Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour.

ABSTRACT: Success of genetic association and the prediction of phenotypic traits from DNA are known to depend on the accuracy of phenotype characterization, amongst other parameters. To overcome limitations in the characterization of human iris pigmentation, we introduce a fully automated approach that specifies the areal proportions proposed to represent differing pigmentation types, such as pheomelanin, eumelanin, and non-pigmented areas within the iris. We demonstrate the utility of this approach using high-resolution digital eye imagery and genotype data from 12 selected SNPs from over 3000 European samples of seven populations that are part of the EUREYE study. In comparison to previous quantification approaches, (1) we achieved an overall improvement in eye colour phenotyping, which provides a

SUBMITTER: Wollstein A 

PROVIDER: S-EPMC5327401 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature