Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.
Mov Disord
; 38(3): 489-495, 2023 03.
Article
en En
| MEDLINE
| ID: mdl-36598340
ABSTRACT
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Parkinson
/
Enfermedad de Gaucher
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Mov Disord
Asunto de la revista:
NEUROLOGIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Canadá