Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses

K. L. Fritz, H. J. Kaese, S. J. Valberg, J. A. Hendrickson, A. K. Rendahl, Rebecca Bellone, K. M. Dynes, M. L. Wagner, M. A. Lucio, F. M. Cuomo, C. L. Brinkmeyer-Langford, L. C. Skow, J. R. Mickelson, M. S. Rutherford, M. E. McCue

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Appaloosa horses are predisposed to equine recurrent uveitis (ERU), an immune-mediated disease characterized by recurring inflammation of the uveal tract in the eye, which is the leading cause of blindness in horses. Nine genetic markers from the ECA1 region responsible for the spotted coat color of Appaloosa horses, and 13 microsatellites spanning the equine major histocompatibility complex (ELA) on ECA20, were evaluated for association with ERU in a group of 53 Appaloosa ERU cases and 43 healthy Appaloosa controls. Three markers were significantly associated (corrected P-value <0.05): a SNP within intron 11 of the TRPM1 gene on ECA1, an ELA class I microsatellite located near the boundary of the ELA class III and class II regions and an ELA class II microsatellite located in intron 1 of the DRA gene. Association between these three genetic markers and the ERU phenotype was confirmed in a second population of 24 insidious ERU Appaloosa cases and 16 Appaloosa controls. The relative odds of being an ERU case for each allele of these three markers were estimated by fitting a logistic mixed model with each of the associated markers independently and with all three markers simultaneously. The risk model using these markers classified ∼80% of ERU cases and 75% of controls in the second population as moderate or high risk, and low risk respectively. Future studies to refine the associations at ECA1 and ELA loci and identify functional variants could uncover alleles conferring susceptibility to ERU in Appaloosa horses.

Original languageEnglish (US)
Pages (from-to)392-399
Number of pages8
JournalAnimal Genetics
Volume45
Issue number3
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

Fingerprint

Appaloosa
Uveitis
Horses
risk factors
horses
Microsatellite Repeats
microsatellite repeats
Genetic Markers
Introns
introns
Alleles
alleles
genetic markers
blindness
Immune System Diseases
major histocompatibility complex
Blindness
Major Histocompatibility Complex

Keywords

  • association analysis
  • ERU
  • eye disorder
  • major histocompatibility complex
  • MHC

ASJC Scopus subject areas

  • Genetics
  • Animal Science and Zoology
  • Medicine(all)

Cite this

Fritz, K. L., Kaese, H. J., Valberg, S. J., Hendrickson, J. A., Rendahl, A. K., Bellone, R., ... McCue, M. E. (2014). Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses. Animal Genetics, 45(3), 392-399. https://doi.org/10.1111/age.12129

Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses. / Fritz, K. L.; Kaese, H. J.; Valberg, S. J.; Hendrickson, J. A.; Rendahl, A. K.; Bellone, Rebecca; Dynes, K. M.; Wagner, M. L.; Lucio, M. A.; Cuomo, F. M.; Brinkmeyer-Langford, C. L.; Skow, L. C.; Mickelson, J. R.; Rutherford, M. S.; McCue, M. E.

In: Animal Genetics, Vol. 45, No. 3, 01.01.2014, p. 392-399.

Research output: Contribution to journalArticle

Fritz, KL, Kaese, HJ, Valberg, SJ, Hendrickson, JA, Rendahl, AK, Bellone, R, Dynes, KM, Wagner, ML, Lucio, MA, Cuomo, FM, Brinkmeyer-Langford, CL, Skow, LC, Mickelson, JR, Rutherford, MS & McCue, ME 2014, 'Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses', Animal Genetics, vol. 45, no. 3, pp. 392-399. https://doi.org/10.1111/age.12129
Fritz KL, Kaese HJ, Valberg SJ, Hendrickson JA, Rendahl AK, Bellone R et al. Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses. Animal Genetics. 2014 Jan 1;45(3):392-399. https://doi.org/10.1111/age.12129
Fritz, K. L. ; Kaese, H. J. ; Valberg, S. J. ; Hendrickson, J. A. ; Rendahl, A. K. ; Bellone, Rebecca ; Dynes, K. M. ; Wagner, M. L. ; Lucio, M. A. ; Cuomo, F. M. ; Brinkmeyer-Langford, C. L. ; Skow, L. C. ; Mickelson, J. R. ; Rutherford, M. S. ; McCue, M. E. / Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses. In: Animal Genetics. 2014 ; Vol. 45, No. 3. pp. 392-399.
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