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IMI – Myopia Genetics Report

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Tedja, Milly S., Haarman, Annechien E. G., Meester-Smoor, Magda A., Kaprio, Jaakko, Mackey, David A., Guggenheim, Jeremy A., Hammond, Christopher J., Verhoeven, Virginie J. M., Klaver, Caroline C. W., for the CREAM Consortium·2019·Investigative Opthalmology & Visual Science

DOI 10.1167/iovs.18-25965

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Abstract

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.

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An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
The National Center for Biotechnology Information
Benson, D., Boguski, M., Lipman, D. J., & Ostell, J. (1990) · Genomics · doi:10.1016/0888-7543(90)90583-g · Cited by 5,126
Myopia
Morgan, I. G., Ohno-Matsui, K., & Saw, S.-M. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60272-4 · Cited by 1,871
Replication validity of genetic association studies
Ioannidis, J. P. A., Ntzani, E. E., Trikalinos, T. A., & Contopoulos-Ioannidis, D. G. (2001) · Nature Genetics · doi:10.1038/ng749 · Cited by 1,832
Mendelian randomization: prospects, potentials, and limitations
Smith, G. D. (2004) · International Journal of Epidemiology · doi:10.1093/ije/dyh132 · Cited by 1,222
Online Mendelian Inheritance In Man (OMIM)
Hamosh, A., Scott, A. F., Amberger, J., Valle, D., & McKusick, V. A. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<57::aid-humu12>3.0.co;2-g · Cited by 1,156
Detection and interpretation of shared genetic influences on 42 human traits
Pickrell, J. K., Berisa, T., Liu, J. Z., Ségurel, L., Tung, J. Y., & Hinds, D. A. (2016) · Nature Genetics · doi:10.1038/ng.3570 · Cited by 1,151
The myopia boom
Dolgin, E. (2015) · Nature · doi:10.1038/519276a · Cited by 967
Increased Prevalence of Myopia in the United States Between 1971-1972 and 1999-2004
Vitale, S. (2009) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2009.303 · Cited by 906
HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration
DeWan, A., Liu, M., Hartman, S., Zhang, S. S.-M., Liu, D. T. L., Zhao, C., Tam, P. O. S., Chan, W. M., Lam, D. S. C., Snyder, M., et al. (2006) · Science · doi:10.1126/science.1133807 · Cited by 876
Epigenetics: Definition, Mechanisms and Clinical Perspective
Dupont, C., Armant, D., & Brenner, C. (2009) · Seminars in Reproductive Medicine · doi:10.1055/s-0029-1237423 · Cited by 799
Biological interpretation of genome-wide association studies using predicted gene functions
Pers, T. H., Karjalainen, J. M., Chan, Y., Westra, H.-J., Wood, A. R., Yang, J., Lui, J. C., Vedantam, S., Gustafsson, S., Esko, T., et al. (2015) · Nature Communications · doi:10.1038/ncomms6890 · Cited by 787
Estimation of effect size distribution from genome-wide association studies and implications for future discoveries
Park, J.-H., Wacholder, S., Gail, M. H., Peters, U., Jacobs, K. B., Chanock, S. J., & Chatterjee, N. (2010) · Nature Genetics · doi:10.1038/ng.610 · Cited by 678
How genetic is school myopia?
Morgan, I., & Rose, K. (2005) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2004.06.004 · Cited by 661
Genetic association studies
Cordell, H. J., & Clayton, D. G. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67424-7 · Cited by 582
Increasing Prevalence of Myopia in Europe and the Impact of Education
Williams, K. M., Bertelsen, G., Cumberland, P., Wolfram, C., Verhoeven, V. J. M., Anastasopoulos, E., Buitendijk, G. H. S., Cougnard-Grégoire, A., Creuzot-Garcher, C., Erke, M. G., et al. (2015) · Ophthalmology · doi:10.1016/j.ophtha.2015.03.018 · Cited by 496
Self-citation
IMI – Report on Experimental Models of Emmetropization and Myopia
Troilo, D., Smith, E. L., Nickla, D. L., Ashby, R., Tkatchenko, A. V., Ostrin, L. A., Gawne, T. J., Pardue, M. T., Summers, J. A., Kee, C.-S., et al. (2019) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.18-25967 · Cited by 487
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Consortium for Refractive Error and Myopia (CREAM), Verhoeven, V. J. M., The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group, Wellcome Trust Case Control Consortium 2 (WTCCC2), The Fuchs' Genetics Multi-Center Study Group, Hysi, P. G., Wojciechowski, R., Fan, Q., Guggenheim, J. A., Höhn, R., et al. (2013) · Nature Genetics · doi:10.1038/ng.2554 · Cited by 487
Self-citation
Genes and environment in refractive error: the twin eye study.
