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. 2025 Apr 21;15(1):13774.
doi: 10.1038/s41598-025-98029-5.

Genome-wide association analysis reveals insights into the genetic architecture of mesenteric torsion in pigs

Suelen Fernandes Padilha  1 , Rafaela Martins  1 , Ludmila Mudri Hul  2   3 , Luis Orlando Duitama Carreño  4 , Marcelo Silva de Freitas  4 , Jader Silva Lopes  4 , Adriana Mércia Guaratini Ibelli  2   5   6 , Jane de Oliveira Peixoto  2   5 , Marcos Antônio Zanella Morés  5 , Maurício Egídio Cantão  5 , Rodrigo de Almeida Teixeira  1 , Laila Talarico Dias  1 , Mônica Corrêa Ledur  7
Affiliations

Genome-wide association analysis reveals insights into the genetic architecture of mesenteric torsion in pigs

Suelen Fernandes Padilha et al. Sci Rep. .

Abstract

Mesenteric torsion (MT) is a condition that affects several animal species and can lead to the animals' death. However, little is known about its etiology. Therefore, this study aimed to identify genomic regions and candidate genes associated with MT. Phenotypic and genotypic data from 405 pigs, including MT records and genealogy were used. In the model, contemporary group (sex, year, and week of weaning) was considered fixed effect, the linear effect of weaning weight as a covariate, while direct additive genetic effect was random. In the genome-wide association study, genomic windows explaining more than 0.3% of the genetic variance were considered significant. Fifty-two significant windows were identified, covering 299 genes located on 15 chromosomes. The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility. These processes could induce intestinal malformations, dysbiosis, excessive fermentation, delay intestinal transit, and obstruction. Our findings contribute to understanding the mechanisms involved in the occurrence of MT in pigs and may help to elucidate the etiology of intestinal torsion/volvulus in other mammals, including humans.

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Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests. Ethics: The protocols and the use of animals for this research were approved by the Ethics Committee on Animal Use (CEUA) from the Embrapa Swine and Poultry National Research Center under the protocol # 002/2016. This study was carried out in compliance with the ARRIVE guidelines ( https://arriveguidelines.org ).

Figures

Fig. 1
Fig. 1
Manhattan plot of the percentage of genetic variation explained by 1-Mb windows for mesenteric torsion in pigs. The X axis represents the chromosomes and the Y axis shows the percentage of genetic variance explained by each window. The red line indicates the significance threshold (0.3% of the genetic variance explained, i.e., five times more than expected). The Manhattan plot was constructed with R software version 4.2.2 using the results from the POSTGSF90 package of the BLUPF90 program (Misztal et al.).
Fig. 2
Fig. 2
Superclusters of significant biological processes related to genes in the genomic windows associated with mesenteric torsion in pigs. The figure was constructed using REVIGO tool (Supek et al.).
Fig. 3
Fig. 3
Gene network constructed with genes located on the first ten genomic windows with the highest association with mesenteric torsion in pigs. Colored circles represent genes and lines represent the predicted interactions between genes. In blue, genes related to intestinal abnormalities that can trigger intestinal volvulus in humans. The gene network was constructed using Network Analyst platform (Zhou et al.).
Fig. 4
Fig. 4
Abdominal cavity of unaffected pig (a) and pig with mesenteric torsion (b).
See this image and copyright information in PMC

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