Genome-wide association studies for multiple diseases of the German Shepherd Dog. Academic Article uri icon


  • The German Shepherd Dog (GSD) is a popular working and companion breed for which over 50 hereditary diseases have been documented. Herein, SNP profiles for 197 GSDs were generated using the Affymetrix v2 canine SNP array for a genome-wide association study to identify loci associated with four diseases: pituitary dwarfism, degenerative myelopathy (DM), congenital megaesophagus (ME), and pancreatic acinar atrophy (PAA). A locus on Chr 9 is strongly associated with pituitary dwarfism and is proximal to a plausible candidate gene, LHX3. Results for DM confirm a major locus encompassing SOD1, in which an associated point mutation was previously identified, but do not suggest modifier loci. Several SNPs on Chr 12 are associated with ME and a 4.7 Mb haplotype block is present in affected dogs. Analysis of additional ME cases for a SNP within the haplotype provides further support for this association. Results for PAA indicate more complex genetic underpinnings. Several regions on multiple chromosomes reach genome-wide significance. However, no major locus is apparent and only two associated haplotype blocks, on Chrs 7 and 12 are observed. These data suggest that PAA may be governed by multiple loci with small effects, or it may be a heterogeneous disorder.

published proceedings

  • Mamm Genome

altmetric score

  • 0.75

author list (cited authors)

  • Tsai, K. L., Noorai, R. E., Starr-Moss, A. N., Quignon, P., Rinz, C. J., Ostrander, E. A., ... Clark, L. A.

citation count

  • 20

complete list of authors

  • Tsai, Kate L||Noorai, Rooksana E||Starr-Moss, Alison N||Quignon, Pascale||Rinz, Caitlin J||Ostrander, Elaine A||Steiner, Jörg M||Murphy, Keith E||Clark, Leigh Anne

publication date

  • February 2012