A common variant near TGFBR3 is associated with primary open angle glaucoma.
A common variant near TGFBR3 is associated with primary open angle glaucoma.
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TGFBR3 附近的一个常见变异与原发性开角型青光眼有关。
DOI：
10.1093/hmg/ddv128
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发表时间：
2015-07-01
影响因子：
3.5
通讯作者：
Vithana EN
中科院分区：
文献类型：
--
作者：
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 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 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
原发性开角型青光眼(POAG)是一种复杂的疾病，具有显著的遗传因素，是世界范围内导致失明的主要原因。我们对3504例POAG病例和9746名对照进行了Exome阵列(Illumina)分析，复制了18个亚洲、非洲和欧洲血统的9173例POAG病例和26780名对照的最重要发现。除了证实CDKN2B-AS1基因与POAG有关联外(rs2157719[G]，OR=0.71，P=2.81×10−33)，我们还观察到一个SNP与POAG显著关联(CDC7-TGFBR3rs1192415，ORG-等位基因=1.13，Pmeta=1.60×10−8)。这种特殊的SNP先前已被证明与视盘面积和垂直杯盘比密切相关，这被认为是青光眼相关的数量性状。我们的研究现在通过直接将其与POAG病的发病机制相关联来扩展这一点。
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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影响因子：
30.8
作者：
Bonnefond, Amelie;Skrobek, Boris;Froguel, Philippe
通讯作者：
Froguel, Philippe
影响因子：
30.8
作者：
Gharahkhani, Puya;Burdon, Kathryn P.;Fogarty, Rhys;Sharma, Shiwani;Hewitt, Alex W.;Martin, Sarah;Law, Matthew H.;Cremin, Katie;Bailey, Jessica N. Cooke;Loomis, Stephanie J.;Pasquale, Louis R.;Haines, Jonathan L.;Hauser, Michael A.;Viswanathan, Ananth C.;McGuffin, Peter;Topouzis, Fotis;Foster, Paul J.;Graham, Stuart L.;Casson, Robert J.;Chehade, Mark;White, Andrew J.;Zhou, Tiger;Souzeau, Emmanuelle;Landers, John;Fitzgerald, Jude T.;Klebe, Sonja;Ruddle, Jonathan B.;Goldberg, Ivan;Healey, Paul R.;Mills, Richard A.;Wang, Jie Jin;Montgomery, Grant W.;Martin, Nicholas G.;Radford-Smith, Graham;Whiteman, David C.;Brown, Matthew A.;Wiggs, Janey L.;Mackey, David A.;Mitchell, Paul;MacGregor, Stuart;Craig, Jamie E.
通讯作者：
Craig, Jamie E.
影响因子：
4.1
作者：
Garway-Heath, DF;Ruben, ST;Hitchings, RA
通讯作者：
Hitchings, RA
影响因子：
30.8
作者：
Hysi, Pirro G.;Cheng, Ching-Yu;Springelkamp, Henriet;Macgregor, Stuart;Bailey, Jessica N. Cooke;Wojciechowski, Robert;Vitart, Veronique;Nag, Abhishek;Hewitt, Alex W.;Hohn, Rene;Venturini, Cristina;Mirshahi, Alireza;Ramdas, Wishal D.;Thorleifsson, Gudmar;Vithana, Eranga;Khor, Chiea-Chuen;Stefansson, Arni B.;Liao, Jiemin;Haines, Jonathan L.;Amin, Najaf;Wang, Ya Xing;Wild, Philipp S.;Ozel, Ayse B.;Li, Jun Z.;Fleck, Brian W.;Zeller, Tanja;Staffieri, Sandra E.;Teo, Yik-Ying;Cuellar-Partida, Gabriel;Luo, Xiaoyan;Allingham, R. Rand;Richards, Julia E.;Senft, Andrea;Karssen, Lennart C.;Zheng, Yingfeng;Bellenguez, Celine;Xu, Liang;Iglesias, Adriana I.;Wilson, James F.;Kang, Jae H.;van Leeuwen, Elisabeth M.;Jonsson, Vesteinn;Thorsteinsdottir, Unnur;Despriet, Dominiek D. G.;Ennis, Sarah;Moroi, Sayoko E.;Martin, Nicholas G.;Jansonius, Nomdo M.;Yazar, Seyhan;Tai, E-Shyong;Amouyel, Philippe;Kirwan, James;van Koolwijk, Leonieke M. E.;Hauser, Michael A.;Jonasson, Fridbert;Leo, Paul;Loomis, Stephanie J.;Fogarty, Rhys;Rivadeneira, Fernando;Kearns, Lisa;Lackner, Karl J.;de Jong, Paulus T. V. M.;Simpson, Claire L.;Pennell, Craig E.;Oostra, Ben A.;Uitterlinden, Andre G.;Saw, Seang-Mei;Lotery, Andrew J.;Bailey-Wilson, Joan E.;Hofman, Albert;Vingerling, Johannes R.;Maubaret, Cecilia;Pfeiffer, Norbert;Wolfs, Roger C. W.;Lemij, Hans G.;Young, Terri L.;Pasquale, Louis R.;Delcourt, Cecile;Spector, Timothy D.;Klaver, Caroline C. W.;Small, Kerrin S.;Burdon, Kathryn P.;Stefansson, Kari;Wong, Tien-Yin;Viswanathan, Ananth;Mackey, David A.;Craig, Jamie E.;Wiggs, Janey L.;van Duijn, Cornelia M.;Hammond, Christopher J.;Aung, Tin
通讯作者：
Aung, Tin
影响因子：
3.7
作者：
Cao D;Jiao X;Liu X;Hennis A;Leske MC;Nemesure B;Hejtmancik JF
通讯作者：
Hejtmancik JF