Yutao Liu, MD, PhD, assistant professor of medicine and director of the Molecular Genetics Core Facility in the Center for Human Genetics wrote to share his group's recent article, GALC Deletions Increase the Risk of Primary Open-Angle Glaucoma: The Role of Mendelian Variants in Complex Disease.
That research is funded by the Glaucoma Research Foundation, Duke Translational Research Institute and the National Glaucoma Research of American Health Assistance Foundation.
We found a link between primary open-angle glaucoma and Krabbe disease for the first time. The homozygous deletion of GALC gene contributes to about 45% of Krabbe disease in the individuals with European ancestry. Individuals with only one copy of the GALC gene do not develop Krabbe disease. They, based on our study, have 3-5 times more risk to develop glaucoma. Based on the prevalence of Krabbe disease, it is estimated that there are hundreds of thousands individuals carrying just one copy of GALC gene.Liu says the study suggests that these individuals may need to have regular eye exams when they become older. Additionally, genetic mutations in Mendelian disorders could act as risk factors for complex genetic diseases. This study is done through the collaboration with other investigators at Duke, University of Michigan, Washington DC, University of Alabama at Birmingham, Bascom Palmer Eye Institute in Miami, and Ghana. The other authors include Jason Gibson, Joshua Wheeler, Lydia Coulter Kwee, Cecile M. Santiago-Turla, Stephen K. Akafo, Paul R. Lichter, Douglas E. Gaasterland, Sayoko E. Moroi, Pratap Challa, Leon W. Herndon, Christopher A. Girkin, Donald L. Budenz, Julia E. Richards, R. Rand Allingham, Michael A. Hauser. Find more recently published research by Medicin faculty in the Recent Articles (PubMed) sidebar widget, or on PubMed.