Evidence map›Paper›PMID 21738487›Full record

ArticlePLoS genetics2011

Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Chuong B Do, Joyce Y Tung, Elizabeth Dorfman, Amy K Kiefer, Emily M Drabant, Uta Francke, Joanna L Mountain, Samuel M Goldman, Caroline M Tanner, J William Langston and 2 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01351467 (Ongoing, Web-Based Genome-Wide Association Studies for Targeted Disease Initiatives), which is not on this map. Cited by 317 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
317citing papers in PubMed, 11 pooled it
32.2field-weighted citation impact, top 1% 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.

NCT01351467 completednot on this map

Ongoing, Web-Based Genome-Wide Association Studies for Targeted Disease Initiatives

TypeobservationalSponsor23andMe, Inc.Ran2009 to 2021Enrolled13,576ConditionsParkinson's Disease
3 · Its place in the literature

Who cites it

317 citing papers in PubMed, 11 syntheses or guidelines pooled it, 533 citations in OpenAlex.

  1. Pooled it
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  4. Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.Movement disorders : official journal of the Movement Disorder Society · 2022
    Pooled it
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  11. Association between rs6812193 polymorphism and sporadic Parkinson's disease susceptibility.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015
    Pooled it
  12. A specific amino acid motif ofProceedings of the National Academy of Sciences of the United States of America · 2019
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  19. Genetic and environmental risk factors of Parkinsonism.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  20. Article

257 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

12 authors at 2 institutions in 1 country.

Chuong B Do23andMe, Mountain View, California, United States of America. cdo@23andme.com
Joyce Y Tung
Elizabeth Dorfman
Amy K Kiefer
Emily M Drabant
Uta Francke
Joanna L Mountain
Samuel M Goldman
Caroline M Tanner
J William Langston
Anne Wojcicki
Nicholas Eriksson
23andMe (United States) · USParkinson's Institute and Clinical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Although the causes of Parkinson's disease (PD) are thought to be primarily environmental, recent studies suggest that a number of genes influence susceptibility. Using targeted case recruitment and online survey instruments, we conducted the largest case-control genome-wide association study (GWAS) of PD based on a single collection of individuals to date (3,426 cases and 29,624 controls). We discovered two novel, genome-wide significant associations with PD-rs6812193 near SCARB2 (p = 7.6 × 10(-10), OR = 0.84) and rs11868035 near SREBF1/RAI1 (p = 5.6 × 10(-8), OR = 0.85)-both replicated in an independent cohort. We also replicated 20 previously discovered genetic associations (including LRRK2, GBA, SNCA, MAPT, GAK, and the HLA region), providing support for our novel study design. Relying on a recently proposed method based on genome-wide sharing estimates between distantly related individuals, we estimated the heritability of PD to be at least 0.27. Finally, using sparse regression techniques, we constructed predictive models that account for 6%-7% of the total variance in liability and that suggest the presence of true associations just beyond genome-wide significance, as confirmed through both internal and external cross-validation. These results indicate a substantial, but by no means total, contribution of genetics underlying susceptibility to both early-onset and late-onset PD, suggesting that, despite the novel associations discovered here and elsewhere, the majority of the genetic component for Parkinson's disease remains to be discovered.

Indexed as

Genome-Wide Association StudyInternetDatabases, FactualGenetic LociGenetic Predisposition to DiseaseHeredityHumansParkinson DiseasePolymorphism, Single NucleotideRisk Assessment

Identifiers

PMID21738487
PMCPMC3121750
OpenAlexW2144037754

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.