eCite Digital Repository

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


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]


Copyright Statement

Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1038/srep26885


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:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:109573
Year Published:2016
Web of Science® Times Cited:16
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-06-22
Last Modified:2022-08-25
Downloads:183 View Download Statistics

Repository Staff Only: item control page