Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (OR) = 1.31, P = 2.1 × 10(-19)), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 × 10(-10)) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 × 10(-10)). Using RT-PCR and immunolabeling, we show that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells.
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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet 2014;46(10):1120-5.Abstract
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A delicate balance: maintaining mutualism to prevent disease. Cell Host Microbe 2014;16(4):425-7.Abstract
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The relationship of central foveal thickness to urinary iodine concentration in retinitis pigmentosa with or without cystoid macular edema. JAMA Ophthalmol 2014;132(10):1209-14.Abstract
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Does estrogen deficiency cause lacrimal gland inflammation and aqueous-deficient dry eye in mice?. Exp Eye Res 2014;127:153-60.Abstract
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Adeno-associated virus: fit to serve. Curr Opin Virol 2014;8C:90-97.Abstract
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Traumatic globe rupture and herniation into the maxillary sinus. Ophthal Plast Reconstr Surg 2014;30(6):e168.
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Granulomatous dacryoadenitis in regional enteritis (crohn disease). Am J Ophthalmol 2014;158(4):838-844.e1.Abstract
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Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol 2014;184(10):2641-52.Abstract
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Successful treatment of Paecilomyces lilacinus keratitis with oral posaconazole. Cornea 2014;33(7):747-9.Abstract
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Notch signaling functions in retinal pericyte survival. Invest Ophthalmol Vis Sci 2014;55(8):5191-9.Abstract
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