Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

NEIGHBORHOOD Consortium

Research output: Contribution to journalArticle

29 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)207-216
Number of pages10
JournalGenetic Epidemiology
Volume39
Issue number3
DOIs
StatePublished - Mar 1 2015

Fingerprint

Genome-Wide Association Study
Optic Disk
Glaucoma
Meta-Analysis
Optic Nerve Diseases
Retinal Ganglion Cells
Blindness
Optic Nerve
Nerve Fibers
Axons
Genes

Keywords

  • Cup area
  • Disc area
  • GWAS
  • Glaucoma

ASJC Scopus subject areas

  • Epidemiology
  • Genetics(clinical)

Cite this

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. / NEIGHBORHOOD Consortium.

In: Genetic Epidemiology, Vol. 39, No. 3, 01.03.2015, p. 207-216.

Research output: Contribution to journalArticle

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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.",
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author = "{NEIGHBORHOOD Consortium} and Henri{\"e}t Springelkamp and Aniket Mishra and Hysi, {Pirro G.} and Puya Gharahkhani and Ren{\'e} H{\"o}hn and Khor, {Chiea Chuen} and {Cooke Bailey}, {Jessica N.} and Xiaoyan Luo and Ramdas, {Wishal D.} and Eranga Vithana and Victor Koh and Seyhan Yazar and Liang Xu and Hannah Forward and Kearns, {Lisa S.} and Najaf Amin and Iglesias, {Adriana I.} and Sim, {Kar Seng} and {van Leeuwen}, {Elisabeth M.} and Ayse Demirkan and {van der Lee}, Sven and Loon, {Seng Chee} and Fernando Rivadeneira and Abhishek Nag and Sanfilippo, {Paul G.} and Arne Schillert and {de Jong}, {Paulus T.V.M.} and Oostra, {Ben A.} and Uitterlinden, {Andr{\'e} G.} and Albert Hofman and Tiger Zhou and Burdon, {Kathryn P.} and Spector, {Timothy D.} and Lackner, {Karl J.} and Saw, {Seang Mei} and Vingerling, {Johannes R.} and Teo, {Yik Ying} and Pasquale, {Louis R.} and Wolfs, {Roger C.W.} and Lemij, {Hans G.} and Tai, {E. Shyong} and Jonas, {Jost B.} and Cheng, {Ching Yu} and Tin Aung and Jansonius, {Nomdo M.} and Klaver, {Caroline C.W.} and Craig, {Jamie E.} and Young, {Terri L.} and Haines, {Jonathan L.} and Yutao Liu",
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AU - Hysi, Pirro G.

AU - Gharahkhani, Puya

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AU - Sim, Kar Seng

AU - van Leeuwen, Elisabeth M.

AU - Demirkan, Ayse

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AU - Loon, Seng Chee

AU - Rivadeneira, Fernando

AU - Nag, Abhishek

AU - Sanfilippo, Paul G.

AU - Schillert, Arne

AU - de Jong, Paulus T.V.M.

AU - Oostra, Ben A.

AU - Uitterlinden, André G.

AU - Hofman, Albert

AU - Zhou, Tiger

AU - Burdon, Kathryn P.

AU - Spector, Timothy D.

AU - Lackner, Karl J.

AU - Saw, Seang Mei

AU - Vingerling, Johannes R.

AU - Teo, Yik Ying

AU - Pasquale, Louis R.

AU - Wolfs, Roger C.W.

AU - Lemij, Hans G.

AU - Tai, E. Shyong

AU - Jonas, Jost B.

AU - Cheng, Ching Yu

AU - Aung, Tin

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AB - 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.

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KW - Disc area

KW - GWAS

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