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Zheng Li[1,3] * ; R. Rand Allingham[4] * ; Masakazu Nakano[5] * ; Liyun Jia[8] *

; Yuhong Chen[9] * ; Yoko Ikeda[6] ; Baskaran Mani[1,11,13] ; Li-Jia Chen[14] ; Changwon Kee[15] ; David F. Garway-Heath[16] ; Sarangapani Sripriya[17] ; Nobuo Fuse[18] ; Khaled K.Abu-Amero[19,20] ; Chukai Huang[21] ; Prasanthi Namburi[22] ; Kathryn Burdon[23,24] ; Shamira A. Perera[1,13,2] ; Puya Gharahkhani[25] ; Ying Lin[26,27] ; Morio Ueno[6] ; Mineo Ozaki[28] ; Takanori Mizoguchi[29] ; Subbiah Ramasamy Krishnadas[30] ; Essam A.Osman[19] ; Mei Chin Lee[1] ; Anita S.Y. Chan[1,2] ; Liza-Sharmini A. Tajudin[31] ; Tan Do[32] ; Aurelien Goncalves[33] ; Pascal Reynier[34] ; Hong Zhang[35] ; Rupert Bourne[36] ; David Goh[2] ; David Broadway[37] ; Rahat Husain[2] ; Anil K. Negi[38] ; Daniel H Su[2] ; Ching-Lin Ho[2] ; Augusto Azuara Blanco[39] ; Christopher K.S. Leung[14] ; Tina T. Wong[1,13,2] ; Azhany Yakub[31] ; Yutao Liu[40,41] ; Monisha E. Nongpiur[1,11,13] ; Jong Chul Han[15] ; Do Nhu Hon[32] ; Balekudaru Shantha[42] ; Bowen Zhao[8]

; Jinghong Sang[8]

; NiHong Zhang[8] ; Ryuichi Sato[5] ; Kengo Yoshii[7] ; Songhomita Panda-Jonas[43] ; Allison E. Ashley Koch[40] ; LeonW. Herndon[4] ; Sayoko E. Moroi[44] ; Pratap Challa[4] ; Jia Nee Foo[3] ; Jin-Xin Bei[46,47] ; Yi-Xin Zeng[46,47] ; Cameron P.Simmons[48,49] ; Tran Nguyen Bich Chau[48] ; Philomenadin Ferdinamarie Sharmila[17] ; Merwyn Chew[1] ; Blanche Lim[1] ; Pansy O.S. Tam[14] ; Elaine Chua[1] ; Xiao Yu Ng[1] ; Victor H.K. Yong[1] ; Yaan Fun Chong[1] ; Wee Yang Meah[3] ; Saravanan Vijayan[22] ; Sohn Seongsoo[15] ; Wang Xu[12] ; Yik Ying Teo[3,12] ; Jessica N. Cooke Bailey[50] ; Jae H. Kang[51] ; Jonathan L. Haines[50] ; Ching Yu Cheng[1,11,13,2] ; Seang-Mei Saw[1,12] ; E-Shyong Tai[52] ; Julia E. Richards[44,45] ; Robert Ritch[53] ; Douglas E. Gaasterland[54] ; Louis R. Pasquale[51,55] ; Jianjun Liu[3] ; Jost B. Jonas[43] ; Dan Milea[1,13,2] ; Ronnie George[42] ; Saleh A. Al-Obeidan[19] ; Kazuhiko Mori[6] ; Stuart Macgregor[25] ; Alex W. Hewitt[23,56] ; Christopher A. Girkin[57] ; Mingzhi Zhang[21] ; Periasamy Sundaresan[22] ; Lingam Vijaya[42] ; David A. Mackey[23,58] ; Tien Yin Wong[1,2,11] ; Jamie E. Craig[24] ; Xinghuai Sun[9,10,59] ; Shigeru Kinoshita[6] ; Janey L. Wiggs[57] ; Chiea-Chuen Khor[3,11,*2] ; Zhenglin Yang[26,27,60] ; Chi Pui Pang[14] ; Ningli Wang[8]

