A confirmed association between DNA variants in CAPN9, OSM, and ITGAM candidate genes and the risk of umbilical hernia in pigs

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cris.virtualsource.author-orcid713c4db4-53f8-4862-ac61-6104db5e840c
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dc.abstract.enUmbilical hernia (UH) is one of the most prevalent defects of swine, affecting their welfare and causing considerable economic loss. The molecular mechanisms behind UH in pigs remain poorly understood. The aim of this study was to verify the association between UH and previously reported DNA variants in the CAPN9, OSM, ITGAM, and NUGGC genes. A case/control study design was applied in two different crossbred cohorts of commercial fatteners containing 412 and 171 pigs, respectively. SNPs within CAPN9, OSM, and ITGAM were analyzed using Sanger sequencing, and 10 SNPs in CAPN9, five in OSM, and two in ITGAM were identified. A structural variant in the NUGGC gene was studied by droplet-digital PCR, and an elevated copy number was detected in only a single individual. Significant differences in allele frequencies for four SNPs in CAPN9 were detected. The haplotype analysis showed the effect on the risk of UH for two genes. The CAGGA haplotype within OSM and AT haplotype in ITGAM reduced the relative risk of UH by 52% and 45%, respectively, confirming that variants in those genes are associated with the risk of UH in pigs. Moreover, the interaction between the CAPN9 haplotype and the sex of animals had also significant impact on UH risk.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.affiliation.instituteKatedra Hodowli Zwierząt i Oceny Surowców
dc.contributor.authorWozniak, J.
dc.contributor.authorLoba, W.
dc.contributor.authorIskrzak, P.
dc.contributor.authorPszczoła, Marcin Jerzy
dc.contributor.authorWojtczak, Janusz
dc.contributor.authorŚwitoński, Marek
dc.contributor.authorNowacka-Woszuk, Joanna
dc.date.access2025-05-30
dc.date.accessioned2025-09-02T10:51:08Z
dc.date.available2025-09-02T10:51:08Z
dc.date.copyright2023-02-22
dc.date.issued2023
dc.description.abstract<jats:title>Abstract</jats:title><jats:p>Umbilical hernia (UH) is one of the most prevalent defects of swine, affecting their welfare and causing considerable economic loss. The molecular mechanisms behind UH in pigs remain poorly understood. The aim of this study was to verify the association between UH and previously reported DNA variants in the<jats:italic>CAPN9</jats:italic>,<jats:italic>OSM</jats:italic>,<jats:italic>ITGAM</jats:italic>, and<jats:italic>NUGGC</jats:italic>genes. A case/control study design was applied in two different crossbred cohorts of commercial fatteners containing 412 and 171 pigs, respectively. SNPs within<jats:italic>CAPN9</jats:italic>,<jats:italic>OSM</jats:italic>, and<jats:italic>ITGAM</jats:italic>were analyzed using Sanger sequencing, and 10 SNPs in<jats:italic>CAPN9</jats:italic>, five in<jats:italic>OSM</jats:italic>, and two in<jats:italic>ITGAM</jats:italic>were identified<jats:italic>.</jats:italic>A structural variant in the<jats:italic>NUGGC</jats:italic>gene was studied by droplet‐digital PCR, and an elevated copy number was detected in only a single individual. Significant differences in allele frequencies for four SNPs in<jats:italic>CAPN9</jats:italic>were detected. The haplotype analysis showed the effect on the risk of UH for two genes. The CAGGA haplotype within<jats:italic>OSM</jats:italic>and AT haplotype in<jats:italic>ITGAM</jats:italic>reduced the relative risk of UH by 52% and 45%, respectively, confirming that variants in those genes are associated with the risk of UH in pigs. Moreover, the interaction between the<jats:italic>CAPN9</jats:italic>haplotype and the sex of animals had also significant impact on UH risk.</jats:p>
dc.description.accesstimeat_publication
dc.description.bibliographybibliogr., il.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if1,8
dc.description.number3
dc.description.points140
dc.description.versionfinal_published
dc.description.volume54
dc.identifier.doi10.1111/age.13307
dc.identifier.eissn1365-2052
dc.identifier.issn0268-9146
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/4587
dc.identifier.weblinkhttp://onlinelibrary.wiley.com/doi/full/10.1111/age.13307
dc.languageen
dc.relation.ispartofAnimal Genetics
dc.relation.pages307-314
dc.rightsCC-BY
dc.sciencecloudsend
dc.share.typeOTHER
dc.subject.enCNV
dc.subject.enhaplotype
dc.subject.enpig
dc.subject.enSNP
dc.subject.enstructural variant
dc.subject.enswine
dc.subject.enumbilical hernia
dc.titleA confirmed association between DNA variants in CAPN9, OSM, and ITGAM candidate genes and the risk of umbilical hernia in pigs
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue3
oaire.citation.volume54