Roles of DNA copy number and sequence variants of galactosylceramidase gene in glaucoma
The Role of Galactosylceramidase in Glaucoma
Summary
This represents the first report of genomic copy number variants that confer a substantially increased risk of POAG. Considering how common CNVs are in the human genome this may be the first of many such associations. Further characterization of the GALC CNVs will improve our understanding of the etiology of primary open angle glaucoma, and could lead to the development of new tests or treatments for this debilitating disease.
Details
Our study will be the first to incorporate DNA copy number variants into the genetic association of POAG. The proposed investigation on identified GALC DNA loss will enable us to design CNV-specific PCRs in order to easily screen other POAG samples or the general population in a high-throughput way. Being the first research to link GALC with POAG, our study will open a new research topic and promote more genetic, molecular, and animal studies related with GALC. Our proposed research will provide important and critical information to develop strategies for future genetic test, diagnosis, prevention, and potential therapy in POAG by targeting the loss of function of GALC.
Research Updates
This study represents the first report of a specific gene expression loss that confers a substantially increased risk of primary open-angle glaucoma (POAG). Dr. Liu’s and Dr. Hauser’s team has further characterized the changes in the galactosylceramidase (GALC) gene copy number variations (CNVs) using a second experimental platform. The team has designed a new CNV-specific DNA amplification detection technique (using a method called polymerase chain reaction or PCR) for future screening of more samples. Dr. Liu’s study is the first to incorporate DNA copy number variants into the consideration for genetic association of risk for developing POAG. This study is also the first to link GALC with POAG. This research was published in the peer-reviewed journal PLoS ONE in November 2011. These researchers suggest that GALC is an attractive biomarker and potential therapeutic target for patients with this form of POAG.
Publications
Liu Y, Gibson J, Wheeler J, Kwee LC, Santiago-Turla CM, et al. (2011) GALC Deletions Increase the Risk of Primary Open-Angle Glaucoma: The Role of Mendelian Variants in Complex Disease. PLoS ONE 6(11): e27134. 
First published on: April 1, 2010
Last modified on: March 21, 2013