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Equine veterinary journal2020; 53(1); 51-59; doi: 10.1111/evj.13271

Hanoverian F/W-line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses.

Abstract: Warmblood fragile foal syndrome (WFFS) is a lethal condition detected in Warmblood horses. Its origin and association with performance traits and fertility among horse populations is unknown. Objective: To validate the previously identified WFFS type 1 (WFFST1)-associated missense variant PLOD1:c.2032G>A and to investigate its distribution among various horses with particular focus on Hanoverian breed, as well as its pathomorphological picture. The study aimed at identifying the origin of the mutant allele and its correlation with performance and fertility traits in Warmblood horses. Methods: Retrospective case-control and association study. Methods: WFFST1 variant was validated using whole genome sequencing (WGS) in 78 equids. In an affected foal with a homozygous mutant genotype, necropsy was performed. Skin samples were examined using histology and transmission electron microscopy. Pathway analysis was performed to trace back 81 genetic carriers to the most common recent ancestor. Furthermore, generalised linear model analysis was employed to test estimated breeding values (EBVs) for differences in performance and fertility traits among different genotypes in Hanoverian horses. Results: WFFST1 variant had the lowest minor allele frequency among all variants detected in WGS data in the region of PLOD1. Further genotyping of this variant revealed allele frequencies of 0.14 in Hanoverian horses. Histological investigations of the WFFST1-affected foal showed loosely arranged collagen fibres in the dermis. Ultrastructurally, multifocal areas with degraded collagen fibrils and fibrillar plaques were detected. Further pathway analysis revealed a stallion from the Hanoverian sire F/W line as the most common recent ancestor of all tested genetic carriers. Furthermore, WFFST1 variant was found to be correlated with EBVs for gait-related traits as well as conformation and dressage. Conclusions: Study evaluated carriers and cases only from Europe. Conclusions: This study provides a comprehensive evaluation of WFFST1 variant and traces it back to its potential origin.
© 2020 The Authors. Equine Veterinary Journal published by John Wiley & Sons Ltd on behalf of EVJ Ltd.
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Publication Date: 2020-05-19 PubMed ID: 32323341DOI: 10.1111/evj.13271Google 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.

The research paper explores the lethal Warmblood fragile foal syndrome (WFFS) in Warmblood horses, discovering its correlation with a specific genetic variant and its distribution among the Hanoverian breed. The report also describes the origin and impact of the mutant allele on performance and fertility traits in these horses.

Objective of the study

  • The study aimed to validate the previously identified WFFS type 1 (WFFST1)-associated mutation (PLOD1:c.2032G>A) and analyse its distribution in the Warmblood breed, focusing on the Hanoverian breed.
  • It further sought to unearth the origin of the mutant allele and assess its correlation with the horses’ performance and fertility traits.

Research Methodology

  • 78 equids underwent whole genome sequencing (WGS) to validate the WFFST1 variant.
  • A necropsy was performed on an affected foal with a homozygous mutant genotype.
  • Skin samples were examined using histology and transmission electron microscopy.
  • Pathway analysis traced the 81 genetic carriers back to the most common recent ancestor, identifying the mutant allele’s potential origin.
  • The estimated breeding values (EBVs) were tested for differences in performance and fertility traits among varying genotypes in Hanoverian horses, using a generalised linear model analysis.

Results of the Research

  • The WFFST1 variant was found to have the lowest minor allele frequency among all the variants in the PLOD1 region detected in the WGS data.
  • Genotyping of this variant showed a 0.14 allele frequency in Hanoverian horses.
  • Histological studies of the affected foal revealed loosely arranged collagen fibers in the dermis, with degraded collagen fibrils and fibrillar plaques in multifocal areas being detected ultrastructurally.
  • The pathway analysis traced a stallion from the Hanoverian sire F/W line as the most common recent ancestor of all tested genetic carriers, indicating the possible origin of the mutant allele.
  • The WFFST1 variant was interconnected with the EBVs for traits relating to gait, conformation, and dressage.

Conclusion of the study

  • The study carried out an in-depth analysis of the WFFST1 variant, tracing it back to its possible origin.
  • The research limited its evaluation to carriers and cases only from Europe.

Cite This Article

APA
Metzger J, Kreft O, Sieme H, Martinsson G, Reineking W, Hewicker-Trautwein M, Distl O. (2020). Hanoverian F/W-line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses. Equine Vet J, 53(1), 51-59. https://doi.org/10.1111/evj.13271

Publication

Equine veterinary journal
ISSN: 2042-3306
NlmUniqueID: 0173320
Country: United States
Language: English
Volume: 53
Issue: 1
Pages: 51-59

Researcher Affiliations

Metzger, Julia
  • Institute of Animal Breeding and Genetics, University of Veterinary Medicine, Hannover, Germany.
Kreft, Oliver
  • ServuSoft GmbH, Hannover, Germany.
Sieme, Harald
  • Unit of Reproductive Medicine of the Clinics, University of Veterinary Medicine, Hannover, Germany.
Martinsson, Gunilla
  • State Stud Celle of Lower Saxony, Celle, Germany.
Reineking, Wencke
  • Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.
Hewicker-Trautwein, Marion
  • Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.
Distl, Ottmar
  • Institute of Animal Breeding and Genetics, University of Veterinary Medicine, Hannover, Germany.

MeSH Terms

  • Animals
  • Breeding
  • Europe
  • Genotype
  • Homozygote
  • Horses / genetics
  • Male
  • Retrospective Studies

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Citations

This article has been cited 10 times.
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