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
相关论文
共 50 条
  • [21] Mapping the GBA1 gene rare variants and their effects in a Hungarian Parkinson's Disease Cohort
    Szlepak, Tamas
    Kossev, Annabel Plamen
    Csaban, Dora
    Illes, Anett
    Borsos, Beata
    Balicza, Peter
    Grosz, Zoltan
    Takats, Annamaria
    Klivenyi, Peter
    Molnar, Maria Judit
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 297 - 297
  • [22] Contrasting Olfactory Perception in Parkinson's disease (PD): Impact of GBA1 Gene Mutations
    Schechter, Y.
    Dominko, M.
    Cohen, M.
    Yahalom, G.
    Zimran, A.
    Revel-Vilk, S.
    Shulman, E.
    Dinur, T.
    Cohen, M. Becker
    MOVEMENT DISORDERS, 2024, 39 : S140 - S140
  • [23] GBA1 and The Immune System: A Potential Role in Parkinson's Disease?
    Al-Azzawi, Zaid A. M.
    Arfaie, Saman
    Gan-Or, Ziv
    JOURNAL OF PARKINSONS DISEASE, 2022, 12 : S53 - S64
  • [24] The Functional Consequences of the 'African GBA1 Allele' of rs3115534 in Parkinson's disease (PD)
    Radefeldt, M.
    Demuth, L.
    Al-Ali, R.
    Fischer, S.
    Beetz, C.
    Bauer, P.
    MOVEMENT DISORDERS, 2024, 39 : S750 - S750
  • [25] Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease
    Surface, Matthew
    Balwani, Manisha
    Waters, Cheryl
    Haimovich, Alexander
    Gan-Or, Ziv
    Marder, Karen S.
    Hsieh, Tammy
    Song, Linxia
    Padmanabhan, Shalini
    Hsieh, Frank
    Merchant, Kalpana M.
    Alcalay, Roy N.
    MOVEMENT DISORDERS, 2022, 37 (02) : 416 - 421
  • [26] GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters
    Gabbert, Carolin
    Schaake, Susen
    Lueth, Theresa
    Much, Christoph
    Klein, Christine
    Aasly, Jan O.
    Farrer, Matthew J.
    Trinh, Joanne
    BMC GENOMICS, 2023, 24 (01)
  • [27] Generation of GBA1 isogenic iPSC lines to investigate the pathogenesis of GBA1-associated Parkinson disease
    Ma, Charis
    Chen, Yu
    Chen, Chase
    Sidransky, Ellen
    MOLECULAR GENETICS AND METABOLISM, 2024, 141 (02)
  • [28] Male sex accelerates cognitive decline in GBA1 Parkinson's disease
    Caminiti, Silvia Paola
    Avenali, Micol
    Galli, Alice
    Malito, Rachele
    Cuconato, Giada
    Galandra, Caterina
    Calabrese, Rosaria
    Pilotto, Andrea
    Padovani, Alessandro
    Blandini, Fabio
    Perani, Daniela
    Tassorelli, Cristina
    Valente, Enza Maria
    NPJ PARKINSONS DISEASE, 2025, 11 (01)
  • [29] GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters
    Carolin Gabbert
    Susen Schaake
    Theresa Lüth
    Christoph Much
    Christine Klein
    Jan O. Aasly
    Matthew J. Farrer
    Joanne Trinh
    BMC Genomics, 24
  • [30] A newly implemented NGS-based method to detect GBA1 variants in patients with Parkinson's disease
    Monfrini, E.
    Palmieri, I.
    Cuconato, G.
    Percetti, M.
    Cortelli, P.
    Di Fonzo, A.
    Valente, E. M.
    MOVEMENT DISORDERS, 2023, 38 : S484 - S484
12345