Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error (Articolo in rivista)

Type
Label
  • Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.ajhg.2013.06.016 (literal)
Alternative label
  • Ching-Yu Cheng1, 2, 3, 4, 66, Maria Schache5, 66, M. Kamran Ikram1, 3, 4, 6, 66, Terri L. Young7, 8, 66, Jeremy A. Guggenheim9, 66, Veronique Vitart10, 66, Stuart MacGregor11, 66, Virginie J.M. Verhoeven6, 12, Veluchamy A. Barathi1, 3, 13, Jiemin Liao1, 3, Pirro G. Hysi14, Joan E. Bailey-Wilson15, Beate St. Pourcain16, 17, John P. Kemp16, 17, George McMahon16, 17, Nicholas J. Timpson16, 17, David M. Evans16, 17, Grant W. Montgomery11, Aniket Mishra11, Ya Xing Wang18, Jie Jin Wang5, 19, Elena Rochtchina19, Ozren Polasek20, Alan F. Wright10, Najaf Amin12, Elisabeth M. van Leeuwen12, James F. Wilson21, Craig E. Pennell22, Cornelia M. van Duijn12, Paulus T.V.M. de Jong23, 24, Johannes R. Vingerling6, 12, Xin Zhou2, Peng Chen2, Ruoying Li2, Wan-Ting Tay3, Yingfeng Zheng3, Merwyn Chew3, Consortium for Refractive Error and Myopia, Kathryn P. Burdon25, Jamie E. Craig25, Sudha K. Iyengar26, 27, 28, 29, Robert P. Igo26, Jonathan H. Lass26, 27, The Fuchs' Genetics Multi-Center Study Group, Emily Y. Chew30, Toomas Haller31, Evelin Mihailov31, 32, Andres Metspalu31, Juho Wedenoja33, Claire L. Simpson15, Robert Wojciechowski15, 34, René Höhn35, Alireza Mirshahi35, Tanja Zeller36, Norbert Pfeiffer35, Karl J. Lackner37, Wellcome Trust Case Control Consortium 2, Thomas Bettecken38, 68, Thomas Meitinger38, 39, Konrad Oexle39, Mario Pirastu40, Laura Portas40, Abhishek Nag14, Katie M. Williams14, Ekaterina Yonova-Doing14, Ronald Klein41, Barbara E. Klein41, S. Mohsen Hosseini42, Andrew D. Paterson42, The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Kari-Matti Makela43, Terho Lehtimaki43, Mika Kahonen44, Olli Raitakari45, Nagahisa Yoshimura46, Fumihiko Matsuda47, Li Jia Chen48, Chi Pui Pang49, Shea Ping Yip50, Maurice K.H. Yap9, Akira Meguro51, Nobuhisa Mizuki51, Hidetoshi Inoko52, Paul J. Foster53, Jing Hua Zhao54, Eranga Vithana3, E-Shyong Tai2, 13, 55, Qiao Fan2, Liang Xu18, Harry Campbell21, Brian Fleck56, Igor Rudan21, Tin Aung1, 3, Albert Hofman12, André G. Uitterlinden12, 57, Goran Bencic58, Chiea-Chuen Khor1, 59, Hannah Forward22, Olavi Pärssinen60, 61, Paul Mitchell19, Fernando Rivadeneira12, Alex W. Hewitt5, 62, Cathy Williams17, Ben A. Oostra63, Yik-Ying Teo2, 64, Christopher J. Hammond14, Dwight Stambolian65, 67, David A. Mackey5, 62, 67, Caroline C.W. Klaver6, 12, 67, Tien-Yin Wong1, 2, 3, 67, Seang-Mei Saw1, 2, 3, 4, 67, Go To Corresponding Author, and Paul N. Baird5, 67 (2013)
    Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
    in American journal of human genetics (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Ching-Yu Cheng1, 2, 3, 4, 66, Maria Schache5, 66, M. Kamran Ikram1, 3, 4, 6, 66, Terri L. Young7, 8, 66, Jeremy A. Guggenheim9, 66, Veronique Vitart10, 66, Stuart MacGregor11, 66, Virginie J.M. Verhoeven6, 12, Veluchamy A. Barathi1, 3, 13, Jiemin Liao1, 3, Pirro G. Hysi14, Joan E. Bailey-Wilson15, Beate St. Pourcain16, 17, John P. Kemp16, 17, George McMahon16, 17, Nicholas J. Timpson16, 17, David M. Evans16, 17, Grant W. Montgomery11, Aniket Mishra11, Ya Xing Wang18, Jie Jin Wang5, 19, Elena Rochtchina19, Ozren Polasek20, Alan F. Wright10, Najaf Amin12, Elisabeth M. van Leeuwen12, James F. Wilson21, Craig E. Pennell22, Cornelia M. van Duijn12, Paulus T.V.M. de Jong23, 24, Johannes R. Vingerling6, 12, Xin Zhou2, Peng Chen2, Ruoying Li2, Wan-Ting Tay3, Yingfeng Zheng3, Merwyn Chew3, Consortium for Refractive Error and Myopia, Kathryn P. Burdon25, Jamie E. Craig25, Sudha K. Iyengar26, 27, 28, 29, Robert P. Igo26, Jonathan H. Lass26, 27, The Fuchs' Genetics Multi-Center Study Group, Emily