; Michael A. Hauser[4,40] ; Kei Tashiro[5] ; Tin Aung[1,2,11,13] ; Eranga N. Vithana[1,11,13,*1] ; ICAARE-Glaucoma Consortium ; NEIGHBORHOOD Consortium ;

机构： [1]Singapore Eye Research Institute, Singapore, Singapore [2]Singapore National Eye Center, Singapore, Singapore, [3]Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore, [4]Department of Ophthalmology, Duke University Eye Center, Durham, NC, USA, [5]Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan [6]Department of Ophthalmology,Kyoto Prefectural University of Medicine, Kyoto, Japan [7]Department of Medical Statistics, Kyoto Prefectural University of Medicine, Kyoto, Japan, [8]Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China, [9]Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School, Fudan University, Shanghai, China [10]State Key Laboratory of Medical Neurobiology, Institutes of Brain Science, Fudan University, Shanghai, China, [11]Department of Ophthalmology, Yong Loo Lin School of Medicine, [12]SawSwee Hock School of Public Health, National University of Singapore, Singapore, Singapore, [13]Duke-NUS Graduate Medical School, Singapore, Singapore, [14]Department of Ophthalmology and Visual Sciences, The Chinese Uuniversity of Hong Kong Eye Hospital, Hong Kong, China, [15]Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Seoul Korea, [16]National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and University College London Institute of Ophthalmology, London, UK, [17]SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India, [18]Department of Integrative Genomics, Tohoku Medical Megabank Organization, Sendai, Japan, [19]Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, [20]Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA, [21]Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou University, Shantou, China, [22]Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India, [23]Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia, [24]Department of Ophthalmology, Flinders University, Adelaide, Australia, [25]Department of Genetics and Computational Biology, Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia, [26]Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, China, [27]School of Medicine, University of Electronic Science and Technology of China, Chengdu, China, [28]Ozaki Eye Hospital, 1–15, Kamezaki, Hyuga, Miyazaki 883-0066, Japan, [29]Mizoguchi Eye Hospital, 6-13 Tawara-machi, Sasebo, Nagasaki 857- 0016, Japan, [30]Glaucoma Services, Aravind Eye Hospital, Madurai, Tamilnadu, India, [31]Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia, [32]Vietnam National Institute of Ophthalmology, Hanoi, Vietnam, [33]Ophthalmology Department, Angers University Hospital, Angers, France [34]Biochemistry Department, Angers University Hospital, Angers, France, [35]Department of Ophthalmology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China, [36]Huntingdon Glaucoma Diagnostic & Research Centre, Hinchingbrooke Hospital, Huntingdon, UK, [37]Norfolk & Norwich University Hospital NHS Trust, Norwich, UK, [38]Heart of UK NHS Foundation Trust, Birmingham, UK, [39]School of Medicine, Dentistry and Biomedical Sciences, Centre for Experimental Medicine, Queen’s University Belfast, Northern Ireland, UK, [40]Department of Medicine, Duke University Medical Center, Durham, NC, USA, [41]Department of Cellular Biology and Anatomy, Georgia Regents University, Augusta, Georgia, [42]Medical Research Foundation, Sankara Nethralaya, Chennai, India, [43]Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Heidelberg, Germany, [44]Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA [45]Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA, [46]State Key Laboratory of Oncology in Southern China, Guangzhou, China, [47]Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China, [48]Clinical Research Unit, Oxford University, 190 BenHamTu,Ho Chi Minh City, Vietnam, [49]Centre for Tropical Medicine, Nuffield Department of Clinical Medicine, Oxford University, Oxford OX3 7LJ, UK, [50]Department of Epidemiology and Biostatistics, CaseWestern Reserve University, Cleveland, OH, USA, [51]Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston, MA, USA, [52]Department of Medicine, National University Health System & National University of Singapore, Singapore, [53]Einhorn Clinical Research Center, Department of Ophthalmology, New York Eye and Ear Infirmary, New York, NY, USA, [54]Eye Doctors of Washington DC, Washington, DC, USA, [55]Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA, [56]Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, VIC, Australia, [57]Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, AL, USA, [58]Centre for Ophthalmology and Visual Science, Lions Eye Institute, University ofWestern Australia, Perth,WA, Australia, [59]Myopia Key Laboratory of the Ministry of Health of China, Shanghai, China [60]Chinese Academy of Sciences, Sichuan Translational Medicine Hospital, Chengdu, China

