Optimizing the genetic prediction of the eye and hair color for North Eurasian populations

We collected and phenotyped 300 samples from across North Eurasia, genotyped them by the standard HIrisPlex-S markers and found that predictive power in Caucasus/Ural/West Siberian populations is reasonable but lower than that in West Europeans. As these populations have genetic ancestries different from that of West Europeans, we hypothesized they may carry a somewhat different allele spectrum. Thus, for all 300 samples we performed the exome sequencing additionally enriched with the 53 genes and intergenic regions known to be associated with the eye/hair color. Our association analysis replicated the importance of the key previously known SNPs but also identified five new markers whose eye color prediction power for North Eurasians is compatible with the two major previously well-known SNPs. Four out of these five SNPs lie within the HER?2 gene and the fifth in the intergenic region. These SNPs are found with high frequencies in most studied North Eurasian populations. The released dataset of 300 exomes from North Eurasian populations can be further used for population genetic and medical genetic studies.