Genetic architecture of open-angle glaucoma and related determinants

Open-angle glaucoma (OAG) is a major sight-threatening disease worldwide. For long, only rare variants implicated in familial forms were known, but recently common variants were discovered. This raises the question whether OAG is genetically determined by many rare major mutations or also by multiple common variants (i.e. a polygenic model). In this study, genome-wide common variants associated with two clinical important measures of OAG, vertical-cup-disc-ratio and intraocular pressure, were analyzed in various independent cohorts. Our findings suggest that many common variants scattered over the whole genome are associated with vertical-cup-disc-ratio and OAG and ask for new strategies in OAG research. (By Drs. Wishal D. Ramdas, Johannes R. Vingerling, Cornelia M. van Duijn. http://jmg.bmj.com/content/early/2010/11/06/jmg.2010.083337.abstract?papetoc )