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

doi:10.1038/srep26885

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

College of Medicine and Public Health

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Abstract

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 language	English
Article number	26885
Pages (from-to)	e26885
Number of pages	6
Journal	Scientific Reports
Volume	6
DOIs	https://doi.org/10.1038/srep26885
Publication status	Published - 31 May 2016

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Cuellar-Partida, G., Craig, J., Burdon, K., Wang, J. J., Vote, B. J., Souzeau, E., McAllister, I., Isaacs, T., Lake, S., Mackey, D., Constable, I., Mitchell, P., Hewitt, A., & Macgregor, S. (2016). Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. Scientific Reports, 6, e26885. Article 26885. https://doi.org/10.1038/srep26885

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title = "Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration",

abstract = " 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. ",

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

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AU - Cuellar-Partida, Gabriel

AU - Craig, Jamie

AU - Burdon, Kathryn

AU - Wang, Jie Jin

AU - Vote, Brendan Jt

AU - Souzeau, Emmanuelle

AU - McAllister, Ian

AU - Isaacs, Timothy

AU - Lake, Stewart

AU - Mackey, David

AU - Constable, I

AU - Mitchell, Paul

AU - Hewitt, Alex

AU - Macgregor, Stuart

PY - 2016/5/31

Y1 - 2016/5/31

N2 - 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.

AB - 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.

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

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