Evidence map›Paper›PMID 40043055›Full record

SynthesisPloS one2025

Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed.

Christopher A Jenkins, Luisa De Risio, Artitaya Lophatananon, Thomas W Lewis, Donna Foster, Jim Johnson, Hannes Lohi, Cathryn S Mellersh, Sally L Ricketts

Abstract readMeta-Analysis
In one paragraph

Synthesis in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Christopher A JenkinsDepartment of Veterinary Medicine, Canine Genetics Centre, University of Cambridge, Cambridge, United Kingdom (Formerly at the Animal Health Trust, Newmarket, Suffolk, United Kingdom).ORCID https://orcid.org/0000-0001-9082-4270
Luisa De RisioNeurology/Neurosurgery Service, Centre for Small Animal Studies, Animal Health Trust, Newmarket, Suffolk, United Kingdom.ORCID https://orcid.org/0000-0001-9005-4165
Artitaya LophatananonDivision of Population Health, Health Services Research & Primary Care, University of Manchester, Manchester, United Kingdom.
Thomas W LewisThe Kennel Club, London, United Kingdom.ORCID https://orcid.org/0000-0003-4166-7955
Donna FosterDepartment of Veterinary Medicine, Canine Genetics Centre, University of Cambridge, Cambridge, United Kingdom (Formerly at the Animal Health Trust, Newmarket, Suffolk, United Kingdom).
Jim JohnsonDepartment of Veterinary Medicine, Canine Genetics Centre, University of Cambridge, Cambridge, United Kingdom (Formerly at the Animal Health Trust, Newmarket, Suffolk, United Kingdom).ORCID https://orcid.org/0009-0004-8487-4705
Hannes LohiDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.ORCID https://orcid.org/0000-0003-1087-5532
Cathryn S MellershDepartment of Veterinary Medicine, Canine Genetics Centre, University of Cambridge, Cambridge, United Kingdom (Formerly at the Animal Health Trust, Newmarket, Suffolk, United Kingdom).
Sally L RickettsDepartment of Veterinary Medicine, Canine Genetics Centre, University of Cambridge, Cambridge, United Kingdom (Formerly at the Animal Health Trust, Newmarket, Suffolk, United Kingdom).ORCID https://orcid.org/0000-0002-5644-7958

Funding

Wellcome Trust
6 · The paper itself

Abstract

Idiopathic epilepsy (IE) has a high prevalence and a severe clinical course in the Italian Spinone breed of dog. A genome-wide association study meta-analysis of 52 cases and 51 controls was conducted to identify genomic regions that may be involved with the development of IE. Subsequent to the meta-analysis, a set of 175 controls and an independent validation set of 23 cases and 23 controls were genotyped for SNPs showing suggestive association with IE to find variants exhibiting evidence of replicable association and to test the predictiveness of SNPs for IE status when combined in a weighted risk score. Although two regions showed statistically significant association with IE in the GWAS meta-analysis, and additional regions with suggestive association were identified, the findings were not emulated in the validation set. This is the first GWAS of IE in the Italian Spinone, and the findings suggest that IE in the breed is not monogenic and demonstrates the challenges when investigating a multigenic or complex inherited disease in a numerically small domesticated animal population.

Indexed as

Dog DiseasesEpilepsyGenome-Wide Association StudyAnimalsBreedingCase-Control StudiesDogsGenetic Predisposition to DiseaseGenotypeItalyPolymorphism, Single Nucleotide

Identifiers

PMID40043055
PMCPMC11882058

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.