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Evaluation of optineurin sequence variations in 1048 patients with open-angle glaucoma

journal contribution
posted on 2023-05-16, 20:33 authored by Alward, WL, Kwon, YH, Kawase, K, Jamie CraigJamie Craig, Hayreh, SS, Johnson, AT, Khanna, CL, Yamamoto, T, David MackeyDavid Mackey, Roos, BR, Affatigato, LM, Sheffield, VC, Stone, EM
PURPOSE: To investigate the association of sequence variations in the optineurin (OPTN) gene in patients with open-angle glaucoma. DESIGN: Prospective case control study. METHODS: The OPTN gene was screened for sequence variations using a combination of single-strand conformational polymorphism analysis and automated DNA sequencing. A total of 1,299 subjects (1048 glaucoma patients and 251 controls) were screened for variations in the four portions of the gene that had been previously associated with glaucoma. A subset of these subjects (376 patients and 176 controls) was screened for variations in the entire coding sequence. Twenty-four percent of the patients and 35% of the controls were Japanese, whereas the remainder were predominantly Caucasian. Allele frequencies were compared with the Fisher exact test. RESULTS: The OPTN sequence variations were not significantly associated with any form of high-tension open-angle glaucoma. One proband with familial normal-tension glaucoma was found to harbor the previously reported Glu50Lys variation. Another previously reported change, Met98Lys, was associated with normal-tension glaucoma in Japanese but not in Caucasian patients. CONCLUSIONS: This study provides some additional evidence for the association of the Glu50Lys OPTN sequence variation with familial normal tension glaucoma. However, because familial normal-tension glaucoma is so rare, this change seems to be responsible for less than 0.1% of all open-angle glaucoma. The Arg545Gln variation is likely to be a nondisease-causing polymorphism. The Met98Lys change may be associated with a fraction of normal-tension glaucoma in patients of Japanese ethnicity. © 2003 by Elsevier Inc. All rights reserved.

History

Publication title

American Journal of Ophthalmology

Volume

136

Issue

5

Pagination

904-910

ISSN

0002-9394

Department/School

Menzies Institute for Medical Research

Publisher

Elsevier Science Inc

Place of publication

360 Park Ave South, New York, USA, Ny, 10010-1710

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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