Evaluation of optineurin equence variation in 1,048 patient with open-angle glaucoma

Purpoe To invetigate the aociation of equence variation in the optineurin (OPTN) gene in patient with open-angle glaucoma. Deign Propective cae control tudy. Method The OPTN gene wa creened for equence variation uing a combination of ingle-trand conformational polymorphim analyi and automated DNA equencing. A total of 1,299 ubject (1048 glaucoma patient and 251 control) were creened for variation in the four portion of the gene that had been previouly aociated with glaucoma. A ubet of thee ubject (376 patient and 176 control) wa creened for variation in the entire coding equence. Twenty-four percent of the patient and 35% of the control were Japanee, wherea the remainder were predominantly Caucaian. Allele frequencie were compared with the Fiher exact tet. Reult The OPTN equence variation were not ignificantly aociated with any form of high-tenion open-angle glaucoma. One proband with familial normal-tenion glaucoma wa found to harbor the previouly reported Glu50Ly variation. Another previouly reported change, Met98Ly, wa aociated with normal-tenion glaucoma in Japanee but not in Caucaian patient. Concluion Thi tudy provide ome additional evidence for the aociation of the Glu50Ly OPTN equence variation with familial normal tenion glaucoma. However, becaue familial normal-tenion glaucoma i o rare, thi change eem to be reponible for le than 0.1% of all open-angle glaucoma. The Arg545Gln variation i likely to be a nondieae–cauing polymorphim. The Met98Ly change may be aociated with a fraction of normal-tenion glaucoma in patient of Japanee ethnicity