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A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data

Simpson, Siobhan; Edwards, Jennifer; Emes, Richard D.; Cobb, Malcolm A.; Mongan, Nigel P.; Rutland, Catrin S.

Authors

Siobhan Simpson

Jennifer Edwards

RICHARD EMES richard.emes@nottingham.ac.uk
Professor of Bioinformatics

MALCOLM COBB malcolm.cobb@nottingham.ac.uk
Professor of Comparative Veterinary Medicine



Abstract

Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundland breeds. Dilated cardiomyopathy is characterised by ventricular chamber enlargement and systolic dysfunction which often leads to congestive heart failure. Although multiple human loci have been implicated in the pathogenesis of dilated cardiomyopathy, the identified variants are typically associated with rare monogenic forms of dilated cardiomyopathy. The potential for multigenic interactions contributing to human dilated cardiomyopathy remains poorly understood. Consistent with this, several known human dilated cardiomyopathy loci have been excluded as common causes of canine dilated cardiomyopathy, although canine dilated cardiomyopathy resembles the human disease functionally. This suggests additional genetic factors contribute to the dilated cardiomyopathy phenotype. This study represents a meta-analysis of available canine dilated cardiomyopathy genetic datasets with the goal of determining potential multigenic interactions relating the sex chromosome genotype (XX vs. XY) with known dilated cardiomyopathy associated loci on chromosome 5 and the PDK4 gene in the incidence and progression of dilated cardiomyopathy. The results show an interaction between known canine dilated cardiomyopathy loci and an unknown X-linked locus. Our study is the first to test a multigenic contribution to dilated cardiomyopathy and suggest a genetic basis for the known sex-disparity in dilated cardiomyopathy outcomes.

Journal Article Type Article
Publication Date Mar 26, 2015
Journal PeerJ
Electronic ISSN 2167-8359
Publisher PeerJ
Peer Reviewed Peer Reviewed
Volume 3
Article Number e842
APA6 Citation Simpson, S., Edwards, J., Emes, R. D., Cobb, M. A., Mongan, N. P., & Rutland, C. S. (2015). A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data. PeerJ, 3, https://doi.org/10.7717/peerj.842
DOI https://doi.org/10.7717/peerj.842
Publisher URL http://dx.doi.org/10.7717/peerj.842
Copyright Statement Copyright information regarding this work can be found at the following address: http://creativecommons.org/licenses/by/4.0

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Copyright Statement
Copyright information regarding this work can be found at the following address: http://creativecommons.org/licenses/by/4.0





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