Evidence map›Paper›PMID 28256260›Full record

ArticleNeurobiology of aging2017

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study.

Ari Siitonen, Michael A Nalls, Dena Hernández, J Raphael Gibbs, Jinhui Ding, Pauli Ylikotila, Connor Edsall, Andrew Singleton, Kari Majamaa

Abstract read
In one paragraph

Article in Neurobiology of aging, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
3.5field-weighted citation impact, top 7% 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

32 citing papers in PubMed, 49 citations in OpenAlex.

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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

9 authors at 4 institutions in 3 countries.

Ari SiitonenResearch Unit of Clinical Neuroscience, Department of Neurology, University of Oulu, Oulu, Finland; Medical Research Center Oulu, Department of Neurology, Oulu University Hospital and University of Oulu, Oulu, Finland. Electronic address: ari.siitonen@iki.fi.
Michael A NallsLaboratory of Neurogenetics, National Institute on Aging, Bethesda, USA; Kelly Services, Rockville, MD, USA.
Dena HernándezLaboratory of Neurogenetics, NIA, NIH, Bethesda, MD, USA; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
J Raphael GibbsLaboratory of Neurogenetics, NIA, NIH, Bethesda, MD, USA.
Jinhui DingLaboratory of Neurogenetics, NIA, NIH, Bethesda, MD, USA.
Pauli YlikotilaDivision of Clinical Neurosciences, Department of Neurology, Turku University Hospital, Turku, Finland; Department of Neurology, Institute of Clinical Medicine, University of Turku, Turku, Finland.
Connor EdsallLaboratory of Neurogenetics, NIA, NIH, Bethesda, MD, USA.
Andrew SingletonLaboratory of Neurogenetics, NIA, NIH, Bethesda, MD, USA.
Kari MajamaaResearch Unit of Clinical Neuroscience, Department of Neurology, University of Oulu, Oulu, Finland; Medical Research Center Oulu, Department of Neurology, Oulu University Hospital and University of Oulu, Oulu, Finland; Department of Neurology, Oulu University Hospital, Oulu, Finland.
National Institutes of Health · USOulu University Hospital · FINational Institute on Aging · USUniversity of Turku · FI

Funding

Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Genetic analysis in families with neurological diseaseZIAAG000958 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$10.9M
Whole Genome Screen in families with Parkinson's diseaseZ01AG000958 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2003 to 2008
$1.4M
Intramural NIH HHS Z01 AG000958
6 · The paper itself

Abstract

Several genes and risk factors are associated with Parkinson's disease (PD). Although many of the genetic markers belong to a common pathway, a unifying pathogenetic mechanism is yet to be found. Also, missing heritability analyses have estimated that only part of the genetic influence contributing to PD has been found. Here, we carried out whole-exome sequencing (WES) on 438 Finnish patients with early-onset PD. We also reanalyzed previous data from genome-wide association studies (GWAS) on the same cohort. Variants in the CEL gene/locus were associated with PD in both GWAS and WES analysis. Exome-wide gene-based association tests also identified the MPHOSPH10, TAS2R19, and SERPINA1 genes in the discovery data set (p < 2.5E-6). MPHOSPH10 had estimated odds ratio (OR) of 1.53, and the rs141620200 variant in SERPINA1 had OR of 1.27. We identified several candidate genes, but further investigation is required to determine the role of these genes in PD.

Indexed as

Genome-Wide Association Studyalpha 1-AntitrypsinBase SequenceCohort StudiesExomeFinlandGenetic Predisposition to DiseaseHumansParkinson DiseasePhosphoproteinsRibonucleoproteinsSequence Analysis, DNAalpha 1-AntitrypsinMPHOSPH10 protein, humanPhosphoproteinsRibonucleoproteinsSERPINA1 protein, humanFinnishGWASPDWESWXS

Identifiers

PMID28256260
PMCPMC5385296
OpenAlexW2583917533

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.