Investigation of high gamma-glutamyltransferase syndrome in California Thoroughbred racehorses.

Autor: Peng S; Department of Population Health and Reproduction, University of California, Davis, California, USA., Magdesian KG; Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, California, USA., Dowd J; Equine Medical and Surgical Group, Arcadia, California, USA., Blea J; Von Bleucher, Blea, Hunkin, DVM, Inc, Sierra Madre, California, USA., Carpenter R; DVM, Sierra Madre, California, USA., Ho W; Southern California Equine Foundation, Arcadia, California, USA., Finno CJ; Department of Population Health and Reproduction, University of California, Davis, California, USA.
Jazyk: angličtina
Zdroj: Journal of veterinary internal medicine [J Vet Intern Med] 2022 Nov; Vol. 36 (6), pp. 2203-2212. Date of Electronic Publication: 2022 Nov 15.
DOI: 10.1111/jvim.16582
Abstrakt: 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 -5 ), 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.
(© 2022 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.)
Databáze: MEDLINE
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