Evidence map›Paper›PMID 35062868›Full record

ArticleGenetics, selection, evolution : GSE2022

Performance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects.

Michela Ablondi, Martin Johnsson, Susanne Eriksson, Alberto Sabbioni, Åsa Gelinder Viklund, Sofia Mikko

Abstract read
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Article in Genetics, selection, evolution : GSE, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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0cells of the map it votes in
3citing papers in PubMed
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1 · What the graph read from it

What it found

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Surveillance of aJournal of veterinary research · 2025
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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Michela Ablondi *Department of Veterinary Science, Università degli Studi di Parma, 43126, Parma, Italy.
Martin Johnsson *Dept. of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, PO Box 7023, S-750 07, Uppsala, Sweden.
Susanne ErikssonDept. of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, PO Box 7023, S-750 07, Uppsala, Sweden.
Alberto SabbioniDepartment of Veterinary Science, Università degli Studi di Parma, 43126, Parma, Italy.
Åsa Gelinder Viklund *Dept. of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, PO Box 7023, S-750 07, Uppsala, Sweden.
Sofia Mikko *Dept. of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, PO Box 7023, S-750 07, Uppsala, Sweden. sofia.mikko@slu.se.ORCID http://orcid.org/0000-0002-6375-1376

Funding

Svenska Forskningsrådet Formas 2020-01333Swedish-Norwegian Foundation for Equine Research H1147215Swedish-Norwegian Foundation for Equine Research H1847406
6 · The paper itself

Abstract

backgroundWarmblood fragile foal syndrome (WFFS) is a monogenetic defect caused by a recessive lethal missense point mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene (PLOD1, c.2032G>A). The majority of homozygous WFFS horses are aborted during gestation. Clinical signs of affected horses include fragile skin, skin and mucosa lacerations, hyperextension of the articulations, and hematomas. In spite of its harmful effect, a relatively high frequency of WFFS carriers has been found in Warmblood horses, suggesting a heterozygote advantage. Thus, in this study our aims were to: (1) estimate the frequency of WFFS carriers in the Swedish Warmblood breed (SWB), (2) estimate the effect of WFFS carrier genotype on performance traits in two SWB subpopulations bred for different disciplines, and (3) simulate the potential effects of balancing selection and different selection strategies on the frequency of carriers.

methodsIn total, 2288 SWB sport horses born between 1971 and 2020 were tested for the WFFS mutation and had estimated breeding values (EBV) for ten traditional evaluating and 50 linear descriptive traits.

resultsThe frequency of WFFS carriers calculated from a pool of 511 randomly selected SWB horses born in 2017 was equal to 7.4% and ranged from 0.0 to 12.0% among the whole set of tested SWB horses, starting from 1971 till 2020. The effect of the WFFS carrier genotype was significant for several EBV mainly related to movements and dressage traits and especially for horses not bred for the show jumping discipline. Using simulation, we showed that balancing selection can maintain a recessive lethal allele in populations such as the SWB breed over generations and that the frequency is expected to slowly decrease in absence of balancing selection. Finally, we showed that selection against carrier sires can result in a more rapid decrease of the frequency of the mutant allele over time.

conclusionFurther research is needed to confirm the apparent association between equine performance and the WFFS carrier genotype. Identification of such associations or new causative mutations for horse performance traits can serve as new tools in horse breeding to select for healthy, sustainable, and better performing horses.

Indexed as

HomozygoteAllelesAnimalsGenotypeHorsesMutationSweden

Identifiers

PMID35062868
PMCPMC8783495

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.