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

Li Zheng,Allingham R Rand,Nakano Masakazu,Jia Liyun,Chen Yuhong,Ikeda Yoko,Mani Baskaran,Chen Li-Jia,Kee Changwon,Garway-Heath David F,Sripriya Sarangapani,Fuse Nobuo,Abu-Amero Khaled K,Huang Chukai,Namburi Prasanthi,Burdon Kathryn,Perera Shamira A,Gharahkhani Puya,Lin Ying,Ueno Morio,Ozaki Mineo,Mizoguchi Takanori,Krishnadas Subbiah Ramasamy,Osman Essam A,Lee Mei Chin,Chan Anita S Y,Tajudin Liza-Sharmini A,Do Tan,Goncalves Aurelien,Reynier Pascal,Zhang Hong,Bourne Rupert,Goh David,Broadway David,Husain Rahat,Negi Anil K,Su Daniel H,Ho Ching-Lin,Blanco Augusto Azuara,Leung Christopher K S,Wong Tina T,Yakub Azhany,Liu Yutao,Nongpiur Monisha E,Han Jong Chul,Hon Do Nhu,Shantha Balekudaru,Zhao Bowen,Sang Jinghong,Zhang NiHong,Sato Ryuichi,Yoshii Kengo,Panda-Jonas Songhomita,Ashley Koch Allison E,Herndon Leon W,Moroi Sayoko E,Challa Pratap,Foo Jia Nee,Bei Jin-Xin,Zeng Yi-Xin,Simmons Cameron P,Bich Chau Tran Nguyen,Sharmila Philomenadin Ferdinamarie,Chew Merwyn,Lim Blanche,Tam Pansy O S,Chua Elaine,Ng Xiao Yu,Yong Victor H K,Chong Yaan Fun,Meah Wee Yang,Vijayan Saravanan,Seongsoo Sohn,Xu Wang,Teo Yik Ying,Cooke Bailey Jessica N,Kang Jae H,Haines Jonathan L,Cheng Ching Yu,Saw Seang-Mei,Tai E-Shyong, Null Null,Richards Julia E,Ritch Robert,Gaasterland Douglas E,Pasquale Louis R,Liu Jianjun,Jonas Jost B,Milea Dan,George Ronnie,Al-Obeidan Saleh A,Mori Kazuhiko,Macgregor Stuart,Hewitt Alex W,Girkin Christopher A,Zhang Mingzhi,Sundaresan Periasamy,Vijaya Lingam,Mackey David A,Wong Tien Yin,Craig Jamie E,Sun Xinghuai,Kinoshita Shigeru,Wiggs Janey L,Khor Chiea-Chuen,Yang Zhenglin,Pang Chi Pui,Wang Ningli,Hauser Michael A,Tashiro Kei,Aung Tin,Vithana Eranga N

HUMAN MOLECULAR GENETICS（2015）

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摘要

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 x 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, P-meta = 1.60 x 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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ophthalmology,health

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