Abstract
Equine recurrent uveitis (ERU) is a common eye disease affecting up to 3–15% of the horse population. A genome-wide association study (GWAS) using the Illumina equine SNP50 bead chip was performed to identify loci conferring risk to ERU. The sample included a total of 144 German warmblood horses. A GWAS showed a significant single nucleotide polymorphism (SNP) on horse chromosome (ECA) 20 at 49.3 Mb, with IL-17A and IL-17F being the closest genes. This locus explained a fraction of 23% of the phenotypic variance for ERU. A GWAS taking into account the severity of ERU, revealed a SNP on ECA18 nearby to the crystalline gene cluster CRYGA-CRYGF. For both genomic regions on ECA18 and 20, significantly associated haplotypes containing the genome-wide significant SNPs could be demonstrated. In conclusion, our results are indicative for a genetic component regulating the possible critical role of IL-17A and IL-17F in the pathogenesis of ERU. The associated SNP on ECA18 may be indicative for cataract formation in the course of ERU.
Highlights
Autoimmune diseases are characterized by an aberrant immune response
The present results indicate that the response to Equine recurrent uveitis (ERU) is associated with a genomic region located very closely to the candidate genes interleukin 17A (IL-17A) and IL-17F
The final marker set did not contain single nucleotide polymorphism (SNP) located within these candidate genes and all other SNPs were more distant to the candidate genes IL-17A and IL-17F
Summary
Autoimmune diseases are characterized by an aberrant immune response. More than 35 cytokine and cytokine receptor gene loci have emerged as risk factors for over 15 autoimmune diseases in human [1]. In the long-term, further changes become visible in ERU-affected horses such as synechiae, pigment deposition on the anterior lens capsule, phthisis bulbi, retinal detachment, cataract and lens luxation [7,8,9,10,11,12]. These profound damages lead to blindness or amblyopia, causing premature retirement of horses and high economic losses for the owners. The link between Leptospira spp. and the chronic recurrence of intraocular inflammations have driven the hypothesis that ERU may be considered as an autoimmune uveitis [9,10,20]
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