Genetic Link Across Species: SIX6, a Major Human Glaucoma Gene, Confers Susceptibility to Glaucoma in Shiba-Inu Dogs.

ABSTRACT:

Purpose

The SIX6 gene is a major susceptibility gene for human glaucoma, and its variants have been implicated in structural and functional alterations of the retina, such as nerve fiber layer thinning and retinal ganglion cell degeneration, which contribute to glaucoma development. This study investigated whether SIX6 polymorphisms are associated with glaucoma in dogs, focusing on the Shiba-Inu and Shih-Tzu breeds.

Methods

We genotyped 19 single nucleotide polymorphisms within the SIX6 gene region in 109 Shiba-Inus (49 cases and 60 controls) and 57 Shih-Tzus (18 cases and 39 controls), followed by association analyses. Comparative sequence analysis of canine and human SIX6 was performed to assess evolutionary conservation.

Results

In Shiba-Inus, rs851962234, located

SUBMITTER: Baba S 

PROVIDER: S-EPMC12786397 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature