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

Hanriët Springelkamp; Aniket Mishra; Pirro Hysi; Puya Gharahkhani; Rene Hohn; Chiea-Chuen Khor; Jessica Bailey Cooke; Xiaoyan Luo; Wishal Ramdas; Eranga Vithana; Victor Koh; Seyhan Yazar; Liang Xu; Hannah Forward; Lisa Kearns; Najaf Amin; Adriana Iglesias; Kar-Seng Sim; Elisabeth Van Leeuwen; Ayse Demirkan; Sven Van Der Lee; Seng-Chee Loon; Fernando Rivadeneira; Abhishek Nag; Paul Sanfilippo; Arne Schillert; Paulus De Jong; Ben Oostra; André Uitterlinden; Albert Hofman; Tiger Zhou; Kathryn Burdon; Tim Spector; Karl Lackner; Seang-Mei Saw; Johannes Vingerling; Yik-Ying Teo; Louis Pasquale; Roger Wolfs; Hans Lemij; E-Shyong Tai; Jost Jonas; Ching-Yu Cheng; Tin Aung; Nomdo Jansonius; Caroline Klaver; Jamie Craig; Terri Young; Jonathan Haines; Stuart Macgregor; David Mackey; Norbert Pfeiffer; Tien-Yin Wong; Janey Wiggs; Alex Hewitt; Cornelia van Duijn; Christopher Hammond

doi:10.1002/gepi.21886

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

Hanriët Springelkamp, Aniket Mishra, Pirro Hysi, Puya Gharahkhani, Rene Hohn, Chiea-Chuen Khor, Jessica Bailey Cooke, Xiaoyan Luo, Wishal Ramdas, Eranga Vithana, Victor Koh, Seyhan Yazar, Liang Xu, Hannah Forward, Lisa Kearns, Najaf Amin, Adriana Iglesias, Kar-Seng Sim, Elisabeth Van Leeuwen, Ayse DemirkanSven Van Der Lee, Seng-Chee Loon, Fernando Rivadeneira, Abhishek Nag, Paul Sanfilippo, Arne Schillert, Paulus De Jong, Ben Oostra, André Uitterlinden, Albert Hofman, Tiger Zhou, Kathryn Burdon, Tim Spector, Karl Lackner, Seang-Mei Saw, Johannes Vingerling, Yik-Ying Teo, Louis Pasquale, Roger Wolfs, Hans Lemij, E-Shyong Tai, Jost Jonas, Ching-Yu Cheng, Tin Aung, Nomdo Jansonius, Caroline Klaver, Jamie Craig, Terri Young, Jonathan Haines, Stuart Macgregor, David Mackey, Norbert Pfeiffer, Tien-Yin Wong, Janey Wiggs, Alex Hewitt, Cornelia van Duijn, Christopher Hammond

College of Medicine and Public Health

Research output: Contribution to journal › Article › peer-review

65 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 language	English
Pages (from-to)	207-216
Number of pages	10
Journal	GENETIC EPIDEMIOLOGY
Volume	39
Issue number	3
DOIs	https://doi.org/10.1002/gepi.21886
Publication status	Published - 1 Mar 2015

Keywords

Cup area
Disc area
Glaucoma
GWAS

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10.1002/gepi.21886

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Springelkamp, H., Mishra, A., Hysi, P., Gharahkhani, P., Hohn, R., Khor, C.-C., Bailey Cooke, J., Luo, X., Ramdas, W., Vithana, E., Koh, V., Yazar, S., Xu, L., Forward, H., Kearns, L., Amin, N., Iglesias, A., Sim, K.-S., Van Leeuwen, E., ... Hammond, C. (2015). Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. GENETIC EPIDEMIOLOGY, 39(3), 207-216. https://doi.org/10.1002/gepi.21886

@article{0999d3d0e6284cc2b4f48c4e092f2e0f,

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.",

keywords = "Cup area, Disc area, Glaucoma, GWAS",

author = "Hanri{\"e}t Springelkamp and Aniket Mishra and Pirro Hysi and Puya Gharahkhani and Rene Hohn and Chiea-Chuen Khor and {Bailey Cooke}, Jessica and Xiaoyan Luo and Wishal Ramdas and Eranga Vithana and Victor Koh and Seyhan Yazar and Liang Xu and Hannah Forward and Lisa Kearns and Najaf Amin and Adriana Iglesias and Kar-Seng Sim and {Van Leeuwen}, Elisabeth and Ayse Demirkan and {Van Der Lee}, Sven and Seng-Chee Loon and Fernando Rivadeneira and Abhishek Nag and Paul Sanfilippo and Arne Schillert and {De Jong}, Paulus and Ben Oostra and Andr{\'e} Uitterlinden and Albert Hofman and Tiger Zhou and Kathryn Burdon and Tim Spector and Karl Lackner and Seang-Mei Saw and Johannes Vingerling and Yik-Ying Teo and Louis Pasquale and Roger Wolfs and Hans Lemij and E-Shyong Tai and Jost Jonas and Ching-Yu Cheng and Tin Aung and Nomdo Jansonius and Caroline Klaver and Jamie Craig and Terri Young and Jonathan Haines and Stuart Macgregor and David Mackey and Norbert Pfeiffer and Tien-Yin Wong and Janey Wiggs and Alex Hewitt and {van Duijn}, Cornelia and Christopher Hammond",

year = "2015",

month = mar,

day = "1",

doi = "10.1002/gepi.21886",

language = "English",

volume = "39",

pages = "207--216",

journal = "GENETIC EPIDEMIOLOGY",

issn = "0741-0395",

publisher = "Wiley-Liss Inc.",

number = "3",

}

Springelkamp, H, Mishra, A, Hysi, P, Gharahkhani, P, Hohn, R, Khor, C-C, Bailey Cooke, J, Luo, X, Ramdas, W, Vithana, E, Koh, V, Yazar, S, Xu, L, Forward, H, Kearns, L, Amin, N, Iglesias, A, Sim, K-S, Van Leeuwen, E, Demirkan, A, Van Der Lee, S, Loon, S-C, Rivadeneira, F, Nag, A, Sanfilippo, P, Schillert, A, De Jong, P, Oostra, B, Uitterlinden, A, Hofman, A, Zhou, T, Burdon, K, Spector, T, Lackner, K, Saw, S-M, Vingerling, J, Teo, Y-Y, Pasquale, L, Wolfs, R, Lemij, H, Tai, E-S, Jonas, J, Cheng, C-Y, Aung, T, Jansonius, N, Klaver, C, Craig, J, Young, T, Haines, J, Macgregor, S, Mackey, D, Pfeiffer, N, Wong, T-Y, Wiggs, J, Hewitt, A, van Duijn, C & Hammond, C 2015, 'Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology', GENETIC EPIDEMIOLOGY, vol. 39, no. 3, pp. 207-216. https://doi.org/10.1002/gepi.21886

TY - JOUR

T1 - Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

AU - Springelkamp, Hanriët

AU - Mishra, Aniket

AU - Hysi, Pirro

AU - Gharahkhani, Puya

AU - Hohn, Rene

AU - Khor, Chiea-Chuen

AU - Bailey Cooke, Jessica

AU - Luo, Xiaoyan

AU - Ramdas, Wishal

AU - Vithana, Eranga

AU - Koh, Victor

AU - Yazar, Seyhan

AU - Xu, Liang

AU - Forward, Hannah

AU - Kearns, Lisa

AU - Amin, Najaf

AU - Iglesias, Adriana

AU - Sim, Kar-Seng

AU - Van Leeuwen, Elisabeth

AU - Demirkan, Ayse

AU - Van Der Lee, Sven

AU - Loon, Seng-Chee

AU - Rivadeneira, Fernando

AU - Nag, Abhishek

AU - Sanfilippo, Paul

AU - Schillert, Arne

AU - De Jong, Paulus

AU - Oostra, Ben

AU - Uitterlinden, André

AU - Hofman, Albert

AU - Zhou, Tiger

AU - Burdon, Kathryn

AU - Spector, Tim

AU - Lackner, Karl

AU - Saw, Seang-Mei

AU - Vingerling, Johannes

AU - Teo, Yik-Ying

AU - Pasquale, Louis

AU - Wolfs, Roger

AU - Lemij, Hans

AU - Tai, E-Shyong

AU - Jonas, Jost

AU - Cheng, Ching-Yu

AU - Aung, Tin

AU - Jansonius, Nomdo

AU - Klaver, Caroline

AU - Craig, Jamie

AU - Young, Terri

AU - Haines, Jonathan

AU - Macgregor, Stuart

AU - Mackey, David

AU - Pfeiffer, Norbert

AU - Wong, Tien-Yin

AU - Wiggs, Janey

AU - Hewitt, Alex

AU - van Duijn, Cornelia

AU - Hammond, Christopher

PY - 2015/3/1

Y1 - 2015/3/1

N2 - 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.

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.

KW - Cup area

KW - Disc area

KW - Glaucoma

KW - GWAS

UR - http://www.scopus.com/inward/record.url?scp=84925206371&partnerID=8YFLogxK

U2 - 10.1002/gepi.21886

DO - 10.1002/gepi.21886

M3 - Article

SN - 0741-0395

VL - 39

SP - 207

EP - 216

JO - GENETIC EPIDEMIOLOGY

JF - GENETIC EPIDEMIOLOGY

IS - 3

ER -

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

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