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Nobuyuki Kanemaki, Kissaou Tchedre, Masaki Imayasu, Akira Meguro, Nobuhisa Mizuki; Identification of S1 RNA Binding Domain-1 SRBD1 as a Major Gene Determining Glaucoma in Dogs. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6219.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the association between glaucoma pathology in Shiba-Inu dog and the polymorphisms of glaucoma candidate genes, SRBD1, ELOVL5 and ADAMTS10.
Peripheral blood samples were collected from 47 glaucoma with high intraocular pressure (IOP, more than 25 mmHg) and 34 normal Shiba-Inu dogs with normal IOP (less than 25 mmHg). After purification of genomic DNA, SRBD1 gene polymorphisms (rs22018514 and rs22018513), ELOVL5 gene polymorphisms (rs22202438 and rs8643563), and ADAMTS10 gene polymorphisms (the 56097365 G>A variant) were analyzed by the direct DNA sequencing method. Twenty-two (22) glaucoma and 28 control Shih-Tzu dogs were also tested.
The most statistically significant association was observed for rs22018513 (P=0.0019), with a 2.92-fold (95% confidence interval, 1.47-5.81) increased risk of glaucoma in Shiba-Inu dogs as well as Shih-Tzu dogs (P=0.037, odds ratio=7.17 (0.86-59.66)). For rs22018514, significant association was observed in Shiba-Inu dogs (P=0.0030, odds ratio=3.03 (1.43-6.40)) unlike no significant association in Shih-Tzu dogs (P=0.918, odds ratio=1.07 (0.30-3.76)). There were no significant associations between cases and controls for rs22202438, rs8643563 and ADAMTS10 gene polymorphisms (the 56097365 G>A variant) in Shiba-Inu and Shih-Tzu dogs.
The results showed that 2 SNPs of SRBD1 play an important role in the pathology of glaucoma in dog and therefore, SRBD1 is a susceptible gene for glaucoma in Shiba-Inu dog. We anticipated that the single nucleotide sequencing data from this study can be used as a genetic testing to determine for the first time with precision whether a dog has glaucoma and to predict whether a dog will develop glaucoma.
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