Getmantseva Lyubov, Kolosova Maria, Shevtsova Varvara, Kolosov Anatoly, Bakoev Faridun, Romanets Elena, Romanets Timofey, Bakoev Siroj
Biotechnological Faculty, Don State Agrarian University, Persianovsky 346493, Russia.
All Russian Research Institute of Animal Breeding, Lesnye Polyany 141212, Russia.
Animals (Basel). 2025 Apr 20;15(8):1178. doi: 10.3390/ani15081178.
The genetic mechanisms underlying the formation of defects, such as bumps and growths on the hock joints in pigs, remain poorly understood. Therefore, the aim of this study was to investigate the relationship between runs of homozygosity (ROH) and the formation of hock joint bumps, with the goal of identifying associated SNPs and candidate genes involved in these defects. The study was conducted on a population of Large White breed pigs (n = 568) using runs of homozygosity (ROH) analysis and genome-wide association studies (GWAS). The results suggested that the predisposition to hock joint bumps in pigs may have arisen due to recent selective breeding pressure. Using GWAS, 27 SNPs were identified at the suggestive significance level, with one SNP (rs325478346) reaching genome-wide significance. These markers are localized in genes associated with various biological processes, including lipid metabolism ( and ), inflammatory processes ( and ), connective tissue structural integrity (), muscle regeneration (), and ion exchange and cellular homeostasis ( and ), as well as regulation of cell growth, extracellular matrix remodeling, and fibroblast differentiation ( and ). Further research utilizing omics technologies will provide deeper insights into the pathogenesis of hock joint bumps and contribute to the development of strategies for the prevention and potential treatment of this defect.
猪跗关节上诸如肿块和赘生物等缺陷形成背后的遗传机制仍知之甚少。因此,本研究的目的是调查纯合子连续片段(ROH)与跗关节肿块形成之间的关系,以确定与这些缺陷相关的单核苷酸多态性(SNP)和候选基因。本研究使用纯合子连续片段(ROH)分析和全基因组关联研究(GWAS)对大白猪群体(n = 568)进行。结果表明,猪跗关节肿块的易感性可能是由于近期的选择性育种压力所致。使用GWAS,在提示性显著水平上鉴定出27个SNP,其中一个SNP(rs325478346)达到全基因组显著性。这些标记定位于与各种生物学过程相关的基因中,包括脂质代谢(和)、炎症过程(和)、结缔组织结构完整性()、肌肉再生()以及离子交换和细胞稳态(和),还有细胞生长调节、细胞外基质重塑和成纤维细胞分化(和)。利用组学技术的进一步研究将为跗关节肿块的发病机制提供更深入的见解,并有助于制定预防和潜在治疗这种缺陷的策略。