Surveillance of a PLOD gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies.
Abstract: The Silesian horse is a heavy warmblood breed developed in Polish Silesia through the covering of local mares by East Frisian and Oldenburg stallions. Because of its historical significance and genetic heritage, the breed is part of a conservation programme in Poland. One of the genetic disorders of concern in warmblood horses is fragile foal syndrome (FFS), an autosomal recessive disease caused by a mutation in the gene (c.2032G>A). Affected foals either perish in late pregnancy or are born with severe connective tissue abnormalities, leading to early death. As carriers do not exhibit symptoms, genetic testing is crucial for responsible breeding. This study aimed to assess the prevalence of the mutation in the Silesian horse population. Unassigned: Samples of DNA from 284 breeding horses were analysed using PCR and restriction-fragment length polymorphism and validated by Sanger sequencing. Unassigned: The detected carrier frequency was 14.6%, an increase over previously reported carriage for this breed. Compared to other warmblood breeds, the carrier frequency in Silesian horses was higher than in Swedish Warmbloods, similar to the frequency in Hanoverians (14%) and also aligned with that in Oldenburg horses, from which Silesians historically derive. Unassigned: The results highlight the need for continued genetic monitoring and informed breeding strategies to prevent the spread of FFS in the Silesian horse population.
© 2025 Monika Stefaniuk-Szmukier et al.
Publication Date: 2025-10-27 PubMed ID: 41497457PubMed Central: PMC12767152DOI: 10.2478/jvetres-2025-0060Google Scholar: Lookup
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- Journal Article
Summary
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Objective Overview
- This study investigated the presence and frequency of a genetic mutation linked to fragile foal syndrome (FFS) in the Silesian horse breed in Poland, emphasizing the importance of genetic testing for breeding management and disease prevention.
Background
- Silesian horse breed: A heavy warmblood developed in Polish Silesia by crossing local mares with East Frisian and Oldenburg stallions.
- Conservation status: The breed has historical significance and is included in a conservation program in Poland to preserve genetic heritage.
- Fragile foal syndrome (FFS): An autosomal recessive disorder affecting connective tissue in foals, caused by a mutation in the PLOD1 gene (mutation c.2032G>A).
- Clinical impact of FFS: Affected foals either die before birth or are born with severe connective tissue defects resulting in early death.
- Carrier state: Horses that carry one copy of the mutation (heterozygotes) do not show symptoms but can pass the mutation to offspring.
- Importance of genetic testing: Since carriers are asymptomatic, genetic screening is critical for breeders to avoid producing affected foals.
Research Aim
- To evaluate the prevalence (carrier frequency) of the PLOD1 mutation causing FFS in the current Polish Silesian horse population.
Methods
- Sample collection: DNA samples were obtained from 284 breeding Silesian horses.
- Genetic analysis techniques:
- Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) analysis were used to detect the mutation.
- Sanger sequencing was employed to validate the PCR/RFLP results ensuring accuracy.
Findings
- Carrier frequency identified: 14.6% of the sampled Silesian horses were carriers of the FFS mutation.
- Comparison with other breeds:
- This frequency is higher than previously reported for the Silesian breed.
- Higher than Swedish Warmbloods.
- Similar to Hanoverians (around 14%).
- Comparable to Oldenburg horses, the historical ancestors of Silesian horses.
Implications
- The relatively high carrier frequency indicates the mutation is widespread in the breed’s population.
- Genetic monitoring must continue regularly to track and control the mutation’s prevalence.
- Breeding strategies need to incorporate genetic testing results to avoid mating two carriers, thereby reducing the risk of producing affected foals.
- Responsible breeding with awareness of carrier status is essential for the health, welfare, and preservation of the Silesian horse breed.
Conclusion
- This study underscores the critical role of genetic screening for the PLOD1 mutation in the conservation and breeding programs of Silesian horses.
- By implementing informed breeding decisions based on genetic test results, breeders can effectively manage and reduce fragile foal syndrome in this population, safeguarding future generations.
Cite This Article
APA
Stefaniuk-Szmukier M, Błaszczak A, Długosz B, Musiał A, Ropka-Molik K.
(2025).
Surveillance of a PLOD gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies.
J Vet Res, 69(4), 600-602.
https://doi.org/10.2478/jvetres-2025-0060 Publication
Researcher Affiliations
- Department of Animal Molecular Biology, Department of Farm Animal Biodiversity Conservation and Horse Breeding, National Research Institute of Animal Production, 32-083 Balice, Poland.
- Department of Farm Animal Biodiversity Conservation and Horse Breeding, National Research Institute of Animal Production, 32-083 Balice, Poland.
- Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Kraków, 30-059 Kraków, Poland.
- Department of Animal Molecular Biology, Department of Farm Animal Biodiversity Conservation and Horse Breeding, National Research Institute of Animal Production, 32-083 Balice, Poland.
- Department of Animal Molecular Biology, Department of Farm Animal Biodiversity Conservation and Horse Breeding, National Research Institute of Animal Production, 32-083 Balice, Poland.
Conflict of Interest Statement
Conflict of Interests Statement: The authors declare that there is no conflict of interests regarding the publication of this article.
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