Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration

Gabriel Cuellar-Partida, Jamie Craig, Kathryn Burdon, Jie Jin Wang, Brendan Jt Vote, Emmanuelle Souzeau, Ian McAllister, Timothy Isaacs, Stewart Lake, David Mackey, I Constable, Paul Mitchell, Alex Hewitt, Stuart Macgregor

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Primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are leading causes of irreversible blindness. Several loci have been mapped using genome-wide association studies. Until very recently, there was no recognized overlap in the genetic contribution to AMD and POAG. At genome-wide significance level, only ABCA1 harbors associations to both diseases. Here, we investigated the genetic architecture of POAG and AMD using genome-wide array data. We estimated the heritability for POAG (h 2 g = 0.42 ± 0.09) and AMD (h 2 g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h 2 g estimates to 0.36 and 0.24, respectively. There was evidence for a positive genetic correlation between POAG and AMD (r g = 0.47 ± 0.25) which remained after removing known loci (r g = 0.64 ± 0.31). We also found that the genetic correlation between sexes for POAG was likely to be less than 1 (r g = 0.33 ± 0.24), suggesting that differences of prevalence among genders may be partly due to heritable factors.

Original languageEnglish
Article number26885
Pages (from-to)e26885
Number of pages6
JournalScientific Reports
Publication statusPublished - 31 May 2016


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