Evidence map›Paper›PMID 25897833›Full record

ArticleTranslational psychiatry2015

Genome-wide association study of behavioural and psychiatric features in human prion disease.

A G B Thompson, J Uphill, J Lowe, M-C Porter, A Lukic, C Carswell, P Rudge, A MacKay, J Collinge, S Mead

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational psychiatry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 44% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Best behaviour? Ontologies and the formal description of animal behaviour.Mammalian genome : official journal of the International Mammalian Genome Society · 2015
    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

10 authors at 3 institutions in 1 country.

A G B Thompson1] MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK [2] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, UK.
J UphillMRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK.
J Lowe1] MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK [2] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, UK.
M-C Porter1] MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK [2] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, UK.
A Lukic1] MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK [2] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, UK.
C Carswell1] MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK [2] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, UK.
P Rudge1] MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK [2] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, UK.
A MacKayNHS Highland Mental Health Services, Argyll and Bute Hospital, Lochgilphead, Argyll, UK.
J Collinge1] MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK [2] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, UK.
S Mead1] MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, London, UK [2] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, UK.
MRC Prion Unit · GBUniversity College London · GBArgyll and Bute Hospital · GB

Funding

Department of HealthMedical Research Council G0400713
6 · The paper itself

Abstract

Prion diseases are rare neurodegenerative conditions causing highly variable clinical syndromes, which often include prominent neuropsychiatric symptoms. We have recently carried out a clinical study of behavioural and psychiatric symptoms in a large prospective cohort of patients with prion disease in the United Kingdom, allowing us to operationalise specific behavioural/psychiatric phenotypes as traits in human prion disease. Here, we report exploratory genome-wide association analysis on 170 of these patients and 5200 UK controls, looking for single-nucleotide polymorphisms (SNPs) associated with three behavioural/psychiatric phenotypes in the context of prion disease. We also specifically examined a selection of candidate SNPs that have shown genome-wide association with psychiatric conditions in previously published studies, and the codon 129 polymorphism of the prion protein gene, which is known to modify various aspects of the phenotype of prion disease. No SNPs reached genome-wide significance, and there was no evidence of altered burden of known psychiatric risk alleles in relevant prion cases. SNPs showing suggestive evidence of association (P<10(-5)) included several lying near genes previously implicated in association studies of other psychiatric and neurodegenerative diseases. These include ANK3, SORL1 and a region of chromosome 6p containing several genes implicated in schizophrenia and bipolar disorder. We would encourage others to acquire phenotype data in independent cohorts of patients with prion disease as well as other neurodegenerative and neuropsychiatric conditions, to allow meta-analysis that may shed clearer light on the biological basis of these complex disease manifestations, and the diseases themselves.

Indexed as

AnkyrinsArgonaute ProteinsBipolar DisorderCarrier ProteinsCase-Control StudiesChromosomes, Human, Pair 6Cohort StudiesCreutzfeldt-Jakob SyndromeDelusionsDepressionGenome-Wide Association StudyHallucinationsHumansMajor Depressive DisorderMood DisordersNerve Tissue ProteinsAGK protein, humanANK3 protein, humanAnkyrinsArgonaute ProteinsCarrier ProteinsNerve Tissue ProteinsPhosphotransferases (Alcohol Group Acceptor)PIWIL4 protein, humanPrion ProteinsPrionsPRNP protein, humanRNA-Binding ProteinsSNCAIP protein, human

Identifiers

PMID25897833
PMCPMC4462605
OpenAlexW1982839499

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.