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

Z. Li; R.R. Allingham; M. Nakano; L. Jia; Y. Chen; Y. Ikeda; B. Mani; L.J. Chen; C. Kee; D.F. Garway-Heath; S. Sripriya; N. Fuse; K.K. Abu-Amero; C. Huang; P. Namburi; K. Burdon; S.A. Perera; P. Gharahkhani; Y. Lin; M. Ueno; M. Ozaki; T. Mizoguchi; S.R. Krishnadas; E.A. Osman; M.C. Lee; A.S.Y. Chan; L.S.A. Tajudin; T. Do; A. Goncalves; P. Reynier; H. Zhang; R. Bourne; D. Goh; D. Broadway; R. Husain; A.K. Negi; D.H. Su; C.L. Ho; A.A. Blanco; C.K.S. Leung; T.T. Wong; A. Yakub; Y. Liu; M.E. Nongpiur; J.C. Han; D.N. Hon; B. Shantha; B. Zhao; J. Sang; N. Zhang; R. Sato; K. Yoshii; S. Panda-Jonas; A.E. Ashley Koch; L.W. Herndon; S.E. Moroi; P. Challa; J.N. Foo; J.X. Bei; Y.X. Zeng; C.P. Simmons; T.N. Bich Chau; P.F. Sharmila; M. Chew; B. Lim; P.O.S. Tam; E. Chua; X.Y. Ng; V.H.K. Yong; Y.F. Chong; W.Y. Meah; S. Vijayan; S. Seongsoo; W. Xu; Y.Y. Teo; J.N. Cooke Bailey; J.H. Kang; J.L. Haines; C.Y. Cheng; S.M. Saw; E.S. Tai; J.E. Richards; R. Ritch; D.E. Gaasterland; L.R. Pasquale; J. Liu; J.B. Jonas; D. Milea; R. George; S.A. Al-Obeidan; K. Mori; S. Macgregor; A.W. Hewitt; C.A. Girkin; M. Zhang; P. Sundaresan; L. Vijaya; David Mackey; T.Y. Wong; J.E. Craig; X. Sun; S. Kinoshita; J.L. Wiggs; C.C. Khor; Z. Yang; C.P. Pang; N. Wang; M.A. Hauser; K. Tashiro; T. Aung; E.N. Vithana

doi:10.1093/hmg/ddv128

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

Z. Li, R.R. Allingham, M. Nakano, L. Jia, Y. Chen, Y. Ikeda, B. Mani, L.J. Chen, C. Kee, D.F. Garway-Heath, S. Sripriya, N. Fuse, K.K. Abu-Amero, C. Huang, P. Namburi, K. Burdon, S.A. Perera, P. Gharahkhani, Y. Lin, M. UenoM. Ozaki, T. Mizoguchi, S.R. Krishnadas, E.A. Osman, M.C. Lee, A.S.Y. Chan, L.S.A. Tajudin, T. Do, A. Goncalves, P. Reynier, H. Zhang, R. Bourne, D. Goh, D. Broadway, R. Husain, A.K. Negi, D.H. Su, C.L. Ho, A.A. Blanco, C.K.S. Leung, T.T. Wong, A. Yakub, Y. Liu, M.E. Nongpiur, J.C. Han, D.N. Hon, B. Shantha, B. Zhao, J. Sang, N. Zhang, R. Sato, K. Yoshii, S. Panda-Jonas, A.E. Ashley Koch, L.W. Herndon, S.E. Moroi, P. Challa, J.N. Foo, J.X. Bei, Y.X. Zeng, C.P. Simmons, T.N. Bich Chau, P.F. Sharmila, M. Chew, B. Lim, P.O.S. Tam, E. Chua, X.Y. Ng, V.H.K. Yong, Y.F. Chong, W.Y. Meah, S. Vijayan, S. Seongsoo, W. Xu, Y.Y. Teo, J.N. Cooke Bailey, J.H. Kang, J.L. Haines, C.Y. Cheng, S.M. Saw, E.S. Tai, J.E. Richards, R. Ritch, D.E. Gaasterland, L.R. Pasquale, J. Liu, J.B. Jonas, D. Milea, R. George, S.A. Al-Obeidan, K. Mori, S. Macgregor, A.W. Hewitt, C.A. Girkin, M. Zhang, P. Sundaresan, L. Vijaya, David Mackey, T.Y. Wong, J.E. Craig, X. Sun, S. Kinoshita, J.L. Wiggs, C.C. Khor, Z. Yang, C.P. Pang, N. Wang, M.A. Hauser, K. Tashiro, T. Aung, E.N. Vithana

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

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

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Abstract

© The Author 2015. Published by Oxford University Press. All rights reserved. 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.

Original language	English
Pages (from-to)	3880-3892
Number of pages	13
Journal	Human Molecular Genetics
Volume	24
Issue number	13
Early online date	10 Apr 2015
DOIs	https://doi.org/10.1093/hmg/ddv128
Publication status	Published - 2015

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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

