Issue: July 10, 2012
January 13, 2012
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Newfound genetic variants may portend increased risk of open-angle glaucoma


Ophthalmology. 2011;118(12):2389-2397.

Issue: July 10, 2012
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Newly identified common genetic variants were found to contribute to the risk of open-angle glaucoma, according to a large study.

"A significant contribution to the risk of OAG was found for the new common variants identified by recent genome-wide association studies, but not for variants within the established genes," the study authors said. "Participants carrying a high number of risk alleles had an approximately threefold increase in the risk of OAG compared with those with a low number of risk alleles."

The newly identified common genetic variants ATOH7, CDKN2B and SIX1 were found to contribute to an elevated risk of OAG.

The population-based, case-control study included subjects from three cohorts, comprising 762 cases of OAG and 7,426 controls.

Investigators analyzed risk of OAG after common variants associated with OAG were identified within the established genes of MYOC, OPTN and WDR36. An area under the receiver operator characteristic curve (AUC) was used to compare discriminative accuracy between subjects with and without risk alleles.

Study results showed no significant associations between OAG and variants within the established genes. Analysis including the newly identified gene variants showed a significantly higher AUC compared with analysis that did not include those genes (P = .027).

Participants with a higher number of risk alleles had a significantly greater risk of OAG (P < .002), the authors said.