Please use this identifier to cite or link to this item: https://doi.org/10.1167/iovs.12-10560
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dc.titleCoordinated genetic scaling of the human eye: Shared determination of axial eye length and corneal curvature
dc.contributor.authorGuggenheim, J.A.
dc.contributor.authorZhou, X.
dc.contributor.authorEvans, D.M.
dc.contributor.authorTimpson, N.J.
dc.contributor.authorMcMahon, G.
dc.contributor.authorKemp, J.P.
dc.contributor.authorPourcain, B.S.
dc.contributor.authorNorthstone, K.
dc.contributor.authorRing, S.M.
dc.contributor.authorFan, Q.
dc.contributor.authorWong, T.-Y.
dc.contributor.authorCheng, C.Y.
dc.contributor.authorKhor, C.C.
dc.contributor.authorAung, T.
dc.contributor.authorSaw, S.M.
dc.contributor.authorWilliams, C.
dc.date.accessioned2014-11-26T05:02:40Z
dc.date.available2014-11-26T05:02:40Z
dc.date.issued2013
dc.identifier.citationGuggenheim, 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., Wong, T.-Y., Cheng, C.Y., Khor, C.C., Aung, T., Saw, S.M., Williams, C. (2013). Coordinated genetic scaling of the human eye: Shared determination of axial eye length and corneal curvature. Investigative Ophthalmology and Visual Science 54 (3) : 1715-1721. ScholarBank@NUS Repository. https://doi.org/10.1167/iovs.12-10560
dc.identifier.issn01460404
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/108900
dc.description.abstractPurpose. To examine the extent to which the two major determinants of refractive error, corneal curvature and axial length, are scaled relative to one another by shared genetic variants, along with their relationship to the genetic scaling of height. Methods. Corneal curvature, axial length, and height were measured in unrelated 14- to 17-year-old white European participants of the Avon Longitudinal Study of Parents and Children (ALSPAC; n = 1915) and in unrelated 40- to 80-year-old participants of the Singapore Chinese Eye Study (SCES; n = 1642). Univariate and bivariate heritability analyses were performed with methods that avoid confounding by common family environment, using information solely from genome-wide high-density genotypes. Results. In ALSPAC subjects, axial length, corneal curvature, and height had similar lower-bound heritability estimates: axial length, h2 = 0.46 (SE = 0.16, P = 0.002); corneal curvature, h2 = 0.42 (SE = 0.16, P = 0.004); height, h2 = 0.48 (SE = 0.17, P = 0.002). The corresponding estimates in the SCES were 0.79 (SE = 0.18, P < 0.001), 0.35 (SE = 0.20, P = 0.036), and 0.31 (SE = 0.20, P = 0.061), respectively. The genetic correlation between corneal curvature and axial length was 0.69 (SE = 0.17, P = 0.019) for ALSPAC participants and 0.64 (SE = 0.22, P = 0.003) for SCES participants. In the subset of 1478 emmetropic ALSPAC individuals, the genetic correlation was 0.85 (SE = 0.12, P = 0.008). Conclusions. These results imply that coordinated scaling of ocular component dimensions is largely achieved by hundreds to thousands of common genetic variants, each with a small pleiotropic effect. Furthermore, genome-wide association studies (GWAS) for either axial length or corneal curvature are likely to identify variants controlling overall eye size when using discovery cohorts dominated by emmetropes, but trait-specific variants in discovery cohorts dominated by ametropes. © 2013 The Association for Research in Vision and Ophthalmology, Inc.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1167/iovs.12-10560
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentSAW SWEE HOCK SCHOOL OF PUBLIC HEALTH
dc.contributor.departmentOPHTHALMOLOGY
dc.description.doi10.1167/iovs.12-10560
dc.description.sourcetitleInvestigative Ophthalmology and Visual Science
dc.description.volume54
dc.description.issue3
dc.description.page1715-1721
dc.description.codenIOVSD
dc.identifier.isiut000316942400021
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