Long Yi, Su Ying, Ai Huashui, Zhang Zhiyan, Yang Bin, Ruan Guorong, Xiao Shijun, Liao Xinjun, Ren Jun, Huang Lusheng, Ding Nengshui
State Key Laboratory of Pig Genetic Improvement and Production Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Fujian Vocational College of Agriculture, Fuzhou, 360119, China.
Anim Genet. 2016 Jun;47(3):298-305. doi: 10.1111/age.12402. Epub 2016 Mar 30.
Umbilical hernia (UH) is one of the most common congenital defects in pigs, leading to considerable economic loss and serious animal welfare problems. To test whether copy number variations (CNVs) contribute to pig UH, we performed a case-control genome-wide CNV association study on 905 pigs from the Duroc, Landrace and Yorkshire breeds using the Porcine SNP60 BeadChip and penncnv algorithm. We first constructed a genomic map comprising 6193 CNVs that pertain to 737 CNV regions. Then, we identified eight CNVs significantly associated with the risk for UH in the three pig breeds. Six of seven significantly associated CNVs were validated using quantitative real-time PCR. Notably, a rare CNV (CNV14:13030843-13059455) encompassing the NUGGC gene was strongly associated with UH (permutation-corrected P = 0.0015) in Duroc pigs. This CNV occurred exclusively in seven Duroc UH-affected individuals. SNPs surrounding the CNV did not show association signals, indicating that rare CNVs may play an important role in complex pig diseases such as UH. The NUGGC gene has been implicated in human omphalocele and inguinal hernia. Our finding supports that CNVs, including the NUGGC CNV, contribute to the pathogenesis of pig UH.
脐疝（UH）是猪最常见的先天性缺陷之一，会导致相当大的经济损失和严重的动物福利问题。为了测试拷贝数变异（CNV）是否与猪脐疝有关，我们使用猪SNP60基因芯片和penncnv算法，对905头杜洛克、长白和约克夏品种的猪进行了病例对照全基因组CNV关联研究。我们首先构建了一个包含6193个CNV的基因组图谱，这些CNV属于737个CNV区域。然后，我们在这三个猪品种中鉴定出8个与脐疝风险显著相关的CNV。在7个显著相关的CNV中，有6个通过定量实时PCR得到了验证。值得注意的是，一个包含NUGGC基因的罕见CNV（CNV14:13030843 - 13059455）在杜洛克猪中与脐疝密切相关（置换校正P = 0.0015）。这个CNV仅出现在7头受脐疝影响的杜洛克猪个体中。该CNV周围的单核苷酸多态性（SNP）未显示出关联信号，这表明罕见CNV可能在诸如脐疝等复杂的猪病中起重要作用。NUGGC基因与人类脐膨出和腹股沟疝有关。我们的研究结果支持包括NUGGC CNV在内的CNV参与了猪脐疝的发病机制。
