Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma

Janey L. Wiggs, Josette Auguste, R. Rand Allingham, Jason D. Flor, Margaret A. Pericak-Vance, Kathryn Rogers, Karen R. LaRocque, Felicia L. Graham, Bob Broomer, Elizabeth Del Bono, Jonathan L. Haines, Michael Hauser

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79 Scopus citations

Abstract

Objective: To determine whether mutations in the optineurin gene contribute to susceptibility to adult-onset primary open-angle glaucoma. Methods: The optineurin gene was screened in 86 probands with adult-onset primary open-angle glaucoma and in 80 age-matched control subjects. Exons 4 and 5, containing the recurrent mutations identified in patients with normal-tension glaucoma, were sequenced in all individuals studied, while the remaining exons were screened for DNA sequence variants with denaturing high-performance liquid chromatography. Results: The recurrent mutation, Met98Lys, previously found to be associated with an increased risk of disease was found in 8 (9%) of 86 probands. We also found the Met98Lys mutation in 10% of individuals from a control population of similar age, sex, and ethnicity. Consistent segregation of the mutation with the disease was not demonstrated in any of the 8 families. No other DNA changes altering the amino acid structure of the protein were found. Conclusion: The mutations in the optineurin gene associated with normal-tension glaucoma are not associated with adult-onset primary open-angle glaucoma in this patient population. Clinical Relevance: Genetic abnormalities that render the optic nerve susceptible to degeneration are excellent candidates for genetic factors that could contribute to adult-onset primary open-angle glaucoma. Mutations in optineurin have been associated with normal-tension glaucoma, but are not associated with disease in patients with adult-onset primary open-angle glaucoma. This result may indicate that normal-tension glaucoma is not necessarily part of the phenotypic spectrum of adult open-angle glaucoma.

Original languageEnglish (US)
Pages (from-to)1181-1183
Number of pages3
JournalArchives of ophthalmology
Volume121
Issue number8
DOIs
StatePublished - Aug 1 2003

ASJC Scopus subject areas

  • Ophthalmology

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    Wiggs, J. L., Auguste, J., Allingham, R. R., Flor, J. D., Pericak-Vance, M. A., Rogers, K., LaRocque, K. R., Graham, F. L., Broomer, B., Del Bono, E., Haines, J. L., & Hauser, M. (2003). Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. Archives of ophthalmology, 121(8), 1181-1183. https://doi.org/10.1001/archopht.121.8.1181