DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma [Genetics]

Conclusions.
The CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.

Source: Investigative Ophthalmology - December 18, 2014 Category: Opthalmology Authors: Liu, Y., Garrett, M. E., Yaspan, B. L., Bailey, J. C., Loomis, S. J., Brilliant, M., Budenz, D. L., Christen, W. G., Fingert, J. H., Gaasterland, D., Gaasterland, T., Kang, J. H., Lee, R. K., Lichter, P., Moroi, S. E., Realini, A., Richards, J. E., Schuma Tags: Genetics Source Type: research