Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Pirro G. Hysi; Ching-Yu Cheng; Henriët Springelkamp; Stuart Macgregor; Jessica N. Cooke Bailey; Robert Wojciechowski; Veronique Vitart; Abhishek Nag; Alex W. Hewitt; René Höhn; Cristina Venturini; Alireza Mirshahi; Wishal D. Ramdas; Gudmar Thorleifsson; Eranga Vithana; Chiea-Chuen Khor; Arni B. Stefansson; Jiemin Liao; Jonathan L. Haines; Najaf Amin; Ya Xing Wang; Philipp S. Wild; Ayse B. Ozel; Jun Z. Li; Brian W. Fleck; Tanja Zeller; Sandra E. Staffieri; Yik-Ying teo; Gabriel Cuellar-Partida; Xiaoyan Luo; R. Rand Allingham; Julia E. Richards; Andrea Senft; Lennart C. Karssen; Yingfeng Zheng; Céline Bellenguez; Liang Xu; Adriana I. Iglesias; James F. Wilson; Jae H. Kang; Elisabeth M. van Leeuwen; Vesteinn Jonsson; Unnur Thorsteinsdottir; Dominiek D. G. Despriet; Sarah Ennis; Sayoko E. Moroi; Nicholas G. Martin; Nomdo M. Jansonius; Seyhan Yazar; E.-Shyong Tai; Philippe Amouyel; James Kirwan; Leonieke M. E. van Koolwijk; Michael A. Hauser; Fridbert Jonasson; Paul Leo; Stephanie J. Loomis; Rhys Fogarty; Fernando Rivadeneira; Lisa Kearns; Karl J. Lackner; Paulus T. V. M. de Jong; Claire L. Simpson; Craig E. Pennell; Ben A. Oostra; André G. Uitterlinden; Seang-Mei Saw; Andrew J. Lotery; Joan E. Bailey-Wilson; Albert Hofman; Johannes R. Vingerling; Cécilia Maubaret; Norbert Pfeiffer; Roger C. W. Wolfs; Hans G. Lemij; Terri L. Young; Louis R. Pasquale; Cécile Delcourt; Timothy D. Spector; Caroline C. W. Klaver; Kerrin S. Small; Kathryn P. Burdon; Kari Stefansson; Tien-Yin Wong; Ananth Viswanathan; David A. Mackey; Jamie E. Craig; Janey L. Wiggs; Cornelia M. van Duijn; Christopher J. Hammond; Tin Aung

doi:10.1038/ng.3087

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Pirro G. Hysi
, Ching-Yu Cheng
, Henriët Springelkamp
, Stuart Macgregor
, Jessica N. Cooke Bailey
, Robert Wojciechowski
, Veronique Vitart
, Abhishek Nag
, Alex W. Hewitt
, René Höhn
, Cristina Venturini
, Alireza Mirshahi
, Wishal D. Ramdas
, Gudmar Thorleifsson
, Eranga Vithana
, Chiea-Chuen Khor
, Arni B. Stefansson
, Jiemin Liao
, Jonathan L. Haines
, Najaf Amin

Ya Xing Wang, Philipp S. Wild, Ayse B. Ozel, Jun Z. Li, Brian W. Fleck, Tanja Zeller, Sandra E. Staffieri, Yik-Ying teo, Gabriel Cuellar-Partida, Xiaoyan Luo, R. Rand Allingham, Julia E. Richards, Andrea Senft, Lennart C. Karssen, Yingfeng Zheng, Céline Bellenguez, Liang Xu, Adriana I. Iglesias, James F. Wilson, Jae H. Kang, Elisabeth M. van Leeuwen, Vesteinn Jonsson, Unnur Thorsteinsdottir, Dominiek D. G. Despriet, Sarah Ennis, Sayoko E. Moroi, Nicholas G. Martin, Nomdo M. Jansonius, Seyhan Yazar, E.-Shyong Tai, Philippe Amouyel, James Kirwan, Leonieke M. E. van Koolwijk, Michael A. Hauser, Fridbert Jonasson, Paul Leo, Stephanie J. Loomis, Rhys Fogarty, Fernando Rivadeneira, Lisa Kearns, Karl J. Lackner, Paulus T. V. M. de Jong, Claire L. Simpson, Craig E. Pennell, Ben A. Oostra, André G. Uitterlinden, Seang-Mei Saw, Andrew J. Lotery, Joan E. Bailey-Wilson, Albert Hofman, Johannes R. Vingerling, Cécilia Maubaret, Norbert Pfeiffer, Roger C. W. Wolfs, Hans G. Lemij, Terri L. Young, Louis R. Pasquale, Cécile Delcourt, Timothy D. Spector, Caroline C. W. Klaver, Kerrin S. Small, Kathryn P. Burdon, Kari Stefansson, Tien-Yin Wong, Ananth Viswanathan, David A. Mackey, Jamie E. Craig, Janey L. Wiggs, Cornelia M. van Duijn, Christopher J. Hammond, Tin Aung

