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

Henriët Springelkamp; R Hohn; A Mishra; PG Hysi; CC Khor; SJ Loomis; JNC Bailey; J Gibson; G Thorleifsson; SF Janssen; XY Luo; Wishal Ramdas; E Vithana; ME Nongpiur; G Montgomery; L Xu; JE Mountain; P Gharahkhani; Y (Yi) Lu; Najaf Amin; Lennart Karssen; KS Sim; Elisa Leeuwen; AI Iglesias; Virginie Verhoeven; MA Hauser; SC Loon; Dominiek Despriet; A Nag; C Venturini; PG Sanfilippo; A Schillert; JH Kang; J Landers; F Jonasson; AJ Cree; Leonieke Koolwijk; Fernando Rivadeneira; E Souzeau; V Jonsson; G Menon; RN Weinreb; Ben Oostra; André Uitterlinden; Bert Hofman; S Ennis; U Thorsteinsdottir; KP Burdon; TD Spector; A Mirshahi; SM Saw; Hans Vingerling; YY Teo; JL Haines; R.C.W. Wolfs; HG Lemij; ES Tai; NM (Nomdo) Jansonius; JB Jonas; CY (Ching-Yu) Cheng; T Aung; AC Viswanathan; Caroline Klaver; JE Craig; S Macgregor; DA Mackey; AJ Lotery; K Stefansson; TL Young; JL Wiggs; N Pfeiffer; TY (Tien Yin) Wong; LR Pasquale; AW Hewitt; Cornelia Duijn; CJ Hammond; AAB Bergen

doi:10.1038/ncomms5883

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

Henriët Springelkamp, R Hohn, A Mishra, PG Hysi, CC Khor, SJ Loomis, JNC Bailey, J Gibson, G Thorleifsson, SF Janssen, XY Luo, Wishal Ramdas, E Vithana, ME Nongpiur, G Montgomery, L Xu, JE Mountain, P Gharahkhani, Y (Yi) Lu, Najaf AminLennart Karssen, KS Sim, Elisa Leeuwen, AI Iglesias, Virginie Verhoeven, MA Hauser, SC Loon, Dominiek Despriet, A Nag, C Venturini, PG Sanfilippo, A Schillert, JH Kang, J Landers, F Jonasson, AJ Cree, Leonieke Koolwijk, Fernando Rivadeneira, E Souzeau, V Jonsson, G Menon, RN Weinreb, Ben Oostra, André Uitterlinden, Bert Hofman, S Ennis, U Thorsteinsdottir, KP Burdon, TD Spector, A Mirshahi, SM Saw, Hans Vingerling, YY Teo, JL Haines, R.C.W. Wolfs, HG Lemij, ES Tai, NM (Nomdo) Jansonius, JB Jonas, CY (Ching-Yu) Cheng, T Aung, AC Viswanathan, Caroline Klaver, JE Craig, S Macgregor, DA Mackey, AJ Lotery, K Stefansson, TL Young, JL Wiggs, N Pfeiffer, TY (Tien Yin) Wong, LR Pasquale, AW Hewitt, Cornelia Duijn, CJ Hammond, AAB Bergen

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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	Undefined/Unknown
Journal	Nature Communications
Volume	5
DOIs	https://doi.org/10.1038/ncomms5883
Publication status	Published - 2014

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Cite this

Springelkamp, H., Hohn, R., Mishra, A., Hysi, PG., Khor, CC., Loomis, SJ., Bailey, JNC., Gibson, J., Thorleifsson, G., Janssen, SF., Luo, XY., Ramdas, W., Vithana, E., Nongpiur, ME., Montgomery, G., Xu, L., Mountain, JE., Gharahkhani, P., Lu, Y., ... Bergen, AAB. (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications, 5. https://doi.org/10.1038/ncomms5883

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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.",

