Genetic Marker Identified for Elevated IOP A genome-wide association study of 2,175 individuals from Sydney, Australia, revealed an association between IOP and a common variant at chromosome 7p21, a region between the genes GLCCl1 and ICA1. The researchers confirmed the findings in two replication cohorts in the United Kingdom involving 4,866 total individuals. According to the investigators, research has shown the former gene to have a role in various tissues’ sensitivity to glucocorticoids, whereas the latter “encodes a protein involved in the regulation of secretory vesicle trafficking. …Vesicular metabolism pathways have previously been ascribed a role in the pathobiology of [primary open-angle glaucoma].”1 Lead investigator Ananth Viswanathan, MD, PhD, stated that he and his colleagues “estimated that each copy of the variant increases the risk of developing glaucoma by 8%, and in established glaucoma, each copy gives an extra 6% likelihood of significant visual loss.” He noted that the study’s finding helps to elucidate the biological processes involved in glaucoma and could assist in identifying new targets for drug therapy.2 “The recent report by The Blue Mountains Eye Study and the Wellcome Trust Case Control Consortium 2 is truly exciting,” John Fingert, MD, PhD, told Glaucoma Today. “Their discovery of risk factors may lead glaucoma research in new directions to better understand the causes of ocular hypertension and glaucoma and ultimately to develop new sight-saving therapies.” Dr. Fingert is an associate professor in the Department of Ophthalmology and Visual Sciences, the Interdisciplinary Program in Genetics, and the Department of Anatomy and Cell Biology, all at the University of Iowa in Iowa City. “This is an intriguing result given the relationship between corticosteroids and elevation of IOP,” Janey Wiggs, MD, PhD, told GT. “Future research studies to investigate the association between this genomic region and steroid responsiveness in glaucoma would be of interest.” Dr. Wiggs is the associate chief of ophthalmology clinical research and the associate director of the Ocular Genomics Institute at the Massachusetts Eye and Ear Infirmary in Boston. 1.The Blue Mountains Eye Study (BMES) and The Wellcome Trust Case Control Consortium 2 (WTCCC2). Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus [published online ahead of print July 7, 2013]. Hum Mol Genet. doi:10.1093/hmg/ddt29. 2.Genetic marker discovered for IOP. Optometry Today. optometry.co.uk/news-and-features/news/?article=4927. Published July 29, 2013. Accessed August 6, 2013.
Posted on: Tue, 13 Aug 2013 13:43:11 +0000
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