Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium

Loading...
Thumbnail Image
File version

Accepted Manuscript (AM)

Author(s)
Grover, Sandeep
Ashwin, Ashok Kumar Sreelatha
Pihlstrom, Lasse
Domenighetti, Cloé
Schulte, Claudia
Sugier, Pierre-Emmanuel
Radivojkov-Blagojevic, Milena
Lichtner, Peter
Mohamed, Océane
Portugal, Berta
Landoulsi, Zied
May, Patrick
Bobbili, Dheeraj
Edsall, Connor
Mellick, George
et al.
Griffith University Author(s)
Primary Supervisor
Other Supervisors
Editor(s)
Date
2022
Size
File type(s)
Location
Abstract

BACKGROUND AND OBJECTIVES: Considerable heterogeneity exists in the literature concerning genetic determinants of the age of onset (AAO) of Parkinson's disease (PD), which could be attributed to lack of well-powered replication cohorts. The previous largest GWAS identified SNCA and TMEM175 loci on chromosome (Chr) 4 with a significant influence on AAO of PD, these have not been independently replicated. The present study aims to conduct a meta-analysis of GWAS of PD AAO and validate previously observed findings in worldwide populations. METHODS: A meta-analysis was performed on PD AAO GWAS of 30 populations of predominantly European ancestry from the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) consortium. This was followed up by combining our study with the largest publicly available European ancestry dataset compiled by the International Parkinson disease Genomics Consortium (IPDGC). RESULTS: The COURAGE-PD included a cohort of 8,535 patients with PD (91.9%: Europeans, 9.1%: East-Asians). The average AAO in the COURAGE-PD dataset was 58.9 years (SD=11.6), with an under-representation of females (40.2%). The heritability estimate for AAO in COURAGE-PD was 0.083 (SE=0.057). None of the loci reached genome-wide significance (P<5x10-8). Nevertheless, the COURAGE-PD dataset confirmed the role of the previously published TMEM175 variant as genetic determinant of AAO of PD with Bonferroni-corrected nominal levels of significance (P<0.025): (rs34311866:β(SE)COURAGE=0.477(0.203), PCOURAGE=0.0185). The subsequent meta-analysis of COURAGE-PD and IPDGC datasets (Ntotal=25,950) led to the identification of two genome-wide significant association signals on Chr 4, including the previously reported SNCA locus (rs983361:β(SE)COURAGE+IPDGC=0.720(0.122), PCOURAGE+IPDGC=3.13x10-9) and a novel BST1 locus (rs4698412:β(SE)COURAGE+IPDGC=-0.526(0.096), PCOURAGE+IPDGC=4.41x10-8). DISCUSSION: Our study further refines the genetic architecture of Chr 4 underlying the AAO of the PD phenotype through the identification of BST1 as a novel AAO PD locus. These findings open a new direction for the development of treatments to delay the onset of PD.

Journal Title

Neurology

Conference Title
Book Title
Edition
Volume
Issue
Thesis Type
Degree Program
School
Publisher link
Patent number
Funder(s)

NHMRC

Grant identifier(s)

401537

Rights Statement
Rights Statement

Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Item Access Status
Note

This publication has been entered in Griffith Research Online as an advanced online version.

Access the data
Related item(s)
Subject

Medical genetics (excl. cancer genetics)

Neurosciences

Clinical sciences

Age at onset

Burden of disease

Duration of disease

Genetic heritability

Parkinson’s disease

Persistent link to this record
Citation

Grover, S; Ashwin, AKS; Pihlstrom, L; Domenighetti, C; Schulte, C; Sugier, P-E; Radivojkov-Blagojevic, M; Lichtner, P; Mohamed, O; Portugal, B; Landoulsi, Z; May, P; Bobbili, D; Edsall, C; Bartusch, F et al., Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium, Neurology, 2022

Collections