Evidence map›Paper›PMID 39890868›Full record

ArticleScientific reports2025

Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing.

Jade Raffle, Jose Novo Matos, Marsha Wallace, Lois Wilkie, Richard J Piercy, Perry Elliott, David J Connolly, Virginia Luis Fuentes, Androniki Psifidi

Abstract read
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Genetic Basis of Hypertrophic Cardiomyopathy in Cats.Current issues in molecular biology · 2024
    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

9 authors.

Jade RaffleClinical Science and Services, Royal Veterinary College, London, UK. jraffle@rvc.ac.uk.
Jose Novo MatosClinical Science and Services, Royal Veterinary College, London, UK.
Marsha WallaceClinical Science and Services, Royal Veterinary College, London, UK.
Lois WilkieClinical Science and Services, Royal Veterinary College, London, UK.
Richard J PiercyClinical Science and Services, Royal Veterinary College, London, UK.
Perry ElliottInstitute of Cardiovascular Science, University College London, London, UK.
David J ConnollyClinical Science and Services, Royal Veterinary College, London, UK.
Virginia Luis FuentesClinical Science and Services, Royal Veterinary College, London, UK.
Androniki PsifidiClinical Science and Services, Royal Veterinary College, London, UK. apsifidi@rvc.ac.uk.

Funding

Biotechnology and Biological Sciences Research Council 1903448Petplan Charitable Trust S18-693-731
6 · The paper itself

Abstract

Cardiomyopathies are the most common heritable heart diseases in cats and humans. This study aimed to identify novel genetic variants in cats with hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) using a targeted panel of genes associated with human cardiomyopathy. Cats were phenotyped for HCM/RCM by echocardiography ± necropsy. DNA was extracted from residual blood, and targeted next-generation sequencing was performed on two separate feline cohorts: an across-breed cohort (23 healthy cats and 21 HCM-affected pedigree or Domestic Shorthair cats), and a within-breed cohort of Birman pedigree cats (14 healthy, 8 HCM-affected, and 6 RCM-affected). Genome Analysis Toolkit was used for variant discovery. Genomic association analyses, including the covariates breed, age, and sex, were conducted to identify genetic variants of interest. We identified genetic variants associated with both HCM and RCM susceptibility in the sarcomeric genes ACTC1, ACTN2, MYH7, TNNT2 and the non-sarcomeric gene CSRP3 in the Birman pedigree cats. These findings suggest that, as proposed in humans, there is at least partial overlap in the genetic background between the HCM and RCM phenotypes in cats. These findings offer potential insights for comparative cardiac research and translational medicine.

Indexed as

CardiomyopathiesCardiomyopathy, HypertrophicCardiomyopathy, RestrictiveCat DiseasesGenetic VariationHigh-Throughput Nucleotide SequencingAnimalsCatsFemaleGenetic Predisposition to DiseaseMalePedigreePhenotype

Identifiers

PMID39890868
PMCPMC11785968

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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.