Genome-wide association study of skin pigmentation in African Americans

Major genes linked to pigmentation traits, such as skin color, eye color, tanning, and hair color, have been identified, but unidentified population-specific variants affecting skin pigmentation variation in African Americans and other African descent populations may exist. The goal of this genome-wide association study was to identify variants associated with skin pigmentation in African Americans, who exhibit a vast range of variation in skin pigmentation and genetic ancestral proportion. Self-identified African Americans (n=395) from Washington, D.C., and Chicago, IL were included in this study. Skin pigmentation was measured with an objective method using a reflectometer. There was a large proportion of skin pigmentation variation unexplained by known genetic variants, but variants in major pigmentation genes, such as SLC24A5, SLC45A2, and OCA2, explain skin pigmentation variation in African Americans. ]]>