Authors
Kimberley J Billingsley, Ines A Barbosa, Sara Bandrés-Ciga, John P Quinn, Vivien J Bubb, Charu Deshpande, Juan A Botia, Regina H Reynolds, David Zhang, Michael A Simpson, Cornelis Blauwendraat, Ziv Gan-Or, J Raphael Gibbs, Mike A Nalls, Andrew Singleton, Mina Ryten, Sulev Koks
Publication date
2019/5/22
Journal
npj Parkinson's Disease
Volume
5
Issue
1
Pages
8
Publisher
Nature Publishing Group UK
Description
Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed the role of mitochondrial function-associated genes in sporadic PD by leveraging improvements in the scale and analysis of PD GWAS data with recent advances in our understanding of the genetics of mitochondrial disease. We calculated a mitochondrial-specific polygenic risk score (PRS) and showed that cumulative small effect variants within both our primary and secondary gene lists are significantly associated with increased PD risk. We further reported that the PRS of the secondary mitochondrial gene list was significantly associated with later age at onset. Finally, to identify possible functional genomic associations we implemented …
Total citations
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