title: Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.
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 (h(2)g = 0.42 ± 0.09) and AMD (h(2)g = 0.71 ± 0.08). Removing known loci for POAG and AMD decreased the h(2)g 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.
authors.affiliation: Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Cuellar-Partida
authors.affiliation: Department of Ophthalmology, Flinders University, Adelaide, South Australia, 5001, Australia.
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Hobart, 7001, Australia.
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.affiliation: Centre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, 2145, Australia.
authors.forename: Jie Jin
authors.initials: JJ
authors.lastname: Wang
authors.affiliation: Launceston Eye Institute, Launceston, Tasmania, 7249, Australia.
authors.forename: Brendan J
authors.initials: BJ
authors.lastname: Vote
authors.affiliation: Department of Ophthalmology, Flinders University, Adelaide, South Australia, 5001, Australia.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Souzeau
authors.affiliation: Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, 6009, Australia.
authors.forename: Ian L
authors.initials: IL
authors.lastname: McAllister
authors.affiliation: Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, 6009, Australia.
authors.forename: Timothy
authors.initials: T
authors.lastname: Isaacs
authors.affiliation: Department of Ophthalmology, Flinders University, Adelaide, South Australia, 5001, Australia.
authors.forename: Stewart
authors.initials: S
authors.lastname: Lake
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Hobart, 7001, Australia.|Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, 6009, Australia.
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
authors.affiliation: Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, 6009, Australia.
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Constable
authors.affiliation: Centre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, 2145, Australia.
authors.forename: Paul
authors.initials: P
authors.lastname: Mitchell
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Hobart, 7001, Australia.|Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, 3002, Australia.
authors.forename: Alex W
authors.initials: AW
authors.lastname: Hewitt
authors.affiliation: Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia.
authors.forename: Stuart
authors.initials: S
authors.lastname: MacGregor
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D056426:Genetic Loci; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D020412:Multifactorial Inheritance; D012737:Sex Factors