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The Singapore study of E.N.V., T.A. and C.C.K was supported by a Biomedical Research Council (BMRC) grant in Singapore, Ref: BMRC 10/1/35/19/675. This research was also partly supported by a grant (NMRC/TCR/008-SERI/2013) from the Singapore National Research Foundation under its Translational and Clinical Research Flagship Programme and administered by the Singapore Ministry of Health’s National Medical Research Council. We also acknowledge the following source of funding support for recruitment and genotyping of population-based cohorts SIMES and SCES: National Medical Research Council, Singapore (NMRC/TCR/002-SERI/2008, (R626/47/2008TCR), CSA R613/34/ 2008, NMRC 0796/2003, STaR/0003/2008), the National Research Foundation of Singapore, the Biomedical Research Council, Singapore (BMRC 09/1/35/ 19/616 and 08/1/35/19/550) and Genome Institute of Singapore (GIS/12-AR2105). The Singapore Tissue Network and the Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore provided services. The research of M.A.H. was supported by NIH R01 EY023646, EY13315 (MAH) and by P30-EY005722. The Japanese sample collection from Kyoto was supported by the grants from the Collaborative Development of Innovative Seeds of Japan Science and Technology Agency (JST) to M.K. and K.T., from the Ministry of Health, Labor and Welfare of Japan to M.N., K.M., K.T. and S.K., and from Santen Pharmaceutical Co. Ltd. to S.K. and K.T. The collection of Japanese POAG cases by N.F. was supported by a grant provided by the Ministry of Health, Labor and Welfare of Japan. The glaucoma research of WNL is supported by National Natural Science Foundation of China project (81030016). The research of Y. Chen was supported by National Natural Science Foundation of China (81200723) and glaucoma research of Xinghuai Sun was supported by Special Scientific Research Project of Health Professions (201302015). This research project was supported by the National Natural Science Foundation of China (81170883 (Z.Y.) and 81430008 (Z.Y.)). The glaucoma research of C.P.P. is supported by the Health and Medical Research Fund (HMRF, Ref: 01122236 and 11120801), Hong Kong and the General Research Fund from the Research Grants Council (grant number 468810), Hong Kong. Support for recruitment of Australian & NewZealand Registry of Advanced Glaucoma (ANZRAG) was provided by the Royal Australian and New Zealand College of Ophthalmology (RANZCO) Eye Foundation. Genotyping was funded by the National Health and Medical Research Council of Australia (#535074 and #1023911). This workwas also supported by funding from NHMRC #1031362 awarded to Jamie E. Craig, NHMRC #1037838 awarded to Alex W. Hewitt, NHMRC #1048037 awarded to Stuart L. Graham, NHMRC #1009844 awarded to Robert J. Casson and Ivan Goldberg, NHMRC #1031920 and an Alcon Research Institute grant awarded to David A. Mackey, an Allergan Unrestricted grant awarded to Andrew J. White, the BrightFocus Foundation and a Ramaciotti Establishment Grant. S.M. is supported by Australian Research Council (ARC) and Australian National Health & Medical Research Council (NHMRC) Fellowships. Controls for the ANZRAG discovery cohort were drawn from the Australian Cancer Study, the Study of Digestive Health, and from a study of inflammatory bowel diseases. The Australian Cancer Study was supported by the Queensland Cancer Fund and the National Health and Medical Research Council (NHMRC) of Australia (Program no. 199600, awarded to David C. Whiteman, Adele C. Green, Nicholas K. Hayward, Peter G. Parsons, David M. Purdie and Penelope M.Webb, and program number 552429, awarded to David C. Whiteman). The Study of Digestive Health was supported by