Association Analysis Of Exome Variants And Refraction Axial Length And Corneal Curvature In A European American Population.

摘要

Refractive errors, myopia and hyperopia are a common visual disorders greatly affecting older individuals. Refraction is determined by genetic factors but only a small percentages of its variation has been explained. We performed a genetic association analysis with three ocular phenotypes: 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 ten-fold via imputation, we confirmed associations for two previously known loci with corneal curvature (chr4q12, rs2114039; g.55092626T>C, β = −0.03 (95% 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 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.