{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Peng S"],"funding":["National Center for Advancing Translational Sciences","NCATS NIH HHS","UC Davis Center for Equine Health","Southern California Equine Foundation"],"pagination":["2203-2212"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9708438"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["36(6)"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Hypothesis/objectives</h4>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.<h4>Animals</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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<sup>-5</sup> ), defining a 100 kb region on chromosome 5 surrounding cluster of differentiation 1a (CD1A1), a transmembrane gene related to the major histocompatibility complex.<h4>Conclusions and clinical importance</h4>An underlying genetic etiology may exist for high GGT syndrome in racing TBs, similar to genetic disorders in humans."],"journal":["Journal of veterinary internal medicine"],"pubmed_title":["Investigation of high gamma-glutamyltransferase syndrome in California Thoroughbred racehorses."],"pmcid":["PMC9708438"],"funding_grant_id":["L40 TR001136","NA"],"pubmed_authors":["Blea J","Magdesian KG","Carpenter R","Peng S","Ho W","Finno CJ","Dowd J"],"additional_accession":[]},"is_claimable":false,"name":"Investigation of high gamma-glutamyltransferase syndrome in California Thoroughbred racehorses.","description":"<h4>Background</h4>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.<h4>Hypothesis/objectives</h4>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.<h4>Animals</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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<sup>-5</sup> ), defining a 100 kb region on chromosome 5 surrounding cluster of differentiation 1a (CD1A1), a transmembrane gene related to the major histocompatibility complex.<h4>Conclusions and clinical importance</h4>An underlying genetic etiology may exist for high GGT syndrome in racing TBs, similar to genetic disorders in humans.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2026-06-21T03:17:04.667Z","creation":"2025-04-07T06:21:26.167Z"},"accession":"S-EPMC9708438","cross_references":{"pubmed":["36377652"],"doi":["10.1111/jvim.16582"]}}