748: SNP Association Mapping for Canine Epilepsy

Grant Status: Closed

Grant Amount: $235,872
Dr. Ned E. Patterson, DVM PhD, University of Minnesota
April 1, 2007 - March 31, 2011
Sponsor(s): Akita Club of America, Inc., Flat-Coated Retriever Foundation, Golden Retriever Foundation, Great Pyrenees Club of America, Leonberger Health Foundation, Rottweiler Health Foundation, Saluki Health Research, Inc., Starlight Fund
Breed(s): Australian Shepherd, English Springer Spaniel
Research Program Area: Prevention

Project Summary

English Springer Spaniels: The investigators now have over 900 samples from English Springer Spaniels with 91 dogs with recurrent seizures with no known other cause. Their previous pedigree and segregation analysis indicated that idiopathic epilepsy in this breed was most likely not a simple Mendelian (one gene fully penetrant) trait and that the pedigrees available were of marginal power to detect a genetic marker, so they did not attempt a genetic linkage analysis. Rather, they concentrated on selecting a sample set that is most appropriate for a genetic association study with single nucleotide polymorphism (SNP) markers. To date, they have run affected and unaffected ESS for genome wide marker analysis with the two different level density SNP chip. The results continue to provide weak associations that are not new significant hits in the analysis with the latest and most powerful SNP chips. Additional traditional SNP marker studies are unlikely to provide more information until the investigators have a much larger number of epileptic ESS samples. It is apparent that IE is polygenic in many breeds. In Dr. Hannes Lohi's recent presentation to the American Epilepsy Society in Boston (for which Dr. Patterson was a co-author) regarding more than 15 breeds it is clear that are a limited number of breeds where one gene may cause epilepsy, but in most breeds the genetic predisposition is influenced by more that one gene which is very likely to be the case for ESS. Australian Shepherds: There has been a significant breakthrough in our Australian Shepherd epilepsy research! The SNP (genetic marker) analysis has indicated an area on one chromosome that appears very likely to contain a significant epilepsy gene. Future studies will build on this research to further examine this area, and try to find a gene causing or contributing to AS epilepsy.

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