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

Citation

Cuellar-Partida, G and Craig, JE and Burdon, KP and Wang, JJ and Vote, BJ and Souzeau, E and McAllister, IL and Isaacs, T and Lake, S and Mackey, DA and Constable, IJ and Mitchell, P and Hewitt, AW and MacGregor, S, Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration, Scientific Reports, 6 Article 26885. ISSN 2045-2322 (2016) [Refereed Article]


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Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/

DOI: doi:10.1038/srep26885

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 Aħ 0.09) and AMD (h2g = 0.71 Aħ 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 Aħ 0.25) which remained after removing known loci (rg = 0.64 Aħ 0.31). We also found that the genetic correlation between sexes for POAG was likely to be less than 1 (rg = 0.33 Aħ 0.24), suggesting that differences of prevalence among genders may be partly due to heritable factors.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Burdon, KP (Associate Professor Kathryn Burdon)
Author:Mackey, DA (Professor David Mackey)
Author:Hewitt, AW (Dr Alex Hewitt)
ID Code:109573
Year Published:2016
Web of Science® Times Cited:3
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-06-22
Last Modified:2017-02-15
Downloads:36 View Download Statistics

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