Genetic Epidemiology, Translational Neurogenomics, Psychiatric 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
32193507
TITLE
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.
ABSTRACT
Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.
DATE PUBLISHED
2020 Mar 19
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2019/08/22
accepted 2020/01/24
entrez 2020/03/21 06:00
pubmed 2020/03/21 06:00
medline 2020/03/21 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Fan Q Fan Qiao Q Ophthalmology & Visual Sciences Academic Clinical Program (Eye ACP), Duke-NUS Medical School, Singapore, Singapore. qiao.fan@duke-nus.edu.sg.
Pozarickij A Pozarickij Alfred A School of Optometry and Vision Sciences, Cardiff University, Cardiff, CF24 4HQ, UK.
Tan NYQ Tan Nicholas Y Q NYQ Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Guo X Guo Xiaobo X Southern China Center for Statistical Science, Sun Yat-Sen University, Guangzhou, China.
Verhoeven VJM Verhoeven Virginie J M VJM Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Vitart V Vitart Veronique V Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Guggenheim JA Guggenheim Jeremy A JA School of Optometry and Vision Sciences, Cardiff University, Cardiff, CF24 4HQ, UK.
Miyake M Miyake Masahiro M Department of Ophthalmology and Visual Sciences, Kyoto University, Kyoto, 6068507, Japan.
Tideman JWL Tideman J Willem L JWL Department of Epidemiology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Khawaja AP Khawaja Anthony P AP Department of Public Health and Primary Care, Institute of Public Health, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Zhang L Zhang Liang L Ocular Epidemiology Research Group, Singapore Eye Research Institute, Singapore, Singapore.
MacGregor S MacGregor Stuart S QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Höhn R Höhn René R Department of Ophthalmology, Inselspital, University Hospital Bern, University of Bern, Bern, 3010, Switzerland.
Chen P Chen Peng P Saw Swee Hock School of Public Health, National University Health Systems, National University of Singapore, Singapore, Singapore.
Biino G Biino Ginevra G Institute of Molecular Genetics, National Research Council of Italy, Pavia, 27100, Italy.
Wedenoja J Wedenoja Juho J Department of Public Health, University of Helsinki, Helsinki, FI-00290, Finland.
Saffari SE Saffari Seyed Ehsan SE Centre for Quantitative Medicine, Duke-NUS Medical School, 20 College Road, 169856, Singapore, Singapore.
Tedja MS Tedja Milly S MS Department of Epidemiology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Xie J Xie Jing J Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, 3002, Australia.
Lanca C Lanca Carla C Myopia Research Group, Singapore Eye Research Institute, Singapore, Singapore.
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.
Sahebjada S Sahebjada Srujana S Department of Surgery, Ophthalmology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, 3002, Australia.
Mazur J Mazur Johanna J Institute for Medical Biostatistics, Epidemiology and Informatics, University Medical Center of the Johannes Gutenberg-University Mainz, 55131, Mainz, Germany.
Mirshahi A Mirshahi Alireza A Dardenne Eye Hospital, Bonn-Bad Godesberg, Godesberg, 53117, Germany.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Yazar S Yazar Seyhan S Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.
Pennell CE Pennell Craig E CE School of Women's and Infants' Health, The University of Western Australia, Perth, WA, 6009, Australia.
Yap M Yap Maurice M School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China.
Haarman AEG Haarman Annechien E G AEG Department of Epidemiology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Enthoven CA Enthoven Clair A CA Department of Epidemiology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Polling J Polling JanRoelof J Orthoptics & Optometry, University of Applied Sciences, Utrecht, Netherlands.
Consortium for Refractive Error and Myopia (CREAM)
UK Biobank Eye and Vision Consortium
Hewitt AW Hewitt Alex W AW Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, Australia.
Jaddoe VWV Jaddoe Vincent W V VWV Generation R Study Group, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
van Duijn CM van Duijn Cornelia M CM Department of Epidemiology, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.
Hayward C Hayward Caroline C Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Polasek O Polasek Ozren O Faculty of Medicine, University of Split, Croatia, Split, 21000, Croatia.
Tai ES Tai E-Shyong ES Saw Swee Hock School of Public Health, National University Health Systems, National University of Singapore, Singapore, Singapore.
Yoshikatsu H Yoshikatsu Hosoda H Department of Ophthalmology and Visual Sciences, Kyoto University, Kyoto, 6068507, Japan.
Hysi PG Hysi Pirro G PG Section of Academic Ophthalmology, School of Life Course Sciences, King's College London, London, UK.
Young TL Young Terri L TL Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, USA.
Tsujikawa A Tsujikawa Akitaka A Department of Ophthalmology and Visual Sciences, Kyoto University, Kyoto, 6068507, Japan.
Wang JJ Wang Jie Jing JJ Centre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, NSW, 2145, Australia.
