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Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

Kim, Jonggeol Jeffrey; Vitale, Dan; Otani, Diego Véliz; Lian, Michelle Mulan; Heilbron, Karl; the 23andMe Research Team, .; Iwaki, Hirotaka; ... Morris, Huw; + view all (2024) Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease. Nature Genetics , 56 pp. 27-36. 10.1038/s41588-023-01584-8. Green open access

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Abstract

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations.

Type: Article
Title: Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41588-023-01584-8
Publisher version: https://doi.org/10.1038/s41588-023-01584-8
Language: English
Additional information: © The Author(s), 2024. This is an Open Access article distributed under the terms of the Creative Commons Attribution Licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. https://creativecommons.org/licenses/by/4.0/
Keywords: Genomics, Parkinson's disease
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: https://discovery.ucl.ac.uk/id/eprint/10185572
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