Journal article
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
T Zhou, E Souzeau, S Sharma, J Landers, R Mills, I Goldberg, PR Healey, S Graham, AW Hewitt, DA Mackey, A Galanopoulos, RJ Casson, JB Ruddle, J Ellis, P Leo, MA Brown, S MacGregor, DJ Lynn, KP Burdon, JE Craig
Plos One | PUBLIC LIBRARY SCIENCE | Published : 2017
Abstract
Purpose To identify biological processes associated with POAG and its subtypes, high-tension (HTG) and normal-tension glaucoma (NTG), by analyzing rare potentially damaging genetic variants. Methods A total of 122 and 65 unrelated HTG and NTG participants, respectively, with early onset advanced POAG, 103 non-glaucoma controls and 993 unscreened ethnicity-matched controls were included in this study. Study participants without myocilin disease-causing variants and non-glaucoma controls were subjected to whole exome sequencing on an Illumina HiSeq2000. Exomes of participants were sequenced on an Illumina HiSeq2000. Qualifying variants were rare in the general population (MAF < 0.001) and pote..
View full abstractGrants
Awarded by National Science Foundation
Funding Acknowledgements
This project is supported by The National Health and Medical Research Council (NHMRC) Centres of Research Excellence scheme (APP1023911) and project grant (APP1107098). SM is supported by an Australian Research Council Future Fellowship. DJL is supported by an EMBL Australia Group Leader award. JEC is supported by an NHMRC Practitioner Fellowship (APP1065433). The funding organizations had no role in the design or conduct of this research.