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Animal genetics2019; 51(1); 43-50; doi: 10.1111/age.12866

A candidate-SNP retrospective cohort study for fracture risk in Japanese Thoroughbred racehorses.

Abstract: Fractures are medical conditions that compromise the athletic potential of horses and/or the safety of jockeys. Therefore, the reduction of fracture risk is an important horse and human welfare issue. The present study used molecular genetic approaches to determine the effect of genetic risk for fracture at four candidate SNPs spanning the myostatin (MSTN) gene on horse chromosome 18. Among the 3706 Japanese Thoroughbred racehorses, 1089 (29.4%) had experienced fractures in their athletic life, indicating the common occurrence of this injury in Thoroughbreds. In the case/control association study, fractures of the carpus (carpal bones and distal radius) were statistically associated with g.65809482T/C (P = 1.17 x 10 ), g.65868604G/T (P = 2.66 x 10 ), and g.66493737C/T (P = 6.41 x 10 ). In the retrospective cohort study using 1710 racehorses born in 2000, the relative risk (RR) was highest for male horses at g.65868604G/T, based on the dominant allele risk model (RR = 2.251, 95% confidence interval 1.407-3.604, P = 0.00041), and for female horses at g.65868604G/T, based on the recessive allele risk model (RR = 2.313, 95% confidence interval 1.380-3.877, P = 0.00163). Considering the association of these SNPs with racing performance traits such as speed, these genotypes may affect the occurrence of carpus fractures in Japanese Thoroughbred racehorses as a consequence of the non-genetic influence of the genotype on the distance and/or intensity of racing and training. The genetic information presented here may contribute to the development of strategic training programs and racing plans for racehorses that improve their health and welfare.
© 2019 Stichting International Foundation for Animal Genetics.
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Publication Date: 2019-10-14 PubMed ID: 31612520DOI: 10.1111/age.12866Google Scholar: Lookup
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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.

This research study is about investigating the link between specific genetic variations and the likelihood of bone fractures in Japanese Thoroughbred racehorses. The study utilizes molecular genetic approaches to examine this relationship with a primary focus on four variants within the myostatin gene, known for its role in muscle development.

Overview of the Research

The objective of this research was to determine the risk for bone fractures in horses and how genetic factors may play into this. The researchers used molecular genetic analysis to study the influence of Single Nucleotide Polymorphisms (SNPs), which are individual variations in the DNA sequence. The study tracked these genetic variations across the myostatin (MSTN) gene which is associated with muscle growth and development on horse chromosome 18.

  • The study employed a sample size of 3706 Japanese Thoroughbred racehorses, out of which about 29.4% (1089 horses) had experienced fractures at some point in their athletic careers.
  • Four candidate SNPs spanning the MSTN gene were chosen for the study.

Main Findings

The research discovered significant associations between certain genetic variations and the incidence of fractures in specific parts of the anatomy.

  • Fractures of the carpal bones and the distal radius, parts of the foreleg in horses, were statistically associated with three SNPs located in the MSTN gene.
  • The results suggested that the risk varied based on the gender of the horse and the dominant/recessive status of the allele. For male horses, the relative risk was highest for one SNP (g.65868604G/T) following the dominant allele risk model, while for female horses, the risk was highest for the same SNP under the recessive allele risk model.

Significance of the Study

The results of this study are meaningful when it comes to the health and welfare of racehorses.

  • The identification of these specific gene variants provides an insight into its implications on a horse’s susceptibility to fractures. This can be utilized in developing tailored, strategic training programs and racing plans that take into account the genetic predispositions of the horse.
  • The SNPs associated with fracture risk were found to also be related to racing performance which may impact the frequency & intensity of racing, hence indicating a non-genetic influence of the genotype on injury occurrence.
  • By leveraging this genetic information, it may be possible to reduce the risk of injury and improve the overall health and welfare of thoroughbred racehorses.