Y. Chew30, Toomas Haller31, Evelin Mihailov31, 32, Andres Metspalu31, Juho Wedenoja33, Claire L. Simpson15, Robert Wojciechowski15, 34, René Höhn35, Alireza Mirshahi35, Tanja Zeller36, Norbert Pfeiffer35, Karl J. Lackner37, Wellcome Trust Case Control Consortium 2, Thomas Bettecken38, 68, Thomas Meitinger38, 39, Konrad Oexle39, Mario Pirastu40, Laura Portas40, Abhishek Nag14, Katie M. Williams14, Ekaterina Yonova-Doing14, Ronald Klein41, Barbara E. Klein41, S. Mohsen Hosseini42, Andrew D. Paterson42, The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Kari-Matti Makela43, Terho Lehtimaki43, Mika Kahonen44, Olli Raitakari45, Nagahisa Yoshimura46, Fumihiko Matsuda47, Li Jia Chen48, Chi Pui Pang49, Shea Ping Yip50, Maurice K.H. Yap9, Akira Meguro51, Nobuhisa Mizuki51, Hidetoshi Inoko52, Paul J. Foster53, Jing Hua Zhao54, Eranga Vithana3, E-Shyong Tai2, 13, 55, Qiao Fan2, Liang Xu18, Harry Campbell21, Brian Fleck56, Igor Rudan21, Tin Aung1, 3, Albert Hofman12, André G. Uitterlinden12, 57, Goran Bencic58, Chiea-Chuen Khor1, 59, Hannah Forward22, Olavi Pärssinen60, 61, Paul Mitchell19, Fernando Rivadeneira12, Alex W. Hewitt5, 62, Cathy Williams17, Ben A. Oostra63, Yik-Ying Teo2, 64, Christopher J. Hammond14, Dwight Stambolian65, 67, David A. Mackey5, 62, 67, Caroline C.W. Klaver6, 12, 67, Tien-Yin Wong1, 2, 3, 67, Seang-Mei Saw1, 2, 3, 4, 67, Go To Corresponding Author, and Paul N. Baird5, 67 (literal)
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  • 1 Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore 2 Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore 3 Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore 4 Centre for Quantitative Medicine, Office of Clinical Sciences, Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore 5 Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, VIC 3002, Australia 6 Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, the Netherlands 7 Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA 8 Division of Neuroscience and Behavioural Disorders, Duke-National University of Singapore, Graduate Medical School, Singapore 169857, Singapore 9 Centre for Myopia Research, School of Optometry, Hong Kong Polytechnic University, Kowloon, Hong Kong 10 Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK 11 Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia 12 Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, the Netherlands 13 Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore 14 Department of Twin Research and Genetic Epidemiology, King's College London School of Medicine, London SE1 7EH, UK 15 Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA 16 MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK 17 School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK 18 Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing 100730, China 19 Department of Ophthalmology, Centre for Vision Research, Westmead Millennium Institute, University of Sydney, Sydney, NSW 2145, Australia 20 Faculty of Medicine, University of Split, Croatia, Split 21000, Croatia 21 Centre for Population Health Sciences, University of Edinburgh, Edinburgh EH8 9AG, UK 22 School of Women's and Infants' Health, The University of Western Australia, Perth, WA 6009, Australia 23 Netherlands Institute of Neuroscience (NIN), An Institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam 1105 BA, the Netherlands 24 Department of Ophthalmology, Academisch Medisch Centrum, Amsterdam 1105 AZ, the Netherlands and Leids Universitair Medisch Centrum, Leiden 2300 RC, the Netherlands 25 Department of Ophthalmology, Flinders University, Adelaide, SA 5001, Australia 26 Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA 27 Department of Ophthalmology and Visual Sciences, Case Western