Investigating the genetic architecture of eye colour in a Canadian cohort
Frida Lona‐Durazo, Rohit Thakur, Erola Pairo‐Castineira, Karen Funderburk, Tongwu Zhang, Michael A. Kovacs, Jiyeon Choi, Ian J. Jackson, Kevin M. Brown, Esteban J. Parra
Abstract
region, whereas other loci likely harbor a single causal signal. We observed colocalization of eye color signals with the expression or methylation profiles of cultured primary melanocytes. Genetic correlations of eye and hair color suggest high genome-wide pleiotropy, but locus-level differences in the genetic architecture of both traits. Overall, we provide a better picture of the polymorphisms underpinning eye color variation, which may be a consequence of specific molecular processes in the iris melanocytes.
Topics & Concepts
Eye colorGenetic architectureBiologyGeneticsLocus (genetics)Evolutionary biologyGenome-wide association studyPhenotypeGenotypeSingle-nucleotide polymorphismGenemelanin and skin pigmentationBiochemical Analysis and Sensing TechniquesSkin Protection and Aging