Data from: Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

Knowledge on the genetic epidemiology of disorders in the dog population has implications for both veterinary medicine and sustainable breeding. Limited data on frequencies of genetic disease variants across breeds exists, and the disease heritage of mixed breed dogs remains poorly explored to date. Advances in genetic screening technologies now enable comprehensive investigations of the canine disease heritage, and generate health-related big data that can be turned into action. We pursued population screening of genetic variants implicated in Mendelian disorders in the largest canine study sample examined to date by examining around 83,000 mixed breed and 18,000 purebred dogs representing 330 breeds for 152 known variants using a custom-designed beadchip microarray. We further announce the creation of MyBreedData (www.mybreeddata.com), an online updated inherited disorder prevalence resource with its foundation in the generated data. We identified the most prevalent, and rare, disease susceptibility variants across the general dog population while providing the first extensive snapshot of the mixed breed disease heritage. Around 2 in 5 dogs carried at least one copy of a tested disease variant. Most disease variants are shared by both mixed breeds and purebreds, while breed- or line-specificity of others is strongly suggested. Mixed breed dogs were more likely to carry a common recessive disease, whereas purebreds were more likely to be genetically affected with one, providing DNA-based evidence for hybrid vigor. We discovered genetic presence of 22 disease variants in at least one additional breed in which they were previously undescribed. Some mutations likely manifest similarly independently of breed background; however, we emphasize the need for follow up investigations in each case and provide a suggested validation protocol for broader consideration. In conclusion, our study provides unique insight into genetic epidemiology of canine disease risk variants, and their relevance for veterinary medicine, breeding programs and animal welfare.犬群遗传性疾病的遗传流行病学研究成果，对兽医学与可持续育种均具有重要意义。当前，犬类各品种间遗传病变异频率的相关数据较为匮乏，且截至目前，混种犬（mixed breed dogs）的疾病遗传特征仍未得到充分探究。如今，基因筛查技术的进步使得我们能够全面探究犬类的疾病遗传特征，并生成可转化为实际应用的健康相关大数据。 本研究针对截至目前规模最大的犬类研究样本，开展了孟德尔遗传病（Mendelian disorders）相关遗传变异的群体筛查：借助定制化微球芯片微阵列（beadchip microarray），对涵盖330个品种的约83000只混种犬与18000只纯种犬的152种已知遗传变异进行了检测。我们还宣布创建了MyBreedData（www.mybreeddata.com）——一个基于本研究生成的数据、可在线更新的遗传性疾病患病率资源平台。 本研究明确了全球犬群中最常见与极罕见的疾病易感变异，同时首次全面呈现了混种犬的疾病遗传特征图谱。约五分之二的犬只携带至少一个被测疾病变异的等位基因拷贝。多数疾病变异在混种犬与纯种犬中均存在，而另有部分变异则呈现出显著的品种或品系特异性。混种犬更易携带常见隐性疾病的变异，而纯种犬则更易因该类变异出现遗传发病，这为杂种优势（hybrid vigor）提供了基于DNA的证据支持。我们在至少1个此前未报道过携带该变异的品种中，检测到了22种疾病变异的遗传存在性。部分突变的表型可能不受品种背景影响而呈现一致特征；但我们强调，需针对每一例变异开展后续验证研究，并提供了可供广泛参考的验证方案建议。 综上，本研究为犬类疾病风险变异的遗传流行病学研究提供了独特视角，并阐明了其在兽医学、育种计划以及动物福利领域的应用价值。