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Peer-reviewed veterinary case report

Gene on chromosome 5 linked to heart disease in Doberman Pinschers

By Mausberg, Theresa-Bernadette et al.·Published in PloS one·2011·Institute of Genetics·View original on PubMed

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Original publication title: A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.

Species:
dog

Plain-English summary

A group of Doberman Pinschers with dilated cardiomyopathy (DCM), a serious heart condition, was studied to find genetic links to the disease. Researchers discovered a significant association on chromosome 5 that may help identify a new gene related to DCM. This condition can cause heart arrhythmias and other serious heart issues in dogs. Understanding this genetic connection could lead to better treatments for both dogs and humans suffering from similar heart problems.

People also search for: Doberman Pinscher heart disease · dilated cardiomyopathy in dogs · dog heart arrhythmia treatment

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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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/21625443/