{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T13:32:29Z","timestamp":1789047149312,"version":"build-2803163510"},"reference-count":44,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T00:00:00Z","timestamp":1741824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"A missense mutation in the titin gene (TTN<\/jats:italic>) and a splice-site mutation in the pyruvate dehydrogenase kinase 4 gene (PDK4<\/jats:italic>) have been associated with dilated cardiomyopathy (DCM) in Dobermanns from the United States. Additionally, a missense mutation in the gene RNF207<\/jats:italic> has been reported in association with DCM from a European Dobermann cohort. Based on this we examined the association of these variants with DCM in United Kingdom (UK) Dobermanns. We hypothesized that the TTN<\/jats:italic> and PDK4<\/jats:italic> gene variants would not be associated with DCM in UK Dobermanns and that there would be an association between the RNF207<\/jats:italic> mutation and DCM. We included 74 client owned dogs (30 control dogs and 44 dogs with DCM) in the study. Allele frequencies for each variant were calculated. Chi-square testing was used to assess for differences in allele frequencies and genotype proportions between groups. Overall allele frequency in this cohort was 35% for the TTN<\/jats:italic> variant, 18% for the PDK4<\/jats:italic> variant, and 37% for the RNF207<\/jats:italic> variant. There was no difference in allele or genotype frequencies between control and DCM dogs for TTN<\/jats:italic> or PDK4<\/jats:italic> (p =\u2009 0.79 for both allele frequencies, p =\u2009 0.91 for TTN<\/jats:italic> and p =\u2009 0.78 for PDK4<\/jats:italic> genotype frequencies). There was a significant difference in the allele frequencies of the RNF207<\/jats:italic> variant between DCM cases and controls (OR 2.4 (95% CI 1.07 \u2013 5.15), p =\u2009 0.03) and genotype frequencies for RNF207<\/jats:italic>, with a homozygous genotype found almost exclusively in DCM dogs (p =\u2009 0.034). We conclude that the previously reported RNF207<\/jats:italic> variant appears associated with DCM in UK Dobermanns, but there was no association with the previously reported TTN<\/jats:italic> or PDK4<\/jats:italic> mutations. This is important when considering selective breeding in different populations of Dobermanns. However, the small sample size may impact the generalizability of the results.<\/jats:p>","DOI":"10.1371\/journal.pone.0319932","type":"journal-article","created":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T17:24:47Z","timestamp":1741886687000},"page":"e0319932","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":1,"title":["Association of the TTN, PDK4, and RNF207 mutations with dilated cardiomyopathy in Dobermanns from the United Kingdom"],"prefix":"10.1371","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9118-0400","authenticated-orcid":true,"given":"Luke C.","family":"Dutton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Crosland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Dukes-McEwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Connolly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2025,3,13]]},"reference":[{"issue":"2","key":"pone.0319932.ref001","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1053\/tvjl.2001.0571","article-title":"Canine idiopathic dilated cardiomyopathy. 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