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

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

doi:10.1093/hmg/ddv128

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

Zheng Li, R. Rand Allingham, Masakazu Nakano, Liyun Jia, Yuhong Chen, Yoko Ikeda, Baskaran Mani, Li Jia Chen, Changwon Kee, David F. Garway-Heath, Sarangapani Sripriya, Nobuo Fuse, Khaled K. Abu-Amero, Chukai Huang, Prasanthi Namburi, Kathryn Burdon, Shamira A. Perera, Puya Gharahkhani, Ying Lin, Morio UenoMineo Ozaki, Takanori Mizoguchi, Subbiah Ramasamy Krishnadas, Essam A. Osman, Mei Chin Lee, Anita S.Y. Chan, Liza Sharmini A. Tajudin, Tan Do, Aurelien Goncalves, Pascal Reynier, Hong Zhang, Rupert Bourne, David Goh, David Broadway, Rahat Husain, Anil K. Negi, Daniel H. Su, Ching Lin Ho, Augusto Azuara Blanco, Christopher K.S. Leung, Tina T. Wong, Azhany Yakub, Yutao Liu, Monisha E. Nongpiur, Jong Chul Han, Do Nhu Hon, Balekudaru Shantha, Bowen Zhao, Jinghong Sang, Ni Hong Zhang, Ryuichi Sato, Kengo Yoshii, Songhomita Panda-Jonas, Allison E. Ashley Koch, Leon W. Herndon, Sayoko E. Moroi, Pratap Challa, Jia Nee Foo, Jin Xin Bei, Yi Xin Zeng, Cameron P. Simmons, Tran Nguyen Bich Chau, Philomenadin Ferdinamarie Sharmila, Merwyn Chew, Blanche Lim, Pansy O.S. Tam, Elaine Chua, Xiao Yu Ng, Victor H.K. Yong, Yaan Fun Chong, Wee Yang Meah, Saravanan Vijayan, Sohn Seongsoo, Wang Xu, Yik Ying Teo, Jessica N. Cooke Bailey, Jae H. Kang, Jonathan L. Haines, Ching Yu Cheng, Seang Mei Saw, E. Shyong Tai, Julia E. Richards, Robert Ritch, Douglas E. Gaasterland, Louis R. Pasquale, Jianjun Liu, Jost B. Jonas, Dan Milea, Ronnie George, Saleh A. Al-Obeidan, Kazuhiko Mori, Stuart Macgregor, Alex W. Hewitt, Christopher A. Girkin, Mingzhi Zhang, Periasamy Sundaresan, Lingam Vijaya, David A. Mackey, Tien Yin Wong, Jamie E. Craig, Xinghuai Sun, Shigeru Kinoshita, Janey L. Wiggs, Chiea Chuen Khor, Zhenglin Yang, Chi Pui Pang, Ningli Wang, Michael A. Hauser, Kei Tashiro, Tin Aung, Eranga N. 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 (US)
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
State	Published - Jul 1 2015

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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10.1093/hmg/ddv128

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Li, Z., Allingham, R. R., Nakano, M., Jia, L., Chen, Y., Ikeda, Y., Mani, B., Chen, L. J., Kee, C., Garway-Heath, D. F., Sripriya, S., Fuse, N., Abu-Amero, K. K., Huang, C., Namburi, P., Burdon, K., Perera, S. A., Gharahkhani, P., Lin, Y., ... Vithana, E. N. (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

