Evidence map›Paper›PMID 33583074›Full record

SynthesisAnnals of neurology2021

Common X-Chromosome Variants Are Associated with Parkinson Disease Risk.

Yann Le Guen, Valerio Napolioni, Michael E Belloy, Eric Yu, Lynne Krohn, Jennifer A Ruskey, Ziv Gan-Or, Gabriel Kennedy, Sarah J Eger, Michael D Greicius

Open access · greenAbstract readMeta-Analysis
In one paragraph

Synthesis in Annals of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 3 pooled it
6.8field-weighted citation impact, top 3% 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

35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 56 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
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  9. Article
  10. Genetic Analysis of the X Chromosome Associates Loci with Progression of Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  11. Article
  12. Article
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  15. Review
  16. Article
  17. Article
  18. Article
  19. Epidemiology of Parkinson's Disease: An Update.Current neurology and neuroscience reports · 2024
    Review
  20. The Role of X Chromosome in Alzheimer's Disease Genetics.medRxiv : the preprint server for health sciences · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 3 countries.

Yann Le Guen *Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0001-6649-8364
Valerio Napolioni *School of Biosciences and Veterinary Medicine, University of Camerino, Camerino, Italy.
Michael E BelloyDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0001-7748-9033
Eric YuDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID 0000-0003-3525-4564
Lynne KrohnDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID 0000-0001-6554-1666
Jennifer A RuskeyMontreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.
Ziv Gan-OrDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID 0000-0003-0332-234X
Gabriel KennedyDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
Sarah J EgerDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
Michael D GreiciusDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
Montreal Neurological Institute and Hospital · CAStanford University · USUniversità di Camerino · ITZero to Three · US

Funding

Stanford Alzheimer's Disease Research CenterAdmin Supp: Developing iPSC models for AD and PDP30AG066515 · NIA · STANFORD UNIVERSITY · PI Lisa Goldman Rosas · 2020 to 2026
$29.0M
Working Memory in Parkinson Disease: A Cognitive & Systems Neuroscience ApproachP50AG047366 · NIA · STANFORD UNIVERSITY · PI HENDERSON, VICTOR · 2015 to 2019
$7.9M
The Stanford Extreme Phenotypes in Alzheimer's Disease (StEP AD) CohortR01AG060747 · NIA · STANFORD UNIVERSITY · PI GREICIUS, MICHAEL D · 2018 to 2022
$3.4M
Foundation for the National Institutes of Health AG047366Foundation for the National Institutes of Health AG060747NIA NIH HHS P30 AG066515NIA NIH HHS P50 AG047366NIA NIH HHS R01 AG060747Wellcome Trust
6 · The paper itself

Abstract

objectiveThe objective of this study was to identify genetic variants on the X-chromosome associated with Parkinson disease (PD) risk.

methodsWe performed an X-chromosome-wide association study (XWAS) of PD risk by meta-analyzing results from sex-stratified analyses. To avoid spurious associations, we designed a specific harmonization pipeline for the X-chromosome and focused on a European ancestry sample. We included 11,142 cases, 280,164 controls, and 5,379 proxy cases, based on parental history of PD. Additionally, we tested the association of significant variants with (1) PD risk in an independent replication with 1,561 cases and 2,465 controls and (2) putamen volume in 33,360 individuals from the UK Biobank.

resultsIn the discovery meta-analysis, we identified rs7066890 (odds ratio [OR] = 1.10, 95% confidence interval [CI] = 1.06-1.14, p = 2.2 × 10

interpretationWe report the first XWAS of PD and identify 2 genome-wide significant loci. The rs28602900 association was replicated in an independent PD dataset and showed concordant effects in its association with putamen volume. Critically, rs26802900 is a significant eQTL of RPL10. These results support a role for ribosomal proteins in PD pathogenesis and show that the X-chromosome contributes to PD genetic risk. ANN NEUROL 2021;90:22-34.

Indexed as

Chromosomes, Human, XGenetic LociGenetic Predisposition to DiseaseFemaleGenome-Wide Association StudyGenotypeHumansMaleParkinson DiseasePolymorphism, Single Nucleotide

Identifiers

PMID33583074
PMCPMC8601399
OpenAlexW3131274224

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.