Journal article
Myocilin Gene Gln368Ter Variant Penetrance and Association with Glaucoma in Population-Based and Registry-Based Studies
X Han, E Souzeau, JS Ong, J An, OM Siggs, KP Burdon, S Best, I Goldberg, PR Healey, SL Graham, JB Ruddle, RA Mills, J Landers, A Galanopoulos, AJR White, R Casson, DA Mackey, AW Hewitt, P Gharahkhani, JE Craig Show all
JAMA Ophthalmology | AMER MEDICAL ASSOC | Published : 2019
Abstract
Importance: The p.Gln368Ter (rs74315329) risk allele in the myocilin gene (MYOC) was initially reported to have high penetrance in glaucoma registry-based studies, but much lower estimates were recently obtained from population-based studies. We investigated this disparity using data from Australia and the United Kingdom. Objectives: To examine the penetrance and effect size of the MYOC p.Gln368Ter variant with glaucoma and ocular hypertension (OHT). Design, Setting, and Participants: This cross-sectional study within the UK Biobank (UKBB) included participants of white British ancestry. Glaucoma cases were defined by International Classification of Diseases, Ninth Revision (ICD-9) and Tenth..
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Awarded by BrightFocus Foundation
Funding Acknowledgements
This work was supported by the National Health and Medical Research Council of Australia (grants 1107098; 1116360, 1116495, and 1023911), the Ophthalmic Research Institute of Australia, and the BrightFocus Foundation. Mr Han is supported by the University of Queensland Research Training Scholarship. Mr Ong is supported by scholarship from the University of Queensland and QIMR Berghofer Medical Research Institute. Drs Burdon and Craig are supported by National Health and Medical Research Council Fellowships. Dr MacGregor is supported by an Australian Research Council Future Fellowship.