Journal article

A genome-wide association study of corneal astigmatism: The CREAM Consortium

Rupal L Shah, Qing Li, Wanting Zhao, Milly S Tedja, J Willem L Tideman, Anthony P Khawaja, Qiao Fan, Seyhan Yazar, Katie M Williams, Virginie JM Verhoeven, Jing Xie, Ya Xing Wang, Moritz Hess, Stefan Nickels, Karl J Lackner, Olavi Parssinen, Juho Wedenoja, Ginevra Biino, Maria Pina Concas, Andre Uitterlinden Show all

Molecular Vision | MOLECULAR VISION | Published : 2018

Grants

Awarded by Wellcome Trust


Awarded by NIHR Senior Research Fellowship


Awarded by Wellcome Trust ISSF Populations Pilot Award


Awarded by National Natural Science Foundation of China


Awarded by National Health and Medical Research Council of Australia (NHMRC) Senior Research Fellowship


Awarded by Medical Research Council


Awarded by Cancer Research UK


Awarded by Research into Aging


Awarded by ENGAGE (FP7-HEALTH-F4)


Awarded by European Union through the GENOMEUTWIN project


Awarded by Academy of Finland Center of Excellence in Complex Disease Genetics


Awarded by UitZicht


Awarded by Gutenberg Health Study


Awarded by National Genome Network "NGFNplus", Federal Ministry of Education and Research, Germany


Awarded by Italian Ministry of Education, University and Research (MIUR)


Awarded by Australian National Health and Medical Research Council (NHMRC) project


Awarded by NHMRC CJ Martin Early Career Fellowship


Awarded by Dutch governmental Innovational Research Incentives Scheme Grant


Awarded by Horizon ERC Consolidator Grant


Awarded by National Medical Research Council (NMRC), Singapore


Awarded by Biomedical Research Council, Singapore


Awarded by NMRC


Awarded by Biomedical Research Council (BMRC)


