ADAM23 is a common risk gene for canine idiopathic epilepsy

BMC Genetics

Research Article

Pascale Quignon¹  Catherine André¹  Jutta Weissl²  Andrea Fischer²  Tarja S. Jokinen³  Ranno Viitmaa³  Eija H. Seppälä⁴  Lotta L. E. Koskinen⁴  Reetta L. Hänninen⁴  Hannes Lohi⁴ 

[1] CNRS, UMR 6290, Institut de Génétique et Développement de Rennes, Rennes, France;Université Rennes 1, UEB, Biosit, Faculté de Médecine, Rennes, France;Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität München, Munich, Germany;Department of Clinical Veterinary Sciences, University of Helsinki, Helsinki, Finland;Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland;Department of Veterinary Biosciences and Department of Medical Genetics, University of Helsinki, Helsinki, Finland;Folkhälsan Institute of Genetics, Helsinki, Finland;

关键词: Dog;    Canis familiaris;    Epilepsy;    Idiopathic epilepsy;    ADAM23;    GWA;    Association;   

DOI  :  10.1186/s12863-017-0478-6

 received in 2016-01-13, accepted in 2017-01-27,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundIdiopathic 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.ResultsGWA 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).ConclusionsOur 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.

【 授权许可】

CC BY   
© The Author(s). 2017