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Abstract #8905 Published in IGR 5-2
Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma
Wiggs JL; Auguste J; Allingham RR; Flor JD; Pericak-Vance MA; Rogers K; LaRocque KR; Graham FL; Broomer B; Del Bono EArchives of Ophthalmology 2003; 121: 1181-1183
OBJECTIVE: To determine whether mutations in the optineurin gene contribute to susceptibility for 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 eight (9%) of 86 probands. The authors 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 eight families. No other DNA changes altering the amino acid structure of the protein were found. CONCLUSIONS: 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.
Dr. J.L. Wiggs, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA
Classification:
1.2 Population genetics (Part of: 1 General aspects)
