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

Henriët Springelkamp; Aniket Mishra; Pirro G Hysi; Puya Gharahkhani; René Höhn; Chiea-Chuen Khor; Jessica N Cooke Bailey; Xiaoyan Luo; Wishal D Ramdas; Eranga Vithana; Victor Koh; Seyhan Yazar; Liang Xu; Hannah Forward; Lisa S Kearns; Najaf Amin; Adriana I Iglesias; Kar-Seng Sim; Elisabeth M van Leeuwen; Ayse Demirkan; Sven van der Lee; Seng-Chee Loon; Fernando Rivadeneira; Abhishek Nag; Paul G Sanfilippo; Arne Schillert; Paulus T V M de Jong; Ben A Oostra; André G Uitterlinden; Albert Hofman; Tiger Zhou; Kathryn P Burdon; Timothy D Spector; Karl J Lackner; Seang-Mei Saw; Johannes R Vingerling; Yik-Ying Teo; Louis R Pasquale; Roger C W Wolfs; Hans G Lemij; E-Shyong Tai; Jost B Jonas; Ching-Yu Cheng; Tin Aung; Nomdo M Jansonius; Caroline C W Klaver; Jamie E Craig; Terri L Young; Jonathan L Haines; Christopher J Hammond; NEIGHBORHOOD Consortium

doi:10.1002/gepi.21886

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

Henriët Springelkamp, Aniket Mishra, Pirro G Hysi, Puya Gharahkhani, René Höhn, Chiea-Chuen Khor, Jessica N Cooke Bailey, Xiaoyan Luo, Wishal D Ramdas, Eranga Vithana, Victor Koh, Seyhan Yazar, Liang Xu, Hannah Forward, Lisa S Kearns, Najaf Amin, Adriana I Iglesias, Kar-Seng Sim, Elisabeth M van Leeuwen, Ayse DemirkanSven van der Lee, Seng-Chee Loon, Fernando Rivadeneira, Abhishek Nag, Paul G Sanfilippo, Arne Schillert, Paulus T V M de Jong, Ben A Oostra, André G Uitterlinden, Albert Hofman, Tiger Zhou, Kathryn P Burdon, Timothy D Spector, Karl J Lackner, Seang-Mei Saw, Johannes R Vingerling, Yik-Ying Teo, Louis R Pasquale, Roger C W Wolfs, Hans G Lemij, E-Shyong Tai, Jost B Jonas, Ching-Yu Cheng, Tin Aung, Nomdo M Jansonius, Caroline C W Klaver, Jamie E Craig, Terri L Young, Jonathan L Haines, Christopher J Hammond, NEIGHBORHOOD Consortium

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

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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.

Original language	English
Pages (from-to)	207-216
Number of pages	10
Journal	Genetic Epidemiology
Volume	39
Issue number	3
Early online date	28 Jan 2015
DOIs	https://doi.org/10.1002/gepi.21886
Publication status	Published - Mar 2015

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Springelkamp, H., Mishra, A., Hysi, P. G., Gharahkhani, P., Höhn, R., Khor, C.-C., Cooke Bailey, J. N., Luo, X., Ramdas, W. D., Vithana, E., Koh, V., Yazar, S., Xu, L., Forward, H., Kearns, L. S., Amin, N., Iglesias, A. I., Sim, K.-S., van Leeuwen, E. M., ... NEIGHBORHOOD Consortium (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{11ad8a2f0f9541c89f0c114b44f08397,

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.",

author = "Henri{\"e}t Springelkamp and Aniket Mishra and Hysi, {Pirro G} and Puya Gharahkhani and Ren{\'e} H{\"o}hn and Chiea-Chuen Khor 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 Kar-Seng Sim and {van Leeuwen}, {Elisabeth M} and Ayse Demirkan and {van der Lee}, Sven and Seng-Chee Loon 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 Seang-Mei Saw and Vingerling, {Johannes R} and Yik-Ying Teo and Pasquale, {Louis R} and Wolfs, {Roger C W} and Lemij, {Hans G} and E-Shyong Tai and Jonas, {Jost B} and Ching-Yu Cheng 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 Hammond, {Christopher J} and {NEIGHBORHOOD Consortium}",

year = "2015",

month = mar,

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, PG, Gharahkhani, P, Höhn, R, Khor, C-C, Cooke Bailey, JN, Luo, X, Ramdas, WD, Vithana, E, Koh, V, Yazar, S, Xu, L, Forward, H, Kearns, LS, Amin, N, Iglesias, AI, Sim, K-S, van Leeuwen, EM, Demirkan, A, van der Lee, S, Loon, S-C, Rivadeneira, F, Nag, A, Sanfilippo, PG, Schillert, A, de Jong, PTVM, Oostra, BA, Uitterlinden, AG, Hofman, A, Zhou, T, Burdon, KP, Spector, TD, Lackner, KJ, Saw, S-M, Vingerling, JR, Teo, Y-Y, Pasquale, LR, Wolfs, RCW, Lemij, HG, Tai, E-S, Jonas, JB, Cheng, C-Y, Aung, T, Jansonius, NM, Klaver, CCW, Craig, JE, Young, TL, Haines, JL, Hammond, CJ & NEIGHBORHOOD Consortium 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, Henriët

AU - Mishra, Aniket

AU - Hysi, Pirro G

AU - Gharahkhani, Puya

AU - Höhn, René

AU - Khor, Chiea-Chuen

AU - Cooke Bailey, Jessica N

AU - Luo, Xiaoyan

AU - Ramdas, Wishal D

AU - Vithana, Eranga

AU - Koh, Victor

AU - Yazar, Seyhan

AU - Xu, Liang

AU - Forward, Hannah

AU - Kearns, Lisa S

AU - Amin, Najaf

AU - Iglesias, Adriana I

AU - Sim, Kar-Seng

AU - van Leeuwen, Elisabeth M

AU - Demirkan, Ayse

AU - van der Lee, Sven

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

AU - Jansonius, Nomdo M

AU - Klaver, Caroline C W

AU - Craig, Jamie E

AU - Young, Terri L

AU - Haines, Jonathan L

AU - Hammond, Christopher J

AU - NEIGHBORHOOD Consortium

PY - 2015/3

Y1 - 2015/3

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.

U2 - 10.1002/gepi.21886

DO - 10.1002/gepi.21886

M3 - Article

C2 - 25631615

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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