Evidence map›Paper›PMID 31123700›Full record

ArticleNPJ Parkinson's disease2019

Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.

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 and 8 more

Abstract read
In one paragraph

Article in NPJ Parkinson's disease, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
93citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

93 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Rethinking Mitochondrial Parkinson's Disease in the α-Synuclein Seed Amplification Assays Era.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Protective Effects of Genetic Proxies of Cognitive Reserve in Parkinson's Disease: A Longitudinal Multi-Cohort Study.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  16. Evaluation of a Mitochondrial Polygenic Score for Parkinson's Disease Across Ancestries.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  17. Review
  18. Validation of a Mitochondrial Polygenic Score for Parkinson's Disease.medRxiv : the preprint server for health sciences · 2025
    Article
  19. Article
  20. Review

33 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Kimberley J Billingsley *1Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, , University of Liverpool, Liverpool, UK.
Ines A Barbosa *3Department of Medical and Molecular Genetics, King's College London School of Basic and Medical Biosciences, London, SE1 9RT UK.
Sara Bandrés-Ciga2Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 USA.
John P Quinn1Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, , University of Liverpool, Liverpool, UK.
Vivien J Bubb1Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, , University of Liverpool, Liverpool, UK.
Charu Deshpande4Clinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London, SE1 9RT UK.
Juan A Botia5Departamento de Ingeniería de la Información y las Comunicaciones, Universidad de Murcia, 30100 Murcia, Spain.
Regina H Reynolds6Department of Neurodegenerative Disease, UCL Institute of Neurology, 10-12 Russell Square House, London, UK.ORCID 0000-0001-6470-7919
David Zhang6Department of Neurodegenerative Disease, UCL Institute of Neurology, 10-12 Russell Square House, London, UK.
Michael A Simpson3Department of Medical and Molecular Genetics, King's College London School of Basic and Medical Biosciences, London, SE1 9RT UK.
Cornelis Blauwendraat2Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 USA.
Ziv Gan-Or7Montreal Neurological Institute, McGill University, Montréal, QC Canada.
J Raphael Gibbs2Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 USA.
Mike A Nalls2Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 USA.
Andrew Singleton2Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 USA.
International Parkinson’s Disease Genomics Consortium (IPDGC)
Mina Ryten *6Department of Neurodegenerative Disease, UCL Institute of Neurology, 10-12 Russell Square House, London, UK.
Sulev Koks *11The Perron Institute for Neurological and Translational Science, 8 Verdun Street, Nedlands, WA 6009 Australia.ORCID 0000-0001-6087-6643

Funding

Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Assessment of Candidate Loci in Neurological diseasesZIAAG000957 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.2M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Intramural NIH HHS Z01 AG000949Medical Research Council G0701075Medical Research Council G0901254Medical Research Council G1001253Medical Research Council MR/J004758/1Medical Research Council MR/K01417X/1Medical Research Council MR/L023784/2Medical Research Council MR/L501542/1Medical Research Council MR/N008324/1Medical Research Council MR/N026004/1Medical Research Council MR/P005748/1Parkinson's UK G-0907Parkinson's UK G-1307
6 · The paper itself

Abstract

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 Mendelian randomization, which showed that 14 of these mitochondrial function-associated genes showed functional consequence associated with PD risk. Further analysis suggested that the 14 identified genes are not only involved in mitophagy, but implicate new mitochondrial processes. Our data suggests that therapeutics targeting mitochondrial bioenergetics and proteostasis pathways distinct from mitophagy could be beneficial to treating the early stage of PD.

Indexed as

Medical geneticsRisk factors

Identifiers

PMID31123700
PMCPMC6531455

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.