Studies of mice with a large deletion of the ARPKD-associated Pkhd1 locus likely explain its GWAS association with glaucoma in humans
Yu Ishimoto, Luís F. Menezes, Nakaya Naoki, Karla Barbosa-Sabanero, Yukihiro Horie, Teruhiko Yoshida, Jeff M. Reece, Fang Zhou, Stanislav I. Tomarev, Laura Kerosuo, Gregory George Germino
The paper shows that a Pkhd1 deletion in mice causes glaucoma by disrupting Tfap2b expression, linking PKHD1 SNPs to human glaucoma.
bioRxiv · Feb 17, 2026 · PreprintGenetics