Journal of Animal Reproduction and Biotechnology (한국동물생명공학회지)

The Korean Society of Animal Reproduction and Biotechnology (한국동물생명공학회)
권호 표지
DOI QR코드

DOI QR Code

Exploration of predictive markers associated with primary angle-closure glaucoma risk in companion dogs using genomic information

  • Received : 2024.12.05
  • Accepted : 2024.12.22
  • Published : 2024.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Background: With the growing interest in the health of companion dogs, their average lifespan has increased, leading to an increase in the proportion of elderly dogs. As elderly dogs are vulnerable to various diseases, there is a need for alternatives to predict the risk of major diseases in senior dogs, prevent them in advance, and manage their health effectively. Therefore, this study was conducted to identify candidate genes and single nucleotide polymorphisms (SNPs) influencing primary angle-closure glaucoma, a major disease in elderly dogs, using the Axiom Canine HD Array and establishing foundational data. Methods: Samples from 95 dogs of 26 breeds from South Korea were analyzed using an SNP chip. Ultimately, two SNPs were selected. To assess the impact of non-synonymous SNP (nsSNPs), functional analysis of candidate genes, Hazard Assessment, and protein structure prediction were conducted. Sequencing for SNP validation involved samples from 95 dogs of ten breeds with reported domestic and international glaucoma cases. Results: The candidate gene TNS1 was associated with the integrin signaling pathway. The selected nsSNP was found to cause a mutation at the ninth position of the amino acid sequence, changing serine to leucine and resulting in alterations to the overall protein structure. Sequencing analysis results for SNP validation revealed differences in frequency among breeds. Conclusions: The identified SNP markers are potential risk prediction tools. Utilizing genotype frequency data by breed and individual could aid in disease management and contribute to advancements in the medical industry.

Keywords

Acknowledgement

This study is based on the author's Master's thesis.

References

  1. Botstein D, White RL, Skolnick M, Davis RW. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32: 314-331.
  2. Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. 2015. Second-generation PLINK: rising to the challenge of larger and richer data sets. Gigascience 4: 7. https://doi.org/10.1186/s13742-015-0047-8
  3. Gelatt KN and MacKay EO. 2004. Prevalence of the breed-related glaucomas in pure-bred dogs in North America. Vet. Ophthalmol. 7:97-111. https://doi.org/10.1111/j.1463-5224.2004.04006.x
  4. Hwang WK and Lee SA. 2023. 2023 Korea pet report. Retrieved from https://www.kbfg.com/kbresearch/report/reportView.do?report Id=2000396
  5. Hwang WK and Son GP. 2021. 2021 Korea pet report. Retrieved from https://www.kbfg.com/kbresearch/report/reportView.do?reportId=2000160
  6. Jung H. 2018. The physiologic change associated with aging, essential nutrients, and their diseases in senior or geriatric dogs. J. Oil App. Sci. 35: 1456-1471,
  7. Kato K, Sasaki N, Matsunaga S, Nishimura R, Ogawa H. 2006. Incidence of canine glaucoma with goniodysplasia in Japan: a retrospective study. J. Vet. Med. Sci. 68: 853-858. https://doi.org/10.1292/jvms.68.853
  8. Korea Rural Economic Institute (KREI). 2024. Agricultural outlook 2024 Korea: agriculture and rural areas in an era of uncertainty, challenges and future. KREI, Naju.
  9. Mirdita M, Schittze K, Moriwaki Y, Heo L, Ovchinnikov S, Steinegger M. 2022. ColabFold: making protein folding a c-cessible to all. Nat. Methods. 19: 679-682. https://doi.org/10.1038/s41592-022-01488-1
  10. Mrugacz M, Bryl A, Falkowski M, Zorena K. 2021. Integrins: an important link between angiogenesis, inflammation and eye diseases. Cells 10: 1703.
  11. Oliver JAC, Ricketts SL, Kuehn MH, Mellersh CS. 2019. Primary closed angle glaucoma in the Basset Hound: genetic investigations using genome-wide association and RNA sequencing strategies. Mol. Vis. 25: 93-105.
  12. Park JW and Jeong M. 2023. Primary angle-closure glaucoma in a Maltipoo dog. J. Vet. Clin. 40:221-224. https://doi.org/10.17555/jvc.2023.40.3.221
  13. Park Y, Jeong M, Park SA, Kim WT, Kin SE, Ahn J, Seo K. 2012. A retrospective study of primary glaucoma in dogs: 43 cases (2006~2009). J. Vet. Clin. 29: 38-42.
  14. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81: 559-575. https://doi.org/10.1086/519795
  15. Shih YP, Sun P, Wang A, Lo SH. 2015. Tensinl positively regu-lates RhoA activity through its interaction with DLC1. Biochim. Biophys. Acta. 1853: 3258-3265, https://doi.org/10.1016/j.bbamcr.2015.09.028
  16. Soundararajan A, Wang T, Pattabiraman PP. 2024. Proteomic analysis uncovers clusterin-mediated disruption of actin-based contractile machinery in the trabecular mesh-work to lower intraocular pressure. bioRxiv. https://doi.org/10.1101/2024.02.16.580757
  17. Yun S, Kang S, Kim Y, Seo K. 2022. A retrospective study of ca-nine primary glaucoma (2011-2020). J. Vet. Clin. 39: 162-167. https://doi.org/10.17555/jvc.2022.39.4.162
  18. Zhong Y, Wang J, Luo X. 2013. Integrins in trabecular meshwork and optic nerve head: possible association with the pathogenesis of glaucoma. Biomed. Res. Int. 2013: 202905. https://doi.org/10.1155/2013/202905