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

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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 (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 languageEnglish
Article number26885
Pages (from-to)1-6
JournalScientific Reports
Volume6
DOIs
Publication statusPublished - 31 May 2016

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Macular Degeneration
Genome
Genome-Wide Association Study
Blindness
Primary Open Angle Glaucoma

Cite this

Cuellar-Partida, G., Craig, J. E., Burdon, K. P., Wang, J. J., Vote, B. J., Souzeau, E., ... Macgregor, S. (2016). Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. Scientific Reports, 6, 1-6. [26885]. https://doi.org/10.1038/srep26885
Cuellar-Partida, G. ; Craig, J.E. ; Burdon, K.P. ; Wang, J.J. ; Vote, B.J. ; Souzeau, E. ; Mcallister, Ian L. ; Isaacs, Timothy ; Lake, S. ; Mackey, David A. ; Constable, Ian J. ; Mitchell, P. ; Hewitt, A.W. ; Macgregor, S. / Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. In: Scientific Reports. 2016 ; Vol. 6. pp. 1-6.
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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 (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",
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Cuellar-Partida, G, Craig, JE, Burdon, KP, Wang, JJ, Vote, BJ, Souzeau, E, Mcallister, IL, Isaacs, T, Lake, S, Mackey, DA, Constable, IJ, Mitchell, P, Hewitt, AW & Macgregor, S 2016, 'Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration' Scientific Reports, vol. 6, 26885, pp. 1-6. https://doi.org/10.1038/srep26885

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. / Cuellar-Partida, G.; Craig, J.E.; Burdon, K.P.; Wang, J.J.; Vote, B.J.; Souzeau, E.; Mcallister, Ian L.; Isaacs, Timothy; Lake, S.; Mackey, David A.; Constable, Ian J.; Mitchell, P.; Hewitt, A.W.; Macgregor, S.

In: Scientific Reports, Vol. 6, 26885, 31.05.2016, p. 1-6.

Research output: Contribution to journalArticle

TY - JOUR

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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.

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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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JO - Scientific Reports

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SN - 2045-2322

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Cuellar-Partida G, Craig JE, Burdon KP, Wang JJ, Vote BJ, Souzeau E et al. Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. Scientific Reports. 2016 May 31;6:1-6. 26885. https://doi.org/10.1038/srep26885