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 (

SUBMITTER: Vergara C 

PROVIDER: S-EPMC6497529 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature