Journal article

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

Puya Gharahkhani, Kathryn P Burdon, Alex W Hewitt, Matthew H Law, Emmanuelle Souzeau, Grant W Montgomery, Graham Radford-Smith, David A Mackey, Jamie E Craig, Stuart MacGregor

Investigative Ophthalmology & Visual Science | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2015

Abstract

PURPOSE: 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. METHODS: A total of 1155 cases with advanced POAG and 1992 unscreened controls genotyped on common variant arrays participated in this study. Accuracy of imputation of Gln368Ter variants was c..

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