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T. Umeda, T. Matsuo, Y. Tanabe, M. Nagayama, N. Tamura, H. Ohtsuki; Optineurin Gene Polymorphisms in Japanese Glaucoma Patients and Normal Individuals . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1111.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Optineurin mutations have been recently identified as responsible for the GLC1E locus of open angle glaucoma (Science2002;295:1077-9). This study aimed at detecting mutations and polymorphisms of optineurin gene (OPTN) in Japanese patients with various types of glaucoma as well as in normal Japanese individuals. Methods: The exons 4, 5, 6, and 16 of OPTN in 149 patients with various types of glaucoma and 43 normal individuals were amplified by polymerase chain reaction from genomic DNA of peripheral blood leukocytes and then submitted to direct sequencing. Included in the study were 67 patients with primary open angle glaucoma (POAG), 27 with normal tension glaucoma (NTG), 21 with secondary glaucoma (SG), 8 with capsular glaucoma (CapG), 9 with congenital glaucoma (ConG), 12 with primary angle-closure glaucoma (PACG), 4 with ocular hypertension (OH), and one with Chandler syndrome. Results: The reported heterozygous mutations, 458G>A(Glu50Lys) in exon 4 and 691_692insAG in exon 6 were not found in any glaucoma patients or normal individuals. The reported 603T>A(Met98Lys) in exon 5 was found in 9(13.4%) POAG, 2(7.4%) NTG, 3(14.2%) SG, one(12.5%) CapG, one(8.3%) PACG patients, and 4(9.3%) normal individuals. The reported 1944G>A(Arg545Gln) in exon 16 was found in 3(4.4%) POAG, one(3.7%) NTG, 2(9.5%) SG, 2(25.0%) CapG, one(8.3%) PACG patients, and 3(6.9%) normal individuals. In addition, a heterozygous change, 412G>A(Thr34Thr) in exon 4 was found in 18(26.8%) POAG, 4(14.8%) NTG, 4(19.0%) SG, 2(25.0%) CapG, 3(33.3%) ConG, 3(25.0%) PACG patients, and 6(13.9%) normal individuals. Another heterozygous change, 457C>T(Thr49Thr) in exon 4 was found only in 3(4.4%) POAG patients. Conclusions: The reported OPTN mutations were found as polymorphisms both in Japanese glaucoma patients and normal individuals. This population may harbor different types of OPTN polymorphisms as compared to the initial report.
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