Polygenic Parkinson’s Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease

By Cornelis Blauwendraat, PhD, Nahid Tayebi, PhD, Elizabeth Geena Woo, Grisel Lopez, MD, Luca Fierro, Marco Toffoli, MD, Naomi Limbachiya, Derralynn Hughes, Vanessa Pitz, Dhairya Patel, Dan Vitale, Mathew J Koretsky, Dena Hernandez, Raquel Real, PhD, Roy Alcalay, Mike Nalls, Huw Morris, Anthony Schapira, PhD, Manisha Kumari, PhD, Ellen Sidransky, MD

Published March 3, 2023

View Published Article View Preprint

Description

Biallelic pathogenic variants in GBA1 are the cause of Gaucher disease (GD) type 1 (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. Heterozygous GBA1 variants are also a common genetic risk factor for Parkinson's disease (PD). GD manifests with considerable clinical heterogeneity and is also associated with an increased risk for PD. The objective of this study was to investigate the contribution of PD risk variants to risk for PD in patients with GD1.

Identifier (DOI)

10.1002/mds.29342

Tags

Gaucher disease
Original Research
PRS (Polygenic risk score)

Program

Global Parkinson's Genetics Program

Meet the Authors

Cornelis Blauwendraat, PhD

Coalition for Aligning Science
Nahid Tayebi, PhD

Key Personnel: Team Vangheluwe,

National Human Genome Research Institute
Elizabeth Geena Woo

External Collaborator
Grisel Lopez, MD

Key Personnel: Team Vangheluwe,

National Human Genome Research Institute
Luca Fierro

External Collaborator
Marco Toffoli, MD

Key Personnel: Team Schapira,

University College London
Naomi Limbachiya

External Collaborator
Derralynn Hughes

External Collaborator
Vanessa Pitz

External Collaborator
Dhairya Patel

External Collaborator
Dan Vitale

External Collaborator
Mathew J Koretsky

External Collaborator
Dena Hernandez

External Collaborator
Raquel Real, PhD

Key Personnel: Team Hardy,

University College London
Roy Alcalay

External Collaborator
Mike Nalls

External Collaborator
Huw Morris

Collaborating PI: Team Hardy,

University College London
Anthony Schapira, PhD

Lead PI (Core Leadership): Team Schapira,

University College London
Manisha Kumari, PhD

Key Personnel: Team Kaplitt,

Johns Hopkins Medicine
Ellen Sidransky, MD

Co-PI (Core Leadership): Team Vangheluwe,

National Human Genome Research Institute