A 16-bp deletion in the canine PDK4 gene is not associated with dilated cardiomyopathy in a European cohort of Doberman Pinschers.

Source/description: Following a genome-wide association study (GWAS), a 16-bp deletion in the 5′ splice site of intron 10 of the pyruvate dehydrogenase kinase, isozyme 4 (PDK4) gene on CFA 14 has been reported to be associated with dilated cardiomyopathy (DCM) in Doberman Pinschers. This PDK4 variant was further reported to be absent from 100 dogs of other breeds. We have previously performed a GWAS in a European cohort of Doberman Pinschers and found a significant genome-wide association for DCM on CFA 5, but not on CFA 14. The objective of this study was to evaluate the association of the PDK4 variant on CFA 14 in our cohort of Doberman Pinschers.