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

G. Cuellar-Partida; J.E. Craig; K.P. Burdon; J.J. Wang; B.J. Vote; E. Souzeau; Ian L. Mcallister; Timothy Isaacs; S. Lake; David A. Mackey; Ian J. Constable; P. Mitchell; A.W. Hewitt; S. Macgregor

doi:10.1038/srep26885

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

G. Cuellar-Partida, J.E. Craig, K.P. Burdon, J.J. Wang, B.J. Vote, E. Souzeau, Ian L. Mcallister, Timothy Isaacs, S. Lake, David A. Mackey, Ian J. Constable, P. Mitchell, A.W. Hewitt, S. Macgregor

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Contribution to journal › Article › peer-review

25 Citations (Scopus)

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 (h2g = 0.42 ± 0.09) and AMD (h2g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h2g 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.

Original language	English
Article number	26885
Pages (from-to)	1-6
Journal	Scientific Reports
Volume	6
DOIs	https://doi.org/10.1038/srep26885
Publication status	Published - 31 May 2016

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10.1038/srep26885Licence: CC BY

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Cuellar-Partida, G., Craig, J. E., Burdon, K. P., Wang, J. J., Vote, B. J., Souzeau, E., Mcallister, I. L., Isaacs, T., Lake, S., Mackey, D. A., Constable, I. J., Mitchell, P., Hewitt, A. W., & Macgregor, S. (2016). Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. Scientific Reports, 6, 1-6. 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 (h2g = 0.42 ± 0.09) and AMD (h2g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h2g 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.",

author = "G. Cuellar-Partida and J.E. Craig and K.P. Burdon and J.J. Wang and B.J. Vote and E. Souzeau and Mcallister, \{Ian L.\} and Timothy Isaacs and S. Lake and Mackey, \{David A.\} and Constable, \{Ian J.\} and P. Mitchell and A.W. Hewitt and S. Macgregor",

year = "2016",

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day = "31",

doi = "10.1038/srep26885",

language = "English",

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journal = "Scientific Reports",

issn = "2045-2322",

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T1 - Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration

AU - Cuellar-Partida, G.

AU - Craig, J.E.

AU - Burdon, K.P.

AU - Wang, J.J.

AU - Vote, B.J.

AU - Souzeau, E.

AU - Mcallister, Ian L.

AU - Isaacs, Timothy

AU - Lake, S.

AU - Mackey, David A.

AU - Constable, Ian J.

AU - Mitchell, P.

AU - Hewitt, A.W.

AU - Macgregor, S.

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 (h2g = 0.42 ± 0.09) and AMD (h2g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h2g 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.

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 (h2g = 0.42 ± 0.09) and AMD (h2g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h2g 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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Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration

Abstract

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Translation of Genetic Eye Research Integrating Education, Counselling & Testing with Gene Discovery & Gene Based Therapies for Eye Disease

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

Abstract

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Translation of Genetic Eye Research Integrating Education, Counselling & Testing with Gene Discovery & Gene Based Therapies for Eye Disease

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