CanineHD 230 K BeadChip data from Pembroke Welsh corgi

Several hundred disease-causing mutations are currently known in domestic dogs. Breeding management is therefore required to minimize their spread. Recently, genetic methods such as direct-to-consumer testing have gained popularity; however, their effects on dog populations are unclear. Here, we aimed to evaluate the influence of genetic testing on the frequency of mutations responsible for canine degenerative myelopathy (DM) and assess the changes in the genetic structure of a Pembroke Welsh corgi population from Japan. To evaluate the influence of genetic testing on the frequency of mutations causing canine degenerative myelopathy and changes to genetic structure in the Pembroke Welsh corgi population from Japan, 117 dogs were genotyped. Weir and Cockerham population differentiation (FST) based on genome-wide single-nucleotide polymorphism (SNP) detected the SNP with the highest FST located in the intron of SOD1 adjacent to the c.118G>A mutation, supporting a selection signature on SOD1. Further genome-wide SNP analyses revealed no obvious changes in inbreeding levels between the 2019 and 2022 populations. Our study highlights that genetic testing can help inform improved mating choices in breeding programs to reduce the frequency of risk variants and avoid inbreeding.目前已在家犬中鉴定出数百种致病突变，因此需通过育种管理尽可能降低其传播风险。近年来，直接面向消费者的基因检测（direct-to-consumer testing）等遗传学方法愈发普及，但其对犬只种群的影响尚不明确。本研究旨在评估基因检测对犬退行性脊髓病（canine degenerative myelopathy, DM）致病突变频率的影响，并分析日本彭布罗克威尔士柯基犬种群的遗传结构变化。为达成上述研究目标，本研究对117只犬只进行了基因分型。基于全基因组单核苷酸多态性（single-nucleotide polymorphism, SNP）的韦尔-科克哈姆种群分化指数（FST）分析显示，FST值最高的SNP位于SOD1基因内含子中，紧邻c.118G>A突变位点，为SOD1基因存在选择特征提供了支持。进一步的全基因组SNP分析结果表明，2019年与2022年的种群近交水平未发生明显变化。本研究表明，基因检测可辅助优化育种计划中的配种选择，从而降低风险变异的频率并避免近交。