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Koskinen, Lotta L. E.; Seppälä, Eija H.; Weissl, Jutta; Jokinen, Tarja S.; Viitmaa, Ranno; Hänninen, Reetta L.; Quignon, Pascale; Fischer, Andrea; André, Catherine; Lohi, Hannes (2017): ADAM23 is a common risk gene for canine idiopathic epilepsy. In: BMC Genetics, Vol. 18, 8
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Abstract

Background: Idiopathic or genetic adult-onset epilepsy is a common neurological disorder in domestic dogs. Genetic association has been reported only with ADAM23 on CFA 37 in few breeds. To identify novel epilepsy genes, we performed genome-wide association (GWA) analyses in four new breeds, and investigated the association of the previously reported ADAM23 haplotype with the epilepsy phenotype in eight breeds. Results: GWA analysis did not reveal new epilepsy loci. ADAM23 association (p < 0.05) was identified in five breeds. Combined analysis of all eight breeds showed significant association (p = 4.6e(-6), OR 1.9). Conclusions: Our results further support the role of ADAM23 in multiple breeds as a common risk gene for epilepsy with low penetrance. The lack of findings in the GWA analyses points towards inefficient capture of genetic variation by the current SNP arrays, causal variant(s) with low penetrance and possible phenocopies. Future work will include studies on ADAM23 function and expression in canine neurons, as well as whole-genome sequencing in order to identify additional IE genes.