ORCID

Abstract

BackgroundGBA mutations are a common risk factor for Parkinson's disease (PD). A recent study has suggested that GBA haplotypes, identified by intronic variants, can affect age at diagnosis of PD.ObjectivesIn this study, we assess this hypothesis using long reads across a large cohort and the publicly available Accelerating Medicines Partnership–Parkinson's Disease (AMP-PD) cohort.MethodsWe recruited a PD cohort through the Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease study (RAPSODI) and sequenced GBA using Oxford Nanopore technology. Genetic and clinical data on the full AMP-PD cohort were obtained from the online portal of the consortium.ResultsA total of 1417 participants were analyzed. There was no significant difference in age at PD diagnosis between the two main haplotypes of the GBA gene.ConclusionsGBA haplotypes do not affect age at diagnosis of PD in the two independent cohorts studied. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

Publication Date

2021-06-01

Publication Title

Movement Disorders

Volume

36

Issue

6

ISSN

0885-3185

Acceptance Date

2021-02-09

Deposit Date

2021-10-21

Embargo Period

2021-10-22

Funding

This study was funded by the Medical Research Council (MRC, MR/M006646/1), Cure Parkinson Trust, Kattan Trust, and an investigator-initiated research grant (IIR-GBR-001110) provided by Shire International GmbH, a member of the Takeda group of companies. Relevant conflicts of interest/financial disclosures: X.C. and M.E. are employees of Illumina Inc.

Keywords

Parkinson's, GBA, haplotypes, intronic variants, genetics

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

First Page

1456

Last Page

1460

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