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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

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收录情况： ◇ SCIE ◇ 自然指数

作者：
Henrie¨t Springelkamp[1,2] * ; Rene´ Ho¨hn[3] * ; Aniket Mishra[4] * ; Pirro G. Hysi[5] * ; Chiea-Chuen Khor[6,7] * ; Stephanie J. Loomis[8] * ; Jessica N. Cooke Bailey[9,10] ; Jane Gibson[11] ; Gudmar Thorleifsson[12] ; Sarah F. Janssen[13] ; Xiaoyan Luo[14] ; Wishal D. Ramdas[1] ; Eranga Vithana[6,15,16] ; Monisha E. Nongpiur[6,15] ; Grant W. Montgomery[17] ; Liang Xu[18,19] ; Jenny E. Mountain[20] ; Puya Gharahkhani[4] ; Yi Lu[4] ; Najaf Amin[2] ; Lennart C. Karssen[2] ; Kar-Seng Sim[7] ; Elisabeth M. van Leeuwen[2] ; Adriana I. Iglesias[2] ; Virginie J.M. Verhoeven[1,2] ; Michael A. Hauser[21] ; Seng-Chee Loon[6] ; Dominiek D.G. Despriet[1] ; Abhishek Nag[5] ; Cristina Venturini[5,22] ; Paul G. Sanfilippo[23] ; Arne Schillert[24] ; Jae H. Kang[25] ; John Landers[26] ; Fridbert Jonasson[27,28] ; Angela J. Cree[29] ; Leonieke M.E. van Koolwijk[2] ; Fernando Rivadeneira[2,30,31] ; Emmanuelle Souzeau[26] ; Vesteinn Jonsson[28] ; Geeta Menon[32] ; Robert N. Weinreb[33] ; Paulus T.V.M. de Jong[2,34,35,36] ; Ben A. Oostra[37] ; Andre´ G. Uitterlinden[2,30,31] ; Albert Hofman[2,31] ; Sarah Ennis[38] ; Unnur Thorsteinsdottir[12,27] ; Kathryn P. Burdon[26] ; Timothy D. Spector[5] ; Alireza Mirshahi[3] ; Seang-Mei Saw[6,15,16,39] ; Johannes R. Vingerling[1,2] ; Yik-Ying Teo[39,40] ; Jonathan L. Haines[9,10] ; Roger C.W. Wolfs[1] ; Hans G. Lemij[41] ; E-Shyong Tai[16,39,42] ; Nomdo M. Jansonius[43] ; Jost B. Jonas[18,44] ; Ching-Yu Cheng[6,15,16] ; Tin Aung[6,15] ; Ananth C. Viswanathan[45] ; Caroline C.W. Klaver[1,2] ; Jamie E. Craig[26] ; Stuart Macgregor[4] ; David A. Mackey[23,46] ; Andrew J. Lotery[29] ; Kari Stefansson[12,27] ; Arthur A.B. Bergen[13,35,47] ; Terri L. Young[14] ; Janey L. Wiggs[8] ; Norbert Pfeiffer[3] ; Tien-Yin Wong[6,15,16] ; Louis R. Pasquale[8,25] ; Alex W. Hewitt[23] ; Cornelia M. van Duijn[2] ; Christopher J. Hammond[5] ;
机构： [1]Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2]Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [3]Department of Ophthalmology, University Medical Center Mainz, Mainz 55131, Germany [4]Department of Genetics and Computational Biology, Statistical Genetics, QIMR Berghofer Medical ResearchInstitute, Royal Brisbane Hospital, Brisbane, Queensland 4006, Australia [5]Department of Twin Research and Genetic Epidemiology, King’s College London, London WC2R 2LS, UK [6]Department ofOphthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore [7]Division of Human Genetics, Genome Institute of Singapore, Singapore 138672,Singapore [8]Department of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA [9]Department of Molecular Physiology and Biophysics,Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA [10]Department of Epidemiology and Biostatistics, Case Western Reserve University,Cleveland, Ohio 44106, USA [11]Centre for Biological Sciences, Faculty of Natural and Environmental Sciences, University of Southampton, Southampton SO17 1BJ, UK [12]deCODE/Amgen, Reykjavik 101,Iceland [13]Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam 1105 BA,the Netherlands [14]Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina 27710, USA [15]Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751,Singapore [16]Duke-National University of Singapore, Graduate Medical School, Singapore 169857, Singapore [17]Department of Genetics and Computational Biology, Molecular Epidemiology Laboratory,QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Queensland 4006, Australia [18]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital,Capital Medical University, Beijing 100730, China [19]Beijing Ophthalmology and Visual Science Key Lab, Beijing 100730, China [20]Telethon Institute for Child Health Research, Subiaco, Western Australia6008, Australia [21]Departments of Medicine and Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA [22]UCL Institute of Ophthalmology, London EC1V 9EL, UK [23]Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia [24]Institute of Medical Biometry and Statistics, University ofLu¨beck, Lu¨beck 23562, Germany [25]Department of Medicine, Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston, Massachusetts 02115, USA [26]Department ofOphthalmology, Flinders University, Adelaide, South Australia 5042, Australia [27]Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland [28]Department of Ophthalmology, Landspitali NationalUniversity Hospital, Reykjavik 101, Iceland [29]Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK [30]Department of Internal Medicine, ErasmusMedical Center, Rotterdam 3000 CA, The Netherlands [31]Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague 2593 CE, The Netherlands [32]Department ofOphthalmology, Frimley Park Hospital NHS Foundation Trust, Frimley GU16 7UJ, UK [33]Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California 92093,USA [34]Department of Retinal Signal Processing, Netherlands Institute for Neuroscience, Amsterdam 1105 BA, The Netherlands [35]Department of Ophthalmology, Academic Medical Center, Amsterdam1105 AZ, The Netherlands [36]Department of Ophthalmology, Leiden University Medical Center, Leiden 2333 ZA, The Netherlands [37]Department of Clinical Genetics, Erasmus Medical Center, Rotterdam3000 CA, The Netherlands [38]Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK [39]Saw Swee Hock School of Public Health, NationalUniversity of Singapore and National University Health System, Singapore 117597, Singapore [40]Department of Statistics and Applied Probability, National University of Singapore, Singapore 119077,Singapore [41]Glaucoma Service, The Rotterdam Eye Hospital, Rotterdam 3011 BH, The Netherlands [42]Department of Medicine, National University of Singapore and National University Health System,Singapore 119077, Singapore [43]Department of Ophthalmology, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands [44]Department of Ophthalmology,Medical Faculty Mannheim of the Ruprecht-Karls-University of Heidelberg, Seegartenklinik Heidelberg, Heidelberg 69117, Germany [45]NIHR Biomedical Research Centre, Moorfields Eye Hospital NHSFoundation Trust and UCL Institute of Ophthalmology, London EC1V 2PD, UK [46]Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia6009, Australia [47]Department of Clinical Genetics, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands
出处：
DOI： 10.1038/ncomms5883
ISSN：