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Springelkamp, H, Hohn, R, Mishra, A, Hysi, PG, Khor, CC, Loomis, SJ, Bailey, JNC, Gibson, J, Thorleifsson, G, Janssen, SF, Luo, XY, Ramdas, W, Vithana, E, Nongpiur, ME, Montgomery, G, Xu, L, Mountain, JE, Gharahkhani, P, Lu, Y, Amin, N, Karssen, L, Sim, KS, Leeuwen, E, Iglesias, AI, Verhoeven, V, Hauser, MA, Loon, SC, Despriet, D, Nag, A, Venturini, C, Sanfilippo, PG, Schillert, A, Kang, JH, Landers, J, Jonasson, F, Cree, AJ, Koolwijk, L, Rivadeneira, F, Souzeau, E, Jonsson, V, Menon, G, Weinreb, RN, Oostra, B, Uitterlinden, A , Hofman, B, Ennis, S, Thorsteinsdottir, U, Burdon, KP, Spector, TD, Mirshahi, A, Saw, SM, Vingerling, H, Teo, YY, Haines, JL, Wolfs, RCW, Lemij, HG, Tai, ES, Jansonius, NM, Jonas, JB, Cheng, CY, Aung, T, Viswanathan, AC, Klaver, C, Craig, JE, Macgregor, S, Mackey, DA, Lotery, AJ, Stefansson, K, Young, TL, Wiggs, JL, Pfeiffer, N, Wong, TY, Pasquale, LR, Hewitt, AW, Duijn, C, Hammond, CJ & Bergen, AAB 2014, 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, vol. 5. 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 - Hohn, R

AU - Mishra, A

AU - Hysi, PG

AU - Khor, CC

AU - Loomis, SJ

AU - Bailey, JNC

AU - Gibson, J

AU - Thorleifsson, G

AU - Janssen, SF

AU - Luo, XY

AU - Ramdas, Wishal

AU - Vithana, E

AU - Nongpiur, ME

AU - Montgomery, G

AU - Xu, L

AU - Mountain, JE

AU - Gharahkhani, P

AU - Lu, Y (Yi)

AU - Amin, Najaf

AU - Karssen, Lennart

AU - Sim, KS

AU - Leeuwen, Elisa

AU - Iglesias, AI

AU - Verhoeven, Virginie

AU - Hauser, MA

AU - Loon, SC

AU - Despriet, Dominiek

AU - Nag, A

AU - Venturini, C

AU - Sanfilippo, PG

AU - Schillert, A

AU - Kang, JH

AU - Landers, J

AU - Jonasson, F

AU - Cree, AJ

AU - Koolwijk, Leonieke

AU - Rivadeneira, Fernando

AU - Souzeau, E

AU - Jonsson, V

AU - Menon, G

AU - Weinreb, RN

AU - Oostra, Ben

AU - Uitterlinden, André

AU - Hofman, Bert

AU - Ennis, S

AU - Thorsteinsdottir, U

AU - Burdon, KP

AU - Spector, TD

AU - Mirshahi, A

AU - Saw, SM

AU - Vingerling, Hans

AU - Teo, YY

AU - Haines, JL

AU - Wolfs, R.C.W.

AU - Lemij, HG

AU - Tai, ES

AU - Jansonius, NM (Nomdo)

AU - Jonas, JB

AU - Cheng, CY (Ching-Yu)

AU - Aung, T

AU - Viswanathan, AC

AU - Klaver, Caroline

AU - Craig, JE

AU - Macgregor, S

AU - Mackey, DA

AU - Lotery, AJ

AU - Stefansson, K

AU - Young, TL

AU - Wiggs, JL

AU - Pfeiffer, N

AU - Wong, TY (Tien Yin)

AU - Pasquale, LR

AU - Hewitt, AW

AU - Duijn, Cornelia

AU - Hammond, CJ

AU - Bergen, AAB

PY - 2014

Y1 - 2014

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

SN - 2041-1723

VL - 5

JO - Nature Communications

JF - Nature Communications

ER -