Evidence map›Paper›PMID 37090536›Full record

ArticleResearch square2023

Analysis of rare Parkinson's disease variants in millions of people.

Vanessa Pitz, Mary Makarious, Sara Bandrés-Ciga, Hirotaka Iwaki, Andrew Singleton, Mike Nalls, Karl Heilbron, Cornelis Blauwendraat

Open access · greenAbstract readPreprint
In one paragraph

Article in Research square, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 1 country.

Vanessa PitzNIA/NIH.ORCID 0000-0002-2964-5553
Mary MakariousNIH.ORCID 0000-0002-7978-1051
Sara Bandrés-CigaLaboratory of Neurogenetics National Institute on Aging.
Hirotaka IwakiData Tecnica International.
Andrew SingletonNational Institute on Aging (NIA), NIH.ORCID 0000-0001-5606-700X
Mike NallsNational Institutes of Health.
Karl Heilbron23andMe Inc.
Cornelis BlauwendraatNIH.ORCID 0000-0001-9358-8111
National Institute on Aging · US23andMe (United States) · USData Tecnica International (United States) · USNational Institutes of Health · US

Funding

NINDS Biomarker RepositoryU24NS095871 · NINDS · INDIANA UNIVERSITY INDIANAPOLIS · PI TATIANA M. FOROUD · 2015 to 2026
$18.3M
Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Genome sequencing of Lewy Body Dementia and Frontotemporal Dementia: a public resource for the study of Alzheimers disease and related dementiasZIAAG000935 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2017 to 2025
$771k
Intramural NIH HHS Z01 AG000949Intramural NIH HHS ZIA AG000935Intramural NIH HHS ZIA NS003154NINDS NIH HHS U24 NS095871
6 · The paper itself

Abstract

Objective: Although many rare variants have been reportedly associated with Parkinson's disease (PD), many have not been replicated or have failed to replicate. Here, we conduct a large-scale replication of rare PD variants. Methods: We assessed a total of 27,590 PD cases, 6,701 PD proxies, and 3,106,080 controls from three data sets: 23andMe, Inc., UK Biobank, and AMP-PD. Based on well-known PD genes, 834 variants of interest were selected from the ClinVar annotated 23andMe dataset. We performed a meta-analysis using summary statistics of all three studies. Results: The meta-analysis resulted in 11 significant variants after Bonferroni correction, including variants in Conclusions: Here, we provide the largest rare variant meta-analysis to date, providing thorough information of variants confirmed, newly identified, or rebutted for their association with PD.

Indexed as

geneticsParkinson’srare variants

Identifiers

PMID37090536
PMCPMC10120789
OpenAlexW4363675007

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.