Cite This Article

APA
Tozaki T, Kusano K, Ishikawa Y, Kushiro A, Nomura M, Kikuchi M, Kakoi H, Hirota K, Miyake T, Hill EW, Nagata S. (2019). A candidate-SNP retrospective cohort study for fracture risk in Japanese Thoroughbred racehorses. Anim Genet, 51(1), 43-50. https://doi.org/10.1111/age.12866

Publication

Animal genetics
ISSN: 1365-2052
NlmUniqueID: 8605704
Country: England
Language: English
Volume: 51
Issue: 1
Pages: 43-50

Researcher Affiliations

Tozaki, T
  • Genetic Analysis Department, Laboratory of Racing Chemistry, 1731-2 Tsurutamachi, Utsunomiya, Tochigi, 320-0851, Japan.
Kusano, K
  • Equine Department, Japan Racing Association, Minato, Tokyo, 106-8401, Japan.
Ishikawa, Y
  • Racehorse Hospital Ritto Training Center, Japan Racing Association, Ritto, Shiga, 520-3005, Japan.
Kushiro, A
  • Racehorse Hospital Miho Training Center, Japan Racing Association, Miho, Ibaraki, 300-0493, Japan.
Nomura, M
  • Racehorse Hospital Ritto Training Center, Japan Racing Association, Ritto, Shiga, 520-3005, Japan.
Kikuchi, M
  • Genetic Analysis Department, Laboratory of Racing Chemistry, 1731-2 Tsurutamachi, Utsunomiya, Tochigi, 320-0851, Japan.
Kakoi, H
  • Genetic Analysis Department, Laboratory of Racing Chemistry, 1731-2 Tsurutamachi, Utsunomiya, Tochigi, 320-0851, Japan.
Hirota, K
  • Genetic Analysis Department, Laboratory of Racing Chemistry, 1731-2 Tsurutamachi, Utsunomiya, Tochigi, 320-0851, Japan.
Miyake, T
  • Comparative Agricultural Sciences, Graduate School of Agriculture, Kyoto University, Kyoto, 606-8502, Japan.
Hill, E W
  • School of Agriculture and Food Science, University College Dublin, Dublin, 4, Ireland.
  • Plusvital Ltd, The Highline, Dun Laoghaire Industrial Estate, Pottery Road, Dun Laoghaire, Co Dublin, Ireland.
Nagata, S
  • Genetic Analysis Department, Laboratory of Racing Chemistry, 1731-2 Tsurutamachi, Utsunomiya, Tochigi, 320-0851, Japan.

MeSH Terms

  • Animals
  • Case-Control Studies
  • Female
  • Fractures, Bone / genetics
  • Fractures, Bone / veterinary
  • Genetic Predisposition to Disease
  • Genotype
  • Horses / genetics
  • Japan
  • Male
  • Polymorphism, Single Nucleotide
  • Retrospective Studies

Grant Funding

  • JRA 2014-2016 / Japan Racing Association

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Citations

This article has been cited 5 times.
  1. Physick-Sheard P, Avison A, Sears W. Factors Associated with Mortality in Ontario Standardbred Racing: 2003-2015. Animals (Basel) 2021 Apr 5;11(4).
    doi: 10.3390/ani11041028pubmed: 33916415google scholar: lookup
  2. Hanousek K, O'Hara V, Riddell DO, Piercy RJ. Temporal and intra-horse consistency of circulating myostatin concentrations in Thoroughbred racehorses. Sci Rep 2025 Nov 5;15(1):38708.
    doi: 10.1038/s41598-025-22472-7pubmed: 41193553google scholar: lookup
  3. Palomino Lago E, Ross AKC, McClellan A, Guest DJ. Identification of a global gene expression signature associated with the genetic risk of catastrophic fracture in iPSC-derived osteoblasts from Thoroughbred horses. Anim Genet 2025 Feb;56(1):e13504.
    doi: 10.1111/age.13504pubmed: 39801206google scholar: lookup
  4. Durward-Akhurst SA, Marlowe JL, Schaefer RJ, Springer K, Grantham B, Carey WK, Bellone RR, Mickelson JR, McCue ME. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep 2024 Apr 10;14(1):8396.
    doi: 10.1038/s41598-024-57872-8pubmed: 38600096google scholar: lookup
  5. Palomino Lago E, Baird A, Blott SC, McPhail RE, Ross AC, Durward-Akhurst SA, Guest DJ. A Functional Single-Nucleotide Polymorphism Upstream of the Collagen Type III Gene Is Associated with Catastrophic Fracture Risk in Thoroughbred Horses. Animals (Basel) 2023 Dec 28;14(1).
    doi: 10.3390/ani14010116pubmed: 38200847google scholar: lookup
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