Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education and College of Animal Science and Technology, Huazhong Agricultural University, Wuhan, China.
Key Laboratory of Swine Genetics and Breeding, Ministry of Agriculture, Huazhong Agricultural University, Wuhan, China.
Anim Genet. 2023 Dec;54(6):798-802. doi: 10.1111/age.13347. Epub 2023 Sep 13.
Umbilical hernia (UH) is a prevalent congenital disorder in pigs, resulting in considerable economic losses and severe animal welfare issues. In the present study, we conducted a genome-wide association study (GWAS) using the GeneSeek 50K Chip in 2777 pigs (Duroc, n = 1267; Landrace, n = 696; and Yorkshire, n = 814) to explore the candidate genes underlying the risk of umbilical hernia in pigs. After quality control analyses, 2748 animals and 48 524 single nucleotide polymorphisms (SNPs) were retained for subsequent GWAS analysis using the FarmCPU model. The heritability of umbilical hernias was estimated to 0.51 ± 0.04, indicating a reasonable basis for investigating genetic markers associated with this disorder. We identified 54 SNPs and 517 candidate genes that showed significant associations with susceptibility to umbilical hernia across the combined population of the three pig breeds. Gene enrichment analyses highlighted several crucial pathways for platelet degranulation, inflammatory mediator regulation of TRP channels and ion transport. These findings provide further insights into the underlying genetic architecture of umbilical hernias in pigs.
脐疝（UH）是猪的一种常见先天性疾病，导致了巨大的经济损失和严重的动物福利问题。在本研究中，我们使用 GeneSeek 50K 芯片在 2777 头猪（杜洛克猪，n=1267；长白猪，n=696；约克夏猪，n=814）中进行了全基因组关联研究（GWAS），以探索猪脐疝风险的候选基因。经过质量控制分析，保留了 2748 头动物和 48524 个单核苷酸多态性（SNP），用于后续使用 FarmCPU 模型进行 GWAS 分析。脐疝的遗传力估计为 0.51±0.04，表明调查与该疾病相关的遗传标记具有合理的基础。我们在三个猪品种的混合群体中鉴定出 54 个 SNP 和 517 个候选基因，这些 SNP 和候选基因与脐疝易感性显著相关。基因富集分析强调了血小板脱颗粒、TRP 通道和离子转运的炎症介质调节等几个关键途径。这些发现为猪脐疝的潜在遗传结构提供了更深入的了解。