Mitchell P Mitchell Paul P Centre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, NSW, 2145, Australia.
Pfeiffer N Pfeiffer Norbert N Department of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, 55131, Mainz, Germany.
Pärssinen O Pärssinen Olavi O Department of Ophthalmology, Central Hospital of Central Finland, Jyväskylä, FI-40100, Finland.
Foster PJ Foster Paul J PJ NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 2PD, UK.
Fossarello M Fossarello Maurizio M Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, 09131, Italy.
Yip SP Yip Shea Ping SP Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China.
Williams C Williams Cathy C Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 1NU, UK.
Hammond CJ Hammond Christopher J CJ Section of Academic Ophthalmology, School of Life Course Sciences, King's College London, London, UK.
Jonas JB Jonas Jost B JB Department of Ophthalmology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
He M He Mingguang M Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, VIC, Australia.
Mackey DA Mackey David A DA Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, Australia.
Wong TY Wong Tien-Yin TY Duke-NUS Medical School, Singapore, Singapore.
Klaver CCW Klaver Caroline C W CCW Department Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.
Saw SM Saw Seang-Mei SM Myopia Research Group, Singapore Eye Research Institute, Singapore, Singapore.
Baird PN Baird Paul N PN Department of Surgery, Ophthalmology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, 3002, Australia.
Cheng CY Cheng Ching-Yu CY Ocular Epidemiology Research Group, Singapore Eye Research Institute, Singapore, Singapore. cheng.ching.yu@seri.com.sg.
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Bailey-Wilson Joan E JE
Veluchamy Amutha Barathi AB
Burdon Kathryn P KP
Campbell Harry H
Chen Li Jia LJ
Chew Emily Y EY
Craig Jamie E JE
Cumberland Phillippa M PM
Deangelis Margaret M MM
Delcourt Cécile C
Ding Xiaohu X
Evans David M DM
Gharahkhani Puya P
Iglesias Adriana I AI
Haller Toomas T
Han Xikun X
Hoang Quan Q
Igo Robert P RP
Iyengar Sudha K SK
Kähönen Mika M
Kaprio Jaakko J
Klein Barbara E BE
Klein Ronald R
Lass Jonathan H JH
Lee Kris K
Lehtimäki Terho T
Lewis Deyana D DD
Li Qing Q
Li Shi-Ming SM
Lyytikäinen Leo-Pekka LP
Meguro Akira A
Metspalu Andres A
Middlebrooks Candace D CD
Mizuki Nobuhisa N
Musolf Anthony M AM
Nickels Stefan S
Oexle Konrad K
Pang Chi Pui CP
Paterson Andrew D AD
Rahi Jugnoo S JS
Raitakari Olli O
Rudan Igor I
Stambolian Dwight D
Simpson Claire L CL
Wang Ningli N
Bin Wei Wen W
Williams Katie M KM
Wilson James F JF
Wojciechowski Robert R
Yamashiro Kenji K
Yam Jason C S JCS
Zhou Xiangtian X
Aslam Tariq T
Barman Sarah A SA
Barrett Jenny H JH
Bishop Paul P
Blows Peter P
Bunce Catey C
Carare Roxana O RO
Chakravarthy Usha U
Chan Michelle M
Chua Sharon Y L SYL
Crabb David P DP
Cumberland Philippa M PM
Day Alexander A
Desai Parul P
Dhillon Bal B
Dick Andrew D AD
Egan Cathy C
Ennis Sarah S
Fruttiger Marcus M
Gallacher John E J JEJ
Garway-Heath David F DF
Gibson Jane J
Gore Dan D
Hardcastle Alison A
Harding Simon P SP
Hogg Ruth E RE
Keane Pearse A PA
Khaw Sir Peng T SPT
Lascaratos Gerassimos G
Lotery Andrew J AJ
Macgillivray Tom T
Mackie Sarah S
Martin Keith K
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 G CG
Patel Praveen P
Paterson Euan E
Peto Tunde T
Petzold Axel A
Rahi Jugnoo S JS
Rudnikca Alicja R AR
Self Jay J
Sivaprasad Sobha S
Steel David D
Stratton Irene I
Strouthidis Nicholas N
Sudlow Cathie C
Thomas Dhanes D
Trucco Emanuele E
Tufail Adnan A
Vernon Stephen A SA
Viswanathan Ananth C AC
Williams Katie K
Woodside Jayne V JV
Yates Max M MM
Yip Jennifer J
Zheng Yalin Y
JOURNAL
VOLUME: 3
ISSUE: 1
TITLE: Communications biology
ISOABBREVIATION: Commun Biol
YEAR: 2020
MONTH: Mar
DAY: 19
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 2399-3642
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Commun Biol
COUNTRY: England
ISSNLINKING: 2399-3642
NLMUNIQUEID: 101719179
PUBLICATION TYPE
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Journal Article
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