Genome-wide association study in Dachshund: identification of a major locus affecting intervertebral disc calcification.

Intervertebral disc herniation and calcification are degenerative spine issues which cause pain and discomfort and can lead to bigger issues such as pinched nerves.  Dachshunds are 10-12 times more likely to have herniation than any other breed, and the heritability can be between 0.47 – 0.87.

       In this study, the genome from 48 case studies (dogs with at least 6 disc calcifications) and 46 controls (dogs with 0 or 1 disc calcification) were observed. To find the number of calcifications for each dog, 5 radiographs of each dog were measured by one radiologist. Then, researchers located the gene for calcification using the PLINK method (a computer program for analyzing genes).

       The gene for calcification was isolated, thought to be 2 loci on chromosome (CFA) 12. There is a significant association between these loci and the disease, with a 98% certainty. The researchers also found that the gene is recessive, and that the greatest number of disc calcifications are found in wire-haired dachshunds. Using dachshunds to conduct this study made it much more straightforward to find the associated genome because the gene sequences within dog breeds (rather than humans) are relatively homogenous. The methods seen in this study could be a precursor both for more in-depth study of the mutation within Dachshunds that causes calcification or for a similar study on humans.

 

Mette Sloth Mogensen, Peter Karlskov-Mortensen, Helle Friis Proschowsky, Frode Lingaas, Anu Lappalainen, Hannes Lohi, Vibeke Frøkjær Jensen, Merete Fredholm, 2011. “Genome-Wide Association Study in Dachshund: Identification of a Major Locus Affecting Intervertebral Disc Calcification”. Journal of Heredity, Volume 102: Pages S81–S86,

https://doi.org/10.1093/jhered/esr021 

Reviewed by: Anna Day