Atopic dermatitis (AD) is a chronic inflammatory skin disease triggered by allergic reactions, affecting both humans and dogs. There is a strong genetic predisposition, but development of atopic dermatitis is also influenced by environmental risk factors. We have identified a region on canine chromosome 27 as being associated with increased risk of developing canine atopic dermatitis (CAD) in German Shepherds. This region contains the gene PKP2 (plakophilin 2), encoding a desmosomal protein. Desmosomes are important to sustain a strong skin barrier.
Ongoing research includes genome-wide association studies of West Highland white terriers, boxers, Labrador retrievers, Golden retrievers and German shepherds to find further clues about the genetic risk factors for atopic dermatitis. We are continuously looking for more samples, so if you have a dog from any of these breeds affected by atopic dermatitis and would like to contribute to this research, please contact us for more information about how to submit a sample.
A German shepherd.
Ardesjö-Lundgren B, Tengvall K, Bergvall K, Farias FHG, Wang L, Hedhammar Å, Lindblad-Toh K, Andersson G. Comparison of cellular location and expression of Plakophilin-2 in epidermal cells from nonlesional atopic skin and healthy skin in German shepherd dogs. Vet Dermatol. 2017 Aug;28(4):377-e88. doi: 10.1111/vde.12441. Epub 2017 Apr 6. PMID: 28386956
Tengvall K, Kozyrev S, Kierczak M, Bergvall K, Farias FH, Ardesjö-Lundgren B, Olsson M, Murén E, Hagman R, Leeb T, Pielberg G, Hedhammar Å, Andersson G, Lindblad-Toh K. Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs. BMC Genet. 2016 Jun 29;17(1):97. doi: 10.1186/s12863-016-0404-3. PMID: 27357287
Tengvall K, Kierczak M, Bergvall K, Olsson M, Frankowiack M, Farias FH, Pielberg G, Carlborg Ö, Leeb T, Andersson G, Hammarström L, Hedhammar Å, Lindblad-Toh K. Genome-wide analysis in German shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis. PLoS Genet. 2013 May;9(5):e1003475. doi: 10.1371/journal.pgen.1003475. Epub 2013 May 9. Erratum in: PLoS Genet. 2013 May;9(5). doi:10.1371/annotation/fd6f4425-3d84-4017-a012-a5df6ddee13a. PLoS Genet. 2015 Dec;11(12):e1005740. PMID: 23671420