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

TitleA common variant near TGFBR3 is associated with primary open angle glaucoma
Authors
Li, ZhengAllingham, R. RandNakano, MasakazuJia, LiyunChen, YuhongIkeda, YokoMani, BaskaranChen, Li JiaKee, ChangwonGarway-Heath, David F.Sripriya, SarangapaniFuse, NobuoAbu-Amero, Khaled K.Huang, ChukaiNamburi, PrasanthiBurdon, KathrynPerera, Shamira A.Gharahkhani, PuyaLin, YingUeno, MorioOzaki, MineoMizoguchi, TakanoriKrishnadas, Subbiah RamasamyOsman, Essam A.Lee, Mei ChinChan, Anita S.Y.Tajudin, Liza Sharmini A.Do, TanGoncalves, AurelienReynier, PascalZhang, HongBourne, RupertGoh, DavidBroadway, DavidHusain, RahatNegi, Anil K.Su, Daniel H.Ho, Ching LinBlanco, Augusto AzuaraLeung, Christopher K.S.Wong, Tina T.Yakub, AzhanyLiu, YutaoNongpiur, Monisha E.Han, Jong ChulHon, Do NhuShantha, BalekudaruZhao, BowenSang, JinghongZhang, Ni HongSato, RyuichiYoshii, KengoPanda-Jonas, SonghomitaAshley Koch, Allison E.Herndon, Leon W.Moroi, Sayoko E.Challa, PratapFoo, Jia NeeBei, Jin XinZeng, Yi XinSimmons, Cameron P.Bich Chau, Tran NguyenSharmila, Philomenadin FerdinamarieChew, MerwynLim, BlancheTam, Pansy O.S.Chua, ElaineNg, Xiao YuYong, Victor H.K.Chong, Yaan FunMeah, Wee YangVijayan, SaravananSeongsoo, SohnXu, WangTeo, Yik YingCooke Bailey, Jessica N.Kang, Jae H.Haines, Jonathan L.Cheng, Ching YuSaw, Seang MeiTai, E. ShyongRichards, Julia E.Ritch, RobertGaasterland, Douglas E.Pasquale, Louis R.Liu, JianjunJonas, Jost B.Milea, DanGeorge, RonnieAl-Obeidan, Saleh A.Mori, KazuhikoMacgregor, StuartHewitt, Alex W.Girkin, Christopher A.Zhang, MingzhiSundaresan, PeriasamyVijaya, LingamMackey, David A.Wong, Tien YinCraig, Jamie E.
Issue Date2015
Citation
Human Molecular Genetics, 2015, v. 24, n. 13, p. 3880-3892 How to Cite?
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 ), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, OR = 1.13, P = 1.60 × 10 ). 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. -33 -8 G-allele meta
Persistent Identifierhttp://hdl.handle.net/10722/298126
ISSN
2023 Impact Factor: 3.1
2023 SCImago Journal Rankings: 1.602
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
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.authorSripriya, Sarangapani-
dc.contributor.authorFuse, Nobuo-
dc.contributor.authorAbu-Amero, Khaled K.-
dc.contributor.authorHuang, Chukai-
dc.contributor.authorNamburi, Prasanthi-
dc.contributor.authorBurdon, Kathryn-
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-
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.S.-
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, Ni Hong-
dc.contributor.authorSato, Ryuichi-
dc.contributor.authorYoshii, Kengo-
dc.contributor.authorPanda-Jonas, Songhomita-
dc.contributor.authorAshley Koch, Allison E.-
dc.contributor.authorHerndon, Leon W.-
dc.contributor.authorMoroi, Sayoko E.-
dc.contributor.authorChalla, Pratap-
dc.contributor.authorFoo, Jia Nee-
dc.contributor.authorBei, Jin Xin-
dc.contributor.authorZeng, Yi Xin-
dc.contributor.authorSimmons, Cameron P.-
dc.contributor.authorBich Chau, Tran Nguyen-
dc.contributor.authorSharmila, Philomenadin Ferdinamarie-
dc.contributor.authorChew, Merwyn-
dc.contributor.authorLim, Blanche-
dc.contributor.authorTam, Pansy O.S.-
dc.contributor.authorChua, Elaine-
dc.contributor.authorNg, Xiao Yu-
dc.contributor.authorYong, Victor H.K.-
dc.contributor.authorChong, Yaan Fun-
dc.contributor.authorMeah, Wee Yang-
dc.contributor.authorVijayan, Saravanan-
dc.contributor.authorSeongsoo, Sohn-
dc.contributor.authorXu, Wang-
dc.contributor.authorTeo, Yik Ying-
dc.contributor.authorCooke Bailey, Jessica N.-
dc.contributor.authorKang, Jae H.-
dc.contributor.authorHaines, Jonathan L.-
dc.contributor.authorCheng, Ching Yu-
dc.contributor.authorSaw, Seang Mei-
dc.contributor.authorTai, E. Shyong-
dc.contributor.authorRichards, Julia E.-
dc.contributor.authorRitch, Robert-
dc.contributor.authorGaasterland, Douglas E.-
dc.contributor.authorPasquale, Louis R.-
dc.contributor.authorLiu, Jianjun-
dc.contributor.authorJonas, Jost B.-
dc.contributor.authorMilea, Dan-
dc.contributor.authorGeorge, Ronnie-
dc.contributor.authorAl-Obeidan, Saleh A.-
dc.contributor.authorMori, Kazuhiko-
dc.contributor.authorMacgregor, Stuart-
dc.contributor.authorHewitt, Alex W.-
dc.contributor.authorGirkin, Christopher A.-
dc.contributor.authorZhang, Mingzhi-
dc.contributor.authorSundaresan, Periasamy-
dc.contributor.authorVijaya, Lingam-
dc.contributor.authorMackey, David A.-
dc.contributor.authorWong, Tien Yin-
dc.contributor.authorCraig, Jamie E.-
dc.date.accessioned2021-04-08T03:07:44Z-
dc.date.available2021-04-08T03:07:44Z-
dc.date.issued2015-
dc.identifier.citationHuman Molecular Genetics, 2015, v. 24, n. 13, p. 3880-3892-
dc.identifier.issn0964-6906-
dc.identifier.urihttp://hdl.handle.net/10722/298126-
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 ), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, OR = 1.13, P = 1.60 × 10 ). 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. -33 -8 G-allele meta-
dc.languageeng-
dc.relation.ispartofHuman Molecular Genetics-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleA common variant near TGFBR3 is associated with primary open angle glaucoma-
dc.typeArticle-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1093/hmg/ddv128-
dc.identifier.pmid25861811-
dc.identifier.pmcidPMC4459396-
dc.identifier.scopuseid_2-s2.0-84936752130-
dc.identifier.volume24-
dc.identifier.issue13-
dc.identifier.spage3880-
dc.identifier.epage3892-
dc.identifier.eissn1460-2083-
dc.identifier.isiWOS:000357523900023-
dc.identifier.issnl0964-6906-

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