Intronic Haplotypes in the
 GBA
 Gene Do Not Predict Age at Diagnosis of Parkinson's Disease

Marco Toffoli; Abigail Higgins; Chiao Lee; Sofia Koletsi; Xiao Chen; Michael Eberle; Fritz J. Sedlazeck; Stephen Mullin; Christos Proukakis; Anthony H.V. Schapira

doi:10.1002/mds.28616

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease

Marco Toffoli
, Abigail Higgins
, Chiao Lee
, Sofia Koletsi
, Xiao Chen
, Michael Eberle
, Fritz J. Sedlazeck
, Stephen Mullin
, Christos Proukakis
, Anthony H.V. Schapira^*

^*Corresponding author for this work

Peninsula Medical School

University College London
Illumina, Inc.
Baylor College of Medicine
Peninsula Medical School, Universities of Exeter and Plymouth

Research output: Contribution to journal › Article › peer-review

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Abstract

Background
GBA 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.

Objectives
In 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.

Methods
We 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.

Results
A 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.

Conclusions
GBA 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

Original language	English
Pages (from-to)	1456-1460
Journal	Movement Disorders
Volume	36
Issue number	6
Early online date	19 May 2021
DOIs	https://doi.org/10.1002/mds.28616
Publication status	Published - 1 Jun 2021

Keywords

Parkinson's
GBA
haplotypes
intronic variants
genetics

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@article{510536ca06924a8eab9c53674225bbef,

title = "Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease",

abstract = "Background GBA 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. Objectives In this study, we assess this hypothesis using long reads across a large cohort and the publicly available Accelerating Medicines Partnership{\textendash}Parkinson's Disease (AMP-PD) cohort. Methods We 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. Results A 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. Conclusions GBA haplotypes do not affect age at diagnosis of PD in the two independent cohorts studied. {\textcopyright} 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society",

keywords = "Parkinson's, GBA, haplotypes, intronic variants, genetics",

author = "Marco Toffoli and Abigail Higgins and Chiao Lee and Sofia Koletsi and Xiao Chen and Michael Eberle and Sedlazeck, \{Fritz J.\} and Stephen Mullin and Christos Proukakis and Schapira, \{Anthony H.V.\}",

year = "2021",

month = jun,

day = "1",

doi = "10.1002/mds.28616",

language = "English",

volume = "36",

pages = "1456--1460",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

number = "6",

}

TY - JOUR

T1 - Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease

AU - Toffoli, Marco

AU - Higgins, Abigail

AU - Lee, Chiao

AU - Koletsi, Sofia

AU - Chen, Xiao

AU - Eberle, Michael

AU - Sedlazeck, Fritz J.

AU - Mullin, Stephen

AU - Proukakis, Christos

AU - Schapira, Anthony H.V.

PY - 2021/6/1

Y1 - 2021/6/1

N2 - Background GBA 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. Objectives In 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. Methods We 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. Results A 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. Conclusions GBA 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

AB - Background GBA 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. Objectives In 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. Methods We 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. Results A 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. Conclusions GBA 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

KW - Parkinson's

KW - GBA

KW - haplotypes

KW - intronic variants

KW - genetics

UR - https://pearl.plymouth.ac.uk/pms-research/934/

U2 - 10.1002/mds.28616

DO - 10.1002/mds.28616

M3 - Article

SN - 0885-3185

VL - 36

SP - 1456

EP - 1460

JO - Movement Disorders

JF - Movement Disorders

IS - 6

ER -

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease

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Keywords

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