Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, California, USA.
Anim Genet. 2022 Jun;53(3):436-440. doi: 10.1111/age.13200. Epub 2022 Apr 22.
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 ). 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.
马属复发性葡萄膜炎（ERU）是一种以眼葡萄膜炎症为特征的自身免疫性疾病。ERU 的病因被认为较为复杂，涉及遗传和环境因素。本研究旨在调查冰岛马 ERU 的潜在遗传风险因素。本研究纳入了丹麦和美国的 56 匹 8 岁及以上的冰岛马（11 匹患有 ERU，45 匹为对照）。在 Illumina Infinium HD Beadchip 上使用 GGP 马 80K 阵列进行了病例对照 GWAS，在 40 匹马中进行了分析。混合线性模型分析确定了 ECA 11 上的单个 SNP（BIEC2_141650；NC_009154.3:g.3817009A>G），该 SNP 达到全基因组显著水平（p=1.79×10）。该变体位于金属蛋白酶组织抑制剂 2（TIMP2）的内含子内，该基因先前与 ERU 有关。Sanger 测序在该基因中发现了一个单一的编码变异，但它是一个同义突变（NC_009154.3:g.3858193C>T），与 ERU 表型不完全一致（p=0.68）。需要进一步研究 TIMP2。需要更多的马和标记来确定其他潜在的与 ERU 风险相关的位点，以进一步研究冰岛马 ERU 的风险。
