Evidence map›Paper›PMID 37723491›Full record

ArticleGenome medicine2023

Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.

Julia E Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F Ernst, Dennis Dooijes, Hanneke W M van Deutekom, J Peter van Tintelen, Christian J B Snijders Blok, Marion van Vugt and 22 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

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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

32 authors.

Julia E NiskanenDepartment of Medical and Clinical Genetics, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
Åsa OhlssonDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Ingrid LjungvallDepartment of Clinical Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Michaela DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3001, Switzerland.
Robert F ErnstDepartment of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
Dennis DooijesDepartment of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
Hanneke W M van DeutekomDepartment of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
J Peter van TintelenDepartment of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
Christian J B Snijders BlokDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
Marion van VugtDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
Jessica van SettenDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
Folkert W AsselbergsAmsterdam University Medical Centers, Department of Cardiology, University of Amsterdam, Amsterdam, The Netherlands.
Aleksandra Domanjko PetričSmall Animal Clinic, Veterinary Faculty, University of Ljubljana, Ljubljana, 1000, Slovenia.
Milla SalonenDepartment of Medical and Clinical Genetics, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
Sruthi HundiDepartment of Medical and Clinical Genetics, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
Matthias HörtenhuberDepartment of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
DoGA consortium
Juha KereFolkhälsan Research Center, Haartmaninkatu 8, P.O.Box 63, 00290, Helsinki, Finland.
W Glen PyleDepartment of Biomedical Sciences, University of Guelph, Guelph, ON, Canada.
Jonas DonnerWisdom Panel Research Team, Wisdom Panel, Kinship, Helsinki, Finland.
Alex V PostmaDepartment of Human Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Tosso LeebInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3001, Switzerland.
Göran AnderssonDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Marjo K HytönenDepartment of Medical and Clinical Genetics, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
Jens HäggströmDepartment of Clinical Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Maria WibergDepartment of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland.
Jana FriederichLMU Small Animal Clinic, Ludwig Maximilians University of Munich, Munich, Germany.
Jenny EberhardLMU Small Animal Clinic, Ludwig Maximilians University of Munich, Munich, Germany.
Magdalena Harakalova *Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
Frank G van Steenbeek *Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
Gerhard Wess *LMU Small Animal Clinic, Ludwig Maximilians University of Munich, Munich, Germany.
Hannes Lohi *Department of Medical and Clinical Genetics, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland. hannes.lohi@helsinki.fi.ORCID http://orcid.org/0000-0003-1087-5532

Funding

Department of Health
6 · The paper itself

Abstract

backgroundDilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiology; however, as a complex disease, the exact genetic risk factors are largely unknown, and many patients remain without a molecular diagnosis.

methodsWe performed GWAS followed by whole-genome, transcriptome, and immunohistochemical analyses in a spontaneously occurring canine model of DCM. Canine gene discovery was followed up in three human DCM cohorts.

resultsOur results revealed two independent additive loci associated with the typical DCM phenotype comprising left ventricular systolic dysfunction and dilatation. We highlight two novel candidate genes, RNF207 and PRKAA2, known for their involvement in cardiac action potentials, energy homeostasis, and morphology. We further illustrate the distinct genetic etiologies underlying the typical DCM phenotype and ventricular premature contractions. Finally, we followed up on the canine discoveries in human DCM patients and discovered candidate variants in our two novel genes.

conclusionsCollectively, our study yields insight into the molecular pathophysiology of DCM and provides a large animal model for preclinical studies.

Indexed as

Cardiomyopathy, DilatedAnimalsDogsHomeostasisHumansModels, AnimalPhenotypeRisk FactorsArrhythmiaCardiacCardiologyCompanion animalComplex traitGeneticsGWASTranscriptomics

Identifiers

PMID37723491
PMCPMC10506233

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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.