Hammond, C. J., Snieder, H., Gilbert, C. E., & Spector, T. D. (2001) · PubMed · Cited by 456
Self-citation
Mendelian randomization: can genetic epidemiology help redress the failures of observational epidemiology?
Ebrahim, S., & Davey Smith, G. (2008) · Human Genetics · doi:10.1007/s00439-007-0448-6 · Cited by 410
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
The CREAM Consortium, Tedja, M. S., 23andMe Research Team, UK Biobank Eye and Vision Consortium, Wojciechowski, R., Hysi, P. G., Eriksson, N., Furlotte, N. A., Verhoeven, V. J. M., Iglesias, A. I., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0127-7 · Cited by 355
Self-citation
Nature and nurture: the complex genetics of myopia and refractive error
Wojciechowski, R. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01592.x · Cited by 325
Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia
Kiefer, A. K., Tung, J. Y., Do, C. B., Hinds, D. A., Mountain, J. L., Francke, U., & Eriksson, N. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003299 · Cited by 312
Education and myopia: assessing the direction of causality by mendelian randomisation
Mountjoy, E., Davies, N. M., Plotnikov, D., Smith, G. D., Rodriguez, S., Williams, C. E., Guggenheim, J. A., & Atan, D. (2018) · BMJ · doi:10.1136/bmj.k2022 · Cited by 299
Self-citation
The importance of genes and environment for ocular refraction and its determiners: a population based study among 20-45 year old twins
Lyhne, N. (2001) · British Journal of Ophthalmology · doi:10.1136/bjo.85.12.1470 · Cited by 287
Genetic linkage studies
Dawn Teare, M., & Barrett, J. H. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67382-5 · Cited by 271
A Second Locus for Familial High Myopia Maps to Chromosome 12q
Young, T. L., Ronan, S. M., Alvear, A. B., Wildenberg, S. C., Oetting, W. S., Atwood, L. D., Wilkin, D. J., & King, R. A. (1998) · The American Journal of Human Genetics · doi:10.1086/302111 · Cited by 261
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
Hysi, P. G., Young, T. L., Mackey, D. A., Andrew, T., Fernández-Medarde, A., Solouki, A. M., Hewitt, A. W., Macgregor, S., Vingerling, J. R., Li, Y.-J., et al. (2010) · Nature Genetics · doi:10.1038/ng.664 · Cited by 219
Self-citation
Heritability of Refractive Error and Ocular Biometrics: The Genes in Myopia (GEM) Twin Study
Dirani, M., Chamberlain, M., Shekar, S. N., Islam, A. F. M., Garoufalis, P., Chen, C. Y., Guymer, R. H., & Baird, P. N. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.06-0270 · Cited by 218
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14
Solouki, A. M., Verhoeven, V. J. M., van Duijn, C. M., Verkerk, A. J. M. H., Ikram, M. K., Hysi, P. G., Despriet, D. D. G., van Koolwijk, L. M., Ho, L., Ramdas, W. D., et al. (2010) · Nature Genetics · doi:10.1038/ng.663 · Cited by 218
Self-citation
A Susceptibility Locus for Myopia in the Normal Population Is Linked to the PAX6 Gene Region on Chromosome 11: A Genomewide Scan of Dizygotic Twins
Hammond, C. J., Andrew, T., Tat Mak, Y., & Spector, T. D. (2004) · The American Journal of Human Genetics · doi:10.1086/423148 · Cited by 202
Self-citation
Exome Sequencing Identifies ZNF644 Mutations in High Myopia
Shi, Y., Li, Y., Zhang, D., Zhang, H., Li, Y., Lu, F., Liu, X., He, F., Gong, B., Cai, L., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002084 · Cited by 195
THE TRANSMISSION OF REFRACTIVE ERRORS WITHIN ESKIMO FAMILIES
Young, F. A., Leary, G. A., Baldwin, W. R., West, D. C., Box, R. A., Harris, E., & Johnson, C. (1969) · Optometry and Vision Science · doi:10.1097/00006324-196909000-00005 · Cited by 187
Myopia and Level of Education
Mirshahi, A., Ponto, K. A., Hoehn, R., Zwiener, I., Zeller, T., Lackner, K., Beutel, M. E., & Pfeiffer, N. (2014) · Ophthalmology · doi:10.1016/j.ophtha.2014.04.017 · Cited by 183
The pursuit of genome-wide association studies: where are we now?
