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Equine veterinary journal. Supplement2011; (38); 569-575; doi: 10.1111/j.2042-3306.2010.00181.x

Association of sequence variants in CKM (creatine kinase, muscle) and COX4I2 (cytochrome c oxidase, subunit 4, isoform 2) genes with racing performance in Thoroughbred horses.

Abstract: The wild progenitors of the domestic horse were subject to natural selection for speed and stamina for millennia. Uniquely, this process has been augmented in Thoroughbreds, which have undergone at least 3 centuries of intense artificial selection for athletic phenotypes. While the phenotypic adaptations to exercise are well described, only a small number of the underlying genetic variants contributing to these phenotypes have been reported. Objective: A panel of candidate performance-related genes was examined for DNA sequence variation in Thoroughbreds and the association with racecourse performance investigated. Methods: Eighteen candidate genes were chosen for their putative roles in exercise. Re-sequencing in Thoroughbred samples was successful for primer sets in 13 of these genes. SNPs identified in this study and from the EquCab2.0 SNP database were genotyped in 2 sets of Thoroughbred samples (n = 150 and 148) and a series of population-based case-control investigations were performed by separating the samples into discrete cohorts on the basis of retrospective racecourse performance. Results: Twenty novel SNPs were detected in 3 genes: ACTN3, CKM and COX4I2. Genotype frequency distributions for 3 SNPs in CKM and COX4I2 were significantly (P < 0.05) different between elite Thoroughbreds and racehorses that had never won a race. These associations were not validated when an additional (n = 130) independent set of samples was genotyped, but when analyses included all samples (n = 278) the significance of association at COX4I2 g.22684390C > T was confirmed (P < 0.02). Conclusions: While molecular genetic information has the potential to become a powerful tool to make improved decisions in horse industries, it is vital that rigour is applied to studies generating these data and that adequate and appropriate sample sets, particularly for independent replication, are used.
© 2010 EVJ Ltd.
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Publication Date: 2011-05-27 PubMed ID: 21059062DOI: 10.1111/j.2042-3306.2010.00181.xGoogle Scholar: Lookup
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  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research examined the genetic variations in Thoroughbred racehorses, specifically targeting genes responsible for athletic performance. The study found that sequence changes in the CKM and COX4I2 genes are significantly associated with race-winning ability, although full confirmation of this association requires further sampling and analysis.

Objective and Methods

  • The researchers intended to explore the sequence variation in various genes potentially linked with performance in racing horses. They analyzed the DNA sequences of 18 candidate genes known for their roles in exercise.
  • Re-sequencing was successfully performed on Thoroughbred samples for 13 of these genes. Following this, the researchers identified Single Nucleotide Polymorphisms (SNPs), or genetic variations, in these genes.
  • The detected SNPs were compared and genotyped in two separate sets of Thoroughbred samples. The researchers then performed a series of population-based case-control investigations by dividing the samples into discrete cohorts based on retrospective racing performance.

Results

  • Twenty novel SNPs were found in three genes: ACTN3, CKM, and COX4I2. The CKM (creatine kinase, muscle) and COX4I2 (cytochrome c oxidase, subunit 4, isoform 2) are particularly of interest as they relate to muscle function and cellular energy production respectively.
  • The genotype frequency distributions for three SNPs – one in CKM and two in COX4I2 – were significantly different between elite Thoroughbreds that have won races, and those that haven’t.
  • The associations were not validated when a third set of 130 independent samples was genotyped. However, when all samples (278 in total) were analyzed, the significance of the association with the COX4I2 SNP was confirmed.

Conclusions and Future Directions

  • The researchers concluded that molecular genetic information could potentially enhance decision making in horse industries such as breeding and training. However, the importance of rigor, adequate sampling, and independent replication in studies generating such data was underscored.
  • While the study provides initial evidence of a genetic link between certain sequence variations and racing performance in Thoroughbreds, more exhaustive research and larger sample sizes are needed for full validation.

Cite This Article

APA
Gu J, MacHugh DE, McGivney BA, Park SD, Katz LM, Hill EW. (2011). Association of sequence variants in CKM (creatine kinase, muscle) and COX4I2 (cytochrome c oxidase, subunit 4, isoform 2) genes with racing performance in Thoroughbred horses. Equine Vet J Suppl(38), 569-575. https://doi.org/10.1111/j.2042-3306.2010.00181.x

Publication

Equine veterinary journal. Supplement
NlmUniqueID: 9614088
Country: United States
Language: English
Issue: 38
Pages: 569-575

Researcher Affiliations

Gu, J
  • Animal Genomics Laboratory, UCD School of Agriculture, University Veterinary Hospital, Ireland.
MacHugh, D E
    McGivney, B A
      Park, S D E
        Katz, L M
          Hill, E W

            MeSH Terms

            • Animals
            • Creatine Kinase, MM Form / genetics
            • Creatine Kinase, MM Form / metabolism
            • Electron Transport Complex IV / genetics
            • Electron Transport Complex IV / metabolism
            • Gene Expression Regulation / physiology
            • Horses / genetics
            • Horses / physiology
            • Polymorphism, Single Nucleotide
            • Running / physiology

            Citations

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