The role of the Met98Lys optineurin variant in inherited optic nerve diseases. Issue 11 (2nd August 2006)

• Record Type: Journal Article
• Authors: Craig, J E; Hewitt, A W; Dimasi, D P; Howell, N; Toomes, C; Cohn, A C; Mackey, D A
• Is Part Of: British journal of ophthalmology. Volume 90:Issue 11(2006)
• Page Start: 1420
• Page End: 1424
• Publication Date: 2006-08-02
• Subjects: ADOA, autosomal dominant optic atrophy -- GIST, Glaucoma Inheritance Study in Tasmania -- HTG, high-tension glaucoma -- IOP, intraocular pressure -- LHON, Leber's hereditary optic neuropathy -- mtDNA, mitochondrial DNA -- NTG, normal-tension glaucoma -- OAG, open-angle glaucoma -- POAG, primary open-angle glaucoma; Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjo.2006.099333
• Languages: English
• ISSNs: 0007-1161

Abstract

Abstract : Aims: To investigate the role of the common OPTN Met98Lys variant as a risk allele in open-angle glaucoma (OAG), autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON). Methods: The presence of the Met98Lys variant was determined in a total of 498 (128 with normal-tension glaucoma (NTG)) patients with OAG, 29 patients who had myocilin-related OAG, 101 patients from ADOA pedigrees, 157 patients from LHON pedigrees and 218 examined OAG age-matched normal controls. Results: 17 of 218 (7.8%) controls had the Met98Lys variant. 28 (5.6%) patients with OAG were Met98Lys positive. More Met98Lys carriers were found in the NTG group than in the high-tension glaucoma (HTG) group (p = 0.033). However, no significant difference was observed between the NTG and control cohorts (p = 0.609). Two MYOC mutation carriers were found to have the variant. The variant was found in 1 of 10 pedigrees with ADOA and in 8 of 35 pedigrees with LHON. Conclusion: Data from this study do not support a strong role for the OPTN Met98Lys variant in glaucoma, ADOA or LHON. However, a weak association was observed of the variant with NTG compared with that with HTG. Meta-analysis of all published data on the variant and glaucoma confirmed that the association, although weak, is highly statistically significant in the cohort with glaucoma versus controls.