The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14
Open accessAbstract
Refractive errors are the most common ocular disorders worldwide and may lead to blindness. Although this trait is highly heritable, identification of susceptibility genes has been challenging. We conducted a genome-wide association study for refractive error in 5,328 individuals from a Dutch population-based study with replication in four independent cohorts (combined 10,280 individuals in the replication stage). We identified a significant association at chromosome 15q14 (rs634990, P = 2.21 × 10−14). The odds ratio of myopia compared to hyperopia for the minor allele (minor allele frequency = 0.47) was 1.41 (95% CI 1.16–1.70) for individuals heterozygous for the allele and 1.83 (95% CI 1.42–2.36) for individuals homozygous for the allele. The associated locus is near two genes that are expressed in the retina, GJD2 and ACTC1, and appears to harbor regulatory elements which may influence transcription of these genes. Our data suggest that common variants at 15q14 influence susceptibility for refractive errors in the general population.
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Histone modifications at human enhancers reflect global cell-type-specific gene expression
Heintzman, N. D., Hon, G. C., Hawkins, R. D., Kheradpour, P., Stark, A., Harp, L. F., Ye, Z., Lee, L. K., Stuart, R. K., Ching, C. W., et al. (2009) · Nature · doi:10.1038/nature07829 · Cited by 2,533
GenABEL: an R library for genome-wide association analysis
Aulchenko, Y. S., Ripke, S., Isaacs, A., & van Duijn, C. M. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm108 · Cited by 1,836 · cited 1×
“To adjust for family relationships, the GenABEL packag”
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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
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 (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
The genetics of retinopathy of prematurity: A model for neovascular retinal disease
Swan, R., Kim, S. J., Campbell, J. P., Chan, R. V. P., Sonmez, K., Taylor, K. D., Li, X., Chen, Y.-D. I., Rotter, J. I., Simmons, C., et al. (2018) · Ophthalmology Retina · doi:10.1016/j.oret.2018.01.016 · Cited by 30
Metadata
- Authors
- 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., Czudowska, M., Kuijpers, R. W. A. M., Amin, N., Struchalin, M., Aulchenko, Y. S., van Rij, G., Riemslag, F. C. C., Young, T. L., Mackey, D. A., Spector, T. D., Gorgels, T. G. M. F., Willemse-Assink, J. J. M., Isaacs, A., Kramer, R., Swagemakers, S. M. A., Bergen, A. A. B., van Oosterhout, A. A. L. J., Oostra, B. A., Rivadeneira, F., Uitterlinden, A. G., Hofman, A., de Jong, P. T. V. M., Hammond, C. J., Vingerling, J. R., & Klaver, C. C. W.
- Venue
- Nature Genetics
- Published
- 2010-09-12
- Volume
- 42
- Issue
- 10
- Pages
- 897-901
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2068510973
- Cited by
- 218
- References
- 2
- FWCI
- 18.66
- Type
- journal article
- Language
- en
- Open access
- bronze
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