Peer-reviewed veterinary case report
Investigation of high gamma-glutamyltransferase syndrome in California Thoroughbred racehorses.
- Journal:
- Journal of veterinary internal medicine
- Year:
- 2022
- Authors:
- Peng, Sichong et al.
- Affiliation:
- Department of Population Health and Reproduction · United States
Abstract
BACKGROUND: Increases in serum gamma-glutamyltransferase (GGT) activity have been reported in Thoroughbred (TB) racehorses and associated with maladaptation to training but the underlying etiology remains unknown. HYPOTHESIS/OBJECTIVES: Classify the etiology of high GGT syndrome in racing TBs by assessment of pancreatic enzymes, vitamin E concentrations, and both a candidate gene and whole genome association study. We hypothesized that a genetic variant resulting in antioxidant insufficiency or pancreatic dysfunction would be responsible for high GGT syndrome in TBs. ANIMALS: A total of 138 California racing TBs. Amylase: n = 31 affected (serum GGT activity ≥60 IU/L), n = 52 control (serum GGT activity <40 IU/L). Lipase: n = 19 affected, n = 35 control. Serum α-tocopherol concentrations: n = 32 affected, n = 46 control. Genome-wide association study (GWAS): 36 affected, 58 control. Whole genome sequencing: n = 5 affected, n = 5 control. METHODS: Biochemical and vitamin analytes were compared among cohorts. A GWAS was performed and a subset of TBs underwent whole genome sequencing to interrogate candidate genes and positional genetic regions. RESULTS: Serum lipase and amylase activity and α-tocopherol concentrations did not differ between groups. No genetic variants were identified in 2 candidate genes (UGT1A1 and GGT1) that associated with the phenotype. Four single nucleotide polymorphisms (SNPs) approached a suggestive association with the phenotype (P = 2.15 × 10), defining a 100 kb region on chromosome 5 surrounding cluster of differentiation 1a (CD1A1), a transmembrane gene related to the major histocompatibility complex. CONCLUSIONS AND CLINICAL IMPORTANCE: An underlying genetic etiology may exist for high GGT syndrome in racing TBs, similar to genetic disorders in humans.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/36377652/