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      A Locus on Chromosome 5 Is Associated with Dilated Cardiomyopathy in Doberman Pinschers

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          Abstract

          Dilated cardiomyopathy (DCM) is a heterogeneous group of heart diseases with a strong genetic background. Currently, many human DCM cases exist where no causative mutation can be identified. DCM also occurs with high prevalence in several large dog breeds. In the Doberman Pinscher a specific DCM form characterized by arrhythmias and/or echocardiographic changes has been intensively studied by veterinary cardiologists. We performed a genome-wide association study in Doberman Pinschers. Using 71 cases and 70 controls collected in Germany we identified a genome-wide significant association to DCM on chromosome 5. We validated the association in an independent cohort collected in the United Kingdom. There is no known DCM candidate gene under the association signal. Therefore, DCM in Doberman Pinschers offers the chance of identifying a novel DCM gene that might also be relevant for human health.

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          Leader of the pack: gene mapping in dogs and other model organisms.

          Kerstin Lindblad-Toh, Henry Karlsson (2008)
          The domestic dog offers a unique opportunity to explore the genetic basis of disease, morphology and behaviour. We share many diseases with our canine companions, including cancer, diabetes and epilepsy, making the dog an ideal model organism for comparative disease genetics. Using newly developed resources, whole-genome association in dog breeds is proving to be exceptionally powerful. Here, we review the different trait-mapping strategies, some key biological findings emerging from recent studies and the implications for human health. We also discuss the development of similar resources for other vertebrate organisms.
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            Clinical and genetic issues in familial dilated cardiomyopathy.

            Ray Hershberger, L Burkett (2005)
            Idiopathic dilated cardiomyopathy (IDC) is characterized by left ventricular dilatation and systolic dysfunction after known causes have been excluded. Idiopathic dilated cardiomyopathy occurring in families, or familial dilated cardiomyopathy (FDC), may occur in 20% to 50% of IDC cases. Sixteen genes have been shown to cause autosomal dominant FDC, but collectively may account for only a fraction of genetic causation; it is anticipated that additional genes causative of FDC will be discovered. Familial dilated cardiomyopathy demonstrates incomplete penetrance, variable expression, and significant locus and allelic heterogeneity, making clinical and genetic diagnosis complex. Echocardiographic and electrocardiographic screening of first-degree relatives of individuals with IDC and FDC is indicated, as detection and treatment are possible before the onset of advanced symptomatic disease. Genetic counseling for IDC and FDC is also indicated to assist with family evaluations for genetic disease and with the uncertainty and anxiety surrounding the significance of clinical and genetic evaluation. Genetic testing is not yet commonly available, but its emergence will provide new opportunities for presymptomatic diagnosis.
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              Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.

              Helene Hansson-Hamlin, Danika L. Bannasch, E. Karlsson … (2010)
              The unique canine breed structure makes dogs an excellent model for studying genetic diseases. Within a dog breed, linkage disequilibrium is extensive, enabling genome-wide association (GWA) with only around 15,000 SNPs and fewer individuals than in human studies. Incidences of specific diseases are elevated in different breeds, indicating that a few genetic risk factors might have accumulated through drift or selective breeding. In this study, a GWA study with 81 affected dogs (cases) and 57 controls from the Nova Scotia duck tolling retriever breed identified five loci associated with a canine systemic lupus erythematosus (SLE)-related disease complex that includes both antinuclear antibody (ANA)-positive immune-mediated rheumatic disease (IMRD) and steroid-responsive meningitis-arteritis (SRMA). Fine mapping with twice as many dogs validated these loci. Our results indicate that the homogeneity of strong genetic risk factors within dog breeds allows multigenic disorders to be mapped with fewer than 100 cases and 100 controls, making dogs an excellent model in which to identify pathways involved in human complex diseases.
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                Author and article information

                Contributors
                : Role: Editor
                Journal
                Journal ID (nlm-ta): PLoS One
                Journal ID (publisher-id): plos
                Journal ID (pmc): plosone
                Title: PLoS ONE
                Publisher: Public Library of Science (San Francisco, USA )
                ISSN (Electronic): 1932-6203
                Publication date Collection: 2011
                Publication date (Electronic): 20 May 2011
                Volume: 6
                Issue: 5
                Electronic Location Identifier: e20042
                Affiliations
                [1 ]Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland
                [2 ]Clinic of Small Animal Medicine, LMU University, Munich, Germany
                [3 ]Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
                [4 ]Small Animal Teaching Hospital, University of Liverpool, Liverpool, United Kingdom
                Istituto Dermopatico dell'Immacolata, Italy
                Author notes

                Conceived and designed the experiments: GW JD-M TL. Performed the experiments: TM GW JS LK MD CD HS JD-M. Analyzed the data: TM GW MTW HS JD-M TL. Wrote the paper: TM GW TL.

                Article
                Publisher ID: PONE-D-11-03317
                DOI: 10.1371/journal.pone.0020042
                PMC ID: 3098859
                PubMed ID: 21625443
                SO-VID: d6b88973-0cc7-44d9-a995-cf960d0ce977
                Copyright © Mausberg et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
                History
                Date received : 16 February 2011
                Date accepted : 11 April 2011
                Page count
                Pages: 6
                Categories
                Subject: Research Article
                Subject: Biology
                Subject: Genetics
                Subject: Animal Genetics
                Subject: Genome-Wide Association Studies
                Subject: Medicine
                Subject: Cardiovascular
                Subject: Arrhythmias
                Subject: Cardiomyopathies
                Subject: Veterinary Science
                Subject: Veterinary Medicine
                Subject: Veterinary Cardiology

                ScienceOpen disciplines: Uncategorized
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                ScienceOpen disciplines: Uncategorized

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