Primary open angle glaucoma (POAG), a common form of glaucoma, was examined in a study funded by the National Eye Institute (NEI).
Glaucoma refers to a group of conditions that damage the optic nerve. The damage often goes unnoticed for years but if diagnosed early can be treated with surgery or eye drops. Glaucoma affects 60 million people worldwide.
In the study, researchers compared the DNA of 3,853 affected individuals of European ancestry to a similar group of 33,480 unaffected individuals. Genotype data obtained from samples collected for the 1000 Genomes Project contributed substantially to this work, as it expanded coverage of human genetic variation and allowed for prediction of unknown genotypes. To ensure uniformity of the datasets used in the study, gene variants examined were limited to those present in the 1000 Genomes Project reference panel.
A major finding of the study suggests that variations in the genes FOXC1, TXNRD2, and ATXN2 are associated with glaucoma. These results identify new pathways that contribute to POAG susceptibility and suggest new targets for preventative therapies.
For more information on this study, access the article published in Nature Genetics: Bailey, J. N., et al. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat. Genet. 48, 189-194 (2016). Or, click here to read a a summary published in Science Daily.
