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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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Copyright Statement
Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/
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: | 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: | 10 |
| Deposited By: | Menzies Institute for Medical Research |
| Deposited On: | 2016-06-22 |
| Last Modified: | 2017-11-06 |
| Downloads: | 146 View Download Statistics |
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