Evidence map›Paper›PMID 23323744›Full record

ArticleJournal of veterinary internal medicine

Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy.

M Longeri, P Ferrari, P Knafelz, A Mezzelani, A Marabotti, L Milanesi, G Pertica, M Polli, P G Brambilla, M Kittleson and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Journal of veterinary internal medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
6.1field-weighted citation impact, top 4% 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

38 citing papers in PubMed, 66 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Genetic Basis of Hypertrophic Cardiomyopathy in Cats.Current issues in molecular biology · 2024
    Review
  10. Article
  11. Article
  12. Article
  13. The Role of Personalized Medicine in Companion Animal Cardiology.The Veterinary clinics of North America. Small animal practice · 2023
    Review
  14. Article
  15. Article
  16. Endothelial cell dysfunction in cardiac disease: driver or consequence?Frontiers in cell and developmental biology · 2023
    Review
  17. Article
  18. Article
  19. A Nonsense Variant in theAnimals : an open access journal from MDPI · 2022
    Article
  20. 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

12 authors at 4 institutions in 2 countries.

M LongeriDip. Scienze Veterinarie e Sanità Pubblica, University of Milan, Milan, Italy. maria.longeri@unimi.it
P Ferrari
P Knafelz
A Mezzelani
A Marabotti
L Milanesi
G Pertica
M Polli
P G Brambilla
M Kittleson
L A Lyons
F Porciello
University of Milan · ITInstitute of Biomedical Technologies · ITUniversity of Perugia · ITUniversity of California, Davis · US

Funding

Genetic Mapping Resources for Common Mammalian DiseasesR24RR016094 · NCRR · UNIVERSITY OF CALIFORNIA DAVIS · PI LYONS, LESLIE A · 2002 to 2011
$3.0M
Genetic Mapping Resources for Common Mammalian DiseasesR24OD010928 · OD · UNIVERSITY OF MISSOURI-COLUMBIA · PI LYONS, LESLIE A · 2012 to 2015
$911k
NCRR NIH HHS R24 RR016094NIH HHS R24 OD010928NIH HHS R24OD010928
6 · The paper itself

Abstract

backgroundTwo mutations in the MYBPC3 gene have been identified in Maine Coon (MCO) and Ragdoll (RD) cats with hypertrophic cardiomyopathy (HCM).

objectiveThis study examined the frequency of these mutations and of the A74T polymorphism to describe their worldwide distribution and correlation with echocardiography. ANIMALS: 1855 cats representing 28 breeds and random-bred cats worldwide, of which 446 underwent echocardiographic examination.

methodsThis is a prospective cross-sectional study. Polymorphisms were genotyped by Illumina VeraCode GoldenGate or by direct sequencing. The disease status was defined by echocardiography according to established guidelines. Odds ratios for the joint probability of having HCM and the alleles were calculated by meta-analysis. Functional analysis was simulated.

resultsThe MYBPC3 A31P and R820W were restricted to MCO and RD, respectively. Both purebred and random-bred cats had HCM and the incidence increased with age. The A74T polymorphism was not associated with any phenotype. HCM was most prevalent in MCO homozygote for the A31P mutation and the penetrance increased with age. The penetrance of the heterozygote genotype was lower (0.08) compared with the P/P genotype (0.58) in MCO. CONCLUSIONS AND CLINICAL IMPORTANCE: A31P mutation occurs frequently in MCO cats. The high incidence of HCM in homozygotes for the mutation supports the causal nature of the A31P mutation. Penetrance is incomplete for heterozygotes at A31P locus, at least at a young age. The A74T variant does not appear to be correlated with HCM.

Indexed as

AllelesAnimalsCardiomyopathy, HypertrophicCarrier ProteinsCat DiseasesCatsCross-Sectional StudiesDNAEchocardiographyFemaleGenetic Predisposition to DiseaseGenetic VariationGenotypeMaleMyosin Binding Protein COdds RatioCarrier ProteinsDNAMyosin Binding Protein C

Identifiers

PMID23323744
PMCPMC3602388
OpenAlexW2167797315

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.