Genetic Variants Associated With a History of Glaucoma Surgery in Japanese Patients With Primary Open Angle Glaucoma.

PRCIS

The genetic risk score (GRS) of genetic variants associated with intraocular pressure (IOP) elevation, but not those associated with optic nerve vulnerability, was associated with a history of glaucoma surgery in Japanese patients with primary open angle glaucoma (POAG).

OBJECTIVE

To investigate genetic variants associated with a history of glaucoma surgery in Japanese patients with POAG.

METHODS

Japanese patients with POAG (n = 468), including normal tension glaucoma (n = 246) and high tension glaucoma (n = 222), and control subjects (n = 246) were genotyped for 22 genetic variants predisposing to POAG, which can be classified into those associated with IOP elevation (IOP-related genetic variants) and optic nerve vulnerability independent of IOP (optic nerve-related genetic variants). The unweighted and weighted GRSs of 17 IOP-related, 5 optic nerve-related, and all 22 genetic variants were calculated, and the association between the GRS and a history of glaucoma surgery was evaluated.

RESULTS

There was a significant association (odds ratio 1.13 per unweighted GRS, 95%

CI

1.03 to 1.24, P = 0.0093) between IOP-related unweighted GRS and a history of glaucoma surgery. A significant association (odds ratio 1.09 per 0.1 weighted GRS, 95%

CI

1.04 to 1.14, P = 0.00022) was also found between IOP-related weighted GRS and a history of glaucoma surgery. The IOP-related GRS was positively correlated with the need for glaucoma surgery. The mean of IOP-related unweighted and weighted GRS in patients with POAG with a history of glaucoma surgery were significantly higher ( P = 0.013 and P = 0.00031, respectively) than those in patients with POAG without a history of glaucoma surgery.

CONCLUSIONS

IOP-related, but not optic nerve-related, genetic variants were associated with a history of glaucoma surgery in Japanese patients with POAG. These results indicate that IOP elevation induced by IOP-related genetic variants rather than optic nerve vulnerability induced by optic nerve-related genetic variants may play an important role in requiring glaucoma surgery.