The DOI matches its Crossref record; 58 of the 58 references it cites were found in a registry or an index.
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma
Open accessAbstract
Glaucoma is the leading cause of irreversible blindness globally1. Despite its gravity, the disease is frequently undiagnosed in the community2. Raised intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG)3,4. Here we present a meta-analysis of 139,555 European participants, which identified 112 genomic loci associated with IOP, 68 of which are novel. These loci suggest a strong role for angiopoietin-receptor tyrosine kinase signaling, lipid metabolism, mitochondrial function and developmental processes underlying risk for elevated IOP. In addition, 48 of these loci were nominally associated with glaucoma in an independent cohort, 14 of which were significant at a Bonferroni-corrected threshold. Regression-based glaucoma-prediction models had an area under the receiver operating characteristic curve (AUROC) of 0.76 in US NEIGHBORHOOD study participants and 0.74 in independent glaucoma cases from the UK Biobank. Genetic-prediction models for POAG offer an opportunity to target screening and timely therapy to individuals most at risk. A meta-analysis of 139,555 Europeans identifies 68 new genomic loci associated with intraocular pressure. Incorporating these new findings into genetic models improves risk prediction for primary open-angle glaucoma.
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Cited by
Jayaram, H., Kolko, M., Friedman, D. S., & Gazzard, G. (2023) · The Lancet · doi:10.1016/s0140-6736(23)01289-8 · Cited by 592
Metadata
- Authors
- UK Biobank Eye and Vision Consortium, Khawaja, A. P., NEIGHBORHOOD Consortium, Cooke Bailey, J. N., Wareham, N. J., Scott, R. A., Simcoe, M., Igo, R. P., Song, Y. E., Wojciechowski, R., Cheng, C.-Y., Khaw, P. T., Pasquale, L. R., Haines, J. L., Foster, P. J., Wiggs, J. L., Hammond, C. J., & Hysi, P. G.
- Venue
- Nature Genetics
- Published
- 2018-05-21
- Volume
- 50
- Issue
- 6
- Pages
- 778-782
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2803323905
- Cited by
- 346
- References
- 58
- FWCI
- 28.92
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- UK Biobank Eye and Vision Consortium, Khawaja, A. P., NEIGHBORHOOD Consortium, Cooke Bailey, J. N., Wareham, N. J., Scott, R. A., Simcoe, M., Igo, R. P., Song, Y. E., Wojciechowski, R., Cheng, C.-Y., Khaw, P. T., Pasquale, L. R., Haines, J. L., Foster, P. J., Wiggs, J. L., Hammond, C. J., & Hysi, P. G. (2018). Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. Nature Genetics. https://doi.org/10.1038/s41588-018-0126-8
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