORDERS | 2023年 / 38卷 / 03期
关键词：
GBA; GBA1; Parkinson's disease; genetics; TYPE-1; GAUCHER-DISEASE; GLUCOCEREBROSIDASE MUTATIONS; HIGH SUSCEPTIBILITY; RISK; ASSOCIATION; E326K; GENE; RECOMMENDATIONS;
D O I：
10.1002/mds.29314
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
BackgroundGBA1 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). ObjectiveThis review 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 have been standardized and complemented with variant classification, odds ratio 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 (). ConclusionsThe classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1-PD. (c) 2023 International Parkinson and Movement Disorder Society.
引用
收藏
页码：489 / 495
页数：7
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