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Equine veterinary journal2019; 52(3); 411-414; doi: 10.1111/evj.13182

Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed.

Abstract: Catastrophic fractures are among the most common cause of fatalities in racehorses. Several factors, including genetics, likely contribute to increased risk for fatal injuries. A variant in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase1 gene (PLOD1 c.2032G>A) was shown to cause Warmblood fragile foal syndrome type 1 (WFFS), a fatal recessive defect of the connective tissue. Screening of multiple horse breeds identified the presence of the WFFS allele in the Thoroughbred. PLOD1 is involved in cross-linking of collagen fibrils and thus could potentially increase the risk of catastrophic breakdown. Objective: Estimate the frequency of the WFFS allele (PLOD1 c.2032G>A) and determine if it is a risk factor for catastrophic breakdown in the Thoroughbred. Methods: Case-control genetic study. Methods: Genomic DNA from hair and/or tissue samples was genotyped for the WFFS allele. Fisher's Exact tests were performed to compare allele and carrier frequencies between the case cohort (catastrophic breakdown, n = 22) and several cohorts with no record of injury (n = 138 raced/trained at same track and season and n = 185 older than 7 years and raced during same season), nonracers (n = 92), and a random sample without consideration for racing history (n = 279). Results: The frequency of the PLOD1 c.2032G>A variant in the Thoroughbred breed is low (1.2%). Seventeen of 716 Thoroughbreds tested were carriers (2.4%) and no WFFS homozygotes were detected. Only one catastrophic breakdown case carried the WFFS allele. No statistically significant difference in allele or carrier frequency was identified between case and control cohorts (P>0.05 in all comparisons performed). Conclusions: This study evaluated cases from one single track. Conclusions: This study demonstrated that the PLOD1 c.2032G>A associated with WFFS is present at very low frequency in Thoroughbreds and is not a genetic risk factor for catastrophic breakdown.
© 2019 The Authors. Equine Veterinary Journal published by John Wiley & Sons Ltd on behalf of EVJ Ltd.
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Publication Date: 2019-10-04 PubMed ID: 31502696PubMed Central: PMC7062577DOI: 10.1111/evj.13182Google 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.

This research indicates that the mutation responsible for Warmblood fragile foal syndrome type 1 (WFFS), a fatal defect in horses’ connective tissues, does not significantly contribute to catastrophic breakdown, a common cause of fatalities among Thoroughbred racehorses. The mutation is found at a low frequency in the Thoroughbred breed.

Methods

  • The research team conducted a case-control genetic study.
  • The genomic DNA from hair and/or tissue samples of the horses was genotyped for the WFFS allele.
  • The researchers used Fisher’s Exact tests to compare the allele and carrier frequencies between horses that had a catastrophic breakdown and groups that did not.

Results

  • The study found that the PLOD1 c.2032G>A variant related to WFFS is present in Thoroughbreds at a low frequency of 1.2%.
  • Out of 716 Thoroughbreds tested, 17 were carriers of the WFFS mutation, a rate of 2.4%, and no horses carrying two copies of the WFFS mutation were found.
  • Only one horse that had suffered a catastrophic breakdown was found to be a carrier of the WFFS mutation.

Conclusion

  • The study concluded that the PLOD1 c.2032G>A mutation associated with WFFS is not a genetic risk factor for catastrophic breakdown in Thoroughbreds.
  • The data obtained suggests that the WFFS mutation is present in the Thoroughbred breed only at a very low frequency.

Cite This Article

APA
Bellone RR, Ocampo NR, Hughes SS, Le V, Arthur R, Finno CJ, Penedo MCT. (2019). Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed. Equine Vet J, 52(3), 411-414. https://doi.org/10.1111/evj.13182

Publication

Equine veterinary journal
ISSN: 2042-3306
NlmUniqueID: 0173320
Country: United States
Language: English
Volume: 52
Issue: 3
Pages: 411-414

Researcher Affiliations

Bellone, R R
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
  • Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Ocampo, N R
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Hughes, S S
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Le, V
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Arthur, R
  • School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Finno, C J
  • Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Penedo, M C T
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.

MeSH Terms

  • Alleles
  • Animals
  • Breeding
  • Gene Frequency
  • Horse Diseases / genetics
  • Horses
  • Mutation
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

Grant Funding

  • L40 TR001136 / NCATS NIH HHS
  • UC Davis Veterinary Genetics Laboratory

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Citations

This article has been cited 8 times.
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  2. Elcombe ME, Bellone RR, Magdesian KG, Finno CJ. Prevalence of the RAPGEF5 c.2624C>A and PLOD1 c.2032G>A variants associated with equine familial isolated hypoparathyroidism and fragile foal syndrome in the US Thoroughbred population (1988-2019). Equine Vet J 2023 Jul;55(4):666-671.
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