Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
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DOI：
10.1038/ng.3079
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发表时间：
2014-10
期刊：
影响因子：
30.8
通讯作者：
Craig, Jamie E.
中科院分区：
文献类型：
--
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.
原发性开角型青光眼（POAG）是全世界不可逆性失明的主要原因。我们在澳大利亚发现队列中进行了一项全基因组关联研究，该队列包括 1,155 例晚期 POAG 病例和 1,992 例对照。在两个澳大利亚复制队列（总共 932 个病例，6,862 个对照）和两个美国复制队列（总共 2,616 个病例，2,634 个对照）中对发现阶段的顶级 SNP 关联进行了调查。所有队列的荟萃分析揭示了与 POAG 发展相关的三个新位点。这些位点位于 ABCA1 (rs2472493 [G] OR=1.31, P= 2.1 × 10−19) 的上游、AFAP1 (rs4619890 [G] OR=1.20, P= 7.0 × 10−10) 内和 GMDS (rs11969985 [G] OR=1.31, P= 7.7 × 10−10）。使用 RT-PCR 和免疫标记，我们还表明这些基因在人视网膜、视神经和小梁网中表达，ABCA1 和 AFAP1 也在视网膜神经节细胞中表达。
Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 advanced POAG cases and 1,992 controls. Association of the top SNPs from the discovery stage was investigated in two Australian replication cohorts (total 932 cases, 6,862 controls) and two US replication cohorts (total 2,616 cases, 2,634 controls). Meta-analysis of all cohorts revealed three novel loci associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493 [G] OR=1.31, P= 2.1 × 10−19), within AFAP1 (rs4619890 [G] OR=1.20, P= 7.0 × 10−10) and within GMDS (rs11969985 [G] OR=1.31, and P= 7.7 × 10−10). Using RT-PCR and immunolabelling, we also showed that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells.
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影响因子：
9.8
作者：
ENCODE Project Consortium
通讯作者：
ENCODE Project Consortium
影响因子：
4.5
作者：
Ramdas WD;van Koolwijk LM;Ikram MK;Jansonius NM;de Jong PT;Bergen AA;Isaacs A;Amin N;Aulchenko YS;Wolfs RC;Hofman A;Rivadeneira F;Oostra BA;Uitterlinden AG;Hysi P;Hammond CJ;Lemij HG;Vingerling JR;Klaver CC;van Duijn CM
通讯作者：
van Duijn CM
影响因子：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
DOI：
10.1007/s004170000252
发表时间：
2001-03-01
影响因子：
2.7
作者：
Picht, G;Welge-Luessen, U;Lütjen-Drecoll, E
通讯作者：
Lütjen-Drecoll, E
影响因子：
3.7
作者：
Qian, Y;Baisden, JM;Flynn, DC
通讯作者：
Flynn, DC