@article{36b8d39329fd46e490ea78d41ec58ec0,

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

abstract = "{\textcopyright} The Author 2015. Published by Oxford University Press. All rights reserved. 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 = "Z. Li and R.R. Allingham and M. Nakano and L. Jia and Y. Chen and Y. Ikeda and B. Mani and L.J. Chen and C. Kee and D.F. Garway-Heath and S. Sripriya and N. Fuse and K.K. Abu-Amero and C. Huang and P. Namburi and K. Burdon and S.A. Perera and P. Gharahkhani and Y. Lin and M. Ueno and M. Ozaki and T. Mizoguchi and S.R. Krishnadas and E.A. Osman and M.C. Lee and A.S.Y. Chan and L.S.A. Tajudin and T. Do and A. Goncalves and P. Reynier and H. Zhang and R. Bourne and D. Goh and D. Broadway and R. Husain and A.K. Negi and D.H. Su and C.L. Ho and A.A. Blanco and C.K.S. Leung and T.T. Wong and A. Yakub and Y. Liu and M.E. Nongpiur and J.C. Han and D.N. Hon and B. Shantha and B. Zhao and J. Sang and N. Zhang and R. Sato and K. Yoshii and S. Panda-Jonas and {Ashley Koch}, A.E. and L.W. Herndon and S.E. Moroi and P. Challa and J.N. Foo and J.X. Bei and Y.X. Zeng and C.P. Simmons and {Bich Chau}, T.N. and P.F. Sharmila and M. Chew and B. Lim and P.O.S. Tam and E. Chua and X.Y. Ng and V.H.K. Yong and Y.F. Chong and W.Y. Meah and S. Vijayan and S. Seongsoo and W. Xu and Y.Y. Teo and {Cooke Bailey}, J.N. and J.H. Kang and J.L. Haines and C.Y. Cheng and S.M. Saw and E.S. Tai and J.E. Richards and R. Ritch and D.E. Gaasterland and L.R. Pasquale and J. Liu and J.B. Jonas and D. Milea and R. George and S.A. Al-Obeidan and K. Mori and S. Macgregor and A.W. Hewitt and C.A. Girkin and M. Zhang and P. Sundaresan and L. Vijaya and David Mackey and T.Y. Wong and J.E. Craig and X. Sun and S. Kinoshita and J.L. Wiggs and C.C. Khor and Z. Yang and C.P. Pang and N. Wang and M.A. Hauser and K. Tashiro and T. Aung and E.N. 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, 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, N, 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, D, 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

TY - JOUR

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

AU - Li, Z.

AU - Allingham, R.R.

AU - Nakano, M.

AU - Jia, L.

AU - Chen, Y.

AU - Ikeda, Y.

AU - Mani, B.

AU - Chen, L.J.

AU - Kee, C.

AU - Garway-Heath, D.F.

AU - Sripriya, S.

AU - Fuse, N.

AU - Abu-Amero, K.K.

AU - Huang, C.

AU - Namburi, P.

AU - Burdon, K.

AU - Perera, S.A.

AU - Gharahkhani, P.

AU - Lin, Y.

AU - Ueno, M.

AU - Ozaki, M.

AU - Mizoguchi, T.

AU - Krishnadas, S.R.

AU - Osman, E.A.

AU - Lee, M.C.

AU - Chan, A.S.Y.

AU - Tajudin, L.S.A.

AU - Do, T.

AU - Goncalves, A.

AU - Reynier, P.

AU - Zhang, H.

AU - Bourne, R.

AU - Goh, D.

AU - Broadway, D.

AU - Husain, R.

AU - Negi, A.K.

AU - Su, D.H.

AU - Ho, C.L.

AU - Blanco, A.A.

AU - Leung, C.K.S.

AU - Wong, T.T.

AU - Yakub, A.

AU - Liu, Y.

AU - Nongpiur, M.E.

AU - Han, J.C.

AU - Hon, D.N.

AU - Shantha, B.

AU - Zhao, B.

AU - Sang, J.

AU - Zhang, N.

AU - Sato, R.

AU - Yoshii, K.

AU - Panda-Jonas, S.

AU - Ashley Koch, A.E.

AU - Herndon, L.W.

AU - Moroi, S.E.

AU - Challa, P.

AU - Foo, J.N.

AU - Bei, J.X.

AU - Zeng, Y.X.

AU - Simmons, C.P.

AU - Bich Chau, T.N.

AU - Sharmila, P.F.

AU - Chew, M.

AU - Lim, B.

AU - Tam, P.O.S.

AU - Chua, E.

AU - Ng, X.Y.

AU - Yong, V.H.K.

AU - Chong, Y.F.

AU - Meah, W.Y.

AU - Vijayan, S.

AU - Seongsoo, S.

AU - Xu, W.

AU - Teo, Y.Y.

AU - Cooke Bailey, J.N.

AU - Kang, J.H.

AU - Haines, J.L.

AU - Cheng, C.Y.

AU - Saw, S.M.

AU - Tai, E.S.

AU - Richards, J.E.

AU - Ritch, R.

AU - Gaasterland, D.E.

AU - Pasquale, L.R.

AU - Liu, J.

AU - Jonas, J.B.

AU - Milea, D.

AU - George, R.

AU - Al-Obeidan, S.A.

AU - Mori, K.

AU - Macgregor, S.

AU - Hewitt, A.W.

AU - Girkin, C.A.

AU - Zhang, M.

AU - Sundaresan, P.

AU - Vijaya, L.

AU - Mackey, David

AU - Wong, T.Y.

AU - Craig, J.E.

AU - Sun, X.

AU - Kinoshita, S.

AU - Wiggs, J.L.

AU - Khor, C.C.

AU - Yang, Z.

AU - Pang, C.P.

AU - Wang, N.

AU - Hauser, M.A.

AU - Tashiro, K.

AU - Aung, T.

AU - Vithana, E.N.

PY - 2015

Y1 - 2015

N2 - © The Author 2015. Published by Oxford University Press. All rights reserved. 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 - © The Author 2015. Published by Oxford University Press. All rights reserved. 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

C2 - 25861811

VL - 24

SP - 3880

EP - 3892

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 13

ER -

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

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