Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Henriët Springelkamp; René Höhn; Aniket Mishra; Pirro G Hysi; Chiea-Chuen Khor; Stephanie J Loomis; Jessica N Cooke Bailey; Jane Gibson; Gudmar Thorleifsson; Sarah F Janssen; Xiaoyan Luo; Wishal D Ramdas; Eranga Vithana; Monisha E Nongpiur; Grant W Montgomery; Liang Xu; Jenny E Mountain; Puya Gharahkhani; Yi Lu; Najaf Amin; Lennart C Karssen; Kar-Seng Sim; Elisabeth M van Leeuwen; Adriana I Iglesias; Virginie J M Verhoeven; Michael A Hauser; Seng-Chee Loon; Dominiek D G Despriet; Abhishek Nag; Cristina Venturini; Paul G Sanfilippo; Arne Schillert; Jae H Kang; John Landers; Fridbert Jonasson; Angela J Cree; Leonieke M E van Koolwijk; Fernando Rivadeneira; Emmanuelle Souzeau; Vesteinn Jonsson; Geeta Menon; Robert N Weinreb; Paulus T V M de Jong; Ben A Oostra; André G Uitterlinden; Albert Hofman; Sarah Ennis; Unnur Thorsteinsdottir; Timothy D Spector; Christopher J Hammond; Blue Mountains Eye Study—GWAS group

doi:10.1038/ncomms5883

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Henriët Springelkamp, René Höhn, Aniket Mishra, Pirro G Hysi, Chiea-Chuen Khor, Stephanie J Loomis, Jessica N Cooke Bailey, Jane Gibson, Gudmar Thorleifsson, Sarah F Janssen, Xiaoyan Luo, Wishal D Ramdas, Eranga Vithana, Monisha E Nongpiur, Grant W Montgomery, Liang Xu, Jenny E Mountain, Puya Gharahkhani, Yi Lu, Najaf AminLennart C Karssen, Kar-Seng Sim, Elisabeth M van Leeuwen, Adriana I Iglesias, Virginie J M Verhoeven, Michael A Hauser, Seng-Chee Loon, Dominiek D G Despriet, Abhishek Nag, Cristina Venturini, Paul G Sanfilippo, Arne Schillert, Jae H Kang, John Landers, Fridbert Jonasson, Angela J Cree, Leonieke M E van Koolwijk, Fernando Rivadeneira, Emmanuelle Souzeau, Vesteinn Jonsson, Geeta Menon, Robert N Weinreb, Paulus T V M de Jong, Ben A Oostra, André G Uitterlinden, Albert Hofman, Sarah Ennis, Unnur Thorsteinsdottir, Timothy D Spector, Christopher J Hammond, Blue Mountains Eye Study—GWAS group

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Abstract

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

Original language	English
Article number	4883
Number of pages	7
Journal	Nature Communications
Volume	5
DOIs	https://doi.org/10.1038/ncomms5883
Publication status	Published - 22 Sept 2014

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Springelkamp, H., Höhn, R., Mishra, A., Hysi, P. G., Khor, C.-C., Loomis, S. J., Bailey, J. N. C., Gibson, J., Thorleifsson, G., Janssen, S. F., Luo, X., Ramdas, W. D., Vithana, E., Nongpiur, M. E., Montgomery, G. W., Xu, L., Mountain, J. E., Gharahkhani, P., Lu, Y., ... Blue Mountains Eye Study—GWAS group (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications, 5, Article 4883. https://doi.org/10.1038/ncomms5883

