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

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posted 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.

History

Publication title

Scientific Reports

Volume

6

Article number

26885

Number

26885

Pagination

1-6

ISSN

2045-2322

Department/School

Menzies Institute for Medical Research

Publisher

Nature Publishing Group

Place of publication

United Kingdom

Rights statement

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

Repository Status

  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

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