Reserve University and University Hospitals Eye Institute, Cleveland, OH 44106, USA 28 Department of Genetics, Case Western Reserve University, Cleveland, OH 44106, USA 29 Center for Clinical Investigation, Case Western Reserve University, Cleveland, OH 44106, USA 30 National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA 31 Estonian Genome Center, University of Tartu, Tartu 51010, Estonia 32 Institute of Molecular and Cell Biology, University of Tartu, Tartu 51010, Estonia 33 Department of Public Health, Hjelt Institute, University of Helsinki, Helsinki 00014, Finland 34 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA 35 Department of Ophthalmology, University Medical Center Mainz, Mainz 55131, Germany 36 Clinic for General and Interventional Cardiology, University Heart Center Hamburg, Hamburg 20246, Germany 37 Department of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz 55131, Germany 38 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany 39 Institute of Human Genetics, Technical University Munich, Munich 81675, Germany 40 Institute of Population Genetics, National Research Council of Italy, Sassari 07100, Italy 41 Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA 42 Program in Genetics and Genome Biology, The Hospital for Sick Children and Institute for Medical Sciences, University of Toronto, Toronto, ON M5G 1X8, Canada 43 Department of Clinical Chemistry, Filmlab Laboratories, Tampere University Hospital and School of Medicine, University of Tampere, Tampere 33520, Finland 44 Department of Clinical Physiology, Tampere University Hospital and School of Medicine, University of Tampere, Tampere 33521, Finland 45 Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, and Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku 20041, Finland 46 Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan 47 Department of Human Disease Genomics, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan 48 Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong 49 Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Kowloon, Hong Kong 50 Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong 51 Department of Ophthalmology and Visual Sciences, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan 52 Department of Genetic Information, Division of Molecular Life Science, Tokai University School of Medicine, Kanagawa 259-1193, Japan 53 NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London EC1V 2PD, UK 54 MRC Epidemiology Unit, Institute of Metabolic Sciences, University of Cambridge, Cambridge CB2 0QQ, UK 55 Department of Medicine, National University of Singapore and National University Health System, Singapore 119228, Singapore 56 Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK 57 Department of Internal Medicine, Erasmus Medical Center, Rotterdam 3000 CA, the Netherlands 58 Department of Ophthalmology, Sisters of Mercy University Hospital, Zagreb 10000, Croatia 59 Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore 60 Department of Health Sciences and Gerontology Research Center, University of Jyväskylä, Jyväskylä 40014, Finland 61 Department of Ophthalmology, Central Hospital of Central Finland, Jyväskylä 40620, Finland 62 Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, WA 6009, Australia 63 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3000 CA, the Netherlands 64 Department of Statistics and Applied Probability, National University of Singapore, Singapore 117546, Singapore 65 Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA (literal)
Titolo
  • Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error (literal)
Abstract
  • Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways. (literal)
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