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

dc.contributor.author Li, Zheng
dc.contributor.author Allingham, R Rand
dc.contributor.author Nakano, Masakazu
dc.contributor.author Jia, Liyun
dc.contributor.author Chen, Yuhong
dc.contributor.author Ikeda, Yoko
dc.contributor.author Mani, Baskaran
dc.contributor.author Chen, Li-Jia
dc.contributor.author Kee, Changwon
dc.contributor.author Garway-Heath, David F
dc.contributor.author Sarangapani, Sripriya
dc.contributor.author Fuse, Nobuo
dc.contributor.author Abu-Amero, Khaled K
dc.contributor.author Huang, Chukai
dc.contributor.author Namburi, Prasanthi
dc.contributor.author Burdon, Kathryn Penelope
dc.contributor.author Perera, Shamira A
dc.contributor.author Gharahkhani, Puya
dc.contributor.author Lin, Ying
dc.contributor.author Ueno, Morio
dc.contributor.author Ozaki, Mineo
dc.contributor.author Mizoguchi, Takanori
dc.contributor.author Krishnadas, Subbiah Ramasamy
dc.contributor.author Osman, Essam A
dc.contributor.author Lee, Mei Chin
dc.contributor.author Chan, Anita S Y
dc.contributor.author Tajudin, Liza-Sharmini A
dc.contributor.author Do, Tan
dc.contributor.author Goncalves, Aurelien
dc.contributor.author Reynier, Pascal
dc.contributor.author Zhang, Hong
dc.contributor.author Bourne, Rupert R A
dc.contributor.author Goh, David
dc.contributor.author Broadway, David
dc.contributor.author Husain, Rahat
dc.contributor.author Negi, Anil K
dc.contributor.author Su, Daniel H
dc.contributor.author Ho, Ching-Lin
dc.contributor.author Blanco, Augusto Azuara
dc.contributor.author Leung, Christopher K C
dc.contributor.author Wong, Tina T
dc.contributor.author Yakub, Azhany
dc.contributor.author Liu, Yutao
dc.contributor.author Nongpiur, Monisha E
dc.contributor.author Han, Jong Chul
dc.contributor.author Hon, Do Nhu
dc.contributor.author Shantha, Balekudaru
dc.contributor.author Zhao, Bowen
dc.contributor.author Sang, Jinghong
dc.contributor.author Zhang, NiHong
dc.contributor.author Consortium, ICAARE-Glaucoma
dc.contributor.author Neighborhood Consortium
dc.contributor.author Hewitt, Alex W
dc.contributor.author Mackey, David A
dc.contributor.author Craig, Jamie E
dc.contributor.author et. al.
dc.date.accessioned 2016-05-27T00:55:00Z
dc.date.available 2016-05-27T00:55:00Z
dc.date.issued 2015
dc.description This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. en
dc.description.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. en
dc.identifier.citation 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 AS, Tajudin LS, 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 CK, Wong TT, Yakub A, Liu Y, Nongpiur ME, Han JC, Hon do N, 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 PO, Chua E, Ng XY, Yong VH, 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; ICAARE-Glaucoma Consortium; NEIGHBORHOOD Consortium, 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. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015 Jul 1;24(13):3880-92. doi: 10.1093/hmg/ddv128. Epub 2015 Apr 10. en
dc.identifier.doi https://doi.org/10.1093/hmg/ddv128 en
dc.identifier.issn 0964-6906
dc.identifier.uri http://hdl.handle.net/2328/36131
dc.language.iso en
dc.publisher Oxford University Press en
dc.relation http://purl.org/au-research/grants/NHMRC/1031362 en
dc.relation http://purl.org/au-research/grants/NHMRC/1037838 en
dc.relation http://purl.org/au-research/grants/NHMRC/1048037 en
dc.relation http://purl.org/au-research/grants/NHMRC/1009844 en
dc.relation http://purl.org/au-research/grants/NHMRC/1031920 en
dc.relation.grantnumber NHMRC/1031362 en
dc.relation.grantnumber NHMRC/1037838 en
dc.relation.grantnumber NHMRC/1048037 en
dc.relation.grantnumber NHMRC/1009844 en
dc.relation.grantnumber NHMRC/1031920 en
dc.rights Copyright © The Author 2015. Published by Oxford University Press. en
dc.rights.holder The Authors en
dc.rights.license CC-BY-NC
dc.title A common variant near TGFBR3 is associated with primary open angle glaucoma en
dc.type Article en
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