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