Funding Acknowledgements

ALSPAC. The Avon Longitudinal Study of Parents and Children (ALSPAC) team and authors are extremely grateful to all the families who took part in this study, the midwives for their help in recruiting them, and the whole ALSPAC team, which includes interviewers, computer and laboratory technicians, clerical workers, research scientists, volunteers, managers, receptionists and nurses. The UK Medical Research Council and Wellcome Trust (Grant ref: 102215/2/13/2) and the University of Bristol provide core support for ALSPAC. GWAS data was generated by Sample Logistics and Genotyping Facilities at Wellcome Sanger Institute and LabCorp (Laboratory Corportation of America) using support from 23andMe. This publication is the work of the authors and JAG and CW will serve as guarantors for the contents of this paper. This research was specifically funded by NIHR Senior Research Fellowship SRF-2015-08-005 (CW) and a Wellcome Trust ISSF Populations Pilot Award (grant 508353/509506). Ethical approval for the ALSPAC study was obtained from the ALSPAC Ethics and Law Committee and the Local Research Ethics Committees. Please note that the ALSPAC study website contains details of all the data that is available through a fully searchable data dictionary: http://www.bris.ac.uk/alspac/researchers/dataaccess/data-dictionary/. ALSPAC children with available genotype data and corneal curvature phenotype information formed the GWAS sample (Table 1). A description of the ALSPAC study cohort is available [52]. BES. The Beijing Eye Study (BES) was supported by National Natural Science Foundation of China (grant # 81770890). This publication is the work of the authors and YXW and JBJ will serve as guarantors for the contents of this paper. The study was approved by the Medical Ethics Committee of the Beijing Tongren Hospital. A description of the BES study cohort is available [53]. BMES. The Blue Mountains Eye Study (BMES) acknowledge funding from the National Health and Medical Research Council of Australia (NHMRC) Senior Research Fellowship 1138585 (PNB). The Centre for Eye Research Australia (CERA) receives Operational Infrastructure Support from the Victorian Government. Details of the BMES cohort have been published previously [54]. EPIC. The European Prospective Investigation of Cancer (EPIC)Norfolk infrastructure and core functions are supported by grants from the Medical Research Council (G1000143) and Cancer Research UK (C864/A14136). The clinic for the third health examination was funded by Research into Aging (262). Mr Khawaja was a Wellcome Trust Clinical Research Fellow at the time of analysis. The EPIC-Norfolk Eye Study was performed following the principles of the Declaration of Helsinki and the Research Governance Framework for Health and Social Care. The study was approved by the Norfolk Local Research Ethics Committee (05/Q0101/191) and East Norfolk & Waveney NHS Research Governance Committee (2005EC07L). All participants gave written, informed consent. A description of the EPIC study cohort is available [55]. FITSA. Finnish Twin Study on Aging (FITSA) is a study of genetic and environmental effects on the disablement process in older female twins. The study cohort of 13,888 adult twin pairs started in 1975. Altogether 103 MZ and 114 DZ twin pairs (424 individuals, all women of European ancestry) aged 63-76 years living in Finland took part in multiple laboratory examinations in 2000 and 2003, and responded in questionnaires in 2011.Before the examinations, the subjects provided a written informed consent according to the Declaration of Helsinki. The study protocol was approved by the ethics committee of the Central Hospital District of Central Finland. FITSA was supported by ENGAGE (FP7-HEALTH-F4-2007, 201,413); European Union through the GENOMEUTWIN project (QLG2-CT-2002-01254); the Academy of Finland Center of Excellence in Complex Disease Genetics (213506, 129680); the Academy of Finland Aging Programme; and the Finnish Ministry of Culture and Education and University of Jyvaskyla, Silmasaatio Foundation and Evald & Hilda Nissi Foundation. For FITSA the contributions of Emmi Tikkanen, Samuli Ripatti, Markku Kauppinen, Taina Rantanen and Jaakko Kaprio are acknowledged. A description of the FITSA cohort has been published [56]. Generation R. The Generation R study is conducted by the Erasmus Medical Centre in close collaboration with the School of Law and Faculty of Social Sciences of the Erasmus University Rotterdam, the Municipal Health Service Rotterdam, the Rotterdam Homecare Foundation, and the Stichting Trombosedienst & Artsenlaboratorium Rijnmond (Star-MDC), Rotterdam. We gratefully acknowledge the contribution of the children and parents, as well as the participating general practitioners, hospitals, midwives, and pharmacies in Rotterdam. The Generation R study is made possible by financial support from the Erasmus Medical Centre, Rotterdam; the Netherlands Organisation for Scientific Research (NWO); the Netherlands Organisation for Health Research and Development (ZonMw); the Dutch Ministry of Education, Culture and Science; the Dutch Ministry of Health, Welfare, and Sports; the European Commission (DG XII); and UitZicht (Grant 2013-24). The study protocol was approved by the Medical Ethical Committee of the Erasmus Medical Centre, Rotterdam (MEC 217.595/2002/20), and written informed consent was obtained from all participants. Research was conducted according to the declaration of Helsinki. A description of the Generation R study has been published [57]. Gutenberg Health Study (GHS 1 and GHS 2). The Gutenberg Health Study is a population-based, prospective, observational cohort study in mid-western Germany that includes consecutive follow-ups every five years. The primary study aim is to evaluate and improve cardiovascular risk stratification and the general health status of the population. The baseline examination included a total of 15,010 participants aged 35 to 74 years and took place from 2007 to 2012. The participants were randomly drawn and equally stratified for sex, residence (urban or rural) and for each decade of age. Exclusion criteria were the following: insufficient knowledge of German and physical or mental inability to participate in the examinations in the study center. The study protocol and study documents were approved by the local ethics committee of the Medical Chamber of Rhineland-Palatinate, Germany (reference no. 837.020.07; original vote: 22.3.2007, latest