Authors
Jamie E Craig, Xikun Han, Ayub Qassim, Mark Hassall, Jessica N Cooke Bailey, Tyler G Kinzy, Anthony P Khawaja, Jiyuan An, Henry Marshall, Puya Gharahkhani, Robert P Igo Jr, Stuart L Graham, Paul R Healey, Jue-Sheng Ong, Tiger Zhou, Owen Siggs, Matthew H Law, Emmanuelle Souzeau, Bronwyn Ridge, Pirro G Hysi, Kathryn P Burdon, Richard A Mills, John Landers, Jonathan B Ruddle, Ashish Agar, Anna Galanopoulos, Andrew JR White, Colin E Willoughby, Nicholas H Andrew, Stephen Best, Andrea L Vincent, Ivan Goldberg, Graham Radford-Smith, Nicholas G Martin, Grant W Montgomery, Veronique Vitart, Rene Hoehn, Robert Wojciechowski, Jost B Jonas, Tin Aung, Louis R Pasquale, Angela Jane Cree, Sobha Sivaprasad, Neeru A Vallabh, NEIGHBORHOOD consortium, UK Biobank Eye and Vision Consortium, Ananth C Viswanathan, Francesca Pasutto, Jonathan L Haines, Caroline CW Klaver, Cornelia M van Duijn, Robert J Casson, Paul J Foster, Peng Tee Khaw, Christopher J Hammond, David A Mackey, Paul Mitchell, Andrew J Lotery, Janey L Wiggs, Alex W Hewitt, Stuart MacGregor
Publication date
2020/2
Journal
Nature genetics
Volume
52
Issue
2
Pages
160-166
Publisher
Nature Publishing Group US
Description
Glaucoma, a disease characterized by progressive optic nerve degeneration, can be prevented through timely diagnosis and treatment. We characterize optic nerve photographs of 67,040 UK Biobank participants and use a multitrait genetic model to identify risk loci for glaucoma. A glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases and modifies penetrance of the MYOC variant encoding p.Gln368Ter, the most common glaucoma-associated myocilin variant. In the unselected glaucoma population, individuals in the top PRS decile reach an absolute risk for glaucoma 10 years earlier than the bottom decile and are at 15-fold increased risk of developing advanced glaucoma (top 10% versus remaining 90%, odds ratio = 4.20). The PRS predicts glaucoma progression in prospectively monitored, early manifest glaucoma cases (P = 0.004) and surgical intervention …
Scholar articles
JE Craig, X Han, A Qassim, M Hassall… - Nature genetics, 2020