Article
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
Human genetics - 1 Mar 2008
Eiberg Hans, Troelsen Jesper, Nielsen Mette, Mikkelsen Annemette, Mengel-From Jonas, Kjaer Klaus W, Hansen Lars
Abstract excerpt
The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By association analyses, we identified two SNPs within this region that were perfectly associated...
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