grant number 5 RO1 CA 001833 from the National Cancer Institute (awarded to David C. Whiteman). The Barrett’s and Esophageal Adenocarcinoma Genetic Susceptibility Study (BEAGESS) sponsored the genotyping of oesophageal cancer and Barrett’s oesophagus cases, which were used as unscreened controls in the ANZRAG discovery cohort. BEAGESS was funded by grant R01 CA136725 from the National Cancer Institute Collection of Saudi POAG cases and controls was supported by the Glaucoma Research Chair at College of Medicine, King Saud University, Riyadh, Saudi Arabia. NEI Glaucoma Human Genetics Collaboration (NEIGHBOR): genotyping services for the NEIGHBOR study were provided by the CIDR and were supported by the NEI through grant HG005259-01 (J.L.W.). Additionally, CIDR is funded through a federal contract fromthe NIH to The Johns Hopkins University, contract number HHSN268200782096C. Collecting and processing samples for the NEIGHBOR data set was supported by the NEI through American Recovery and Reinvestment Act (ARRA) grants 3R01EY015872-05S1 (J.L.W.) and 3R01EY019126-02S1 (M.A.H.). Genotype imputation and meta-analysis were supported by EY022305 (J.L.W.). Funding for the collection of cases and controls was provided by the following NIH grants: EY015543 (R.R. Allingham); EY006827 (D. Gaasterland); HL73042, HL073389, EY13315, EY023646 (M.A.H.); CA87969, CA49449, UM1 CA167552 (J.H. Kang); EY009149 (P.R. Lichter); HG004608 (C. McCarty); EY008208 (F.A. Medeiros); EY015473 (L.R.P.); EY012118 (M. Pericak-Vance); EY015682 (A. Realini); EY011671, EY09580 (J.E. Richards); EY013178 (J.S. Schuman); RR015574, EY015872, EY010886, EY009847, EY014104 (J.L.W.); EY011008, EY144428, EY144448 and EY18660 (K. Zhang). J.L.W. and L.R.P. are also supported by the Harvard Glaucoma Center for Excellence and Research to Prevent Blindness. J.N.C.B. is supported by NIH T32 EY007157 (CWRU) and T32 EY21453-2 (VUMC). MEEI case-control sample: genotyping for the Massachusetts Eye and Ear Infirmary (MEEI) case-control sample was performed at the Broad Institute of MIT and Harvard with funding support fromthe NIH GEI (Gene Environment Initiative) (U01HG04424 and U01HG004728). The GENEVACoordinating Center (U01HG004446) assisted with genotype cleaning. Imputation was supported by NIH EY022305 (JLW). Collection of cases and controls was supported by NIH EY015872 (JLW) and NIH P30 014104 (JLW). Funding to pay the Open Access publication charges for this article was provided by Singapore Eye Research Institute.

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出版当年[2014]版：

大类 | 2 区

生物

小类 | 2 区生化与分子生物学 2 区遗传学

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大类 | 2 区生物学

小类 | 3 区生化与分子生物学 3 区遗传学

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出版当年[2013]版：

Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Q1 GENETICS & HEREDITY

最新[2023]版：

Q2 GENETICS & HEREDITY Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

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第一作者机构： [1]Singapore Eye Research Institute, Singapore, Singapore [3]Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore,

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通讯机构： [1]Singapore Eye Research Institute, Singapore, Singapore [3]Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore, [11]Department of Ophthalmology, Yong Loo Lin School of Medicine, [13]Duke-NUS Graduate Medical School, Singapore, Singapore, [*1]The Academia, 20 College Road, Discovery Tower level 6, Singapore 169856, Singapore. [*2]60 Biopolis Street, #02-01 Genome Building, Genome Institute of Singapore, Singapore 138672, Singapore.

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

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