@article {1483599,
	title = {Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression},
	journal = {Nat Genet},
	volume = {52},
	number = {2},
	year = {2020},
	month = {2020 Feb},
	pages = {160-166},
	abstract = {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 in advanced disease (P = 3.6 {\texttimes} 10). This glaucoma PRS will facilitate the development of a personalized approach for earlier treatment of high-risk individuals, with less intensive monitoring and treatment being possible for lower-risk groups.},
	issn = {1546-1718},
	doi = {10.1038/s41588-019-0556-y},
	author = {Craig, Jamie E and Han, Xikun and Qassim, Ayub and Hassall, Mark and Cooke Bailey, Jessica N and Kinzy, Tyler G and Khawaja, Anthony P and An, Jiyuan and Marshall, Henry and Gharahkhani, Puya and Igo, Robert P and Graham, Stuart L and Healey, Paul R and Ong, Jue-Sheng and Zhou, Tiger and Siggs, Owen and Law, Matthew H and Souzeau, Emmanuelle and Ridge, Bronwyn and Hysi, Pirro G and Burdon, Kathryn P and Mills, Richard A and Landers, John and Ruddle, Jonathan B and Agar, Ashish and Galanopoulos, Anna and White, Andrew J R and Willoughby, Colin E and Andrew, Nicholas H and Best, Stephen and Vincent, Andrea L and Goldberg, Ivan and Radford-Smith, Graham and Martin, Nicholas G and Montgomery, Grant W and Vitart, Veronique and Hoehn, Rene and Wojciechowski, Robert and Jonas, Jost B and Aung, Tin and Pasquale, Louis R and Cree, Angela Jane and Sivaprasad, Sobha and Vallabh, Neeru A and NEIGHBORHOOD Consortium and UK Biobank Eye and Vision Consortium and Viswanathan, Ananth C and Pasutto, Francesca and Haines, Jonathan L and Klaver, Caroline C W and van Duijn, Cornelia M and Casson, Robert J and Foster, Paul J and Khaw, Peng Tee and Hammond, Christopher J and Mackey, David A and Mitchell, Paul and Lotery, Andrew J and Wiggs, Janey L and Hewitt, Alex W and Macgregor, Stuart}
}
