Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (Articolo in rivista)

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  • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1038/ng.2554 (literal)
Alternative label
  • Virginie J M Verhoeven1,2,68, Pirro G Hysi3,68, Robert Wojciechowski4,5,68, Qiao Fan6,68, Jeremy A Guggenheim7,68, René Höhn8,68, Stuart MacGregor9, Alex W Hewitt10,11, Abhishek Nag3, Ching-Yu Cheng6,12,13, Ekaterina Yonova-Doing3, Xin Zhou6, M Kamran Ikram6,12,13, Gabriëlle H S Buitendijk1,2, George McMahon14, John P Kemp14, Beate St Pourcain15, Claire L Simpson4, Kari-Matti Mäkelä16, Terho Lehtimäki16, Mika Kähönen17, Andrew D Paterson18, S Mohsen Hosseini18, Hoi Suen Wong18, Liang Xu19, Jost B Jonas20, Olavi Pärssinen21,22,23, Juho Wedenoja24, Shea Ping Yip25, Daniel W H Ho7,26, Chi Pui Pang26, Li Jia Chen27, Kathryn P Burdon28, Jamie E Craig28, Barbara E K Klein29, Ronald Klein29, Toomas Haller30, Andres Metspalu30, Chiea-Chuen Khor6,12,31,32, E-Shyong Tai6,33,34, Tin Aung12,13, Eranga Vithana13, Wan-Ting Tay13, Veluchamy A Barathi12,13,34, Consortium for Refractive Error and Myopia (CREAM)35, Peng Chen6, Ruoying Li6, Jiemin Liao12, Yingfeng Zheng13, Rick T Ong6, Angela Döring36,37, The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCTDCCTDCCTDCCT/EDEDIC) Research Group35, David M Evans14, Nicholas J Timpson14, Annemieke J M H Verkerk38, Thomas Meitinger39, Olli Raitakari40,41, Felicia Hawthorne42, Tim D Spector3, Lennart C Karssen2, Mario Pirastu43, Federico Murgia43, Wei Ang44, Wellcome Trust Case Control Consortium 2 (WTCCCWTCCCWTCCCWTCCCWTCCC2)35, Aniket Mishra9, Grant W Montgomery45, Craig E Pennell44, Phillippa M Cumberland46,47, Ioana Cotlarciuc48, Paul Mitchell49, Jie Jin Wang10,49, Maria Schache10, Sarayut Janmahasathian50, Robert P Igo Jr50, Jonathan H Lass50,51, Emily Chew52, Sudha K Iyengar50,51,53, The Fuchs' Genetics Multi-Center Study Group35, Theo G M F Gorgels54, Igor Rudan55, Caroline Hayward56, Alan F Wright56, Ozren Polasek57, Zoran Vatavuk58, James F Wilson55, Brian Fleck59, Tanja Zeller60, Alireza Mirshahi8, Christian Müller60, André G Uitterlinden2,37,61, Fernando Rivadeneira2,38,61, Johannes R Vingerling1,2, Albert Hofman2,61, Ben A Oostra62, Najaf Amin2, Arthur A B Bergen54,63,64, Yik-Ying Teo6,65, Jugnoo S Rahi45,47,66, Veronique Vitart56, Cathy Williams15, Paul N Baird10, Tien-Yin Wong6,12,13, Konrad Oexle39, Norbert Pfeiffer8, David A Mackey10,11, Terri L Young42, Cornelia M van Duijn2, Seang-Mei Saw6,12,13,34,69, Joan E Bailey-Wilson4,69, Dwight Stambolian67,69, Caroline C Klaver1,2,69 & Christopher J Hammond3,69 (2013)
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
    in Nature genetics (Print); Nature Publishing Group, New York (Stati Uniti d'America)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Virginie J M Verhoeven1,2,68, Pirro G Hysi3,68, Robert Wojciechowski4,5,68, Qiao Fan6,68, Jeremy A Guggenheim7,68, René Höhn8,68, Stuart MacGregor9, Alex W Hewitt10,11, Abhishek Nag3, Ching-Yu Cheng6,12,13, Ekaterina Yonova-Doing3, Xin Zhou6, M Kamran Ikram6,12,13, Gabriëlle H S Buitendijk1,2, George McMahon14, John P Kemp14, Beate St Pourcain15, Claire L Simpson4, Kari-Matti Mäkelä16, Terho Lehtimäki16, Mika Kähönen17, Andrew D Paterson18, S Mohsen Hosseini18, Hoi Suen Wong18, Liang Xu19, Jost B Jonas20, Olavi Pärssinen21,22,23, Juho Wedenoja24, Shea Ping Yip25, Daniel W H Ho7,26, Chi Pui Pang26, Li Jia Chen27, Kathryn P Burdon28, Jamie E Craig28, Barbara E K Klein29, Ronald Klein29, Toomas Haller30, Andres Metspalu30, Chiea-Chuen Khor6,12,31,32, E-Shyong Tai6,33,34, Tin Aung12,13, Eranga Vithana13, Wan-Ting Tay13, Veluchamy A Barathi12,13,34, Consortium for Refractive Error and Myopia (CREAM)35, Peng Chen6, Ruoying Li6, Jiemin Liao12, Yingfeng Zheng13, Rick T Ong6, Angela Döring36,37, The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCTDCCTDCCTDCCT/EDEDIC) Research Group35, David M Evans14, Nicholas J Timpson14, Annemieke J M H Verkerk38, Thomas Meitinger39, Olli Raitakari40,41, Felicia Hawthorne42, Tim D Spector3, Lennart C Karssen2, Mario Pirastu43, Federico Murgia43, Wei Ang44, Wellcome Trust Case Control Consortium 2 (WTCCCWTCCCWTCCCWTCCCWTCCC2)35, Aniket Mishra9, Grant W Montgomery45, Craig E Pennell44, Phillippa M Cumberland46,47, Ioana Cotlarciuc48, Paul Mitchell49, Jie Jin Wang10,49, Maria Schache10, Sarayut Janmahasathian50, Robert P Igo Jr50, Jonathan H Lass50,51, Emily Chew52, Sudha K Iyengar50,51,53, The Fuchs' Genetics Multi-Center Study Group35, Theo G M F Gorgels54, Igor Rudan55, Caroline Hayward56, Alan F Wright56, Ozren Polasek57, Zoran Vatavuk58, James F Wilson55, Brian Fleck59, Tanja Zeller60, Alireza Mirshahi8, Christian Müller60, André G Uitterlinden2,37,61, Fernando Rivadeneira2,38,61, Johannes R Vingerling1,2, Albert Hofman2,61, Ben A Oostra62, Najaf Amin2, Arthur A B Bergen54,63,64, Yik-Ying Teo6,65, Jugnoo S Rahi45,47,66, Veronique Vitart56, Cathy Williams15, Paul N Baird10, Tien-Yin Wong6,12,13, Konrad Oexle39, Norbert Pfeiffer8, David A Mackey10,11, Terri L Young42, Cornelia M van Duijn2, Seang-Mei Saw6,12,13,34,69, Joan E Bailey-Wilson4,69, Dwight Stambolian67,69, Caroline C Klaver1,2,69 & Christopher J Hammond3,69 (literal)
