Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
29808027
TITLE
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
ABSTRACT
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers.
DATE PUBLISHED
2018 May 28
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2017/05/22
accepted 2018/03/26
entrez 2018/05/30 06:00
pubmed 2018/05/29 06:00
medline 2018/05/29 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Tedja MS Tedja Milly S MS Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Wojciechowski R Wojciechowski Robert R Wilmer Eye Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Hysi PG Hysi Pirro G PG Section of Academic Ophthalmology, School of Life Course Sciences, King's College London, London, UK.
Eriksson N Eriksson Nicholas N 23andMe, Inc., Mountain View, CA, USA.
Furlotte NA Furlotte Nicholas A NA 23andMe, Inc., Mountain View, CA, USA.
Verhoeven VJM Verhoeven Virginie J M VJM Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Iglesias AI Iglesias Adriana I AI Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Meester-Smoor MA Meester-Smoor Magda A MA Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Tompson SW Tompson Stuart W SW Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, USA.
Fan Q Fan Qiao Q Centre for Quantitative Medicine, DUKE-National University of Singapore, Singapore, Singapore.
Khawaja AP Khawaja Anthony P AP NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Cheng CY Cheng Ching-Yu CY Ocular Epidemiology Research Group, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Höhn R Höhn René R Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Yamashiro K Yamashiro Kenji K Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Wenocur A Wenocur Adam A Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.
Grazal C Grazal Clare C Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.
Haller T Haller Toomas T Estonian Genome Center, University of Tartu, Tartu, Estonia.
Metspalu A Metspalu Andres A Estonian Genome Center, University of Tartu, Tartu, Estonia.
Wedenoja J Wedenoja Juho J Department of Public Health, University of Helsinki, Helsinki, Finland.
Jonas JB Jonas Jost B JB Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Wang YX Wang Ya Xing YX Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Xie J Xie Jing J Centre for Eye Research Australia, Ophthalmology, Department of Surgery, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Mitchell P Mitchell Paul P Department of Ophthalmology, Centre for Vision Research, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Foster PJ Foster Paul J PJ NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
Klein BEK Klein Barbara E K BEK Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, USA.
Klein R Klein Ronald R Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, USA.
Paterson AD Paterson Andrew D AD Program in Genetics and Genome Biology, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Hosseini SM Hosseini S Mohsen SM Program in Genetics and Genome Biology, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Shah RL Shah Rupal L RL School of Optometry & Vision Sciences, Cardiff University, Cardiff, UK.
Williams C Williams Cathy C Department of Population Health Sciences, Bristol Medical School, Bristol, UK.
Teo YY Teo Yik Ying YY Saw Swee Hock School of Public Health, National University Health Systems, National University of Singapore, Singapore, Singapore.
Tham YC Tham Yih Chung YC Ocular Epidemiology Research Group, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Gupta P Gupta Preeti P Department of Health Service Research, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Zhao W Zhao Wanting W Statistics Support Platform, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Shi Y Shi Yuan Y Statistics Support Platform, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Saw WY Saw Woei-Yuh WY Life Sciences Institute, National University of Singapore, Singapore, Singapore.
Tai ES Tai E-Shyong ES Saw Swee Hock School of Public Health, National University Health Systems, National University of Singapore, Singapore, Singapore.
Sim XL Sim Xue Ling XL Saw Swee Hock School of Public Health, National University Health Systems, National University of Singapore, Singapore, Singapore.
Huffman JE Huffman Jennifer E JE MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Polašek O Polašek Ozren O Faculty of Medicine, University of Split, Split, Croatia.
Hayward C Hayward Caroline C MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Bencic G Bencic Goran G Department of Ophthalmology, Sisters of Mercy University Hospital, Zagreb, Croatia.
Rudan I Rudan Igor I Centre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
Wilson JF Wilson James F JF Centre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
CREAM Consortium
23andMe Research Team
UK Biobank Eye and Vision Consortium
Joshi PK Joshi Peter K PK Centre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
Tsujikawa A Tsujikawa Akitaka A Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Matsuda F Matsuda Fumihiko F Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Whisenhunt KN Whisenhunt Kristina N KN Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, USA.
Zeller T Zeller Tanja T Clinic for General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany.
van der Spek PJ van der Spek Peter J PJ Department of Bioinformatics, Erasmus Medical Center, Rotterdam, The Netherlands.