@article{f28f52350ea04818a129a4d23457bab1,

title = "Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process",

abstract = "Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.",

author = "Henri{\"e}t Springelkamp and Ren{\'e} H{\"o}hn and Aniket Mishra and Hysi, {Pirro G} and Chiea-Chuen Khor and Loomis, {Stephanie J} and Bailey, {Jessica N Cooke} and Jane Gibson and Gudmar Thorleifsson and Janssen, {Sarah F} and Xiaoyan Luo and Ramdas, {Wishal D} and Eranga Vithana and Nongpiur, {Monisha E} and Montgomery, {Grant W} and Liang Xu and Mountain, {Jenny E} and Puya Gharahkhani and Yi Lu and Najaf Amin and Karssen, {Lennart C} and Kar-Seng Sim and {van Leeuwen}, {Elisabeth M} and Iglesias, {Adriana I} and Verhoeven, {Virginie J M} and Hauser, {Michael A} and Seng-Chee Loon and Despriet, {Dominiek D G} and Abhishek Nag and Cristina Venturini and Sanfilippo, {Paul G} and Arne Schillert and Kang, {Jae H} and John Landers and Fridbert Jonasson and Cree, {Angela J} and {van Koolwijk}, {Leonieke M E} and Fernando Rivadeneira and Emmanuelle Souzeau and Vesteinn Jonsson and Geeta Menon and Weinreb, {Robert N} and {de Jong}, {Paulus T V M} and Oostra, {Ben A} and Uitterlinden, {Andr{\'e} G} and Albert Hofman and Sarah Ennis and Unnur Thorsteinsdottir and Spector, {Timothy D} and Hammond, {Christopher J} and {Blue Mountains Eye Study—GWAS group}",

year = "2014",

month = sep,

day = "22",

doi = "10.1038/ncomms5883",

language = "English",

volume = "5",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group",

}

Springelkamp, H, Höhn, R, Mishra, A, Hysi, PG, Khor, C-C, Loomis, SJ, Bailey, JNC, Gibson, J, Thorleifsson, G, Janssen, SF, Luo, X, Ramdas, WD, Vithana, E, Nongpiur, ME, Montgomery, GW, Xu, L, Mountain, JE, Gharahkhani, P, Lu, Y, Amin, N, Karssen, LC, Sim, K-S, van Leeuwen, EM, Iglesias, AI, Verhoeven, VJM, Hauser, MA, Loon, S-C, Despriet, DDG, Nag, A, Venturini, C, Sanfilippo, PG, Schillert, A, Kang, JH, Landers, J, Jonasson, F, Cree, AJ, van Koolwijk, LME, Rivadeneira, F, Souzeau, E, Jonsson, V, Menon, G, Weinreb, RN, de Jong, PTVM, Oostra, BA, Uitterlinden, AG, Hofman, A, Ennis, S, Thorsteinsdottir, U, Spector, TD , Hammond, CJ & Blue Mountains Eye Study—GWAS group 2014, 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, vol. 5, 4883. https://doi.org/10.1038/ncomms5883

TY - JOUR

T1 - Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

AU - Springelkamp, Henriët

AU - Höhn, René

AU - Mishra, Aniket

AU - Hysi, Pirro G

AU - Khor, Chiea-Chuen

AU - Loomis, Stephanie J

AU - Bailey, Jessica N Cooke

AU - Gibson, Jane

AU - Thorleifsson, Gudmar

AU - Janssen, Sarah F

AU - Luo, Xiaoyan

AU - Ramdas, Wishal D

AU - Vithana, Eranga

AU - Nongpiur, Monisha E

AU - Montgomery, Grant W

AU - Xu, Liang

AU - Mountain, Jenny E

AU - Gharahkhani, Puya

AU - Lu, Yi

AU - Amin, Najaf

AU - Karssen, Lennart C

AU - Sim, Kar-Seng

AU - van Leeuwen, Elisabeth M

AU - Iglesias, Adriana I

AU - Verhoeven, Virginie J M

AU - Hauser, Michael A

AU - Loon, Seng-Chee

AU - Despriet, Dominiek D G

AU - Nag, Abhishek

AU - Venturini, Cristina

AU - Sanfilippo, Paul G

AU - Schillert, Arne

AU - Kang, Jae H

AU - Landers, John

AU - Jonasson, Fridbert

AU - Cree, Angela J

AU - van Koolwijk, Leonieke M E

AU - Rivadeneira, Fernando

AU - Souzeau, Emmanuelle

AU - Jonsson, Vesteinn

AU - Menon, Geeta

AU - Weinreb, Robert N

AU - de Jong, Paulus T V M

AU - Oostra, Ben A

AU - Uitterlinden, André G

AU - Hofman, Albert

AU - Ennis, Sarah

AU - Thorsteinsdottir, Unnur

AU - Spector, Timothy D

AU - Hammond, Christopher J

AU - Blue Mountains Eye Study—GWAS group

PY - 2014/9/22

Y1 - 2014/9/22

N2 - Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

AB - Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

U2 - 10.1038/ncomms5883

DO - 10.1038/ncomms5883

M3 - Article

C2 - 25241763

SN - 2041-1723

VL - 5

JO - Nature Communications

JF - Nature Communications

M1 - 4883

ER -

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Abstract

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