{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T09:42:14Z","timestamp":1792662134183,"version":"4.5.0"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Previous studies suggest that genetic risk factors for dilated cardiomyopathy (DCM) in Dobermann dogs may differ between populations, complicating the use of genetic tests across subpopulations. Variants in pyruvate dehydrogenase kinase 4 (\n                    <jats:italic>PDK4<\/jats:italic>\n                    ) and titin (\n                    <jats:italic>TTN<\/jats:italic>\n                    ) have been associated with DCM in North American Dobermanns, whereas two loci on chromosome 5 involving Protein Kinase AMP\u2010Activated Catalytic Subunit Alpha 2 (\n                    <jats:italic>PRKAA2<\/jats:italic>\n                    ) and Ring Finger Protein 207 (\n                    <jats:italic>RNF207<\/jats:italic>\n                    ) have been implicated in European populations. To assess the consistency of these signals across populations of Dobermanns, we harmonized and imputed genotype data from a Discovery cohort (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009444) and a Replication cohort (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20091771), and supplemented these with allele frequency data from a large diversity cohort (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20093226) for cross\u2010platform analyses. We detected a shared association signal near\n                    <jats:italic>RNF207<\/jats:italic>\n                    in affected dogs in both Europe and North America. In contrast, SNPs located in and near\n                    <jats:italic>PDK4<\/jats:italic>\n                    and\n                    <jats:italic>TTN<\/jats:italic>\n                    variants showed no association with DCM in either population. These findings indicate that the\n                    <jats:italic>RNF207<\/jats:italic>\n                    variant represents a shared genetic risk factor for DCM in Dobermanns across populations, and support the dog, particularly the Dobermann, as a relevant spontaneous model for RNF207\u2010driven DCM. The previously reported associations between\n                    <jats:italic>PDK4<\/jats:italic>\n                    and\n                    <jats:italic>TTN<\/jats:italic>\n                    variants and DCM were not replicated in the North American Dobermann population, nor in the European Dobermann populations. Also, these results highlight the need for population\u2010specific validation and functional validation of identified variants where possible, before implementation of variants in genetic testing strategies.\n                  <\/jats:p>","DOI":"10.1002\/age.70206","type":"journal-article","created":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T03:06:51Z","timestamp":1789009611000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Large\u2010Scale Cross\u2010Population Evaluation of Genetic Risk Variants for Dilated Cardiomyopathy in Dobermanns"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3640-5224","authenticated-orcid":false,"given":"Alma H.","family":"Hulsman","sequence":"first","affiliation":[{"name":"Expertise Centre for Veterinary Genetics, Department Clinical Sciences, Faculty of Veterinary Medicine Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwen","family":"Flokstra","sequence":"additional","affiliation":[{"name":"Expertise Centre for Veterinary Genetics, Department Clinical Sciences, Faculty of Veterinary Medicine Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Kijan","sequence":"additional","affiliation":[{"name":"Expertise Centre for Veterinary Genetics, Department Clinical Sciences, Faculty of Veterinary Medicine Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-9154-2686","authenticated-orcid":false,"given":"Marilijn","family":"van Rumpt","sequence":"additional","affiliation":[{"name":"Expertise Centre for Veterinary Genetics, Department Clinical Sciences, Faculty of Veterinary Medicine Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2646-9216","authenticated-orcid":false,"given":"Johannes C. M.","family":"Vernooij","sequence":"additional","affiliation":[{"name":"Department Population Health Sciences, Faculty of Veterinary Medicine Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas C.","family":"Nelson","sequence":"additional","affiliation":[{"name":"Embark Veterinary, Inc.  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Liu","sequence":"additional","affiliation":[{"name":"Doberman Diversity Project  Oakland California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1298-9620","authenticated-orcid":false,"given":"Lieke","family":"Vree","sequence":"additional","affiliation":[{"name":"Expertise Centre for Veterinary Genetics, Department Clinical Sciences, Faculty of Veterinary Medicine Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7293-1029","authenticated-orcid":false,"given":"Magdalena","family":"Harakalova","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Division Heart &amp; Lungs University Medical Center Utrecht (UMCU)  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6617-0454","authenticated-orcid":false,"given":"Ingrid","family":"Ljungvall","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences Swedish University of Agricultural Sciences  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3402-023X","authenticated-orcid":false,"given":"Jens","family":"Haggstrom","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences Swedish University of Agricultural Sciences  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6634-8072","authenticated-orcid":false,"given":"Gerhard","family":"Wess","sequence":"additional","affiliation":[{"name":"LMU Small Animal Clinic, Ludwig Maximilians University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0562-6964","authenticated-orcid":false,"given":"Hille","family":"Fieten","sequence":"additional","affiliation":[{"name":"Expertise Centre for Veterinary Genetics, Department Clinical Sciences, Faculty of Veterinary Medicine Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1976-5874","authenticated-orcid":false,"given":"Marjo K.","family":"Hyt\u00f6nen","sequence":"additional","affiliation":[{"name":"Department of Veterinary Biosciences, Faculty of Veterinary Medicine University of Helsinki  Helsinki Finland"},{"name":"Department of Clinical and Medical Genetics, Faculty of Medicine University of Helsinki  Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1087-5532","authenticated-orcid":false,"given":"Hannes","family":"Lohi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Biosciences, Faculty of Veterinary Medicine University of Helsinki  Helsinki Finland"},{"name":"Department of Clinical and Medical Genetics, Faculty of Medicine University of Helsinki  Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5460-6540","authenticated-orcid":false,"given":"Frank G.","family":"van Steenbeek","sequence":"additional","affiliation":[{"name":"Expertise Centre for Veterinary Genetics, Department Clinical Sciences, Faculty of Veterinary Medicine Utrecht University  Utrecht the Netherlands"},{"name":"Department of Cardiology, Division Heart &amp; 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