Evidence map›Paper›PMID 27461410›Full record

ArticleScientific reports2016

Enrichment of risk SNPs in regulatory regions implicate diverse tissues in Parkinson's disease etiology.

Simon G Coetzee, Steven Pierce, Patrik Brundin, Lena Brundin, Dennis J Hazelett, Gerhard A Coetzee

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing 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

38 citing papers in PubMed, 55 citations in OpenAlex.

  1. 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

6 authors at 2 institutions in 1 country.

Simon G CoetzeeBioinformatics and Computational Biology Research Center, Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Steven PierceCenter for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan, USA.
Patrik BrundinCenter for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan, USA.
Lena BrundinCenter for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan, USA.
Dennis J HazelettBioinformatics and Computational Biology Research Center, Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Gerhard A CoetzeeCenter for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan, USA.
Van Andel Institute · USCedars-Sinai Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent genome-wide association studies (GWAS) of Parkinson's disease (PD) revealed at least 26 risk loci, with associated single nucleotide polymorphisms (SNPs) located in non-coding DNA having unknown functions in risk. In order to explore in which cell types these SNPs (and their correlated surrogates at r(2) ≥ 0.8) could alter cellular function, we assessed their location overlap with histone modification regions that indicate transcription regulation in 77 diverse cell types. We found statistically significant enrichment of risk SNPs at 12 loci in active enhancers or promoters. We investigated 4 risk loci in depth that were most significantly enriched (-logeP > 14) and contained 8 putative enhancers in the different cell types. These enriched loci, along with eQTL associations, were unexpectedly present in non-neuronal cell types. These included lymphocytes, mesendoderm, liver- and fat-cells, indicating that cell types outside the brain are involved in the genetic predisposition to PD. Annotating regulatory risk regions within specific cell types may unravel new putative risk mechanisms and molecular pathways that contribute to PD development.

Indexed as

Polymorphism, Single NucleotideQuantitative Trait LociRegulatory Sequences, Nucleic AcidChromosomes, HumanGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLinkage DisequilibriumParkinson DiseasePromoter Regions, GeneticTranscription FactorsTranscription Factors

Identifiers

PMID27461410
PMCPMC4962314
OpenAlexW2483299175

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.