Li, Z, Allingham, RR, Nakano, M, Jia, L, Chen, Y, Ikeda, Y, Mani, B, Chen, LJ, Kee, C, Garway-Heath, DF, Sripriya, S, Fuse, N, Abu-Amero, KK, Huang, C, Namburi, P, Burdon, K, Perera, SA, Gharahkhani, P, Lin, Y, Ueno, M, Ozaki, M, Mizoguchi, T, Krishnadas, SR, Osman, EA, Lee, MC, Chan, ASY, Tajudin, LSA, Do, T, Goncalves, A, Reynier, P, Zhang, H, Bourne, R, Goh, D, Broadway, D, Husain, R, Negi, AK, Su, DH, Ho, CL, Blanco, AA, Leung, CKS, Wong, TT, Yakub, A, Liu, Y, Nongpiur, ME, Han, JC, Hon, DN, Shantha, B, Zhao, B, Sang, J, Zhang, NH, Sato, R, Yoshii, K, Panda-Jonas, S, Ashley Koch, AE, Herndon, LW, Moroi, SE, Challa, P, Foo, JN, Bei, JX, Zeng, YX, Simmons, CP, Bich Chau, TN, Sharmila, PF, Chew, M, Lim, B, Tam, POS, Chua, E, Ng, XY, Yong, VHK, Chong, YF, Meah, WY, Vijayan, S, Seongsoo, S, Xu, W, Teo, YY, Cooke Bailey, JN, Kang, JH, Haines, JL, Cheng, CY, Saw, SM, Tai, ES, Richards, JE, Ritch, R, Gaasterland, DE, Pasquale, LR, Liu, J, Jonas, JB, Milea, D, George, R, Al-Obeidan, SA, Mori, K, Macgregor, S, Hewitt, AW, Girkin, CA, Zhang, M, Sundaresan, P, Vijaya, L, Mackey, DA, Wong, TY, Craig, JE, Sun, X, Kinoshita, S, Wiggs, JL, Khor, CC, Yang, Z, Pang, CP, Wang, N, Hauser, MA, Tashiro, K, Aung, T & Vithana, EN 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

@article{e6ad072bb38f452b93f9e7fff2038ce3,

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 Allingham, {R. Rand} and Masakazu Nakano and Liyun Jia and Yuhong Chen and Yoko Ikeda and Baskaran Mani and Chen, {Li Jia} and Changwon Kee and Garway-Heath, {David F.} and Sarangapani Sripriya and Nobuo Fuse and Abu-Amero, {Khaled K.} and Chukai Huang and Prasanthi Namburi and Kathryn Burdon and Perera, {Shamira A.} and Puya Gharahkhani and Ying Lin and Morio Ueno and Mineo Ozaki and Takanori Mizoguchi and Krishnadas, {Subbiah Ramasamy} and Osman, {Essam A.} and Lee, {Mei Chin} and Chan, {Anita S.Y.} and Tajudin, {Liza Sharmini A.} 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 Negi, {Anil K.} and Su, {Daniel H.} and Ho, {Ching Lin} and Blanco, {Augusto Azuara} and Leung, {Christopher K.S.} and Wong, {Tina T.} and Azhany Yakub and Yutao Liu and Nongpiur, {Monisha E.} and Han, {Jong Chul} and Hon, {Do Nhu} and Balekudaru Shantha and Bowen Zhao and Jinghong Sang and Zhang, {Ni Hong} and Ryuichi Sato and Kengo Yoshii and Songhomita Panda-Jonas and {Ashley Koch}, {Allison E.} and Herndon, {Leon W.} and Moroi, {Sayoko E.} and Pratap Challa and Foo, {Jia Nee} and Bei, {Jin Xin} and Zeng, {Yi Xin} and Simmons, {Cameron P.} and {Bich Chau}, {Tran Nguyen} and Sharmila, {Philomenadin Ferdinamarie} and Merwyn Chew and Blanche Lim and Tam, {Pansy O.S.} and Elaine Chua and Ng, {Xiao Yu} and Yong, {Victor H.K.} and Chong, {Yaan Fun} and Meah, {Wee Yang} and Saravanan Vijayan and Sohn Seongsoo and Wang Xu and Teo, {Yik Ying} and {Cooke Bailey}, {Jessica N.} and Kang, {Jae H.} and Haines, {Jonathan L.} and Cheng, {Ching Yu} and Saw, {Seang Mei} and Tai, {E. Shyong} and Richards, {Julia E.} and Robert Ritch and Gaasterland, {Douglas E.} and Pasquale, {Louis R.} and Jianjun Liu and Jonas, {Jost B.} and Dan Milea and Ronnie George and Al-Obeidan, {Saleh A.} and Kazuhiko Mori and Stuart Macgregor and Hewitt, {Alex W.} and Girkin, {Christopher A.} and Mingzhi Zhang and Periasamy Sundaresan and Lingam Vijaya and Mackey, {David A.} and Wong, {Tien Yin} and Craig, {Jamie E.} and Xinghuai Sun and Shigeru Kinoshita and Wiggs, {Janey L.} and Khor, {Chiea Chuen} and Zhenglin Yang and Pang, {Chi Pui} and Ningli Wang and Hauser, {Michael A.} and Kei Tashiro and Tin Aung and Vithana, {Eranga N.}",

year = "2015",

month = jul,

day = "1",

doi = "10.1093/hmg/ddv128",

language = "English (US)",

volume = "24",

pages = "3880--3892",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "13",

}

TY - JOUR

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

AU - Li, Zheng

AU - Allingham, R. Rand

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 F.

