Purchase this article with an account.
Saija J. Ahonen, Sally Ricketts, Liz Hansen, Gary Jonhson, Eija Seppala, Andras M. Komaromy, Cathryn Mellersh, Hannes Lohi; Genetic Background of Hereditary Eye Diseases in Dogs: Identification of Novel Loci for Cataract, Glaucoma and Progressive Retinopathy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5882.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Dogs suffer from the same hereditary eye diseases as humans including cataract, glaucoma and retinal degenerations. These disorders affect the dog’s vision and may lead to complete blindness. Several mutations have been described in dogs but still some of them have an unknown genetic background. Three different vision disorders in different breeds have been targeted in this research to map the disease causing mutations.
We have established a large sample cohort for late-onset glaucoma in Dandie Dinmont Terriers (DDT), posterior polar subcapsular cataract in Siperian Husky, Alaskan Malamute and Samoyed and progressive retinopathy in Swedish Vallhunds (SV). We performed a genome-wide association study (GWAS) with canine SNP arrays to map the loci in each disorder. Additional markers and samples were selected to replicate and finemap the associated regions.
Our GWAS identified a single 10 Mb locus on CFA8 for DDT glaucoma (Praw=1.6*10-7, Pgenome =0.00116) which was further fine-mapped in a larger sample set to a 2 Mb haplotype with p-value of 1.63*10-10. The retinal degeneration mapped to CFA17 (Praw=0.00012, Pgenome =0.27) in SV with a validating replication (P=3.13*10-7). Meta-analysis of the cataract in three breeds supported a shared locus in one of the canine chromosomes (Praw=4.6 x 10-7, Pgenome =0.01).
We have mapped three loci for three different canine eye disorders. Ongoing re-sequencing of the associated loci is likely reveal the disease-causing mutations and will open important new insights to the molecular pathogenesis of these conditions in dogs. While the identification of the mutations will establish model for vision disorders and enable genetic testing in the breeds, the new genes will also become candidates for the corresponding human eye disorders.
This PDF is available to Subscribers Only