A genetic investigation of equine recurrent uveitis in the Icelandic horse breed

Yael Hack, Michala de Linde Henriksen, Tina Holberg Pihl, Rikke Krarup Nielsen, Ann E. Dwyer, Rebecca R. Bellone

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Equine recurrent uveitis (ERU) is an autoimmune disease defined by inflammation of the uveal tract of the eye. The cause of ERU is thought to be complex, involving both genetic and environmental factors. The purpose of this study was to investigate potential genetic risk factors for ERU in the Icelandic horse. Fifty-six Icelandic horses (11 affected with ERU and 45 controls) living in Denmark and the USA, eight years or older, were included in the study. A case–control GWAS was performed using the GGP Equine 80K array on the Illumina Infinium HD Beadchip using 40 horses. A mixed linear model analysis identified a single SNP on ECA 11 (BIEC2_141650; NC_009154.3:g.3817009A>G) that reached genome-wide significance (p = 1.79 × 10−7). This variant was within an intron of tissue inhibitor of metalloproteinase 2 (TIMP2), a gene previously implicated in ERU. Sanger sequencing identified a single coding variant in this gene; however it was a synonymous mutation (NC_009154.3:g.3858193C>T) and was not perfectly concordant with ERU phenotype (p = 0.68). Further investigation of TIMP2 is warranted. Additional horses and markers are needed to identify other potential loci worthy of further investigation as contributors to ERU risk in Icelandic horses.

Original languageEnglish (US)
Pages (from-to)436-440
Number of pages5
JournalAnimal Genetics
Issue number3
StatePublished - Jun 2022
Externally publishedYes


  • genome-wide association study
  • horses
  • ocular disease
  • ophthalmology
  • TIMP2

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Genetics


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