Evidence map›Paper›PMID 42708524›Full record

ArticleAnimal genetics2026

A Combination of Alleles in LMOD2 and a lncRNA is Strongly Associated With Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels.

Lisbeth Høier Olsen, Arney Eva Gunnlaugsdóttir, Majbritt Busk Madsen, Isabella Jane Larsen, Maria Josefine Ubbe Reimann, Foteini Papadaki, Ingrid Ljungvall, Jens Häggström, Torben Martinussen, Henrik Duelund Pedersen and 3 more

Abstract read
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In one paragraph

Article in Animal genetics, 2026. 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

13 authors.

Lisbeth Høier OlsenDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.ORCID https://orcid.org/0000-0002-0292-3111
Arney Eva GunnlaugsdóttirDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.
Majbritt Busk MadsenDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.ORCID https://orcid.org/0000-0003-2123-8483
Isabella Jane LarsenDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.
Maria Josefine Ubbe ReimannDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.
Foteini PapadakiDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.ORCID https://orcid.org/0009-0003-8188-7765
Ingrid LjungvallDepartment of Clinical Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden.ORCID https://orcid.org/0000-0002-6617-0454
Jens HäggströmDepartment of Clinical Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden.ORCID https://orcid.org/0000-0003-3402-023X
Torben MartinussenDepartment of Public Health, University of Copenhagen, Copenhagen K, Denmark.ORCID https://orcid.org/0000-0002-9760-6791
Henrik Duelund PedersenDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.ORCID https://orcid.org/0000-0003-0687-5134
Torkel FalkDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.
Merete FredholmDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.
Peter Karlskov-MortensenDepartment of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark.ORCID https://orcid.org/0000-0002-2491-2763

Funding

Agria Djurförsäkring N2014-0018Agria Djurförsäkring N2019-0015Danmarks Frie Forskningsfond 7017-00131B
6 · The paper itself

Abstract

A previous genome-wide association study identified regions on canine chromosome (cfa) 13 and 14 associated with early onset myxomatous mitral valve disease (MMVD) in Cavalier King Charles Spaniels (CKCS). In the present study, whole genome sequencing (WGS) of 9 CKCS cases (mitral regurgitation (MR) before 4.5 years or congestive heart failure (CHF) at any age due to MMVD) and 10 CKCS controls (no or mild MR after 8 years of age) identified > 2000 genetic variants in the MMVD associated cfa13 and cfa14 regions. Ensembl Variant Effect Predictor (VEP) identified a possible functional impact of 18 variants. These were genotyped in 250 CKCS; 117 cases and 133 controls. The most significantly associated variants were a splice-site variant in a long noncoding RNA (lncRNA) on cfa13, a nonsynonymous variant in HYAL4, a 39 base-pair insertion in LMOD2 and a synonymous variant in ENSCAFG00000024436 (p-values from 2.03E-08 to 4.20E-06). Concomitant homozygosity for risk alleles in LMOD2 and the lncRNA gave an odds-ratio for MMVD of 52.5 compared to homozygosity for the nonrisk alleles (p = 0.00034, 95% CI: 8.8-1023.8). Upon validation of our results in an independent cohort, this gene variant combination in CKCS is expected to enable targeted breeding programs to reduce MMVD prevalence in CKCS.

Indexed as

Dog DiseasesMitral Valve InsufficiencyMitral Valve ProlapseRNA, Long NoncodingAllelesAnimalsDogsFemaleGenetic Predisposition to DiseaseMaleRNA, Long Noncodingdog heart diseaseHYAL4leiomodin 2lncRNAmitral regurgitationmitral valve prolapse

Identifiers

PMID42708524
PMCPMC13552192

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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.