EXPRESS: Prevalence of the AIM exon 3 duplication variant, a putative biomarker associated with progression of kidney disease, in 1,000 cats.

AIM exon 3 duplication is common in cats; nearly one-in-five are homozygous carriers.

This study investigated the prevalence of an AIM gene exon 3 duplication variant in domestic cats using a large population sample. The AIM protein facilitates waste clearance from kidney tubules, and the duplication produces a four-domain variant associated with increased chronic kidney disease risk. Genomic DNA from 1,000 client-owned cats was analyzed via droplet digital PCR for copy number variation. Results showed 34.0% were homozygous wild-type (CNV2), 46.7% heterozygous (CNV3), and 19.3% homozygous for the variant (CNV4). Notably, approximately one in five cats carried two copies of the variant allele, while nearly half harbored one copy. The variant was not breed-specific and appeared distributed across the general cat population. Genotype frequencies deviated from Hardy-Weinberg equilibrium, suggesting potential selective pressures or population substructure. These findings establish this genetic alteration as relatively common in domestic cats and justify further research into global allele distributions, breed predispositions, and the variant's role in feline kidney disease pathogenesis.

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