Ku, C. S., Loy, E. Y., Pawitan, Y., & Chia, K. S. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.19 · Cited by 180
The Heritability of Ocular Traits
Sanfilippo, P. G., Hewitt, A. W., Hammond, C. J., & Mackey, D. A. (2010) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2010.07.003 · Cited by 173
Self-citation
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Cheng, C.-Y., Schache, M., Ikram, M. K., Young, T. L., Guggenheim, J. A., Vitart, V., MacGregor, S., Verhoeven, V. J. M., Barathi, V. A., Liao, J., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.016 · Cited by 160
Self-citation
Myopia and international educational performance
Morgan, I. G., & Rose, K. A. (2013) · Ophthalmic and Physiological Optics · doi:10.1111/opo.12040 · Cited by 159
A Genome-Wide Association Analysis Identified a Novel Susceptible Locus for Pathological Myopia at 11q24.1
Nakanishi, H., Yamada, R., Gotoh, N., Hayashi, H., Yamashiro, K., Shimada, N., Ohno‐Matsui, K., Mochizuki, M., Saito, M., Iida, T., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000660 · Cited by 158
Estimating Heritability and Shared Environmental Effects for Refractive Error in Twin and Family Studies
Lopes, M. C., Andrew, T., Carbonaro, F., Spector, T. D., & Hammond, C. J. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-2385 · Cited by 153
Self-citation
A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36
Naiglin, L., Gazagne, C., Dallongeville, F., Thalamas, C., Idder, A., Rascol, O., Malecaze, F., & Calvas, P. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.2.118 · Cited by 150
Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error
Fan, Q., Verhoeven, V. J. M., Wojciechowski, R., Barathi, V. A., Hysi, P. G., Guggenheim, J. A., Höhn, R., Vitart, V., Khawaja, A. P., Yamashiro, K., et al. (2016) · Nature Communications · doi:10.1038/ncomms11008 · Cited by 141
Self-citation
Myopia genetics: a review of current research and emerging trends
Hornbeak, D. M., & Young, T. L. (2009) · Current Opinion in Ophthalmology · doi:10.1097/icu.0b013e32832f8040 · Cited by 136
Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12
Stambolian, D. E., Ibay, G. P., Reider, L., Dana, D., Moy, C., Schlifka, M., Holmes, T. N., Ciner, E. B., & Wilson, J. (2004) · The American Journal of Human Genetics · doi:10.1086/423789 · Cited by 136
Genome-Wide Association Studies Reveal Genetic Variants in CTNND2 for High Myopia in Singapore Chinese
Li, Y., Goh, L. K., Khor, C. C., Fan, Q., Yu, M., Han, S., Sim, X., Ong, R. T., Wong, T. Y., Vithana, E. N., et al. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2010.06.016 · Cited by 133
Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population
Shi, Y., Qu, J., Zhang, D., Zhao, P., Zhang, Q., Tam, P. O. S., Sun, L., Zuo, X., Zhou, X., Xiao, X., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.022 · Cited by 121
Blood Levels of Vitamin D in Teens and Young Adults with Myopia
Mutti, D. O., & Marks, A. R. (2011) · Optometry and Vision Science · doi:10.1097/opx.0b013e31820b0385 · Cited by 120
Low serum vitamin D is associated with axial length and risk of myopia in young children
Tideman, J. W. L., Polling, J. R., Voortman, T., Jaddoe, V. W. V., Uitterlinden, A. G., Albert Hofman, D., Vingerling, J. R., Franco, O. H., & Klaver, C. C. W. (2016) · European Journal of Epidemiology · doi:10.1007/s10654-016-0128-8 · Cited by 120
Self-citation
Genetic Variants on Chromosome 1q41 Influence Ocular Axial Length and High Myopia
Fan, Q., Barathi, V. A., Cheng, C., Zhou, X., Meguro, A., Nakata, I., Khor, C. C., Goh, L.-K., Li, Y., Lim, W., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002753 · Cited by 119
Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing
Jiang, D., Li, J., Xiao, X., Li, S., Jia, X., Sun, W., Guo, X., & Zhang, Q. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14850 · Cited by 117
The heritability of high myopia: a reanalysis of Goldschmidt's data
Guggenheim, J. A., KIROV, G., & HODSON, S. A. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.3.227 · Cited by 116
Self-citation
Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia
Tran-Viet, K.-N., Powell, C., Barathi, V. A., Klemm, T., Maurer‐Stroh, S., Limviphuvadh, V., Soler, V. J., Ho, C. E. H., Yanovitch, T. L., Schneider, G., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.005 · Cited by 115
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium
Fan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., Pourcain, B. S., Evans, D. M., Timpson, N. J., et al. (2016) · Scientific Reports · doi:10.1038/srep25853 · Cited by 113
Self-citation
Mutations in LRPAP1 Are Associated with Severe Myopia in Humans
Aldahmesh, M. A., Khan, A. O., Alkuraya, H., Adly, N., Anazi, S., Al-Saleh, A. A., Mohamed, J. Y., Hijazi, H., Prabakaran, S., Tacke, M., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.002 · Cited by 105
APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans
Tkatchenko, A. V., Tkatchenko, T. V., Guggenheim, J. A., Verhoeven, V. J. M., Hysi, P. G., Wojciechowski, R., Singh, P. K., Kumar, A., Thinakaran, G., & Williams, C. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005432 · Cited by 102
Self-citation
SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia
Guo, H., Jin, X., Zhu, T., Wang, T., Tong, P., Tian, L., Peng, Y., Sun, L., Wan, A., Chen, J., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102351 · Cited by 102
Trio-based exome sequencing arrests de novo mutations in early-onset high myopia
Jin, Z., Wu, J., Huang, X., Feng, C.-Y., Cai, X., Mao, J.-Y., Xiang, L., Wu, K., Xiao, X., Kloss, B. A. V., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1615970114 · Cited by 102
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes
Sun, W., Huang, L., Xu, Y., Xiao, X., Li, S., Jia, X., Gao, B., Wang, P., Guo, X., & Zhang, Q. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-17555 · Cited by 101
Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?
Hendriks, M., Verhoeven, V. J. M., Buitendijk, G. H. S., Polling, J. R., Meester‐Smoor, M. A., Albert Hofman, D., van Huet, R. A. C., Klevering, B. J., Bax, N. M., Lambertus, S., et al. (2017) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2017.07.008 · Cited by 97
Self-citation
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.
Nallasamy, S., Paluru, P. C., Devoto, M., et al. (2007) · PubMed · Cited by 96
Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia
Miyake, M., Yamashiro, K., Tabara, Y., Suda, K., Morooka, S., Nakanishi, H., Khor, C. C., Chen, P., Qiao, F., Nakata, I., et al. (2015) · Nature Communications · doi:10.1038/ncomms7689 · Cited by 94
Self-citation
The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors
Baird, P. N., Schäche, M., & Dirani, M. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.05.004 · Cited by 87
A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population
Li, Z., Qu, J., Xu, X., Zhou, X., Zou, H., Wang, N., Li, T., Hu, X., Zhao, Q., Chen, P., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr169 · Cited by 87
Exome sequencing reveals CCDC111 mutation associated with high myopia
Zhao, F., Wu, J., Xue, A., Su, Y., Wang, X., Xian-min, L., Zhou, Z., Qu, J., & Zhou, X. (2013) · Human Genetics · doi:10.1007/s00439-013-1303-6 · Cited by 86
Genome-Wide Association Studies of Refractive Error and Myopia, Lessons Learned, and Implications for the Future
Hysi, P. G., Wojciechowski, R., Rahi, J. S., & Hammond, C. J. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14149 · Cited by 85
Self-citation
Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study
Cuéllar-Partida, G., Lu, Y., Kho, P. F., Hewitt, A. W., Wichmann, H. ‐., Yazar, S., Stambolian, D. E., Wilson, J., Wojciechowski, R., Wang, J. J., et al. (2015) · Genetic Epidemiology · doi:10.1002/gepi.21936 · Cited by 82
Self-citation
MicroRNA-328 May Influence Myopia Development by Mediating the PAX6 Gene
Chen, K., Hsi, E., Hu, C.-Y., Chou, W., Liang, C.-L., & Juo, S. H. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-9272 · Cited by 82
TGFβ-Induced Factor: A Candidate Gene for High Myopia
Lam, D. S. C., Lee, W. S., Leung, Y. F., Tam, P. O. S., Fan, D. S. P., Fan, B., & Pang, C. P. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0058 · Cited by 81
A Genome-wide Scan Maps a Novel High Myopia Locus to 5p15
Lam, C. Y., Tam, P. O. S., Fan, D. S. P., Fan, B., Wang, D. Y., Lee, C. W. S., Pang, C. P., & Lam, D. S. C. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-1126 · Cited by 79
Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia
Khor, C. C., Miyake, M., Chen, L. J., Shi, Y., Barathi, V. A., Qiao, F., Nakata, I., Yamashiro, K., Zhou, X., Tam, P. O. S., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt385 · Cited by 79
Mutational Analysis of MIR184 in Sporadic Keratoconus and Myopia
Lechner, J., Bae, H. A., Guduric-Fuchs, J., Rice, A., Govindarajan, G., Siddiqui, S., Abi Farraj, L., Yip, S. P., Yap, M., Das, M., et al. (2013) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.13-12035 · Cited by 78 · cited 2×
“Lechner et al. 149,150 sequenced miR-184 in 96 unrelated Han southern Chinese patients with axial myopia, but no mutations were detected.”
Background
Focusing In on the Complex Genetics of Myopia
Wojciechowski, R., & Hysi, P. G. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003442 · Cited by 77
A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population
Shi, Y., Gong, B., Chen, L., Zuo, X., Liu, X., Tam, P., Zhou, X., Zhao, P., Lu, F., Qu, J., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt066 · Cited by 77
Family-Based Association Analysis of Hepatocyte Growth Factor ( HGF ) Gene Polymorphisms in High Myopia
Han, W., Yap, M. K. H., Wang, J., & Yip, S. P. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1344 · Cited by 76
Candidate gene and locus analysis of myopia.
Mutti, D. O., Cooper, M. E., O’Brien, S., Jones, L. A., Marazita, M. L., Murray, J. C., & Zadnik, K. (2007) · PubMed Central · Cited by 75
X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.
Xiao, X., Li, S., Jia, X., Guo, X., & Zhang, Q. (2016) · PubMed Central · Cited by 74
Heritability of Refractive Error and Familial Aggregation of Myopia in an Elderly American Population
Wojciechowski, R., Congdon, N. G., Bowie, H., Muñoz, B. E., Gilbert, D. L., & West, S. K. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.04-0740 · Cited by 73
Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort
Metlapally, R., Ki, C., Li, Y., Tran-Viet, K.-N., Abbott, D., Malecaze, F., Calvas, P., Mackey, D. A., Rosenberg, T., Paget, S., et al. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4912 · Cited by 72
Self-citation
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium
Verhoeven, V. J. M., Hysi, P. G., Saw, S., et al. (2012) · Human Genetics · doi:10.1007/s00439-012-1176-0 · Cited by 72
Self-citation
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Andrew, T., Maniatis, N., Carbonaro, F., Liew, S. H. M., Lau, W., Spector, T. D., & Hammond, C. J. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000220 · Cited by 72
Self-citation
High heritability of myopia does not preclude rapid changes in prevalence
Rose, K. A., Morgan, I. G., Smith, W. T., & Mitchell, P. (2002) · Clinical and Experimental Ophthalmology · doi:10.1046/j.1442-9071.2002.00521.x · Cited by 71
Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia
Flitcroft, I., Loughman, J., Wildsoet, C. F., Williams, C., & Guggenheim, J. A. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-22173 · Cited by 70
Self-citation
Insight into the molecular genetics of myopia.
Li, J., & Zhang, Q. (2017) · PubMed Central · Cited by 69
Mendelian randomisation applied to drug development in cardiovascular disease: a review
Mokry, L. E., Ahmad, O. S., Forgetta, V., Thanassoulis, G., & Richards, J. B. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102438 · Cited by 68
Heritability estimate for refractive errors—a population‐based sample of adult twins
Teikari, J. M., Kaprio, J. A., Koskenvuo, M. K., Vannas, A. E., & Rao, D. C. (1988) · Genetic Epidemiology · doi:10.1002/gepi.1370050304 · Cited by 64
Self-citation
A Functional Polymorphism at 3′UTR of the PAX6 Gene May Confer Risk for Extreme Myopia in the Chinese
Liang, C.-L., Hsi, E., Chen, K., Pan, Y.-R., Wang, Y., & Juo, S. H. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-5859 · Cited by 64
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error
Stambolian, D. E., Wojciechowski, R., Oexle, K., Pirastu, M., Li, X., Raffel, L. J., Cotch, M. F., Chew, E. Y., Klein, B. E. K., Klein, R., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt116 · Cited by 63
Self-citation
The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan.