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

Abstract

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG

Original language	English
Pages (from-to)	1126-1130
Journal	Nature genetics
Volume	46
Issue number	10
DOIs	https://doi.org/10.1038/ng.3087
Publication status	Published - 2014

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Hysi, P. G., Cheng, C.-Y., Springelkamp, H., Macgregor, S., Bailey, J. N. C., Wojciechowski, R., Vitart, V., Nag, A., Hewitt, A. W., Höhn, R., Venturini, C., Mirshahi, A., Ramdas, W. D., Thorleifsson, G., Vithana, E., Khor, C.-C., Stefansson, A. B., Liao, J., Haines, J. L., ... Aung, T. (2014). Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nature genetics, 46(10), 1126-1130. https://doi.org/10.1038/ng.3087

@article{febebd4500b344ab82b6cde29329ba0f,

title = "Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma",

abstract = "Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG",

author = "Hysi, \{Pirro G.\} and Ching-Yu Cheng and Henri{\"e}t Springelkamp and Stuart Macgregor and Bailey, \{Jessica N. Cooke\} and Robert Wojciechowski and Veronique Vitart and Abhishek Nag and Hewitt, \{Alex W.\} and Ren{\'e} H{\"o}hn and Cristina Venturini and Alireza Mirshahi and Ramdas, \{Wishal D.\} and Gudmar Thorleifsson and Eranga Vithana and Chiea-Chuen Khor and Stefansson, \{Arni B.\} and Jiemin Liao and Haines, \{Jonathan L.\} and Najaf Amin and Wang, \{Ya Xing\} and Wild, \{Philipp S.\} and Ozel, \{Ayse B.\} and Li, \{Jun Z.\} and Fleck, \{Brian W.\} and Tanja Zeller and Staffieri, \{Sandra E.\} and Yik-Ying teo and Gabriel Cuellar-Partida and Xiaoyan Luo and Allingham, \{R. Rand\} and Richards, \{Julia E.\} and Andrea Senft and Karssen, \{Lennart C.\} and Yingfeng Zheng and C{\'e}line Bellenguez and Liang Xu and Iglesias, \{Adriana I.\} and Wilson, \{James F.\} and Kang, \{Jae H.\} and \{van Leeuwen\}, \{Elisabeth M.\} and Vesteinn Jonsson and Unnur Thorsteinsdottir and Despriet, \{Dominiek D. G.\} and Sarah Ennis and Moroi, \{Sayoko E.\} and Martin, \{Nicholas G.\} and Jansonius, \{Nomdo M.\} and Seyhan Yazar and E.-Shyong Tai and Philippe Amouyel and James Kirwan and \{van Koolwijk\}, \{Leonieke M. E.\} and Hauser, \{Michael A.\} and Fridbert Jonasson and Paul Leo and Loomis, \{Stephanie J.\} and Rhys Fogarty and Fernando Rivadeneira and Lisa Kearns and Lackner, \{Karl J.\} and \{de Jong\}, \{Paulus T. V. M.\} and Simpson, \{Claire L.\} and Pennell, \{Craig E.\} and Oostra, \{Ben A.\} and Uitterlinden, \{Andr{\'e} G.\} and Seang-Mei Saw and Lotery, \{Andrew J.\} and Bailey-Wilson, \{Joan E.\} and Albert Hofman and Vingerling, \{Johannes R.\} and C{\'e}cilia Maubaret and Norbert Pfeiffer and Wolfs, \{Roger C. W.\} and Lemij, \{Hans G.\} and Young, \{Terri L.\} and Pasquale, \{Louis R.\} and C{\'e}cile Delcourt and Spector, \{Timothy D.\} and Klaver, \{Caroline C. W.\} and Small, \{Kerrin S.\} and Burdon, \{Kathryn P.\} and Kari Stefansson and Tien-Yin Wong and Ananth Viswanathan and Mackey, \{David A.\} and Craig, \{Jamie E.\} and Wiggs, \{Janey L.\} and \{van Duijn\}, \{Cornelia M.\} and Hammond, \{Christopher J.\} and Tin Aung",

