Genetics of Pigmentation

Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population: Human eye color is a polymorphic phenotype influenced by multiple genes. It has recently been reported that three single nucleotide polymorphisms (SNPs) within intron 1 of the OCA2 gene (rs7495174, rs4778241, rs4778138) and two SNPs in intron 86 (rs12913832) and the 3 UTR region (rs1129038) of the HERC2 gene - located in the upstream of the OCA2 locus - have a high statistical association with human eye color. The present study is the first to…