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.
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 glaucomapatients 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.
Authors: Mohideen Abdul Kader; Prasanthi Namburi; Sarika Ramugade; R Ramakrishnan; Subbiah R Krishnadas; Ben R Roos; Sundaresan Periasamy; Alan L Robin; John H Fingert Journal: Ophthalmic Genet Date: 2016-06-29 Impact factor: 1.803
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Authors: Yutao Liu; Stephen Akafo; Cecile Santiago-Turla; Claudia S Cohen; Karen R Larocque-Abramson; Xuejun Qin; Leon W Herndon; Pratap Challa; Silke Schmidt; Michael A Hauser; R Rand Allingham Journal: Mol Vis Date: 2008-12-18 Impact factor: 2.367
Authors: Khaled K Abu-Amero; Ali Hellani; Patrick Bender; George L Spaeth; Jonathan Myers; L Jay Katz; Marlene Moster; Thomas M Bosley Journal: Mol Vis Date: 2009-08-15 Impact factor: 2.367
Authors: Arun Kumar; Manjunath G Basavaraj; Santosh K Gupta; Imteyaz Qamar; Abdullah Mahmood Ali; Vineeta Bajaj; T K Ramesh; D Ravi Prakash; Jyoti S Shetty; Syril K Dorairaj Journal: Mol Vis Date: 2007-04-30 Impact factor: 2.367
Authors: Francisco Lopez-Martinez; Maria-Pilar Lopez-Garrido; Francisco Sanchez-Sanchez; Ezequiel Campos-Mollo; Miguel Coca-Prados; Julio Escribano Journal: Mol Vis Date: 2007-06-14 Impact factor: 2.367