An analogous condition to human metabolic syndrome, Equine Metabolic Syndrome (EMS) is defined by several clinical signs including obesity, hyperinsulinemia, and peripheral insulin dysregulation (ID). Affected horses may also exhibit hypertension, hyperlipemia and systemic inflammation. Measures of ID typically comprise the gold-standard for diagnosis in veterinary care. Yet, the dynamic nature of insulin homeostasis and complex procedures of typical assays make accurate quantification of ID and EMS challenging. This work aimed to investigate new strategies for identification of biochemical markers and correlated genes in EMS. To quantify EMS risk within this population, we utilized a composite score derived from nine common diagnostic variables. We applied a global liquid chromatography/mass spectroscopy approach (HPLC/MS) to whole plasma collected from 49 Arabian horses, resulting in 3392 high-confidence features and identification of putative metabolites in public databases. We performed a genome wide association analysis with genotypes from the 670k Affymetrix Equine SNP array utilizing EMS-correlated metabolites as phenotypes. We discovered four metabolite features significantly correlated with EMS score (P < 1.474 × 10⁻⁵). GWAs for these features results (P = 6.787 × 10⁻⁷, Bonferroni) identified four unique candidate regions (r² > 0.4) containing 63 genes. Significant genomic markers capture 43.52% of the variation in the original EMS score phenotype. The identified genomic loci provide insight into the pathways controlling variation in EMS and the origin of genetic predisposition to the condition. Rapid, feasible and accurate diagnostic tools derived from metabogenomics can be translated into measurable benefits in the timeline and quality of preventative management practices to preserve health in horses.

马代谢综合征 (EMS) 是一种与人类代谢综合征类似的疾病，由多种临床症状定义，包括肥胖、高胰岛素血症和外周胰岛素失调 (ID)。受影响的马也可能表现出高血压、高脂血症和全身炎症。ID 的测量通常包括兽医护理诊断的金标准。然而，胰岛素稳态的动态特性和典型检测的复杂程序使得 ID 和 EMS 的准确量化具有挑战性。这项工作旨在研究在 EMS 中识别生化标记和相关基因的新策略。为了量化该人群中的 EMS 风险，我们使用了来自九个常见诊断变量的综合评分。我们将全球液相色谱/质谱法 (HPLC/MS) 应用于从 49 匹阿拉伯马收集的全血浆，产生了 3392 个高度可信的特征，并在公共数据库中鉴定了推​​定的代谢物。我们使用 EMS 相关代谢物作为表型，对来自 670k Affymetrix Equine SNP 阵列的基因型进行了全基因组关联分析。我们发现四种代谢物特征与 EMS 评分显着相关（P  < 1.474 × 10 ^-5 )。这些特征的 GWA 结果（P  = 6.787 × 10 ^-7，Bonferroni）确定了四个独特的候选区域（r ²  > 0.4），包含 63 个基因。显着的基因组标记捕获了原始 EMS 评分表型中 43.52% 的变异。鉴定出的基因组位点提供了对控制 EMS 变异的途径和疾病遗传易感性起源的深入了解。源自代谢基因组学的快速、可行和准确的诊断工具可以转化为预防管理实践的时间表和质量中的可衡量的好处，以保护马的健康。