A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.

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 for...

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Autores principales: Theresa-Bernadette Mausberg, Gerhard Wess, Julia Simak, Lisa Keller, Michaela Drögemüller, Cord Drögemüller, Matthew T Webster, Hannah Stephenson, Joanna Dukes-McEwan, Tosso Leeb
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Publicado: Public Library of Science (PLoS) 2011
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Acceso en línea:https://doaj.org/article/b7a16ddfb46a46419993ce579dfb8471
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spelling oai:doaj.org-article:b7a16ddfb46a46419993ce579dfb84712021-11-18T06:53:37ZA locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.1932-620310.1371/journal.pone.0020042https://doaj.org/article/b7a16ddfb46a46419993ce579dfb84712011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21625443/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Dilated 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.Theresa-Bernadette MausbergGerhard WessJulia SimakLisa KellerMichaela DrögemüllerCord DrögemüllerMatthew T WebsterHannah StephensonJoanna Dukes-McEwanTosso LeebPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 5, p e20042 (2011)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Theresa-Bernadette Mausberg
Gerhard Wess
Julia Simak
Lisa Keller
Michaela Drögemüller
Cord Drögemüller
Matthew T Webster
Hannah Stephenson
Joanna Dukes-McEwan
Tosso Leeb
A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.
description 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.
format article
author Theresa-Bernadette Mausberg
Gerhard Wess
Julia Simak
Lisa Keller
Michaela Drögemüller
Cord Drögemüller
Matthew T Webster
Hannah Stephenson
Joanna Dukes-McEwan
Tosso Leeb
author_facet Theresa-Bernadette Mausberg
Gerhard Wess
Julia Simak
Lisa Keller
Michaela Drögemüller
Cord Drögemüller
Matthew T Webster
Hannah Stephenson
Joanna Dukes-McEwan
Tosso Leeb
author_sort Theresa-Bernadette Mausberg
title A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.
title_short A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.
title_full A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.
title_fullStr A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.
title_full_unstemmed A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.
title_sort locus on chromosome 5 is associated with dilated cardiomyopathy in doberman pinschers.
publisher Public Library of Science (PLoS)
publishDate 2011
url https://doaj.org/article/b7a16ddfb46a46419993ce579dfb8471
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