year = "2014",

doi = "10.1038/ng.3087",

language = "English",

volume = "46",

pages = "1126--1130",

journal = "Nature genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "10",

}

Hysi, PG, Cheng, C-Y, Springelkamp, H, Macgregor, S, Bailey, JNC, Wojciechowski, R, Vitart, V, Nag, A, Hewitt, AW, Höhn, R, Venturini, C, Mirshahi, A, Ramdas, WD, Thorleifsson, G, Vithana, E, Khor, C-C, Stefansson, AB, Liao, J, Haines, JL, Amin, N, Wang, YX, Wild, PS, Ozel, AB, Li, JZ, Fleck, BW, Zeller, T, Staffieri, SE, teo, Y-Y, Cuellar-Partida, G, Luo, X, Allingham, RR, Richards, JE, Senft, A, Karssen, LC, Zheng, Y, Bellenguez, C, Xu, L, Iglesias, AI, Wilson, JF, Kang, JH, van Leeuwen, EM, Jonsson, V, Thorsteinsdottir, U, Despriet, DDG, Ennis, S, Moroi, SE, Martin, NG, Jansonius, NM, Yazar, S, Tai, E-S, Amouyel, P, Kirwan, J, van Koolwijk, LME, Hauser, MA, Jonasson, F, Leo, P, Loomis, SJ, Fogarty, R, Rivadeneira, F, Kearns, L, Lackner, KJ, de Jong, PTVM, Simpson, CL, Pennell, CE, Oostra, BA, Uitterlinden, AG, Saw, S-M, Lotery, AJ, Bailey-Wilson, JE, Hofman, A, Vingerling, JR, Maubaret, C, Pfeiffer, N, Wolfs, RCW, Lemij, HG, Young, TL, Pasquale, LR, Delcourt, C, Spector, TD, Klaver, CCW, Small, KS, Burdon, KP, Stefansson, K, Wong, T-Y, Viswanathan, A, Mackey, DA, Craig, JE, Wiggs, JL, van Duijn, CM, Hammond, CJ & Aung, T 2014, 'Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma', Nature genetics, vol. 46, no. 10, pp. 1126-1130. https://doi.org/10.1038/ng.3087

TY - JOUR

T1 - Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

AU - Hysi, Pirro G.

AU - Cheng, Ching-Yu

AU - Springelkamp, Henriët

AU - Macgregor, Stuart

AU - Bailey, Jessica N. Cooke

AU - Wojciechowski, Robert

AU - Vitart, Veronique

AU - Nag, Abhishek

AU - Hewitt, Alex W.

AU - Höhn, René

AU - Venturini, Cristina

AU - Mirshahi, Alireza

AU - Ramdas, Wishal D.

AU - Thorleifsson, Gudmar

AU - Vithana, Eranga

AU - Khor, Chiea-Chuen

AU - Stefansson, Arni B.

AU - Liao, Jiemin

AU - Haines, Jonathan L.

AU - Amin, Najaf

AU - Wang, Ya Xing

AU - Wild, Philipp S.

AU - Ozel, Ayse B.

AU - Li, Jun Z.

AU - Fleck, Brian W.

AU - Zeller, Tanja

AU - Staffieri, Sandra E.

AU - teo, Yik-Ying

AU - Cuellar-Partida, Gabriel

AU - Luo, Xiaoyan

AU - Allingham, R. Rand

AU - Richards, Julia E.

AU - Senft, Andrea

AU - Karssen, Lennart C.

AU - Zheng, Yingfeng

AU - Bellenguez, Céline

AU - Xu, Liang

AU - Iglesias, Adriana I.

AU - Wilson, James F.

AU - Kang, Jae H.

AU - van Leeuwen, Elisabeth M.

AU - Jonsson, Vesteinn

AU - Thorsteinsdottir, Unnur

AU - Despriet, Dominiek D. G.

AU - Ennis, Sarah

AU - Moroi, Sayoko E.

AU - Martin, Nicholas G.

AU - Jansonius, Nomdo M.

AU - Yazar, Seyhan

AU - Tai, E.-Shyong

AU - Amouyel, Philippe

AU - Kirwan, James

AU - van Koolwijk, Leonieke M. E.

AU - Hauser, Michael A.

AU - Jonasson, Fridbert

AU - Leo, Paul

AU - Loomis, Stephanie J.

AU - Fogarty, Rhys

AU - Rivadeneira, Fernando

AU - Kearns, Lisa

AU - Lackner, Karl J.

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

AU - Simpson, Claire L.

AU - Pennell, Craig E.

AU - Oostra, Ben A.

AU - Uitterlinden, André G.

AU - Saw, Seang-Mei

AU - Lotery, Andrew J.

AU - Bailey-Wilson, Joan E.

AU - Hofman, Albert

AU - Vingerling, Johannes R.

AU - Maubaret, Cécilia

AU - Pfeiffer, Norbert

AU - Wolfs, Roger C. W.

AU - Lemij, Hans G.

AU - Young, Terri L.

AU - Pasquale, Louis R.

AU - Delcourt, Cécile

AU - Spector, Timothy D.

AU - Klaver, Caroline C. W.

AU - Small, Kerrin S.

AU - Burdon, Kathryn P.

AU - Stefansson, Kari

AU - Wong, Tien-Yin

AU - Viswanathan, Ananth

AU - Mackey, David A.

AU - Craig, Jamie E.

AU - Wiggs, Janey L.

AU - van Duijn, Cornelia M.

AU - Hammond, Christopher J.

AU - Aung, Tin

PY - 2014

Y1 - 2014

N2 - Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG

AB - Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG

U2 - 10.1038/ng.3087

DO - 10.1038/ng.3087

M3 - Article

C2 - 25173106

SN - 1061-4036

VL - 46

SP - 1126

EP - 1130

JO - Nature genetics

JF - Nature genetics

IS - 10

ER -

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

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