Wang, I., Chiang, T., Shih, Y., Hsiao, C. K., Lu, S., Hou, Y.-C., & Lin, L. L.-K. (2006) · PubMed · Cited by 61
CCDC102B confers risk of low vision and blindness in high myopia
Hosoda, Y., Yoshikawa, M., Miyake, M., Tabara, Y., Shimada, N., Zhao, W., Oishi, A., Nakanishi, H., Hata, M., Akagi, T., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03649-3 · Cited by 60
Association of PAX6 Polymorphisms with High Myopia in Han Chinese Nuclear Families
Han, W., Leung, K. H., Fung, W. Y., Mak, J. Y., Li, Y. M., Yap, M. K. H., & Yip, S. P. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0813 · Cited by 59
Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore
Han, S., Chen, P., Fan, Q., Khor, C. C., Sim, X., Tay, W.-T., Ong, R. T., Suo, C., Goh, L.-K., Lavanya, R., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr269 · Cited by 57
Comprehensive Replication of the Relationship Between Myopia-Related Genes and Refractive Errors in a Large Japanese Cohort
Yoshikawa, M., Yamashiro, K., Miyake, M., Oishi, M., Akagi-Kurashige, Y., Kumagai, K., Nakata, I., Nakanishi, H., Oishi, A., Gotoh, N., et al. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-15105 · Cited by 57
Genetic susceptibility and mechanisms for refractive error
Stambolian, D. E. (2013) · Clinical Genetics · doi:10.1111/cge.12180 · Cited by 54
A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population
Meng, W., Butterworth, J. A., Bradley, D., Hughes, A. E., Soler, V. J., Calvas, P., & Malecaze, F. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10409 · Cited by 54
TGFB1 as a Susceptibility Gene for High Myopia: A Replication Study With New Findings
Zha, Y., Leung, K. H., Lo, K. K., Fung, W. Y., Ng, P. W., Shi, M., Yap, M. K. H., & Yip, S. P. (2009) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2008.623 · Cited by 54
Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population.
Tang, W. C., Yip, S. P., Lo, K. K., Ng, P. W., Choi, P. S., Lee, S. Y., & Yap, M. K. H. (2007) · PubMed Central · Cited by 54
Assumption-free estimation of the genetic contribution to refractive error across childhood.
Guggenheim, J. A., Pourcain, B. S., McMahon, G., Timpson, N. J., Evans, D. M., & Williams, C. (2015) · PubMed · Cited by 53
Self-citation
Heritability of Myopia and Ocular Biometrics in Koreans: The Healthy Twin Study
Kim, M. H., Zhao, D., Kim, W., Lim, D.-H., Song, Y., Güallar, E., Cho, J., Sung, J., Chung, E., & Chung, T.-Y. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-11254 · Cited by 52
Heritability and Familial Aggregation of Refractive Error in the Old Order Amish
Peet, J. A., Cotch, M. F., Wojciechowski, R., Wilson, J., & Stambolian, D. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-1388 · Cited by 49
Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models
Hawthorne, F. A., & Young, T. L. (2013) · Experimental Eye Research · doi:10.1016/j.exer.2012.12.015 · Cited by 48
PAX6 Gene Associated with High Myopia
Tang, S. M., Rong, S. S., Young, A. L., Tam, P. O. S., Pang, C. P., & Chen, L. J. (2014) · Optometry and Vision Science · doi:10.1097/opx.0000000000000224 · Cited by 47
Matrix Metalloproteinases and Educational Attainment in Refractive Error
Wojciechowski, R., Yee, S. S., Simpson, C. L., Wilson, J., & Stambolian, D. (2012) · Ophthalmology · doi:10.1016/j.ophtha.2012.07.078 · Cited by 46
Experimental murine myopia induces collagen type Iα1 (COL1A1) DNA methylation and altered COL1A1 messenger RNA expression in sclera.
