September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Identification of two Single Nucleotide Polymorphisms in SRBD1 Gene Associated to Glaucoma in several Dog Breeds.
Author Affiliations & Notes
  • Pierre François Isard
    Ophthalmology, CHVSM, Saint-Martin Bellevue, France
  • Kissaou Tchapou Tchedre
    Diagnositic, Menicon Co Ltd, Geneve, Switzerland
  • Valerie Tsobnang
    Diagnositic, Menicon Co Ltd, Geneve, Switzerland
  • Marielle Mentek
    Ophthalmology, CHVSM, Saint-Martin Bellevue, France
  • Thomas Dulaurent
    Ophthalmology, CHVSM, Saint-Martin Bellevue, France
  • Pascale Quignon
    Genetique, CNRS/Rennes 1 University, Rennes, France
  • Tetsushi Omori
    Diagnositic, Menicon Co Ltd, Geneve, Switzerland
  • Mouad Lamrani
    Diagnositic, Menicon Co Ltd, Geneve, Switzerland
  • Footnotes
    Commercial Relationships   Pierre Isard, None; Kissaou Tchedre, Menicon Co . Ltd (E); Valerie Tsobnang, None; Marielle Mentek, None; Thomas Dulaurent, None; Pascale Quignon, None; Tetsushi Omori, Menicon Co . Ltd (E); Mouad Lamrani, Menicon Co . Ltd (E)
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 808. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to Subscribers Only
      Sign In or Create an Account ×
    • Get Citation

      Pierre François Isard, Kissaou Tchapou Tchedre, Valerie Tsobnang, Marielle Mentek, Thomas Dulaurent, Pascale Quignon, Tetsushi Omori, Mouad Lamrani; Identification of two Single Nucleotide Polymorphisms in SRBD1 Gene Associated to Glaucoma in several Dog Breeds.. Invest. Ophthalmol. Vis. Sci. 2016;57(12):808.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : Glaucoma is a serious eye disease that often leads to blindness. Glaucoma is often described as a degenerative optic neuropathy that is associated with elevated intraocular pressure. Primary glaucoma is a hereditary disease that affects both human and canines. But the genetic mutations association with glaucoma is not fully investigated.

Methods : Previously, we have shown a specific association of two single nucleotide polymorphisms (SNPs) with glaucoma in Shiba-Inus and Shih-Tzus. In this study, we screened polymorphisms within SRBD1 and CYP1B1 genes that have been shown to be associated with Glaucoma in several dog breeds. 77 healthy dogs and 135 cases dogs were recruited from the Centre Hospitalier Veterinaire Saint-Martin (France), and from the REOVVA member (European Network in Veterinary Ophthalmology and Vision in Animals). All Dogs were clinically evaluated before taking blood samples for direct sequencing Analysis.

Results : Two new SNPs (rs9172407 and rs22115601) within SRBD1 gene were significantly associated with glaucoma in within and across Dog breeds data analysis. In Across breed analysis both rs9172407 (Chi-Square test: P<4.26E-09; Odd Ratio: 3.567), and rs22115601 (Chi-Square test: P<0.00116827; Odd Ratio: 2.041) within SRBD1 gene showed a significant association with glaucoma. Both SNPS were also significantly associated with glaucoma in Within Dog breeds analysis in Golden Retriever: rs9172407 (Chi-Square test: P<0.003; Odd Ratio: 7.33) and rs22115601 (Chi-Square test: P<0.0162; Odd Ratio: 4.95), French bulldog rs9172407 (Chi-Square test: P<0.00177; Odd Ratio: 10.28) and rs22115601 (Chi-Square test: P<0.026; Odd Ratio: 3.6). In Eurasier Dog, SNP: rs9172407 (Chi-Square test: P<1.62E-12; Odd Ratio: 11) was significantly associated with glaucoma. There were no significant associations between the CYP1B1 polymorphisms and glaucoma in across and within Dog breeds.

Conclusions : As previously shown, SRBD1 may be a common susceptibility gene for glaucoma in dogs. The results of this study further confirm that SRBD1 is an important gene in dog glaucoma pathophysiology. Using direct sequencing these two identified SNPs combined with the previously identified SNPs can be used in genetic testing for Glaucoma development prediction in several Dog breeds. The results of this study show for the first time a strong association of SNPs in several dog breed.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×