The genetic background of hernia in pigs: A review

Nowacka‐Woszuk, Joanna

doi:10.1016/j.livsci.2020.104317

Cited by 4 publications

(5 citation statements)

References 33 publications

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“…There have been previous attempts to find the genetic background of UH, which have included examining SNPs and CNVs as markers associated with this condition (Nowacka‐Woszuk, 2021). In the present case/control study, we examined the distribution of SNPs variants in CAPN9 , OSM , and ITGAM , as well as CNV in the NUGGC gene.…”

Section: Discussionmentioning

confidence: 99%

A confirmed association betweenDNAvariants inCAPN9,OSM, andITGAMcandidate genes and the risk of umbilical hernia in pigs

Wozniak

Loba

Iskrzak³

et al. 2023

Animal Genetics

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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 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.

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Section: Discussionmentioning

confidence: 99%

A confirmed association betweenDNAvariants inCAPN9,OSM, andITGAMcandidate genes and the risk of umbilical hernia in pigs

Wozniak

Loba

Iskrzak³

et al. 2023

Animal Genetics

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“…Information on the background of porcine hernia remains scarce [16]. Much effort has been put into identifying genetic variants that predispose to hernia development [5,6,8,15,18,19,26], but the polygenic nature of this condition has made such studies challenging.…”

Section: Discussionmentioning

confidence: 99%

“…They also suffer from pain, which increases morbidity and mortality [15]. Hernia is thus a severe problem for both breeders and veterinarians [16].…”

Section: Introductionmentioning

confidence: 99%

“…Although several studies have focused on identifying the genetic markers associated with hernia (reviewed, e.g., by [16,17]), the molecular mechanism responsible for this disorder in pigs remains poorly understood [5,8,15,18,19]. Recent studies have used transcriptome analysis to highlight several genes as strong candidates which correlated with the occurrence of umbilical hernia [6].…”

Section: Introductionmentioning

confidence: 99%

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Altered Transcript Levels of MMP13 and VIT Genes in the Muscle and Connective Tissue of Pigs with Umbilical Hernia

Wozniak,

Loba,

Wysocka

et al. 2023

Genes

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Umbilical hernia (UH) and inguinal hernia (IH) are among the most common defects in pigs, affecting their welfare and resulting in economic losses. In this study, we aimed to verify the association of previously reported differences in transcript levels of the ACAN, COL6A5, MMP13, and VIT genes with the occurrence of UH and IH. We examined mRNA levels in muscle and connective tissue from 68 animals—34 affected by UH and 34 controls. In a second cohort, we examined inguinal channel samples from 46 pigs (in four groups). We determined DNA methylation levels in muscle tissue for the UH and control animals. The transcript level of MMP13 changed in the UH cases, being upregulated and downregulated in muscle and connective tissue, respectively, and the VIT gene also showed an increased muscular mRNA level. The transcript of the ACAN gene significantly decreased in old pigs with IH. We further observed an increased DNA methylation level for one CpG site within the MMP13 gene in UH individuals. We conclude that these alterations in gene mRNA levels in the UH animals depend on the tissue and can sometimes be a consequence of, not a cause of, the affected phenotype.

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“…In consequence, the intestines protrude through the abdominal wall to form the herniary sac [ 4 ]. Moreover, the involvement of collagen production and metabolism in hernia development was previously identified as described in a recent review by Nowacka-Woszuk [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

A joint analysis using exome and transcriptome data identifies candidate polymorphisms and genes involved with umbilical hernia in pigs

et al. 2021

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Background Umbilical Hernia (UH) is characterized by the passage of part of the intestine through the umbilical canal forming the herniary sac. There are several potential causes that can lead to the umbilical hernia such as bacterial infections, management conditions and genetic factors. Since the genetic components involved with UH are poorly understood, this study aimed to identify polymorphisms and genes associated with the manifestation of umbilical hernia in pigs using exome and transcriptome sequencing in a case and control design. Results In the exome sequencing, 119 variants located in 58 genes were identified differing between normal and UH-affected pigs, and in the umbilical ring transcriptome, 46 variants were identified, located in 27 genes. Comparing the two methodologies, we obtained 34 concordant variants between the exome and transcriptome analyses, which were located in 17 genes, distributed in 64 biological processes (BP). Among the BP involved with UH it is possible to highlight cell adhesion, cell junction regulation, embryonic morphogenesis, ion transport, muscle contraction, within others. Conclusions We have generated the first exome sequencing related to normal and umbilical hernia-affected pigs, which allowed us to identify several variants possibly involved with this disorder. Many of those variants present in the DNA were confirmed with the RNA-Seq results. The combination of both exome and transcriptome sequencing approaches allowed us to better understand the complex molecular mechanisms underlying UH in pigs and possibly in other mammals, including humans. Some variants found in genes and other regulatory regions are highlighted as strong candidates to the development of UH in pigs and should be further investigated.

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The genetic background of hernia in pigs: A review

Cited by 4 publications

References 33 publications

A confirmed association betweenDNAvariants inCAPN9,OSM, andITGAMcandidate genes and the risk of umbilical hernia in pigs

A confirmed association betweenDNAvariants inCAPN9,OSM, andITGAMcandidate genes and the risk of umbilical hernia in pigs

Altered Transcript Levels of MMP13 and VIT Genes in the Muscle and Connective Tissue of Pigs with Umbilical Hernia

A joint analysis using exome and transcriptome data identifies candidate polymorphisms and genes involved with umbilical hernia in pigs

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