AU - Sripriya, Sarangapani

AU - Fuse, Nobuo

AU - Abu-Amero, Khaled K.

AU - Huang, Chukai

AU - Namburi, Prasanthi

AU - Burdon, Kathryn

AU - Perera, Shamira A.

AU - Gharahkhani, Puya

AU - Lin, Ying

AU - Ueno, Morio

AU - Ozaki, Mineo

AU - Mizoguchi, Takanori

AU - Krishnadas, Subbiah Ramasamy

AU - Osman, Essam A.

AU - Lee, Mei Chin

AU - Chan, Anita S.Y.

AU - Tajudin, Liza Sharmini A.

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 K.

AU - Su, Daniel H.

AU - Ho, Ching Lin

AU - Blanco, Augusto Azuara

AU - Leung, Christopher K.S.

AU - Wong, Tina T.

AU - Yakub, Azhany

AU - Liu, Yutao

AU - Nongpiur, Monisha E.

AU - Han, Jong Chul

AU - Hon, Do Nhu

AU - Shantha, Balekudaru

AU - Zhao, Bowen

AU - Sang, Jinghong

AU - Zhang, Ni Hong

AU - Sato, Ryuichi

AU - Yoshii, Kengo

AU - Panda-Jonas, Songhomita

AU - Ashley Koch, Allison E.

AU - Herndon, Leon W.

AU - Moroi, Sayoko E.

AU - Challa, Pratap

AU - Foo, Jia Nee

AU - Bei, Jin Xin

AU - Zeng, Yi Xin

AU - Simmons, Cameron P.

AU - Bich Chau, Tran Nguyen

AU - Sharmila, Philomenadin Ferdinamarie

AU - Chew, Merwyn

AU - Lim, Blanche

AU - Tam, Pansy O.S.

AU - Chua, Elaine

AU - Ng, Xiao Yu

AU - Yong, Victor H.K.

AU - Chong, Yaan Fun

AU - Meah, Wee Yang

AU - Vijayan, Saravanan

AU - Seongsoo, Sohn

AU - Xu, Wang

AU - Teo, Yik Ying

AU - Cooke Bailey, Jessica N.

AU - Kang, Jae H.

AU - Haines, Jonathan L.

AU - Cheng, Ching Yu

AU - Saw, Seang Mei

AU - Tai, E. Shyong

AU - Richards, Julia E.

AU - Ritch, Robert

AU - Gaasterland, Douglas E.

AU - Pasquale, Louis R.

AU - Liu, Jianjun

AU - Jonas, Jost B.

AU - Milea, Dan

AU - George, Ronnie

AU - Al-Obeidan, Saleh A.

AU - Mori, Kazuhiko

AU - Macgregor, Stuart

AU - Hewitt, Alex W.

AU - Girkin, Christopher A.

AU - Zhang, Mingzhi

AU - Sundaresan, Periasamy

AU - Vijaya, Lingam

AU - Mackey, David A.

AU - Wong, Tien Yin

AU - Craig, Jamie E.

AU - Sun, Xinghuai

AU - Kinoshita, Shigeru

AU - Wiggs, Janey L.

AU - Khor, Chiea Chuen

AU - Yang, Zhenglin

AU - Pang, Chi Pui

AU - Wang, Ningli

AU - Hauser, Michael A.

AU - Tashiro, Kei

AU - Aung, Tin

AU - Vithana, Eranga N.

PY - 2015/7/1

Y1 - 2015/7/1

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.

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UR - http://www.scopus.com/inward/citedby.url?scp=84936752130&partnerID=8YFLogxK

U2 - 10.1093/hmg/ddv128

DO - 10.1093/hmg/ddv128

M3 - Article

C2 - 25861811

AN - SCOPUS:84936752130

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

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