Large, diverse genetic study of glaucoma implicates vascular and cancer-related genes      

Key Takeaways

• Researchers have discovered new gene locations associated with primary open-angle glaucoma (POAG).
• The findings detail ancestry- and sex-specific gene locations associated with POAG and implicate vascular and cancer-related genes in POAG risk. 

An international genetic study using multiancestry biobanks has identified novel genetic locations associated with primary open-angle glaucoma (POAG), the most common type of glaucoma and the leading cause of irreversible blindness globally. The findings, published in Cell Reports Medicine, detail ancestry- and sex-specific genetic loci associated with POAG and implicate vascular and cancer-related genes in POAG risk. (Genetic loci are the specific physical locations of genes on a chromosome, somewhat like a street address.) Overall, the study identified 17 novel genetic loci associated with POAG, five of which were specific to certain ancestries. “The combined dataset represents the largest and most diverse POAG study to date with almost 1.5 million individuals and 46,235 POAG cases,” said Jibril Hirbo, Ph.D., research assistant professor of Medicine in the Division of Genetic Medicine at Vanderbilt University Medical Center and the corresponding author of the new study.

Further analysis of the new loci implicated vascular and cancer genes in POAG risk, the researchers noted. In particular, 20% of the associated genes were related to primary cilia, a structure on the surface of many vertebrate cells involved in cell proliferation and signaling. “Investigating mechanisms that influence primary cilia functionality will contribute to understanding the role of this structure in the pathogenesis of glaucoma and point to new therapeutic targets and strategies,” Hirbo said.

Edited by Dawn Wilcox, BSN, RN and Miriam Kaplan, PhD.

Source: Vanderbilt University Medical Center, Medical Xpress, February 20, 2024; see source article