Genetic Risk Factors and Glaucoma Outcomes

Project Summary

Mutations that alter the myocilin (MYOC) gene product are known to cause glaucoma, but it has also been suggested that glaucoma severity might be affected by mutations in the regulatory promoter region that affects level of expression of the gene. Because there are contradictory reports regarding the role of variants in this MYOC regulatory region, it is important to carry out an optimal study aimed at evaluating whether MYOC regulatory variants can affect glaucoma severity or outcomes. We propose to use the Collaborative Initial Glaucoma Treatment Study (CIGTS) and Advanced Glaucoma Intervention Study (AGIS) study samples for analyzing this risk factor in the MYOC gene. This sample set offers well-documented clinical information and will help establish whether there is a correlation between the MYOC genotypes and the outcomes of the glaucoma clinical trial samples. In fact, this project may help physicians predict things about severity and outcome for their patients, and assist them in using this information in designing an optimal treatment plan. One of the important features of the proposed work is that it will provide important information whether or not the sequence variant turns out to be predictive of outcome.