Haak R Haak Roxanna R Department of Bioinformatics, Erasmus Medical Center, Rotterdam, The Netherlands.
Meijers-Heijboer H Meijers-Heijboer Hanne H Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
van Leeuwen EM van Leeuwen Elisabeth M EM Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Iyengar SK Iyengar Sudha K SK Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.
Lass JH Lass Jonathan H JH Department of Ophthalmology and Visual Sciences, Case Western Reserve University and University Hospitals Eye Institute, Cleveland, OH, USA.
Hofman A Hofman Albert A Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague, The Netherlands.
Rivadeneira F Rivadeneira Fernando F Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Uitterlinden AG Uitterlinden André G AG Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Vingerling JR Vingerling Johannes R JR Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Lehtimäki T Lehtimäki Terho T Department of Clinical Chemistry, Fimlab Laboratories, University of Tampere, Tampere, Finland.
Raitakari OT Raitakari Olli T OT Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, Finland.
Biino G Biino Ginevra G Institute of Molecular Genetics, National Research Council of Italy, Pavia, Italy.
Concas MP Concas Maria Pina MP Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy.
Schwantes-An TH Schwantes-An Tae-Hwi TH Department of Medical and Molecular Genetics, Indiana University, School of Medicine, Indianapolis, IN, USA.
Igo RP Jr Igo Robert P RP Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Cuellar-Partida G Cuellar-Partida Gabriel G Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Martin NG Martin Nicholas G NG Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Craig JE Craig Jamie E JE Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Gharahkhani P Gharahkhani Puya P Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Williams KM Williams Katie M KM Section of Academic Ophthalmology, School of Life Course Sciences, King's College London, London, UK.
Nag A Nag Abhishek A Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Rahi JS Rahi Jugnoo S JS Ulverscroft Vision Research Group, University College London, London, UK.
Cumberland PM Cumberland Phillippa M PM Great Ormond Street Institute of Child Health, University College London, London, UK.
Delcourt C Delcourt Cécile C Université de Bordeaux, Inserm, Bordeaux Population Health Research Center, team LEHA, UMR 1219, F-33000, Bordeaux, France.
Bellenguez C Bellenguez Céline C Université de Lille, U1167-Excellence Laboratory LabEx DISTALZ, Lille, France.
Ried JS Ried Janina S JS Research Unit of Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Bergen AA Bergen Arthur A AA Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, The Netherlands.
Meitinger T Meitinger Thomas T Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Gieger C Gieger Christian C Research Unit of Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Wong TY Wong Tien Yin TY Retino Center, Singapore National Eye Centre, Singapore, Singapore.
Hewitt AW Hewitt Alex W AW Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Mackey DA Mackey David A DA Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Simpson CL Simpson Claire L CL Department of Genetics, Genomics and Informatics, University of Tennessee Health Sciences Center, Memphis, TN, USA.
Pfeiffer N Pfeiffer Norbert N Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
Pärssinen O Pärssinen Olavi O Gerontology Research Center, Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland.
Baird PN Baird Paul N PN Centre for Eye Research Australia, Ophthalmology, Department of Surgery, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Vitart V Vitart Veronique V MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Amin N Amin Najaf N Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
van Duijn CM van Duijn Cornelia M CM Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Bailey-Wilson JE Bailey-Wilson Joan E JE Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Young TL Young Terri L TL Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, USA.
Saw SM Saw Seang-Mei SM Myopia Research Group, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Stambolian D Stambolian Dwight D Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.
MacGregor S MacGregor Stuart S Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Guggenheim JA Guggenheim Jeremy A JA School of Optometry & Vision Sciences, Cardiff University, Cardiff, UK.
Tung JY Tung Joyce Y JY 23andMe, Inc., Mountain View, CA, USA.
Hammond CJ Hammond Christopher J CJ Section of Academic Ophthalmology, School of Life Course Sciences, King's College London, London, UK.
Klaver CCW Klaver Caroline C W CCW Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands. c.c.w.klaver@erasmusmc.nl.
