2023, Wozniak, J., Loba, W., Iskrzak, P., Pszczoła, Marcin Jerzy, Wojtczak, Janusz, Świtoński, Marek, Nowacka-Woszuk, Joanna

AbstractUmbilical 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 theCAPN9,OSM,ITGAM, andNUGGCgenes. A case/control study design was applied in two different crossbred cohorts of commercial fatteners containing 412 and 171 pigs, respectively. SNPs withinCAPN9,OSM, andITGAMwere analyzed using Sanger sequencing, and 10 SNPs inCAPN9, five inOSM, and two inITGAMwere identified.A structural variant in theNUGGCgene 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 inCAPN9were detected. The haplotype analysis showed the effect on the risk of UH for two genes. The CAGGA haplotype withinOSMand AT haplotype inITGAMreduced 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 theCAPN9haplotype and the sex of animals had also significant impact on UH risk.

2025, Wozniak, Jakub, Szabelska-Beręsewicz, Alicja, Zyprych-Walczak, Joanna Grażyna, Niemyjski, Rafal, Dudek, Klaudia, Stachowiak, Monika, Nowacka-Woszuk, Joanna

Abstract Background Hernias, particularly umbilical hernias (UH), are prevalent anatomical anomalies in swine, leading to significant welfare issues and economic losses. Besides environmental factors also genetic components contribute to the development of UHs, though the exact mechanisms remain unclear. This study employed a multiple approaches integrating RNA-seq, DNA methylation analysis, Sanger sequencing, droplet digital PCR and western blot analysis to investigate the genetic and epigenetic underpinnings of UH in pigs. Muscle tissue from affected and control pigs was examined to identify differentially expressed genes (DEGs) and associated pathways. Results We found 59 significant DEGs, including SIM1 , PITX1 , HOXA7 , METTL21C , PVALB , ALX1 , EYA2 , and TBX1 . Interestingly, RNA-seq analysis of METTL21C revealed its significant upregulation in UH-affected pigs. This was corroborated by epigenetic analysis, which identified hypomethylation at four CpG sites in the METTL21C within potential regulatory region, aligning with increased mRNA levels. Furthermore, Sanger sequencing uncovered an SNP (rs330073569) in the METTL21C regulatory region, which was significantly associated with UH condition. This SNP can potentially alter transcription factor binding leading to enhanced METTL21C transcription, and putatively contributing to the gene’s increased expression in UH pigs. Conclusions This study highlights potential genetic and epigenetic factors in UH etiology. The most significant result suggests that METTL21C plays an important role in the development of UH. This finding makes this gene a promising candidate for further research aimed at better characterizing umbilical hernia in pigs and at potentially eliminating undesirable variants from the gene pool.

2022, Nowacka-Woszuk, Joanna, Dragan, Monika Maria, Szczerbal, Izabela, Szydłowski, Maciej, Szabelska-Beręsewicz, Alicja, Zyprych-Walczak, Joanna Grażyna, Krzeminska, Paulina, Nowak, Tomasz, Łukomska, Anna, Ligocka, Zuzanna, Biezynski, Janusz, Dzimira, Stanislaw, Nizanski, Wojciech, Świtoński, Marek