A common variant near TGFBR3 is associated with primary open angle glaucoma

Zheng Li; R Allingham; Masakazu Nakano; Liyun Jia; Yuhong Chen; Yoko Ikeda; Baskaran Mani; Li-Jia Chen; Changwon Kee; David Garway-Heath; Sarangapani Sripriya; Nobuo Fuse; Khalid Abu-Amero; Chukai Huang; Prasanthi Namburi; Kathryn Burdon; Shamira Perera; Puya Gharahkhani; Ying Lin; Morio Ueno; Ozaki Mineo; Takanori Mizoguchi; Subbaiah Krishnadas; Essam Osam; Mei Lee; Anita Chan; Liza-Sharmini Tajudin; Tan Do; Aurelien Goncalves; Pascal Reynier; Hong Zhang; Rupert Bourne; David Goh; David Broadway; Rahat Husain; Anil Negi; Daniel Su; Ching-Lin Ho; Augusto Blanco; Christopher Leung; Tina Wong; Azhany Yakub; Yutao Liu; Monisha Nongpiur; Jong Han; Do Hon; Balekudaru Shantha; Bowen Zhao; Jinghong Sang; NiHong Zhang; Ryuichi Sato; Kengi Yoshii; Songhomita Pandas-Jones; Allison Koch; Leon Herndon; Sayoko Moroi; Pratap Challa; Jia-Nee Foo; Jin-Xin Bei; Yi-Xin Zeng; Cameron Simmons; Philomenadin Sharmila; Merwyn Chew; Blanche Lim; Pansy Tam; Elaine Chua; Xiao Ng; Victor Yong; Yaan Chong; Wee Meah; Saravanan Vijayan; Sohn Seongsoo; Wang Xu; Yik Ying Teo; Jessica Bailey Cooke; Jae Kang; Jonathan Haines; Ching-Yu Cheng; Seang-Mei Saw; E-Shyong Tai; Julia Richards; Robert Ritch; Douglas Gaasterland; Louis Pasquale; Jianjun Liu; Jost Jonas; Dan Milea; Ronnie George; Saleh Al-Obeidan; Kazuhiko Mori; Stuart Macgregor; Alex Hewitt; Christopher Girkin; Mingzhi Zhang; Periasamy Sundaresan; Lingam Vijaya; David Mackey; Tien-Yin Wong; Jamie Craig; Xinghuai Sun; Shigeru Kinoshita; Janey Wiggs; Chiea Khor; Zhenglin Yang; Chi Pui Pang; Ningli Wang; Michael Hauser; Kei Tashiro; Tin Aung; Eranga Vithana

doi:10.1093/hmg/ddv128

A common variant near TGFBR3 is associated with primary open angle glaucoma

Zheng Li, R Allingham, Masakazu Nakano, Liyun Jia, Yuhong Chen, Yoko Ikeda, Baskaran Mani, Li-Jia Chen, Changwon Kee, David Garway-Heath, Sarangapani Sripriya, Nobuo Fuse, Khalid Abu-Amero, Chukai Huang, Prasanthi Namburi, Kathryn Burdon, Shamira Perera, Puya Gharahkhani, Ying Lin, Morio UenoOzaki Mineo, Takanori Mizoguchi, Subbaiah Krishnadas, Essam Osam, Mei Lee, Anita Chan, Liza-Sharmini Tajudin, Tan Do, Aurelien Goncalves, Pascal Reynier, Hong Zhang, Rupert Bourne, David Goh, David Broadway, Rahat Husain, Anil Negi, Daniel Su, Ching-Lin Ho, Augusto Blanco, Christopher Leung, Tina Wong, Azhany Yakub, Yutao Liu, Monisha Nongpiur, Jong Han, Do Hon, Balekudaru Shantha, Bowen Zhao, Jinghong Sang, NiHong Zhang, Ryuichi Sato, Kengi Yoshii, Songhomita Pandas-Jones, Allison Koch, Leon Herndon, Sayoko Moroi, Pratap Challa, Jia-Nee Foo, Jin-Xin Bei, Yi-Xin Zeng, Cameron Simmons, Philomenadin Sharmila, Merwyn Chew, Blanche Lim, Pansy Tam, Elaine Chua, Xiao Ng, Victor Yong, Yaan Chong, Wee Meah, Saravanan Vijayan, Sohn Seongsoo, Wang Xu, Yik Ying Teo, Jessica Bailey Cooke, Jae Kang, Jonathan Haines, Ching-Yu Cheng, Seang-Mei Saw, E-Shyong Tai, Julia Richards, Robert Ritch, Douglas Gaasterland, Louis Pasquale, Jianjun Liu, Jost Jonas, Dan Milea, Ronnie George, Saleh Al-Obeidan, Kazuhiko Mori, Stuart Macgregor, Alex Hewitt, Christopher Girkin, Mingzhi Zhang, Periasamy Sundaresan, Lingam Vijaya, David Mackey, Tien-Yin Wong, Jamie Craig, Xinghuai Sun, Shigeru Kinoshita, Janey Wiggs, Chiea Khor, Zhenglin Yang, Chi Pui Pang, Ningli Wang, Michael Hauser, Kei Tashiro, Tin Aung, Eranga Vithana

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Abstract

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10^-33), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, OR_G-allele = 1.13, P_meta = 1.60 × 10^-8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.

