Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil.
Authors: Dias Natalia Moraes, de Andrade Danilo Giorgi Abranches, Teixeira-Neto Antônio Raphael, Trinque Camila Moreira, Oliveira-Filho José Paes de, Winand Nena J, Araújo João Pessoa, Borges Alexandre Secorun
Journal: Veterinary journal (London, England : 1997)
Summary
# Editorial Summary: WFFS Carrier Frequency in Brazilian Warmblood Populations Warmblood Fragile Foal Syndrome (WFFS) is a severe autosomal recessive condition affecting collagen synthesis through mutations in the PLOD1 gene, resulting in skin fragility, malformations, and foetal loss in affected neonates. Researchers screened 374 Brazilian Warmblood horses for the c.2032G>A SNP responsible for the condition, identifying carrier status and establishing baseline allele frequency data for the population. The findings revealed an 11% carrier rate (41 horses heterozygous) with an overall allelic frequency of 5.5%, meaning roughly one in nine breeding animals carries one mutant copy. Whilst no homozygous affected individuals were detected in this cohort, the carrier prevalence is sufficiently high to warrant systematic screening and informed breeding decisions to prevent the emergence of affected foals, particularly as the Warmblood gene pool continues to globalise through international trade and breeding programmes. For equine professionals involved in reproductive planning and stud management, these data underscore the value of genetic testing prior to breeding decisions and the importance of maintaining transparent carrier registries within breeding populations.
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Practical Takeaways
- •Warmblood breeders in Brazil should implement genetic screening for the PLOD1 c.2032G>A mutation to identify carrier animals and prevent breeding two carriers together, which would produce affected foals
- •With 11% carrier prevalence, the risk of affected foals (1 in 16 from two carrier matings) is significant enough to warrant pre-breeding testing protocols
- •Veterinarians should educate warmblood breeders about WFFS risk, recommend carrier screening before breeding decisions, and counsel on the clinical consequences of neonatal skin lesions and potential abortion losses
Key Findings
- •11% of 374 Brazilian Warmblood horses were heterozygous carriers for the WFFS SNP c.2032G>A
- •89% of tested horses were homozygous for the wild-type allele (N/N)
- •Allele frequency of the WFFS-causing mutation was 5.5% in the Brazilian Warmblood population
- •WFFS is an autosomal recessive disorder affecting collagen biosynthesis through PLOD1 gene mutation