Zhou, X., Ji, F., An, J., Zhao, F., Shi, F., Huang, F., Li, Y., Jiao, S., Yan, D., Chen, X., et al. (2012) · PubMed Central · Cited by 46
Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci
Simpson, C. L., Wojciechowski, R., Oexle, K., Murgia, F., Portas, L., Li, X., Verhoeven, V. J. M., Vitart, V., Schäche, M., Hosseini, S. M., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0107110 · Cited by 43
Self-citation
Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.
Li, J., Gao, B., Xiao, X., Li, S., Jia, X., Sun, W., Guo, X., & Zhang, Q. (2016) · PubMed Central · Cited by 43
A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans.
Guggenheim, J. A., McMahon, G., Kemp, J. P., Akhtar, S., Pourcain, B. S., Northstone, K., Ring, S. M., Evans, D. M., Smith, G. D., Timpson, N. J., et al. (2013) · Europe PMC (PubMed Central) · Cited by 42
Self-citation
The association between lumican gene polymorphisms and high myopia
Lin, H.-J., Wan, L., Tsai, Y., Chen, W. C., Tsai, S.-W., & Tsai, F.-J. (2009) · Eye · doi:10.1038/eye.2009.254 · Cited by 41
Genetic Variants near PDGFRA Are Associated with Corneal Curvature in Australians
Mishra, A., Yazar, S., Hewitt, A. W., Mountain, J. A., Ang, W., Pennell, C. E., Martin, N. G., Montgomery, G. W., Hammond, C. J., Young, T. L., et al. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10489 · Cited by 40
Self-citation
A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia
Wang, B., Liu, Y., Chen, S., Wu, Y., Lin, S., Duan, Y., Zheng, K., Zhang, L., Gu, X., Hong, W., et al. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-20941 · Cited by 39
Coordinated Genetic Scaling of the Human Eye: Shared Determination of Axial Eye Length and Corneal Curvature
Guggenheim, J. A., Zhou, X., Evans, D. M., Timpson, N. J., McMahon, G., Kemp, J. P., Pourcain, B. S., Northstone, K., Ring, S. M., Fan, Q., et al. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10560 · Cited by 37
Self-citation
Association of High Myopia with Crystallin Beta A4 (CRYBA4) Gene Polymorphisms in the Linkage-Identified MYP6 Locus
Ho, D. W., Yap, M. K. H., Ng, P. W., Fung, W. Y., & Yip, S. P. (2012) · PLoS ONE · doi:10.1371/journal.pone.0040238 · Cited by 37
Association of Matrix Metalloproteinase Gene Polymorphisms with Refractive Error in Amish and Ashkenazi Families
Wojciechowski, R., Wilson, J., & Stambolian, D. E. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-5474 · Cited by 36
A novel genetic variant of BMP2K contributes to high myopia
Liu, H., Lin, Y., Lin, W., Wan, L., Sheu, J. J., Lin, H., Tsai, Y., Tsai, C., & Tsai, F. (2009) · Journal of Clinical Laboratory Analysis · doi:10.1002/jcla.20344 · Cited by 35
Bridging epigenomics and complex disease: the basics
Teperino, R., Lempradl, A. M., & Pospisilik, J. A. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1299-z · Cited by 33
Genome-wide Scan of African-American and White Families for Linkage to Myopia
Ciner, E. B., Ibay, G. P., Wojciechowski, R., Dana, D., Holmes, T. N., Wilson, J., & Stambolian, D. E. (2008) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2008.09.004 · Cited by 32
The role of microRNAs in myopia
Jiang, B., Huo, Y., Gu, Y., & Wang, J. (2016) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-016-3532-6 · Cited by 32
Muscarinic Acetylcholine Receptor 3 Is Dominant in Myopia Progression
Lin, H.-J., Wan, L., Chen, W., Lin, J.-M., Lin, C.-J., & Tsai, F. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-9031 · Cited by 30
Common Mechanisms Underlying Refractive Error Identified in Functional Analysis of Gene Lists From Genome-Wide Association Study Results in 2 European British Cohorts
Hysi, P. G., Mahroo, O. A., Cumberland, P. M., Wojciechowski, R., Williams, K. M., Young, T. L., Mackey, D. A., Rahi, J. S., & Hammond, C. J. (2013) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2013.6022 · Cited by 29
Self-citation
Autosomal‐dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation
Napolitano, F., Iorio, V. D., Testa, F., Tirozzi, A., Reccia, M. G., Lombardi, L., Farina, O., Simonelli, F., Gianfrancesco, F., Iorio, G. D., et al. (2018) · Clinical Genetics · doi:10.1111/cge.13217 · Cited by 29
CMPK1 and RBP3 are associated with corneal curvature in Asian populations
Chen, P., Miyake, M., Fan, Q., Liao, J., Yamashiro, K., Ikram, M. K., Chew, M., Vithana, E. N., Khor, C. C., Aung, T., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu322 · Cited by 28
Exome Sequence Analysis of 14 Families With High Myopia
Kloss, B. A. V., Tompson, S. W. J., Whisenhunt, K. N., Quow, K., Huang, S. J., Pavelec, D. M., Rosenberg, T., & Young, T. L. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-20883 · Cited by 23
Genetic Association Study of KCNQ5 Polymorphisms with High Myopia
Liao, X., Yap, M. K. H., Leung, K. H., et al. (2017) · BioMed Research International · doi:10.1155/2017/3024156 · Cited by 23
Association of paired box 6 with high myopia in Japanese.
