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

dc.contributor.authorLi, Zheng
dc.contributor.authorAllingham, R Rand
dc.contributor.authorNakano, Masakazu
dc.contributor.authorJia, Liyun
dc.contributor.authorChen, Yuhong
dc.contributor.authorIkeda, Yoko
dc.contributor.authorMani, Baskaran
dc.contributor.authorChen, Li-Jia
dc.contributor.authorKee, Changwon
dc.contributor.authorGarway-Heath, David F
dc.contributor.authorSarangapani, Sripriya
dc.contributor.authorFuse, Nobuo
dc.contributor.authorAbu-Amero, Khaled K
dc.contributor.authorHuang, Chukai
dc.contributor.authorNamburi, Prasanthi
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorPerera, Shamira A
dc.contributor.authorGharahkhani, Puya
dc.contributor.authorLin, Ying
dc.contributor.authorUeno, Morio
dc.contributor.authorOzaki, Mineo
dc.contributor.authorMizoguchi, Takanori
dc.contributor.authorKrishnadas, Subbiah Ramasamy
dc.contributor.authorOsman, Essam A
dc.contributor.authorLee, Mei Chin
dc.contributor.authorChan, Anita S Y
dc.contributor.authorTajudin, Liza-Sharmini A
dc.contributor.authorDo, Tan
dc.contributor.authorGoncalves, Aurelien
dc.contributor.authorReynier, Pascal
dc.contributor.authorZhang, Hong
dc.contributor.authorBourne, Rupert R A
dc.contributor.authorGoh, David
dc.contributor.authorBroadway, David
dc.contributor.authorHusain, Rahat
dc.contributor.authorNegi, Anil K
dc.contributor.authorSu, Daniel H
dc.contributor.authorHo, Ching-Lin
dc.contributor.authorBlanco, Augusto Azuara
dc.contributor.authorLeung, Christopher K C
dc.contributor.authorWong, Tina T
dc.contributor.authorYakub, Azhany
dc.contributor.authorLiu, Yutao
dc.contributor.authorNongpiur, Monisha E
dc.contributor.authorHan, Jong Chul
dc.contributor.authorHon, Do Nhu
dc.contributor.authorShantha, Balekudaru
dc.contributor.authorZhao, Bowen
dc.contributor.authorSang, Jinghong
dc.contributor.authorZhang, NiHong
dc.contributor.authorConsortium, ICAARE-Glaucoma
dc.contributor.authorNeighborhood Consortium
dc.contributor.authorHewitt, Alex W
dc.contributor.authorMackey, David A
dc.contributor.authorCraig, Jamie E
dc.contributor.authoret. al.
dc.descriptionThis 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.abstractPrimary 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.citationLi 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.publisherOxford University Pressen
dc.rightsCopyright © The Author 2015. Published by Oxford University Press.en
dc.rights.holderThe Authorsen
dc.titleA common variant near TGFBR3 is associated with primary open angle glaucomaen
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