Published in
Association for Research in Vision and Ophthalmology, Investigative Ophthalmology & Visual Science, 3(54), p. 1715
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Coordinated genetic scaling of the human eye: Shared determination of axial eye length and corneal curvature
,
Xin Zhou,
David M. Evans,
Nicholas J. Timpson ,
George McMahon,
John P. Kemp,
J. P. Kemp3,
B. S. Pourcain,
Beate St Pourcain ,
Kate Northstone,
Susan M. Ring,
Qiao Fan,
Tien-Yin Wong,
Ching Yu Cheng ,
Chiea Chuen Khor
and other authors.
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Abstract
Purpose. 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