Miyake, M., Yamashiro, K., Nakanishi, H., Nakata, I., Akagi-Kurashige, Y., Tsujikawa, A., Moriyama, M., Ohno‐Matsui, K., Mochizuki, M., Yamada, R., et al. (2012) · PubMed Central · Cited by 19
Genome-wide association studies: applications and insights gained in Ophthalmology
Chandra, A., Mitry, D., Wright, A. F., Campbell, H. J., & Charteris, D. G. (2014) · Eye · doi:10.1038/eye.2014.145 · Cited by 19
Association of IGF1 polymorphism rs6214 with high myopia: A systematic review and meta-analysis
Zhang, D., Zeng, G., Hu, J., McCormick, K., Shi, Y., & Gong, B. (2017) · Ophthalmic Genetics · doi:10.1080/13816810.2016.1253105 · Cited by 17
Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort.
Simpson, C. L., Wojciechowski, R., Yee, S. S., Soni, P., Wilson, J., & Stambolian, D. (2013) · Europe PMC (PubMed Central) · Cited by 16
Polymorphism in the 11q24.1 genomic region is associated with myopia: a comprehensive genetic study in Chinese and Japanese populations.
Liu, J., & Zhang, H. (2014) · PubMed Central · Cited by 14
Contribution of TGFβ1 Codon 10 Polymorphism to High Myopia in an Ethnic Kashmiri Population from India
Rasool, S., Ahmed, I., Dar, R., Ayub, S. G., Rashid, S., Jan, T., Ahmed, T., Naykoo, N. A., & Andrabi, K. I. (2013) · Biochemical Genetics · doi:10.1007/s10528-012-9565-6 · Cited by 13
RNA expression in human retina
Li, M., Zauhar, R. J., Grazal, C. F., Curcio, C. A., DeAngelis, M. M., & Stambolian, D. E. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx219 · Cited by 13
A twin study on myopia in Chinese school children
Lin, L. L., & Chen, C. (1988) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.1988.tb02662.x · Cited by 11
Correlation between polymorphisms in the MFN1 gene and myopia in Chinese population.
Zou, Y., Lei, J.-H., Wang, Y., & Xu, S. (2015) · Europe PMC (PubMed Central) · doi:10.3980/j.issn.2222-3959.2015.06.08 · Cited by 9

Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia
Tideman, J. W. L., Pärssinen, O., Haarman, A. E. G., Khawaja, A. P., Wedenoja, J., Williams, K. M., Biino, G., Ding, X., Kähönen, M., Lehtimäki, T., et al. (2021) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2021.0497 · Cited by 56
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Authors: Tedja, M. S., Haarman, A. E. G., Meester-Smoor, M. A., Kaprio, J., Mackey, D. A., Guggenheim, J. A., Hammond, C. J., Verhoeven, V. J. M., Klaver, C. C. W., & for the CREAM Consortium
Venue: Investigative Opthalmology & Visual Science
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Published: 2019-02-28
Volume: 60
Issue: 3
Pages: M89
ISSN: 0146-0404 (ISSN-L)
1552-5783
DOI: 10.1167/iovs.18-25965
OpenAlex: W2920012743
Cited by: 304
References: 132
FWCI: 20.53
Type: journal article
Language: en
Open access: gold

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