April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Genetic Background of Hereditary Eye Diseases in Dogs: Identification of Novel Loci for Cataract, Glaucoma and Progressive Retinopathy
Author Affiliations & Notes
  • Saija J. Ahonen
    Molecular Medicine, University of Helsinki, Helsinki, Finland
  • Sally Ricketts
    Centre for Preventive Medicine, Animal Health Trust, Newmarket, United Kingdom
  • Liz Hansen
    Department of Veterinary Pathobiology, University of Missouri, Missouri, Missouri
  • Gary Jonhson
    Department of Veterinary Pathobiology, University of Missouri, Missouri, Missouri
  • Eija Seppala
    Molecular Medicine, University of Helsinki, Helsinki, Finland
  • Andras M. Komaromy
    Clinical Studies, Univ of Pennsylvania, Sch of Vet Med, Philadelphia, Pennsylvania
  • Cathryn Mellersh
    Centre for Preventive Medicine, Animal Health Trust, Newmarket, United Kingdom
  • Hannes Lohi
    Molecular Medicine, University of Helsinki, Helsinki, Finland
  • Footnotes
    Commercial Relationships  Saija J. Ahonen, None; Sally Ricketts, None; Liz Hansen, None; Gary Jonhson, None; Eija Seppala, None; Andras M. Komaromy, None; Cathryn Mellersh, None; Hannes Lohi, None
  • Footnotes
    Support  The Sigrid Juselius Foundation, Academy of Finland, The Jane and Aatos Erkko Foundation, Dandie Dinmont Trust, Canine Health Foundation, University of Helsinki Research Funds, Nissi Foundation.
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5882. doi:
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      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.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : 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.

Methods: : 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.

Results: : 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).

Conclusions: : 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.

Keywords: gene mapping • genetics • gene microarray 
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