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Aung Tin T
Veluchamy Amutha B AB
Burdon Kathryn P KP
Campbell Harry H
Chen Li Jia LJ
Chen Peng P
Chen Wei W
Chew Emily E
Deangelis Margaret M MM
Ding Xiaohu X
Döring Angela A
Evans David M DM
Feng Sheng S
Fleck Brian B
Fogarty Rhys D RD
Fondran Jeremy R JR
Fossarello Maurizio M
Guo Xiaobo X
Haarman Annet E G AEG
He Mingguang M
Howe Laura D LD
Janmahasatian Sarayut S
Jhanji Vishal V
Kähönen Mika M
Kaprio Jaakko J
Kemp John P JP
Khaw Kay-Tee KT
Khor Chiea-Chuen CC
Krapohl Eva E
Korobelnik Jean-François JF
Lee Kris K
Li Shi-Ming SM
Lu Yi Y
Luben Robert N RN
Mäkelä Kari-Matti KM
McMahon George G
Meguro Akira A
Mihailov Evelin E
Miyake Masahiro M
Mizuki Nobuhisa N
Morrison Margaux M
Nangia Vinay V
Oexle Konrad K
Panda-Jonas Songhomitra S
Pang Chi Pui CP
Pirastu Mario M
Plomin Robert R
Rantanen Taina T
Schache Maria M
Seppälä Ilkka I
Smith George D GD
Pourcain Beate St BS
Tam Pancy O PO
Tideman J Willem L JWL
Timpson Nicholas J NJ
Vaccargiu Simona S
Vatavuk Zoran Z
Wang Jie Jin JJ
Wang Ningli N
Wareham Nick J NJ
Wright Alan F AF
Xu Liang L
Yap Maurice K H MKH
Yazar Seyhan S
Yip Shea Ping SP
Yoshimura Nagahisa N
Young Alvin L AL
Zhao Jing Hua JH
Zhou Xiangtian X
Agee Michelle M
Alipanahi Babak B
Auton Adam A
Bell Robert K RK
Bryc Katarzyna K
Elson Sarah L SL
Fontanillas Pierre P
Hinds David A DA
McCreight Jennifer C JC
Huber Karen E KE
Kleinman Aaron A
Litterman Nadia K NK
McIntyre Matthew H MH
Mountain Joanna L JL
Noblin Elizabeth S ES
Northover Carrie A M CAM
Pitts Steven J SJ
Sathirapongsasuti J Fah JF
Sazonova Olga V OV
Shelton Janie F JF
Shringarpure Suyash S
Tian Chao C
Vacic Vladimir V
Wilson Catherine H CH
Aslam Tariq M TM
Barman Sarah A SA
Barrett Jenny H JH
Bishop Paul N PN
Blows Peter P
Bunce Catey C
Carare Roxana O RO
Chakravarthy Usha U
Chan Michelle M
Chua Sharon S
Crabb David D
Day Alexander A
Desai Parul P
Dhillon Bal B
Dick Andrew D AD
Egan Cathy A CA
Ennis Sarah S
Fruttiger Marcus M
Gallacher John J
Garway-Heath David F DF
Gibson Jane J
Gore Dan M DM
Hardcastle Alison A
Harding Simon P SP
Hogg Ruth E RE
Keane Pearse A PA
Khaw Peng Tee PT
Lascaratos Gerassimos G
Lotery Andrew A
Luthert Phil J PJ
MacGillivray Tom J TJ
Mackie Sarah L SL
Martin Keith R KR
McGaughey Michelle M
McGuinness Bernadette B
McKay Gareth J GJ
McKibbin Martin M
Mitry Danny D
Moore Tony T
Morgan James E JE
Muthy Zaynah A ZA
O'Sullivan Eoin E
Owen Chris C
Patel Praveen J PJ
Paterson Euan N EN
Peto Tunde T
Petzold Axel A
Rudnicka Alicja R AR
Self Jay E JE
Sivaprasad Sobha S
Steel David H W DHW
Stratton Irene M IM
Strouthidis Nicholas N
Sudlow Cathie L M CLM
Thaung Caroline C
Thomas Dhanes D
Trucco Emanuele E
Tufail Adnan A
Vernon Stephen A SA
Viswanathan Ananth C AC
Woodside Jayne V JV
Yates Max M
Yip Jennifer L Y JLY
Zheng Yalin Y
JOURNAL
VOLUME:
ISSUE:
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2018
MONTH: May
DAY: 28
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
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