April 20, 2024
A New Genetic Study Reveals Insights into Glaucoma Risk Factors

A New Genetic Study Reveals Insights into Glaucoma Risk Factors

A recent multinational genetic study, using data from various biobanks representing diverse ancestries, has shed light on the genetic underpinnings of primary open-angle glaucoma (POAG), the most common form of the disease leading to irreversible blindness globally. Published in Cell Reports Medicine, the study identified genetic loci linked to POAG, highlighting the involvement of vascular and cancer-related genes in glaucoma risk.

Dr. Jibril Hirbo, the research assistant professor of Medicine at Vanderbilt University Medical Center and the lead author of the study, emphasized the need to understand the genetic mechanisms driving differences in POAG prevalence across ethnicities and genders. The study, which drew from 15 biobanks worldwide, revealed 62 genetic risk loci, including six novel ones, associated with POAG.

Glaucoma affects over 3 million Americans, with some racial and ethnic groups, notably Black Americans, being at a higher risk. Factors like intraocular pressure, age, family history of the disease, and conditions such as diabetes and high blood pressure contribute to glaucoma risk. The study involving more than 1.5 million individuals identified 17 new genetic loci related to POAG, with some specific to certain ancestries.

By analyzing publicly available data, the researchers implicated vascular and cancer genes in POAG risk, with a notable association with primary cilia genes. Understanding the functional roles of these genes could offer new insights into glaucoma pathogenesis and lead to the development of novel therapeutic strategies.

Dr. Hirbo highlighted the importance of diversifying study participants to enhance the transferability of findings and promote health equity in research. Co-author Dr. Karen Joos, an ophthalmologist, expressed optimism about the ongoing international collaboration and the potential for future discoveries in glaucoma research.

The study marks a significant step towards unraveling the complex genetic landscape of glaucoma and paves the way for exploring new treatment avenues for this debilitating eye disease.

1. Source: Coherent Market Insights, Public sources, Desk research
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