Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration
journal contributionposted on 2023-05-18, 20:10 authored by Cuellar-Partida, G, Craig, JE, Kathryn BurdonKathryn Burdon, Wang, JJ, Vote, BJ, Souzeau, E, McAllister, IL, Isaacs, T, Lake, S, David MackeyDavid Mackey, Constable, IJ, Mitchell, P, Alexander HewittAlexander Hewitt, MacGregor, S
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 A± 0.09) and AMD (h2g = 0.71 A± 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 A± 0.25) which remained after removing known loci (rg = 0.64 A± 0.31). We also found that the genetic correlation between sexes for POAG was likely to be less than 1 (rg = 0.33 A± 0.24), suggesting that differences of prevalence among genders may be partly due to heritable factors.
Publication titleScientific Reports
Department/SchoolMenzies Institute for Medical Research
PublisherNature Publishing Group
Place of publicationUnited Kingdom
Rights statementLicensed under Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/