Eye colour and SNPs in Danes

Abstract

Single nucleotide polymorphisms (SNPs) affect the pigmentation of the eyes, skin and hair in humans. Four SNPs located in the pigmentation genes HERC2 (rs12913832), OCA2 (rs1800407), SLC45A2 (rs16891982) and IRF4 (rs12203592) known to be important for eye colour were investigated in a Danish population sample. The rs12913832 homozygote genotype GG alone the highest likelihood ratio (LR) = 29.4 for blue versus brown eye colour and, therefore, seems to be a major determinant of eye colour in Danes. Furthermore, it was shown, that the highest LR = 37.5 for dark versus light eye colour was found when the genotypes rs12913832 AG and rs1800407 GG were observed. rs16891982 and rs12203592 had no discernable effect on the eye colour in Danes. © 2011 Elsevier Ireland Ltd.