Evidence map›Paper›PMID 32964108›Full record

ReviewNPJ Parkinson's disease2020

Post-GWAS knowledge gap: the how, where, and when.

Steven E Pierce, Alix Booms, Jordan Prahl, Edwin J C van der Schans, Trevor Tyson, Gerhard A Coetzee

Abstract readReview
In one paragraph

Review in NPJ Parkinson's disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024
    Review
  5. Article
  6. Review
  7. Review
  8. Big Data in Gastroenterology Research.International journal of molecular sciences · 2023
    Review
  9. Article
  10. Article
  11. Genetic Elements at the Alpha-Synuclein Locus.Frontiers in neuroscience · 2022
    Review
  12. Article
  13. Review
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

6 authors.

Steven E PierceCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI USA.
Alix BoomsCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI USA.ORCID 0000-0001-5907-9313
Jordan PrahlCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI USA.ORCID 0000-0002-5088-5981
Edwin J C van der SchansCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI USA.
Trevor TysonCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI USA.
Gerhard A CoetzeeCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI USA.ORCID 0000-0001-8820-8364

Funding

Epigenetic contributions to symptom asymmetry in Parkinson's diseaseR01NS113894 · NINDS · VAN ANDEL RESEARCH INSTITUTE · PI COETZEE, GERHARD A · 2020 to 2024
$2.2M
NINDS NIH HHS R01 NS113894
6 · The paper itself

Abstract

Genetic risk for complex diseases very rarely reflects only Mendelian-inherited phenotypes where single-gene mutations can be followed in families by linkage analysis. More commonly, a large set of low-penetrance, small effect-size variants combine to confer risk; they are normally revealed in genome-wide association studies (GWAS), which compare large population groups. Whereas Mendelian inheritance points toward disease mechanisms arising from the mutated genes, in the case of GWAS signals, the effector proteins and even general risk mechanism are mostly unknown. Instead, the utility of GWAS currently lies primarily in predictive and diagnostic information. Although an amazing body of GWAS-based knowledge now exists, we advocate for more funding towards the exploration of the fundamental biology in post-GWAS studies; this research will bring us closer to causality and risk gene identification. Using Parkinson's Disease as an example, we ask, how, where, and when do risk loci contribute to disease?

Indexed as

GenomicsNeurological disorders

Identifiers

PMID32964108
PMCPMC7481221

What OpenQuestion holds

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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.