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A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
Open accessAbstract
Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye′s ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 × 10−8). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 × 10−9). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1−/− mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.
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Cited by
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-citationIMI – 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
A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
Liu, F., van der Lijn, F., Schurmann, C., Zhu, G., Chakravarty, M. M., Hysi, P. G., Wollstein, A., Lao, O., de Bruijne, M., Ikram, M. A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002932 · Cited by 326
Self-citationTedja, 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 (2019) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.18-25965 · Cited by 304
Self-citationA Review of Current Concepts of the Etiology and Treatment of Myopia
Cooper, J., & Tkatchenko, A. V. (2018) · Eye & Contact Lens: Science & Clinical Practice · doi:10.1097/icl.0000000000000499 · Cited by 293
Metadata
- Authors
- 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., Ikram, M. K., Fai, L. Y., Sham, P. C., Manyes, L., Porteros, A., Lopes, M. C., Carbonaro, F., Fahy, S. J., Martin, N. G., van Duijn, C. M., Spector, T. D., Rahi, J. S., Santos, E., Klaver, C. C. W., & Hammond, C. J.
- Venue
- Nature Genetics
- Published
- 2010-09-12
- Volume
- 42
- Issue
- 10
- Pages
- 902-905
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2025044344
- Cited by
- 219
- References
- 0
- FWCI
- 20.55
- Type
- journal article
- Language
- en
- Open access
- green
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- 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., Ikram, M. K., Fai, L. Y., Sham, P. C., Manyes, L., Porteros, A., Lopes, M. C., Carbonaro, F., Fahy, S. J., Martin, N. G., . . . Hammond, C. J. (2010). A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nature Genetics. https://doi.org/10.1038/ng.664
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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