|
PMID |
|
|
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 |
|
|
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 |
|
PUBLICATIONTYPE TEXT |
Journal Article |
|
COMMENTS AND CORRECTIONS |
|
|
GRANTS |
|
|
GENERAL NOTE |
|
|
KEYWORDS |
|
|
MESH HEADINGS |
|
|
SUPPLEMENTARY MESH |
|
|
GENE SYMBOLS |
|
|
CHEMICALS |
|
|
OTHER ID's |
|
|
|