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  • 1Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands. 2Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands. 3Department of Twin Research and Genetic Epidemiology, King's College London School of Medicine, London, UK. 4Inherited Disease Research Branch, National Human Genome Research Institute, US National Institutes of Health, Baltimore, Maryland, USA. 5Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA. 6Saw Swee Hock School of Public Health, National University Health Systems, National University of Singapore, Singapore. 7Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong. 8Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany. 9Department of Statistical Genetics, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia. 10Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia. 11Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia. 12Department of Ophthalmology, National University Health Systems, National University of Singapore, Singapore. 13Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. 14Medical Research Council Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK. 15School of Social and Community Medicine, University of Bristol, Bristol, UK. 16Department of Clinical Chemistry, Fimlab Laboratories and School of Medicine, University of Tampere, Tampere, Finland. 17Department of Clinical Physiology, Tampere University Hospital and School of Medicine, University of Tampere, Tampere, Finland. 18Program in Genetics and Genome Biology, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada. 19Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China. 20Department of Ophthalmology, Medical Faculty Mannheim, Ruprecht-Karls-University Heidelberg, Mannheim, Germany. 21Department of Health Sciences, University of Jyväskylä, Jyväskylä, Finland. 22Gerontology Research Center, University of Jyväskylä, Jyväskylä, Finland. 23Department of Ophthalmology, Central Hospital of Central Finland, Jyväskylä, Finland. 24Department of Public Health, Hjelt Institute, University of Helsinki, Helsinki, Finland. 25Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong. 26Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Kowloon, Hong Kong. 27Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong. 28Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia. 29Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA. 30Estonian Genome Center, University of Tartu, Tartu, Estonia. 31Department of Pediatrics, National University of Singapore, Singapore. 32Division of Human Genetics, Genome Institute of Singapore, Singapore. 33Department of Medicine, National University of Singapore, Singapore. 34Duke-National University of Singapore Graduate Medical School, Singapore. 35A full list of members appears in the Supplementary Note. 36Institute of Epidemiology I, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany. 37Institute of Epidemiology II, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany. 38Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands. 39Institute of Human Genetics, Technical University Munich, Munich, Germany. 40Research Centre of Applied and Preventive Medicine, University of Turku, Turku, Finland. 41Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, Finland. 42Department of Pediatric Ophthalmology, Duke Eye Center For Human Genetics, Durham, North Carolina, USA. 43Institute of Population Genetics, National Research Council, Sassari, Italy. 44School of Women's and Infants' Health, University of Western Australia, Perth, Western Australia, Australia. 45Department of Molecular Epidemiology, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia. 46Medical Research Council Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, UK. 47Ulverscroft Vision Research Group, University College London, London, UK. 48Imperial College Cerebrovascular Research Unit (ICCRU), Division of Brain Sciences, Department of Medicine, Imperial College London, London, UK. 49Department of Ophthalmology, Centre for Vision Research, Westmead Millennium Institute, University of Sydney, Sydney, New South Wales, Australia. 50Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA. 51Department of Ophthalmology and Visual Sciences, Case Western Reserve University and University Hospitals Eye Institute, Cleveland, Ohio, USA. 52National Eye Institute, US National Institutes of Health, Bethesda, Maryland, USA. 53Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA. 54Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute of Neurosciences (NIN; an Institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands. 55Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK. 56Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. 57Faculty of Medicine, University of Split, Split, Croatia. 58Department of Ophthalmology, Sisters of Mercy University Hospital, Zagreb, Croatia. 59Princess Alexandra Eye Pavilion, Edinburgh, UK. 60Clinic for General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany. 61Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague, The Netherlands. 62Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. 63Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. 64Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands. 65Department of Statistics and Applied Probability, National University of Singapore, Singapore. 66Institute of Ophthalmology, Moorfields Eye Hospital, London, UK. 67Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA. (literal)
Titolo
  • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (literal)
Abstract
  • Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia (literal)
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