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GWAS studies highlight three new genes linked to glaucoma, including PLEKHA7, a gene with a putative role in the barrier function of epithelial cells

In late 2012 research by an international consortium of scientists from Asia showed that three new genes appeared to associate with primary angle closure glaucoma (PACG), a significant cause of blindness worldwide. The original research, published in the journal Nature Genetics, reported a genome wide association study that included 3,771 PACG patients and 18,551 controls recruited across Singapore, Hong Kong, Malaysia, India and Vietnam. The authors of the research suggested that their findings might provide an improved understanding of the genetic mechanisms responsible for individual susceptibility to PACG. Follow up research on these findings has shown that one of the GWAS reported genes, PLEKHA7, appears to be expressed in the muscles, vascular endothelium, and epithelium of the iris, ciliary body and ciliary processes, trabecular meshwork (TM), and choroid. PLEKHA7 co-localization at these sites was seen with adherens junction markers (E-cadherin and beta-catenin) and tight junction markers (ZO-1), suggesting a potential role for PLEKHA7 in PACG via fluidic regulation.