机构:[1]Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands[2]Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands[3]Institute for Molecular Medicine, University of Helsinki, Helsinki, Finland[4]Department of Public Health, University of Helsinki, Helsinki, Finland[5]Centre for Eye Research Australia, Ophthalmology, Department of Surgery, University of Melbourne, Royal Victorian Eye and EarHospital, Melbourne, Victoria, Australia[6]Department of Ophthalmology, Menzies Institute of Medical Research, University of Tasmania, Hobart, Tasmania, Australia[7]Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia,Australia[8]School of Optometry and Vision Sciences, Cardiff University, Cardiff, United Kingdom[9]Section of Academic Ophthalmology, School of Life Course Sciences, King’s College London, London, United Kingdom[10]Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands[11]Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands
The knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years. This white paper aims to provide a concise summary of current genetic findings and defines the direction where development is needed. We performed an extensive literature search and conducted informal discussions with key stakeholders. Specific topics reviewed included common refractive error, any and high myopia, and myopia related to syndromes. To date, almost 200 genetic loci have been identified for refractive error and myopia, and risk variants mostly carry low risk but are highly prevalent in the general population. Several genes for secondary syndromic myopia overlap with those for common myopia. Polygenic risk scores show overrepresentation of high myopia in the higher deciles of risk. Annotated genes have a wide variety of functions, and all retinal layers appear to be sites of expression. The current genetic findings offer a world of new molecules involved in myopiagenesis. As the missing heritability is still large, further genetic advances are needed. This Committee recommends expanding large-scale, in-depth genetic studies using complementary big data analytics, consideration of gene-environment effects by thorough measurement of environmental exposures, and focus on subgroups with extreme phenotypes and high familial occurrence. Functional characterization of associated variants is simultaneously needed to bridge the knowledge gap between sequence variance and consequence for eye growth.
基金:
European Research Council (ERC) under the European Union's Horizon 2020 Research and Innovation ProgrammeEuropean Research Council (ERC) [648268]; Netherlands Organisation for Scientific Research (NWO)Netherlands Organization for Scientific Research (NWO) [91815655, 91617076]; National Eye InstituteUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Eye Institute (NEI) [R01EY020483]; Oogfonds; ODAS; Uitzicht [2017-28]; Uitzicht (Oogfonds); Uitzicht (Landelijke Stichting voor Blinden en Slechtzienden); Uitzicht (MaculaFonds); International Myopia Institute
第一作者机构:[1]Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands[2]Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
共同第一作者:
通讯作者:
通讯机构:[1]Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands[2]Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands[11]Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands[*1]Klaver, Erasmus Medical Center, Room Na-2808, P.O. Box 2040, 3000 CA, Rotterdam, the Netherlands
推荐引用方式(GB/T 7714):
Milly S. Tedja,Annechien E. G. Haarman,Magda A. Meester-Smoor,et al.IMI - Myopia Genetics Report[J].INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE.2019,60(3):M89-M105.doi:10.1167/iovs.18-25965.
APA:
Milly S. Tedja,Annechien E. G. Haarman,Magda A. Meester-Smoor,Jaakko Kaprio,David A. Mackey...&Caroline C. W. Klaver.(2019).IMI - Myopia Genetics Report.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,60,(3)