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BMC GenomicsGeneticsPeer-reviewed journal article

Widespread genetic testing control inherited polycystic kidney disease in cats

Hisashi Ukawa, 木田 朱音, Kai Ataka, Ryo Horie, Yuki MatsumotoiD

PDFDOIPreprint

Abstract

A genetic variant of PKD1 in cats, which causes polycystic kidney disease (PKD), is a target for direct-to-consumer genetic testing to assess PKD risk; however, its effect on genetic structure in cat populations remains unexplored. Therefore, in this study, we aimed to examine the changes in feline PKD and the PKD1 variant across breeds and over time using a large dataset of 110,325 insured and 61,968 genetic-tested cats from 14 breeds. Results revealed that the PKD1 variant frequency significantly decreased, with a reduction of 42.6% before 2019 and after 2022. Systematic genomic analysis revealed no differences in genetic structure or inbreeding levels. The effective population size of cats with the PKD1 variant decreased between points. Overall, these findings highlight the potential of direct-to-consumer genetic testing in promoting more optimized breeding practices and enhancing feline welfare.

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