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 and Ellen Sidransky, MD
Published March 3, 2023
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Output Details

Published March 3, 2023

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

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    Elizabeth Geena Woo

  • Grisel Lopez, MD

    Key Personnel: Team Vangheluwe, 

    National Human Genome Research Institute

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    Luca Fierro

  • Marco Toffoli, MD

    Key Personnel: Team Schapira, 

    University College London

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    Naomi Limbachiya

  • User avatar fallback logo

    Derralynn Hughes

  • User avatar fallback logo

    Vanessa Pitz

  • User avatar fallback logo

    Dhairya Patel

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    Dan Vitale

  • User avatar fallback logo

    Mathew J Koretsky

  • User avatar fallback logo

    Dena Hernandez

  • User avatar fallback logo

    Raquel Real, PhD

    Key Personnel: Team Hardy, 

    University College London

  • User avatar fallback logo

    Roy Alcalay

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    Mike Nalls

  • Huw Morris

    Collaborating PI: Team Hardy, 

    University College London

  • Anthony Schapira, PhD

    Lead PI (Core Leadership): Team Schapira, 

    University College London

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    Manisha Kumari, PhD

    Key Personnel: Team Kaplitt, 

    Johns Hopkins Medicine

  • Ellen Sidransky, MD

    Co-PI (Core Leadership): Team Vangheluwe, 

    National Human Genome Research Institute