Evidence map›Paper›PMID 29141588›Full record

ArticleBMC neurology2017

Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels.

Laura Ibanez, Umber Dube, Benjamin Saef, John Budde, Kathleen Black, Alexandra Medvedeva, Jorge L Del-Aguila, Albert A Davis, Joel S Perlmutter, Oscar Harari and 2 more

Open access · goldAbstract read
In one paragraph

Article in BMC neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
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

41 citing papers in PubMed, 88 citations in OpenAlex.

  1. Trial
  2. Article
  3. Early-Onset Parkinson's Disease: Unique Features and Management Approaches.Current neurology and neuroscience reports · 2025
    Review
  4. Review
  5. Article
  6. Validation of a Mitochondrial Polygenic Score for Parkinson's Disease.medRxiv : the preprint server for health sciences · 2025
    Article
  7. Article
  8. Review
  9. Review
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  12. Review
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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

12 authors at 2 institutions in 2 countries.

Laura IbanezDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
Umber DubeDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
Benjamin SaefDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
John BuddeDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
Kathleen BlackDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
Alexandra MedvedevaDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
Jorge L Del-AguilaDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
Albert A DavisDepartment of Neurology, School of Medicine, Washington University in St Louis, Saint Louis, MO, USA.
Joel S PerlmutterDepartment of Neurology, School of Medicine, Washington University in St Louis, Saint Louis, MO, USA.
Oscar HarariDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
Bruno A BenitezDepartment of Medicine, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA.
Carlos CruchagaDepartment of Psychiatry, School of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA. cruchagac@wustl.edu.ORCID http://orcid.org/0000-0002-0276-2899
Washington University in St. Louis · USSaint Louis University · ES

Funding

INVESTIGATIONS OF DEMENTIA IN PARKINSON DISEASER01NS075321 · NINDS · WASHINGTON UNIVERSITY · PI CAMPBELL, MEGHAN C, PERLMUTTER, JOEL SYNES · 2011 to 2021
$8.2M
MECHANISMS OF DEEP BRAIN STIMULATIONR01NS041509 · NINDS · WASHINGTON UNIVERSITY · PI PERLMUTTER, JOEL SYNES · 2001 to 2015
$6.8M
VALIDATION OF NEUROIMAGING BIOMARKERS FOR NIGROSTRIATAL NEURONSR01NS058714 · NINDS · WASHINGTON UNIVERSITY · PI PERLMUTTER, JOEL SYNES · 2008 to 2016
$4.4M
RESEARCH EDUCATION PROGRAM ON COMPUTATIONAL AND STATISTICAL TOOL DEVELOPMENT FOR ADDICTION GENETICSR25DA027995 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN, RICE, JOHN P. · 2009 to 2019
$4.3M
USING QUANTITATIVE TRAITS TO IDENTIFY NOVEL GENES FOR ALZHEIMERS DISEASE AND OTHER COMPLEX TRAITSRF1AG053303 · NIA · WASHINGTON UNIVERSITY · PI CLIMER, SHARLEE, CRUCHAGA, CARLOS · 2016 to 2020
$4.0M
Investigations of Dementia in Parkinson DiseaseRF1NS075321 · NINDS · WASHINGTON UNIVERSITY · PI CAMPBELL, MEGHAN C, PERLMUTTER, JOEL SYNES · 2023 to 2023
$2.3M
Use of Endophenotypes in the Search for Alzheimer's Disease Risk GenesR01AG035083 · NIA · WASHINGTON UNIVERSITY · PI GOATE, ALISON M · 2010 to 2014
$2.3M
STRUCTURE/FUNCTION OF CNS SYNAPSESR01NS035083 · NINDS · BRANDEIS UNIVERSITY · PI LISMAN, JOHN E · 1997 to 2000
$231k
NIA NIH HHS R01 AG035083NIA NIH HHS RF1 AG053303NIDA NIH HHS R25 DA027995NINDS NIH HHS NS058714NINDS NIH HHS NS075321NINDS NIH HHS NS41509NINDS NIH HHS R01-AG035083NINDS NIH HHS R01 NS041509NINDS NIH HHS R01 NS058714NINDS NIH HHS R01 NS075321NINDS NIH HHS RF1 NS075321
6 · The paper itself

Abstract

backgroundThe genetic architecture of Parkinson's Disease (PD) is complex and not completely understood. Multiple genetic studies to date have identified multiple causal genes and risk loci. Nevertheless, most of the expected genetic heritability remains unexplained. Polygenic risk scores (PRS) may provide greater statistical power and inform about the genetic architecture of multiple phenotypes. The aim of this study was to test the association between PRS and PD risk, age at onset and cerebrospinal fluid (CSF) biomarkers (α-synuclein, Aβ

methodsThe weighted PRS was created using the genome-wide loci from Nalls et al., 2014 PD GWAs meta-analysis. The PRS was tested for association with PD status, age at onset and CSF biomarker levels in 829 cases and 432 controls of European ancestry.

resultsThe PRS was associated with PD status (p = 5.83×10

conclusionOur study suggests that there is an overlap in the genetic architecture of PD risk and onset, although the different loci present different weights for those phenotypes. In our dataset we found a marginal association of the PRS with CSF t-tau but not with α-synuclein CSF levels, suggesting that the genetic architecture for the CSF biomarker levels is different from that of PD risk.

Indexed as

Agedalpha-SynucleinAmyloid beta-PeptidesBiomarkersFemaleGenome-Wide Association StudyHumansMaleMiddle AgedParkinson DiseasePhenotypePhosphorylationRisktau Proteinsalpha-SynucleinAmyloid beta-PeptidesBiomarkerstau ProteinsAge at onsetBiomarkersGeneticsParkinson diseasePolygenic risk score

Identifiers

PMID29141588
PMCPMC5688622
OpenAlexW2768406646

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.