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Title: Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration
Authors: Cuellar-Partida, G
Craig, J.E
Burdon, K.P
Wang, J.J 
Vote, B.J
Souzeau, E
McAllister, I.L
Isaacs, T
Lake, S
Mackey, D.A
Constable, I.J
Mitchell, P
Hewitt, A.W
MacGregor, S
Keywords: aged
biological model
case control study
gene locus
genome-wide association study
human genome
macular degeneration
middle aged
multifactorial inheritance
open angle glaucoma
sex factor
very elderly
Aged, 80 and over
Case-Control Studies
Genetic Loci
Genome, Human
Genome-Wide Association Study
Glaucoma, Open-Angle
Macular Degeneration
Middle Aged
Models, Genetic
Multifactorial Inheritance
Sex Factors
Issue Date: 2016
Citation: Cuellar-Partida, G, Craig, J.E, Burdon, K.P, Wang, J.J, Vote, B.J, Souzeau, E, McAllister, I.L, Isaacs, T, Lake, S, Mackey, D.A, Constable, I.J, Mitchell, P, Hewitt, A.W, MacGregor, S (2016). Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. Scientific Reports 6 : 26885. ScholarBank@NUS Repository.
Rights: Attribution 4.0 International
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 ± 0.09) and AMD (h2g = 0.71 ± 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 ± 0.25) which remained after removing known loci (rg = 0.64 ± 0.31). We also found that the genetic correlation between sexes for POAG was likely to be less than 1 (rg = 0.33 ± 0.24), suggesting that differences of prevalence among genders may be partly due to heritable factors.
Source Title: Scientific Reports
ISSN: 20452322
DOI: 10.1038/srep26885
Rights: Attribution 4.0 International
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