Genetic Link Between Corneal Thickness and Risk of Glaucoma

MedicalResearch.com Interview with:

Eldon E. Geisert, PhD Professor of Ophthalmology Emory School of Medicine

Dr. Geisert

Eldon E. Geisert, PhD
Professor of Ophthalmology
Emory School of Medicine

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: In the late 1990s a group of doctors began a study of glaucoma patients to determine if there were phenotypes that are predictive for developing glaucoma.

In this Ocular Hypertension Treatment Study (OHTS) one of the highly correlated ocular traits was central corneal thickness (CCT). The early clinical studies found that people with thinner corneas were at a higher risk of developing glaucoma. In two large studies, examining thousands of people a number of genes were identified that were risk factors for glaucoma or that controlled CCT in humans. In both cases the identified genes accounted for less than 10% of the genetic risk for glaucoma and less than for 10% of the genetic control for CCT. There was little data linking the genetic control of CCT to the glaucoma risk.

Our group has taken an indirect approach to the question, using well-defined mouse genetic system to identify genes modulating CCT and then interrogating human glaucoma data to determine if these genes are associated with glaucoma risk.  

MedicalResearch.com: What should readers take away from your report?

Response: Our group has identified a genetic link between corneal thickness and the risk for developing glaucoma.  The gene encodes a transcription factor (POU6F2) that is involved in corneal development and that is expressed in a retinal cell type particularly susceptible to injury in the mouse. The identification of this link is a wonderful example of the use of mouse genetics to aid in understanding human disease. 

MedicalResearch.com: What recommendations do you have for future research as a result of this work? 

Response: Future studies will examine the role of POU6F2 in the retina following injury, identifying the molecular cascade that leads to the susceptibility of retinal ganglion cells to injury.

The identification of these molecular pathways may provide unique insights into methods to treat early phases of the glaucoma

MedicalResearch.com: Is there anything else you would like to add?

Response: Our studies hold the potential for improving human health, by providing a marker for early detection of glaucoma and potentially understanding why some of the cells in the retina are particularly sensitive to injury.

Finally, this study represents a true collaborative effort, involving many laboratories around the world including Emory University, Harvard University and Duke University.  Our collaborative research efforts would not be possible without the Federal Funding from the National Eye Institute and a group of researchers willing to sit down and work together.  

Citations:

Genomic Locus Modulating Corneal Thickness in the Mouse Identifies POU6F2 as a Potential Risk of Developing Glaucoma

Rebecca King, Felix L. Struebing, Ying Li, Jiaxing Wang, Allison Ashley Koch, Jessica Cooke Bailey, Puya Gharahkhan, Stuart MacGregor, R. Rand Allingham, Michael A. Hauser, Janey L. Wiggs, Eldon E. Geisert

doi: https://doi.org/10.1101/212605 

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