1413: Investigation into the Genetics of Scottie Cramp: a Genome-Wide Association Study

Grant Amount: $45,320.62

Natasha J Olby, VetMB PhD; North Carolina State University

January 1, 2011 - March 31, 2012

Sponsor(s): Airedale Terrier Club of America, American Belgian Tervuren Club, Inc., English Springer Spaniel Field Trial Association, Flat-Coated Retriever Foundation, German Shorthaired Pointer Club of America, German Wirehaired Pointer Club of America, Golden Retriever Foundation, Keeshond Anonymous Fund, Old English Sheepdog Club of America, Samoyed Club of America Education & Research Foundation, Standard Schnauzer Club of America, United States Australian Shepherd Foundation

Breed(s): Cavalier King Charles Spaniel, Cairn Terrier, Scottish Terrier

Research Program Area: Neurology

Project Summary

Over the last year, we have genotyped a total of 31 dogs affected with Scottie Cramp (29 Scottish Terriers and 2 Cairn Terriers), 79 normal dogs (77 Scottish Terriers and 2 Cairn Terriers) and 10 dogs of unknown status (all Scottish Terriers). This exceeds the number of dogs proposed in the grants because we were able to use data from dogs genotyped as a part of the study looking at the genetics of Cerebellar Degeneration in Scottish Terriers (also funded by AKC CHF). When we analyzed data from Scottish Terriers exclusively, we were unable to identify any significant associations with Scottie Cramp. However, when we included data from the Cairn Terriers, we identified one small region with a significant association. There were a number of reasons why were we somewhat suspicious that this finding was spurious, and we therefore completed some additional analyses of the data to try to correct for the effect of population stratification. These analyses were not able to achieve this correction and we are continuing to work with different types of analysis. The region we identified contains one gene that we will sequence in our ongoing work on Scottie Cramp. We would welcome additional blood samples from dogs affected with Scottie Cramp and will of course keep any information on these dogs confidential. On our ongoing work on this disorder, we plan to sequence the gene identified in this work, to sequence known candidate genes for similar diseases in humans, and to consider additional sequence capture of mRNA or of any region we define with our ongoing work on the GWAS datasets. We are grateful to the Scottish Terrier Club of America and the STCA Health Trust Fund for their continued support of our work.

Publication(s)

None at this time.