Evidence map›Paper›PMID 28143391›Full record

ArticleBMC genetics2017

ADAM23 is a common risk gene for canine idiopathic epilepsy.

Lotta L E Koskinen, Eija H Seppälä, Jutta Weissl, Tarja S Jokinen, Ranno Viitmaa, Reetta L Hänninen, Pascale Quignon, Andrea Fischer, Catherine André, Hannes Lohi

Open access · diamondAbstract read
In one paragraph

Article in BMC genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 2 pooled it
1.0field-weighted citation impact, top 25% 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

16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 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

10 authors at 4 institutions in 3 countries.

Lotta L E KoskinenResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Eija H SeppäläResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Jutta WeisslCentre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München, Munich, Germany.
Tarja S JokinenDepartment of Clinical Veterinary Sciences, University of Helsinki, Helsinki, Finland.
Ranno ViitmaaDepartment of Clinical Veterinary Sciences, University of Helsinki, Helsinki, Finland.
Reetta L HänninenResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Pascale QuignonCNRS, UMR 6290, Institut de Génétique et Développement de Rennes, Rennes, France.
Andrea FischerCentre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München, Munich, Germany.
Catherine AndréCNRS, UMR 6290, Institut de Génétique et Développement de Rennes, Rennes, France.
Hannes LohiResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland. hannes.lohi@helsinki.fi.
University of Helsinki · FILudwig-Maximilians-Universität München · DEInstitut de génétique et de développement de Rennes · FRStructure Fédérative de Recherche en Biologie et Santé de Rennes · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIdiopathic or genetic adult-onset epilepsy is a common neurological disorder in domestic dogs. Genetic association has been reported only with ADAM23 on CFA 37 in few breeds. To identify novel epilepsy genes, we performed genome-wide association (GWA) analyses in four new breeds, and investigated the association of the previously reported ADAM23 haplotype with the epilepsy phenotype in eight breeds.

resultsGWA analysis did not reveal new epilepsy loci. ADAM23 association (p < 0.05) was identified in five breeds. Combined analysis of all eight breeds showed significant association (p = 4.6e

conclusionsOur results further support the role of ADAM23 in multiple breeds as a common risk gene for epilepsy with low penetrance. The lack of findings in the GWA analyses points towards inefficient capture of genetic variation by the current SNP arrays, causal variant(s) with low penetrance and possible phenocopies. Future work will include studies on ADAM23 function and expression in canine neurons, as well as whole-genome sequencing in order to identify additional IE genes.

Indexed as

ADAM ProteinsAnimalsDog DiseasesDogsEpilepsyGenetic Predisposition to DiseaseGenomicsHaplotypesPenetrancePhenotypeADAM ProteinsADAM23AssociationCanis familiarisDogEpilepsyGWAIdiopathic epilepsy

Identifiers

PMID28143391
PMCPMC5282852
OpenAlexW2580909007

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.