update: 20.10.2015). According to the tenets of the Declaration of Helsinki, written informed consent was obtained from all participants before their entry into the study.The Gutenberg Health Study is funded through the government of Rhineland-Palatinate ("Stiftung Rheinland-Pfalz fur Innovation," contract AZ 961-386261/733), the research programs "Wissen schafft Zukunft" and "Center for Translational Vascular Biology (CTVB)" of the Johannes Gutenberg-University of Mainz, the National Genome Network "NGFNplus" by the Federal Ministry of Education and Research, Germany (A301GS0833) and its contracts with Boehringer Ingelheim and PHILIPS Medical Systems. We thank all study participants for their willingness to provide data for this research project and we are indebted to all coworkers for their enthusiastic commitment. A description of the ophthalmic arm of the GHS has been published [58]. OGP. The Ogliastra Genetic Park (OGP) study authors would like to express their gratitude to all the study participants for their contributions, to the municipal administrations for their economic and logistic support and, to the whole OGP team, which includes interviewers, computer and laboratory technicians, research scientists, physicians and nurses. This research was supported by grant from the Italian Ministry of Education, University and Research (MIUR) no: 5571/DSPAR/2002. The research protocol of the study was approved by the institutional review board of the Italian Ministry of Education, University and Research. It adheres to the tenets of the declaration of Helsinki, furthermore written informed consent was obtained from all participants. A description of the OGP study cohort has been published [59]. RAINE (Western Australian Pregnancy Cohort). We are grateful to all the study participants. We also thank the Raine Study and Lions Eye Institute (LEI) research staff for cohort coordination and data collection. The core management of the Raine Study is funded by The University of Western Australia (UWA), The Telethon Institute for Child Health Research, Raine Medical Research Foundation, UWA Faculty of Medicine, Dentistry and Health Sciences, Women's and Infant's Research Foundation and Curtin University. Genotyping was funded by Australian National Health and Medical Research Council (NHMRC) project grant 1021105. Support for the REHS was provided by LEI, the Australian Foundation for the Prevention of Blindness and ORIA. SY is supported by NHMRC CJ Martin Early Career Fellowship (#1111437). A description of the RAINE Eye Health Study study cohort is available [60]. Rotterdam Study (RS1, RS2, RS3). The Rotterdam Study is a prospective population-based cohort study in the elderly living in Ommoord, a suburb of Rotterdam, the Netherlands. In brief, the Rotterdam Study consists of 3 independent cohorts: RS1, RS2, and RS3. For the current analysis, 5,328 residents aged 55 years and older were included from RS1, 2,009 participants aged 55 and older from RS2, and 1,970 aged 45 and older from RS 3. 99% of subjects were of European ancestry. Participants underwent multiple physical examinations with regular intervals from 1991 to present, including a non-dilated automated measurement of refractive error using a Topcon RM-A2000 autorefractor. All measurements in RS-1-3 were conducted after the Medical Ethics Committee of the Erasmus University had approved the study protocols and all participants had given a written informed consent in accordance with the Declaration of Helsinki.The Rotterdam Study was supported by the Dutch governmental Innovational Research Incentives Scheme Grant (VICI 91815655); Horizon2020 ERC Consolidator Grant (648268); Erasmus Medical Center and Erasmus University, Rotterdam, The Netherlands; Netherlands Organization for Health Research and Development (ZonMw); UitZicht; the Research Institute for Diseases in the Elderly; the Ministry of Education, Culture and Science; the Ministry for Health, Welfare and Sports; the European Commission (DG XII); the Municipality of Rotterdam; the Netherlands Genomics Initiative/NWO; Center for Medical Systems Biology of NGI; Lijf en Leven; Henkes Stichting; Landelijke Stichting voor Blinden en Slechtzienden; Oogfonds; MaculaFonds. We acknowledge Ada Hooghart, Corina Brussee, Riet Bernaerts-Biskop, Patricia van Hilten, Pascal Arp, Jeanette Vergeer, Marijn Verkerk; Sander Bervoets for their valuable contributions. A description of the Rotterdam study has been published [61]. SCES, SIMES and SINDI. The Singapore Chinese Eye Study (SCES), Singapore Malay Eye Study (SiMES) and Singapore Indian Eye Study (SINDI) were supported by the National Medical Research Council (NMRC), Singapore (grants 0796/2003, 1176/2008, 1149/2008, STaR/0003/2008, 1249/2010, CG/SERI/2010, CIRG/1371/2013, and CIRG/1417/2015), and Biomedical Research Council, Singapore (08/1/35/19/550 and 09/1/35/19/616). Ching-Yu Cheng is supported by an award from NMRC (CSA/033/2012). Descriptions of the SCES, SIMES and SINDI cohorts have been published [62-64]. SCORM. The Singapore Cohort Study of the Risk Factors for Myopia (SCORM) was supported by the Biomedical Research Council (BMRC) 06/1/21/19/466. A description of the SCORM cohort has been published [65]. STARS. The Singaporean Chinese in the Strabismus, Amblyopia, and Refractive Error Study (STARS) was supported by National Medical Research Council (NMRC), Singapore (grants 1176/2008). A description of the STARS cohort has been published [66]. TwinsUK. The TwinsUK adult twin registry based at St. Thomas' Hospital in London is a volunteer cohort of over 10,000 twins from the general population. Twins largely volunteered unaware of the eye studies, gave fully informed consent under a protocol reviewed by the St. Thomas' Hospital Local Research Ethics Committee. TwinsUK is funded by the Wellcome Trust and the European Community's Seventh Framework Programme (FP7/2007-2013). The study also receives support from the National Institute for Health Research Clinical Research Facility at Guy's and St. Thomas' National Health Service Foundation Trust and National Institute for Health Research Biomedical Research Centre at Guy's and St. Thomas' National Health Service Foundation Trust and King's College London. Keratometry was obtained using the VX-120 ocular diagnostic device (Visionix (R), Luneau Technology Group). A description of the TwinsUK study cohort is available [67]. CREAM Meta-analyses. This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health.