全基因组关联研究揭示大白猪两性畸形和无肛门症的遗传机制。

Genome-Wide Association Study Reveals Genetic Mechanisms Underlying Intersex and Aproctia in Large White Pigs.

作者信息

Li Yajun, Shi Jiaxin, Yang Yingshan, Ruan Donglin, Wu Jie, Lin Danyang, Liao Zihao, Hong Xinrun, Zhou Fuchen, Liu Langqing, Yang Jie, Yang Ming, Zheng Enqin, Wu Zhenfang, Cai Gengyuan, Zhang Zebin

机构信息

State Key Laboratory of Swine and Poultry Breeding Industry, National Engineering Research Center for Breeding Swine Industry, State Regional Livestock and Poultry Genebank, Guangdong Genebank of Livestock and Poultry, College of Animal Science, South China Agricultural University, Guangzhou 510642, China.

Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, South China Agricultural University, Guangzhou 510642, China.

出版信息

Animals (Basel). 2025 Apr 10;15(8):1094. doi: 10.3390/ani15081094.

DOI:10.3390/ani15081094

PMID:40281928

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12024236/

Abstract

Congenital developmental abnormalities in piglets, such as intersex and aproctia, adversely affect survival rates, growth performance, and genetic breeding efficiency in pig populations. To elucidate their genetic basis, we performed a genome-wide association study (GWAS) on 1030 Large White pigs. We combined 50 K SNP chip data with SWIM-based genotype imputation to enhance the resolution of genetic variation detection, followed by MLM analysis. Our results identified 53 significant SNPs, with 52 associated with intersex and 1 with aproctia. Key candidate genes included MAD1L1, ID4, EFNA5, and PPP1R16B for intersex and ARNT2 for aproctia. Functional enrichment analysis highlighted pathways related to gonadal development (e.g., progesterone-mediated oocyte maturation) and embryonic morphogenesis. Collectively, the identification of these SNPs and candidate genes advances our understanding of the genetic architecture of intersex and aproctia in piglets. These findings provide actionable insights for optimizing genetic breeding strategies and improving health management in Large White pig production, with potential implications for reducing economic losses caused by congenital disorders.

摘要

仔猪的先天性发育异常，如雌雄间性和无肛门，会对猪群的存活率、生长性能和遗传育种效率产生不利影响。为了阐明其遗传基础，我们对1030头大白猪进行了全基因组关联研究（GWAS）。我们将50K SNP芯片数据与基于SWIM的基因型填充相结合，以提高遗传变异检测的分辨率，随后进行MLM分析。我们的结果鉴定出53个显著的SNP，其中52个与雌雄间性相关，1个与无肛门相关。关键候选基因包括与雌雄间性相关的MAD1L1、ID4、EFNA5和PPP1R16B，以及与无肛门相关的ARNT2。功能富集分析突出了与性腺发育（如孕酮介导的卵母细胞成熟）和胚胎形态发生相关的途径。总体而言，这些SNP和候选基因的鉴定推进了我们对仔猪雌雄间性和无肛门遗传结构的理解。这些发现为优化大白猪生产中的遗传育种策略和改善健康管理提供了可操作的见解，对减少先天性疾病造成的经济损失具有潜在意义。