Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in horses in Ireland.
Abstract: Warmblood Fragile Foal Syndrome (WFFS) is an autosomal recessive disorder caused by a mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene. Homozygosity for the mutation results in defective collagen synthesis which clinically manifests as the birth of non viable or still born foals with abnormally fragile skin. While the mutation has been identified in non Warmblood breeds including the Thoroughbred, to date all homozygous clinically affected cases reported in the scientific literature are Warmblood foals. The objective of this study was to investigate the carrier frequency of the mutation in the Thoroughbred and sport horse populations in Ireland. Methods: A test was developed at the UCD School of Veterinary Medicine using real-time PCR to amplify the PLOD1 gene c.2032G > A variant. A subset of the samples was also submitted to an external laboratory with a licensed commercial WFFS genetic test. Results: Warmblood Fragile Foal Syndrome genotyping was performed on hair samples from 469 horses representing 6 different breeds. Six of 303 (1.98%) sport horses tested and three of 109 (2.75%) Thoroughbreds tested were heterozygous for the WFFS polymorphism (N/WFFS). The WFFS polymorphism was not identified in the Standardbred, Cob, Connemara, or other pony breeds. Conclusions: The study identified a low frequency of the WFFS causative mutation in sport horses and Thoroughbreds in Ireland, highlighting the importance of WFFS genetic testing in order to identify phenotypically normal heterozygous carriers and to prevent the birth of nonviable foals.
© 2021. The Author(s).
Publication Date: 2021-10-18 PubMed ID: 34663462PubMed Central: PMC8524838DOI: 10.1186/s13620-021-00206-1Google Scholar: Lookup
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- Journal Article
Summary
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The research investigates the prevalence of a gene mutation causing Warmblood Fragile Foal Syndrome (WFFS) in thoroughbred and sport horse populations in Ireland, highlighting the importance of pre-breeding genetic testing.
Introduction and Methodology
- The study was built around Warmblood Fragile Foal Syndrome (WFFS), a disorder prevalent in horses. This disorder is autosomal recessive in nature, implying that both parents must pass on the defective, or mutated gene, for a foal to be affected. The mutation in play is found in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene, which leads to a defect in collagen synthesis.
- Foals born with this mutation usually are non-viable or stillborn, displaying unique characteristics such as abnormally fragile skin. Although the mutation has been found in breeds outside of Warmbloods, only Warmblood foals have been reported in scientific literature as homozygously affected (carrying two copies of the mutation).
- The objective of the research was therefore to identify the frequency of this mutation in Thoroughbred and sport horse populations found in Ireland. A testing process was developed at the School of Veterinary Medicine in the University College Dublin, employing real-time PCR (Polymerase Chain Reaction) to multiply the PLOD1 gene variant responsible for the mutation. The research also cross-verified a subset of the samples with an external laboratory licensed for commercial WFFS genetic testing.
Results
- Genotyping was carried out on hair samples from 469 horses spanning six different breeds. Of these, six out of 303 sport horses (1.98%) and three out of 109 Thoroughbreds (2.75%) were found to be heterozygous carriers of the mutation, meaning they carry one healthy gene and one mutated gene which could potentially be passed to their offspring.
- The mutation was not found in the other horse breeds which were tested – Standardbred, Cob, Connemara, or pony breeds.
Conclusion
- The research highlighted a low frequency of WFFS in sport horses and Thoroughbreds in Ireland, nonetheless reinforcing the importance of genetic testing before breeding. This is significant to identify heterozygous carriers of the mutation, as they are phenotypically normal but their offspring could potentially inherit the mutation from both parents and consequently be affected by WFFS.
- Pre-breeding genetic testing can help prevent the birth of nonviable foals, assisting in the effective management of the horse population’s health and breeding strategies.
Cite This Article
APA
Rowe Á, Flanagan S, Barry G, Katz LM, Lane EA, Duggan V.
(2021).
Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in horses in Ireland.
Ir Vet J, 74(1), 27.
https://doi.org/10.1186/s13620-021-00206-1 Publication
Researcher Affiliations
- Veterinary Sciences Centre, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland. aine.rowe@ucd.ie.
- Veterinary Sciences Centre, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland.
- Veterinary Sciences Centre, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland.
- Veterinary Sciences Centre, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland.
- Animal Health Division, Department of Agriculture, Food and the Marine, Backweston Campus, Celbridge, Co. Kildare, W23 X3PH, Ireland.
- Veterinary Sciences Centre, School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland.
Conflict of Interest Statement
The authors have no competing interests.
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Citations
This article has been cited 1 times.- Ishikawa Y, Tufa SF, Keene DR, Bächinger HP, Winand NJ. Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation. MicroPubl Biol 2025;2025.
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