Glaucoma-related genes revealed

NIH | MARCH 16, 2016

Glaucoma is most often caused by a buildup of pressure inside the eye. In primary open angle glaucoma, the most common type of glaucoma, fluid drains too slowly from a space in the front of the eye called the anterior chamber. The underlying causes of primary open angle glaucoma remain poorly understood, but likely involve both genetic and environmental influences.

Glaucoma. Image credit: James Heilman, MD/Wikipedia (CC BY-SA 3.0)

To find genetic factors associated with primary open angle glaucoma, a research team of Harvard Medical School compared the genomes of more than 3,800 people of European ancestry who had primary open-angle glaucoma to a similar group of more than 33,000 people without it.

The researchers found specific variations in the genes FOXC1, TXNRD2, and ATXN2 that are associated with glaucoma. All 3 genes are expressed in the eye. TXNRD2 and ATXN2 are active in the optic nerve.

Scientists had already identified an association between FOXC1 and glaucoma, but only in rare cases of severe early-onset glaucoma.

The TXNRD2 gene codes for an enzyme that protects against oxidative stress—the buildup of toxic byproducts from metabolism. Scientists had suspected that oxidative stress might contribute to the degeneration of the optic nerve, but until now lacked evidence.

Little is known about ATXN2. Mutations of the gene are implicated in a rare disorder called spinocerebellar ataxia 2 that causes loss of balance and coordination. Interestingly, ATXN2 is the third gene found to be associated with both glaucoma and amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. However, there’s no evidence that people with glaucoma are at greater risk of developing ALS.

These findings open avenues for the pursuit of new strategies to screen for, prevent, and treat glaucoma.

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