June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Genome-wide association study of corneal endothelial dystrophy in Boston terriers with the addition of formalin-fixed paraffin embedded tissue samples
Author Affiliations & Notes
  • Laura J Young
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • M Isabel Casanova
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Danika L Bannasch
    Department of Population Health and Reproduction, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Sangwan Park
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Nayeli Echeverria
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Morgan AW Bowman
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Alyssa L Hoehn
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Connor Chang
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Michelle Ferneding
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Brian Leonard
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Kathryn L Good
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
  • Jennifer Y Li
    Department of Ophthalmology & Vision Science, University of California Davis School of Medicine, Sacramento, California, United States
  • Sara M Thomasy
    Department of Surgical and Radiological Sciences, University of California Davis School of Veterinary Medicine, Davis, California, United States
    Department of Ophthalmology & Vision Science, University of California Davis School of Medicine, Sacramento, California, United States
  • Footnotes
    Commercial Relationships   Laura Young None; M Isabel Casanova None; Danika Bannasch None; Sangwan Park None; Nayeli Echeverria None; Morgan Bowman None; Alyssa Hoehn None; Connor Chang None; Michelle Ferneding None; Brian Leonard None; Kathryn Good None; Jennifer Li None; Sara Thomasy None
  • Footnotes
    Support  NIH Grant P30 EY12576, NIH Grant R01EY016134, Jane-Lin Fong Ophthalmic Clinical Trial Support Fund, University of California Davis School of Veterinary Medicine Center for Companion Animal Health, American Kennel Club Canine Health Foundation
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 2778. doi:
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      Laura J Young, M Isabel Casanova, Danika L Bannasch, Sangwan Park, Nayeli Echeverria, Morgan AW Bowman, Alyssa L Hoehn, Connor Chang, Michelle Ferneding, Brian Leonard, Kathryn L Good, Jennifer Y Li, Sara M Thomasy; Genome-wide association study of corneal endothelial dystrophy in Boston terriers with the addition of formalin-fixed paraffin embedded tissue samples. Invest. Ophthalmol. Vis. Sci. 2023;64(8):2778.

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

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Abstract

Purpose : Fuchs endothelial corneal dystrophy (FECD) is a progressive disease characterized by the early degeneration of corneal endothelial cells. Genetic risk factors have been identified to contribute to the disease pathogenesis in humans. An analogous condition in dogs is corneal endothelial dystrophy (CED) which clinically manifests as progressive corneal edema and bullous keratopathy. Amongst dogs diagnosed with CED, Boston terriers are markedly overrepresented suggesting an underlying genetic predisposition. Thus, a case-control and a quantitative GWAS were conducted to determine the genetic factors that contribute to CED in Boston terriers.

Methods : DNA was extracted from venous blood or formalin-fixed paraffin embedded (FFPE) tissue samples of 85 CED-affected Boston terriers and 114 breed-matched controls. A clustering analysis and quality control measures were applied to each sample. A case-control GWAS with 80 cases and 107 control was conducted. A quantitative GWAS was employed in 29 cases and 46 controls determined using endothelial cell density values.

Results : Of the 171 DNA samples obtained from blood, 170 successfully passed GWAS quality control filters. Of the 28 DNA samples extracted from the FFPE tissue samples from enucleated globes, 18 (64%) were successfully added to the GWAS after quality control filtering and clustering analysis. Both the case-control (λ=1.17) and quantitative GWAS (λ=1.12) failed to identify a region of association for CED in Boston terriers.

Conclusions : This study, in combination with our current knowledge of CED in Boston terriers, suggests that CED is inherited as a multigenic trait. Due to the complex nature of this disease, our study may be underpowered, and the addition of more samples is needed to identify a statistically significant region associated with CED in Boston terriers. FFPE samples are readily available from biobanks and provide an untapped resource of DNA for genetic studies.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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