@article{373763a2f8e24f18be8be90735b9e191,
title = "Association analysis of exome variants and refraction, axial length, and corneal curvature in a European–American population",
abstract = "Refractive errors, myopia, and hyperopia are common visual disorders greatly affecting older individuals. Refraction is determined by genetic factors but only a small percentage of its variation has been explained. We performed a genetic association analysis with three ocular phenotypes: spherical equivalent (a continous measure of refraction), axial length, and corneal curvature in 1,871 European–Americans from the Beaver Dam Eye Study. Individuals were genotyped on the Illumina exome array and imputed to the Haplotype Reference Consortium reference panel. After increasing the number of analyzed variants in targeted protein-coding regions 10-fold via imputation, we confirmed associations for two previously known loci with corneal curvature (chr4q12, rs2114039; g.55092626T > C, β = −0.03 (95% confidence interval [CI]): −0.06, −0.01, P value = 0.01) and spherical equivalent (chr15q14, rs634990; g.35006073T > C, β = −0.27, 95% CI: −0.45, −0.09, P value = 3.79 × 10−3). Despite increased single nucleotide polymorphism (SNP) density, we did not detect any novel significant variants after correction for multiple comparisons. In summary, we confirmed two previous loci associated with corneal curvature and spherical equivalent in a European–American population highlighting the potential biological role of those regions in these traits.",
keywords = "Haplotype Reference Consortium, axial length, corneal curvature, exome array, imputation, refraction, spherical equivalent",
author = "Candelaria Vergara and Bomotti, {Samantha M.} and Cristian Valencia and Klein, {Barbara E.K.} and Lee, {Kristine E.} and Ronald Klein and Klein, {Alison P.} and Priya Duggal",
note = "Funding Information: Research reported in this publication was supported by the National Eye Institute of the National Institutes of Health under grant award numbers R01EY021531, U10006594 and 1T32EI022303; and by the Research to Prevent Blindness Unrestricted Grant to the Department of Ophthalmology and Visual Sciences, University of Wisconsin. We acknowledge the editorial contributions of Nicole Thornton. The authors are grateful to the study participants and thank the staff and investigators of the Beaver Dam Eye Study. Funding Information: Research reported in this publication was supported by the National Funding Information: National Eye Institute, Grant/Award Numbers: 1T32EI022303, R01EY021531, U10006594; Research to Prevent Blindness, Grant/Award Number: Unrestricted Grant to the University of Wisconsin ∗Candelaria Vergara and Samantha M. Bomotti contributed equally to this work. Funding Information: Eye Institute of the National Institutes of Health under grant award numbers R01EY021531, U10006594 and 1T32EI022303; and by the Research to Prevent Blindness Unrestricted Grant to the Department of Ophthalmology and Visual Sciences, University of Wisconsin. We acknowledge the editorial contributions of Nicole Thornton. The authors are grateful to the study participants and thank the staff and investigators of the Beaver Dam Eye Study. Publisher Copyright: {\textcopyright} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = dec,
doi = "10.1002/humu.23628",
language = "English (US)",
volume = "39",
pages = "1973--1979",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "12",
}