Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America.
Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
PLoS Genet. 2022 Jun 16;18(6):e1009804. doi: 10.1371/journal.pgen.1009804. eCollection 2022 Jun.
In the largest DNA-based study of domestic cats to date, 11,036 individuals (10,419 pedigreed cats and 617 non-pedigreed cats) were genotyped via commercial panel testing elucidating the distribution and frequency of known disease, blood type, and physical trait associated genetic variants across cat breeds. This study provides allele frequencies for many disease-associated variants for the first time and provides updates on previously reported information with evidence suggesting that DNA testing has been effectively used to reduce disease associated variants within certain pedigreed cat populations over time. We identified 13 disease-associated variants in 47 breeds or breed types in which the variant had not previously been documented, highlighting the relevance of comprehensive genetic screening across breeds. Three disease-associated variants were discovered in non-pedigreed cats only. To investigate the causality of nine disease-associated variants in cats of different breed backgrounds our veterinarians conducted owner interviews, reviewed clinical records, and invited cats to have follow-up clinical examinations. Additionally, genetic variants determining blood types A, B and AB, which are relevant clinically and in cat breeding, were genotyped. Appearance-associated genetic variation in all cats is also discussed. Lastly, genome-wide SNP heterozygosity levels were calculated to obtain a comparable measure of the genetic diversity in different cat breeds. This study represents the first comprehensive exploration of informative Mendelian variants in felines by screening over 10,000 pedigreed cats. The results qualitatively contribute to the understanding of feline variant heritage and genetic diversity and demonstrate the clinical utility and importance of such information in supporting breeding programs and the research community. The work also highlights the crucial commitment of pedigreed cat breeders and registries in supporting the establishment of large genomic databases, that when combined with phenotype information can advance scientific understanding and provide insights that can be applied to improve the health and welfare of cats.
在迄今为止最大的基于 DNA 的家猫研究中，对 11036 只个体（10419 只纯种猫和 617 只非纯种猫）进行了商业面板测试，以阐明已知疾病、血型和与身体特征相关的遗传变异在猫品种中的分布和频率。本研究首次提供了许多与疾病相关的变异等位基因频率，并提供了以前报告信息的更新，有证据表明，随着时间的推移，DNA 测试已有效地用于减少某些纯种猫种群中与疾病相关的变异。我们在 47 个品种或品种类型中发现了 13 个与疾病相关的变异，其中以前没有记录到该变异，这突出了在不同品种中进行全面遗传筛查的相关性。在非纯种猫中仅发现了 3 个与疾病相关的变异。为了调查不同品种猫中 9 个与疾病相关的变异的因果关系，我们的兽医进行了主人访谈、审查了临床记录，并邀请了猫进行后续的临床检查。此外，还对决定血型 A、B 和 AB 的遗传变异进行了基因分型，这些血型在临床上和猫的繁殖中都很重要。还讨论了所有猫的外貌相关遗传变异。最后，计算了全基因组 SNP 杂合度水平，以获得不同猫品种遗传多样性的可比衡量标准。本研究代表了通过筛选超过 10000 只纯种猫对猫的信息性孟德尔变异进行的首次全面探索。研究结果从定性上有助于了解猫的变异遗传和遗传多样性，并证明了此类信息在支持繁殖计划和研究界中的临床实用性和重要性。该研究还强调了纯种猫饲养者和登记处支持建立大型基因组数据库的关键承诺，当与表型信息相结合时，这可以促进科学理解并提供可以应用于改善猫健康和福利的见解。