Original language	English
Pages (from-to)	3880-3892
Number of pages	13
Journal	Human Molecular Genetics
Volume	24
Issue number	13
DOIs	https://doi.org/10.1093/hmg/ddv128
Publication status	Published - 2015

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10.1093/hmg/ddv128

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Li, Z., Allingham, R., Nakano, M., Jia, L., Chen, Y., Ikeda, Y., Mani, B., Chen, L.-J., Kee, C., Garway-Heath, D., Sripriya, S., Fuse, N., Abu-Amero, K., Huang, C., Namburi, P., Burdon, K., Perera, S., Gharahkhani, P., Lin, Y., ... Vithana, E. (2015). A common variant near TGFBR3 is associated with primary open angle glaucoma. Human Molecular Genetics, 24(13), 3880-3892. https://doi.org/10.1093/hmg/ddv128

@article{ed75085d977c456fa22e19b5c4cf91ce,

title = "A common variant near TGFBR3 is associated with primary open angle glaucoma",

abstract = "Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10-33), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10-8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.",

author = "Zheng Li and R Allingham and Masakazu Nakano and Liyun Jia and Yuhong Chen and Yoko Ikeda and Baskaran Mani and Li-Jia Chen and Changwon Kee and David Garway-Heath and Sarangapani Sripriya and Nobuo Fuse and Khalid Abu-Amero and Chukai Huang and Prasanthi Namburi and Kathryn Burdon and Shamira Perera and Puya Gharahkhani and Ying Lin and Morio Ueno and Ozaki Mineo and Takanori Mizoguchi and Subbaiah Krishnadas and Essam Osam and Mei Lee and Anita Chan and Liza-Sharmini Tajudin and Tan Do and Aurelien Goncalves and Pascal Reynier and Hong Zhang and Rupert Bourne and David Goh and David Broadway and Rahat Husain and Anil Negi and Daniel Su and Ching-Lin Ho and Augusto Blanco and Christopher Leung and Tina Wong and Azhany Yakub and Yutao Liu and Monisha Nongpiur and Jong Han and Do Hon and Balekudaru Shantha and Bowen Zhao and Jinghong Sang and NiHong Zhang and Ryuichi Sato and Kengi Yoshii and Songhomita Pandas-Jones and Allison Koch and Leon Herndon and Sayoko Moroi and Pratap Challa and Jia-Nee Foo and Jin-Xin Bei and Yi-Xin Zeng and Cameron Simmons and Philomenadin Sharmila and Merwyn Chew and Blanche Lim and Pansy Tam and Elaine Chua and Xiao Ng and Victor Yong and Yaan Chong and Wee Meah and Saravanan Vijayan and Sohn Seongsoo and Wang Xu and Teo, {Yik Ying} and {Bailey Cooke}, Jessica and Jae Kang and Jonathan Haines and Ching-Yu Cheng and Seang-Mei Saw and E-Shyong Tai and Julia Richards and Robert Ritch and Douglas Gaasterland and Louis Pasquale and Jianjun Liu and Jost Jonas and Dan Milea and Ronnie George and Saleh Al-Obeidan and Kazuhiko Mori and Stuart Macgregor and Alex Hewitt and Christopher Girkin and Mingzhi Zhang and Periasamy Sundaresan and Lingam Vijaya and David Mackey and Tien-Yin Wong and Jamie Craig and Xinghuai Sun and Shigeru Kinoshita and Janey Wiggs and Chiea Khor and Zhenglin Yang and Pang, {Chi Pui} and Ningli Wang and Michael Hauser and Kei Tashiro and Tin Aung and Eranga Vithana",

year = "2015",

doi = "10.1093/hmg/ddv128",

language = "English",

volume = "24",

pages = "3880--3892",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "13",

}

Li, Z, Allingham, R, Nakano, M, Jia, L, Chen, Y, Ikeda, Y, Mani, B, Chen, L-J, Kee, C, Garway-Heath, D, Sripriya, S, Fuse, N, Abu-Amero, K, Huang, C, Namburi, P, Burdon, K, Perera, S, Gharahkhani, P, Lin, Y, Ueno, M, Mineo, O, Mizoguchi, T, Krishnadas, S, Osam, E, Lee, M, Chan, A, Tajudin, L-S, Do, T, Goncalves, A, Reynier, P, Zhang, H, Bourne, R, Goh, D, Broadway, D, Husain, R, Negi, A, Su, D, Ho, C-L, Blanco, A, Leung, C, Wong, T, Yakub, A, Liu, Y, Nongpiur, M, Han, J, Hon, D, Shantha, B, Zhao, B, Sang, J, Zhang, N, Sato, R, Yoshii, K, Pandas-Jones, S, Koch, A, Herndon, L, Moroi, S, Challa, P, Foo, J-N, Bei, J-X, Zeng, Y-X, Simmons, C, Sharmila, P, Chew, M, Lim, B, Tam, P, Chua, E, Ng, X, Yong, V, Chong, Y, Meah, W, Vijayan, S, Seongsoo, S, Xu, W, Teo, YY, Bailey Cooke, J, Kang, J, Haines, J, Cheng, C-Y, Saw, S-M, Tai, E-S, Richards, J, Ritch, R, Gaasterland, D, Pasquale, L, Liu, J, Jonas, J, Milea, D, George, R, Al-Obeidan, S, Mori, K, Macgregor, S, Hewitt, A, Girkin, C, Zhang, M, Sundaresan, P, Vijaya, L, Mackey, D, Wong, T-Y, Craig, J, Sun, X, Kinoshita, S, Wiggs, J, Khor, C, Yang, Z, Pang, CP, Wang, N, Hauser, M, Tashiro, K, Aung, T & Vithana, E 2015, 'A common variant near TGFBR3 is associated with primary open angle glaucoma', Human Molecular Genetics, vol. 24, no. 13, pp. 3880-3892. https://doi.org/10.1093/hmg/ddv128

