Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

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Abstract

Myocilin (MYOC) is a well-established primary open-angle glaucoma (POAG) risk gene, with rare variants known to have high penetrance. The most common clinically relevant risk variant, Gln368Ter, has an allele frequency of 0.1% to 0.3% in populations of European ancestry. Detection of rare MYOC variants has traditionally been conducted using Sanger sequencing. Here we report the use of genotyping arrays and imputation to assess whether rare variants including Gln368Ter can be reliably detected.

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Journal

Title: Investigative Opthalmology & Visual Science

Abbreviated Title: Invest. Ophthalmol. Vis. Sci.

Publisher: Association for Research in Vision and Ophthalmology (ARVO)

ISSN (Print): 1552-5783

Publication date Created: August 01 2015

Publication date (Print): August 03 2015

Volume: 56

Issue: 9

Page: 5087

Affiliations

[1 ]Queensland Institute of Medical Research Berghofer Medical Research Institute Brisbane, Queensland, Australia

[2 ]Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia 3Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia

[3 ]Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia 4Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia

[4 ]Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia

[5 ]Queensland Institute of Medical Research Berghofer Medical Research Institute Brisbane, Queensland, Australia 5School of Medicine, University of Queensland, Herston Campus, Brisbane, Queensland, Australia

[6 ]Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia 6Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia

[7 ]Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia 7South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia

Article

DOI: 10.1167/iovs.15-17305

PMC ID: 4525674

PubMed ID: 26237198

SO-VID: f7f8a992-8f7b-4af7-92c3-c504ff9761bc

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