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

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Cuellar-Partida, Gabriel
Craig, Jamie E
Burdon, Kathryn Penelope
Wang, Jie Jin
Vote, Brendan J
Souzeau, Emmanuelle
McAllister, Ian L
Isaacs, Timothy
Lake, Stewart
Mackey, David A
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Nature Publishing Group
Copyright 2016 The authors
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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 (h2 g = 0.42 ± 0.09) and AMD (h2 g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h2 g estimates to 0.36 and 0.24, respectively. There was evidence for a positive genetic correlation between POAG and AMD (rg = 0.47 ± 0.25) which remained after removing known loci (rg = 0.64 ± 0.31). We also found that the genetic correlation between sexes for POAG was likely to be less than 1 (rg = 0.33 ± 0.24), suggesting that differences of prevalence among genders may be partly due to heritable factors.
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Primary open-angle glaucoma, Risk factors, Macular degeneration
Cuellar-Partida, G. et al. Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. Sci. Rep. 6, 26885; doi: 10.1038/srep26885 (2016).