TY - JOUR

T1 - A common variant near TGFBR3 is associated with primary open angle glaucoma

AU - Li, Zheng

AU - Allingham, R

AU - Nakano, Masakazu

AU - Jia, Liyun

AU - Chen, Yuhong

AU - Ikeda, Yoko

AU - Mani, Baskaran

AU - Chen, Li-Jia

AU - Kee, Changwon

AU - Garway-Heath, David

AU - Sripriya, Sarangapani

AU - Fuse, Nobuo

AU - Abu-Amero, Khalid

AU - Huang, Chukai

AU - Namburi, Prasanthi

AU - Burdon, Kathryn

AU - Perera, Shamira

AU - Gharahkhani, Puya

AU - Lin, Ying

AU - Ueno, Morio

AU - Mineo, Ozaki

AU - Mizoguchi, Takanori

AU - Krishnadas, Subbaiah

AU - Osam, Essam

AU - Lee, Mei

AU - Chan, Anita

AU - Tajudin, Liza-Sharmini

AU - Do, Tan

AU - Goncalves, Aurelien

AU - Reynier, Pascal

AU - Zhang, Hong

AU - Bourne, Rupert

AU - Goh, David

AU - Broadway, David

AU - Husain, Rahat

AU - Negi, Anil

AU - Su, Daniel

AU - Ho, Ching-Lin

AU - Blanco, Augusto

AU - Leung, Christopher

AU - Wong, Tina

AU - Yakub, Azhany

AU - Liu, Yutao

AU - Nongpiur, Monisha

AU - Han, Jong

AU - Hon, Do

AU - Shantha, Balekudaru

AU - Zhao, Bowen

AU - Sang, Jinghong

AU - Zhang, NiHong

AU - Sato, Ryuichi

AU - Yoshii, Kengi

AU - Pandas-Jones, Songhomita

AU - Koch, Allison

AU - Herndon, Leon

AU - Moroi, Sayoko

AU - Challa, Pratap

AU - Foo, Jia-Nee

AU - Bei, Jin-Xin

AU - Zeng, Yi-Xin

AU - Simmons, Cameron

AU - Sharmila, Philomenadin

AU - Chew, Merwyn

AU - Lim, Blanche

AU - Tam, Pansy

AU - Chua, Elaine

AU - Ng, Xiao

AU - Yong, Victor

AU - Chong, Yaan

AU - Meah, Wee

AU - Vijayan, Saravanan

AU - Seongsoo, Sohn

AU - Xu, Wang

AU - Teo, Yik Ying

AU - Bailey Cooke, Jessica

AU - Kang, Jae

AU - Haines, Jonathan

AU - Cheng, Ching-Yu

AU - Saw, Seang-Mei

AU - Tai, E-Shyong

AU - Richards, Julia

AU - Ritch, Robert

AU - Gaasterland, Douglas

AU - Pasquale, Louis

AU - Liu, Jianjun

AU - Jonas, Jost

AU - Milea, Dan

AU - George, Ronnie

AU - Al-Obeidan, Saleh

AU - Mori, Kazuhiko

AU - Macgregor, Stuart

AU - Hewitt, Alex

AU - Girkin, Christopher

AU - Zhang, Mingzhi

AU - Sundaresan, Periasamy

AU - Vijaya, Lingam

AU - Mackey, David

AU - Wong, Tien-Yin

AU - Craig, Jamie

AU - Sun, Xinghuai

AU - Kinoshita, Shigeru

AU - Wiggs, Janey

AU - Khor, Chiea

AU - Yang, Zhenglin

AU - Pang, Chi Pui

AU - Wang, Ningli

AU - Hauser, Michael

AU - Tashiro, Kei

AU - Aung, Tin

AU - Vithana, Eranga

PY - 2015

Y1 - 2015

N2 - Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10-33), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10-8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.

AB - Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10-33), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10-8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.

U2 - 10.1093/hmg/ddv128

DO - 10.1093/hmg/ddv128

M3 - Article

SN - 0964-6906

VL - 24

SP - 3880

EP - 3892

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 13

ER -

A common variant near TGFBR3 is associated with primary open angle glaucoma

Abstract

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