摘要：
Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

基金：
British Heart FoundationBritish Heart Foundation [PG/13/66/30442] Funding Source: Medline; Department of HealthEuropean Commission [SRF/01/010] Funding Source: Medline; Medical Research CouncilUK Research & Innovation (UKRI)Medical Research Council UK (MRC)European Commission [G0400126] Funding Source: Medline; NCI NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [CA87969, CA55075, CA49449] Funding Source: Medline; NCRR NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR) [RR015574] Funding Source: Medline; NEI NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Eye Institute (NEI) [EY144428, EY18660, EY015473, EY015872, EY010886, EY009847, T32 EY021453, EY011671, EY13315, EY015682, EY013178, 3R01EY015872-05S1, T32 EY21453-2, EY008208, EY144448, EY006827, T32 EY007157, R01 EY015473, R01 EY014685, P30 EY014104, R01 EY022306, EY011008, R01 EY022305, R01EY022305, EY012118, P30EY014104, EY015543, 3R01EY019126-02S1, R01 EY023512, EY09580, EY009149] Funding Source: Medline; NHGRI NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI) [HG005259-01, U01 HG004446, HHSN268200782096C, U01-HG004424, HG004728, HG004608, U01 HG004728] Funding Source: Medline; NHLBI NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI) [HL73042, HL073389] Funding Source: Medline; Wellcome TrustWellcome TrustEuropean Commission [085475/Z/08/Z, 076113, 085475/B/08/Z] Funding Source: Medline; NATIONAL CANCER INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [P01CA087969, R01CA049449, U01CA049449] Funding Source: NIH RePORTER; NATIONAL CENTER FOR RESEARCH RESOURCESUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR) [P20RR015574] Funding Source: NIH RePORTER; NATIONAL EYE INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Eye Institute (NEI) [R01EY022305, R01EY022306, R01EY014685, R01EY015872, U10EY006827, T32EY021453, R01EY019126, U10EY009149, R01EY011405, R29EY009847, R01EY010886, P30EY014104, R01EY011671, R01EY009580, R01EY012118, R01EY011008, R01EY009847, R01EY015473, R01EY018660, R56EY011671, R01EY008208, U10EY012118, R01EY015543, R01EY013178, T32EY007157, R01EY023512, R03EY015682, R01EY013315] Funding Source: NIH RePORTER; NATIONAL HEART, LUNG, AND BLOOD INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI) [P01HL073042, R01HL073389] Funding Source: NIH RePORTER; NATIONAL HUMAN GENOME RESEARCH INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI) [U01HG004608, U01HG004728, U01HG004446, U01HG004424] Funding Source: NIH RePORTER; National Institute for Health ResearchNational Institute for Health Research (NIHR) [SRF/01/010] Funding Source: researchfish; Fight for Sight [1329/30, 1895/96] Funding Source: researchfish; MRCUK Research & Innovation (UKRI)Medical Research Council UK (MRC) [G0400126] Funding Source: UKRI
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外文
被引次数：
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PubmedID：
中科院(CAS)分区：
出版当年[2013]版：
大类 | 2 区 综合性期刊
小类 | 2 区 综合性期刊
最新[2025]版：
大类 | 1 区 综合性期刊
小类 | 1 区 综合性期刊
JCR分区：
出版当年[2012]版：
Q1 MULTIDISCIPLINARY SCIENCES
最新[2023]版：
Q1 MULTIDISCIPLINARY SCIENCES

影响因子： 最新[2023版] 最新五年平均 出版当年[2012版] 出版当年五年平均 出版前一年[2011版] 出版后一年[2013版]

第一作者：
第一作者机构： [1]Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2]Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Henrie¨t Springelkamp,Rene´ Ho¨hn,Aniket Mishra,et al.Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process[J].NATURE COMMUNICATIONS.2014,5:doi:10.1038/ncomms5883.
APA：
Henrie¨t Springelkamp,Rene´ Ho¨hn,Aniket Mishra,Pirro G. Hysi,Chiea-Chuen Khor...&Christopher J. Hammond.(2014).Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.NATURE COMMUNICATIONS,5,
MLA：
Henrie¨t Springelkamp,et al."Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process".NATURE COMMUNICATIONS 5.(2014)

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