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

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.

Underrepresented Populations Working Group

The Underrepresented Populations working group, facilitates increased representation and analysis of genetic factors associated with Parkinson’s disease in non-European populations.
Learn more about Underrepresented Populations Working Group

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Date Posted Type Shared Output Name Link Identifier
August 6, 2022 Research Multi-ancestry genome-wide meta-analysis in Parkinson’s disease https://www.medrxiv.org/content/10.1101/2022.08.04.22278432v1 5hg4li3szEu9Ccle3EkxpB

Meet the authors

Graduate Student

Jonggeol Jeff Kim, BA

National Institutes of Health | USA

Data Scientist

Dan Vitale

National Institutes of Health | USA

Humboldt Research Fellow

Karl Heilbron, PhD

Charité - Universitätsmedizin Berlin | Berlin, Germany

Researcher

Hirotaka Iwaki, MD, PhD

Data Tecnica International | USA

Fellow

Julie Lake, BSc

National Institute on Aging | USA

Lead of Collaborative Research

Hampton Leonard

National Institute on Aging/National Institutes of Health | USA