Abstract
Purpose :
Glaucoma is a neurodegenerative ocular disease caused by genetic and environmental factors. Dogs, like humans, can also develop glaucoma, and certain breeds exhibit a higher prevalence of glaucoma than humans. Many previous studies have reported that the SIX homeobox 6 (SIX6) gene polymorphisms were associated with human glaucoma. In this study, we investigated whether SIX6 gene polymorphisms are associated with glaucoma in dogs.
Methods :
We recruited 105 Shiba-Inu dogs (49 cases, 56 controls) and 57 Shih-Tzu dogs (18 cases, 39 controls). We genotyped 19 single-nucleotide polymorphisms (SNPs) in the SIX6 gene using the TaqMan assay and assessed the allelic diversity among cases and controls.
Results :
In Shiba-Inu dogs, rs851962234, located in the 3'-untranslated region of SIX6, was significantly associated with glaucoma (P = 0.0013, Pc < 0.05), and the A allele of rs851962234 had an increased risk of glaucoma (OR = 4.83). In contrast, rs851962234 did not exhibit a significant association with glaucoma in Shih-Tzu dogs, possibly due to the low frequency of the A allele in Shih-Tzus. None of the other 18 SNPs showed any association with glaucoma in either breed.
Conclusions :
We found that SIX6 rs851962234 contributes to the risk of glaucoma in Shiba-Inus, suggesting that SIX6 is a common susceptibility gene for glaucoma in both humans and dogs. To validate our findings, further studies with independent dog cohorts are necessary.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.