Mausberg, Theresa-Bernadette; Wess, Gerhard; Simak, Julia; Keller, Lisa; Drögemüller, Michaela; Drögemüller, Cord; Webster, Matthew T.; Stephenson, Hannah; Dukes-McEwan, Joanna; Leeb, Tosso
A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers.
In: PLOS ONE
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.