Evidence map›Paper›PMID 27055460›Full record

ArticleBMC medical genetics2016

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

Rubika Balendra, James Uphill, Claire Collinson, Ronald Druyeh, Gary Adamson, Holger Hummerich, Inga Zerr, Pierluigi Gambetti, John Collinge, Simon Mead

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

Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 37% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
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 4 institutions in 3 countries.

Rubika BalendraMRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
James UphillMRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Claire CollinsonMRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Ronald DruyehMRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Gary AdamsonMRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Holger HummerichMRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Inga ZerrClinical Dementia Center, Department of Neurology, Georg-August University Göttingen, Göttingen, Germany.
Pierluigi GambettiDepartment of Pathology, Case Western Reserve University, Cleveland, OH, 44060, USA.
John CollingeMRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Simon MeadMRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. s.mead@prion.ucl.ac.uk.
MRC Prion Unit · GBUniversity College London · GBCase Western Reserve University · USGerman Center for Neurodegenerative Diseases · DE

Funding

Medical Research Council MC_U123160651Medical Research Council MC_U123160657Wellcome TrustWellcome Trust 107196/Z/14/Z
6 · The paper itself

Abstract

backgroundHuman prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent association study identified variants in or near to the PLCXD3 gene locus as strong disease risk factors in multiple human prion diseases. This study claimed the first non-PRNP locus to be highly significantly associated with prion disease in genomic studies.

methodsA sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. Whole exome sequencing to identify rare coding variants of PLCXD3.

resultsImputation of relevant polymorphisms was accurate based on wet genotyping of a sample. We found no supportive evidence that PLCXD3 variants are associated with disease.

conclusionThe marked discordance in vCJD genotype frequencies between studies, despite extensive overlap in vCJD cases, and the finding of Hardy-Weinberg disequilibrium in the original study, suggests possible reasons for the discrepancies between studies.

Indexed as

Polymorphism, Single NucleotideCreutzfeldt-Jakob SyndromeExonsGenetic LociGenome-Wide Association StudyGenotyping TechniquesGermanyHumansLinkage DisequilibriumPhosphoinositide Phospholipase CPrion ProteinsPrionsRisk FactorsUnited Statesphosphatidylinositol specific phospholipase C, humanPhosphoinositide Phospholipase CPrion ProteinsPrionsPRNP protein, humanCreutzfeldt-Jakob diseaseHuman prion diseasesPLCXD3

Identifiers

PMID27055460
PMCPMC4823897
OpenAlexW2324231126

What OpenQuestion holds

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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.