title: Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
abstract: Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.
authors: Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
authors: Henriët
authors: H
authors: Springelkamp
authors: Aniket
authors: A
authors: Mishra
authors: Pirro G
authors: PG
authors: Hysi
authors: Puya
authors: P
authors: Gharahkhani
authors: René
authors: R
authors: Höhn
authors: Chiea-Chuen
authors: CC
authors: Khor
authors: Jessica N
authors: JN
authors: Cooke Bailey
authors: Xiaoyan
authors: X
authors: Luo
authors: Wishal D
authors: WD
authors: Ramdas
authors: Eranga
authors: E
authors: Vithana
authors: Victor
authors: V
authors: Koh
authors: Seyhan
authors: S
authors: Yazar
authors: Liang
authors: L
authors: Xu
authors: Hannah
authors: H
authors: Forward
authors: Lisa S
authors: LS
authors: Kearns
authors: Najaf
authors: N
authors: Amin
authors: Adriana I
authors: AI
authors: Iglesias
authors: Kar-Seng
authors: KS
authors: Sim
authors: Elisabeth M
authors: EM
authors: van Leeuwen
authors: Ayse
authors: A
authors: Demirkan
authors: Sven
authors: S
authors: van der Lee
authors: Seng-Chee
authors: SC
authors: Loon
authors: Fernando
authors: F
authors: Rivadeneira
authors: Abhishek
authors: A
authors: Nag
authors: Paul G
authors: PG
authors: Sanfilippo
authors: Arne
authors: A
authors: Schillert
authors: Paulus T V M
authors: PT
authors: de Jong
authors: Ben A
authors: BA
authors: Oostra
authors: André G
authors: AG
authors: Uitterlinden
authors: Albert
authors: A
authors: Hofman
authors: Tiger
authors: T
authors: Zhou
authors: Kathryn P
authors: KP
authors: Burdon
authors: Timothy D
authors: TD
authors: Spector
authors: Karl J
authors: KJ
authors: Lackner
authors: Seang-Mei
authors: SM
authors: Saw
authors: Johannes R
authors: JR
authors: Vingerling
authors: Yik-Ying
authors: YY
authors: Teo
authors: Louis R
authors: LR
authors: Pasquale
authors: Roger C W
authors: RC
authors: Wolfs
authors: Hans G
authors: HG
authors: Lemij
authors: E-Shyong
authors: ES
authors: Tai
authors: Jost B
authors: JB
authors: Jonas
authors: Ching-Yu
authors: CY
authors: Cheng
authors: Tin
authors: T
authors: Aung
authors: Nomdo M
authors: NM
authors: Jansonius
authors: Caroline C W
authors: CC
authors: Klaver
authors: Jamie E
authors: JE
authors: Craig
authors: Terri L
authors: TL
authors: Young
authors: Jonathan L
authors: JL
authors: Haines
authors: Stuart
authors: S
authors: MacGregor
authors: David A
authors: DA
authors: Mackey
authors: Norbert
authors: N
authors: Pfeiffer
authors: Tien-Yin
authors: TY
authors: Wong
authors: Janey L
authors: JL
authors: Wiggs
authors: Alex W
authors: AW
authors: Hewitt
authors: Cornelia M
authors: CM
authors: van Duijn
authors: Christopher J
authors: CJ
authors: Hammond
mesh_terms: D044466:Asian People / Q000235:genetics; D055106:Genome-Wide Association Study; D005901:Glaucoma / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009898:Optic Disk / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D040641:Quantitative Trait Loci / Q000235:genetics*; D044465:White People / Q000235:genetics
keywords: GWAS; cup area; disc area; glaucoma
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