Optimizing the genetic prediction of the eye and hair color for North Eurasian populations
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RESEARCH
Open Access
Optimizing the genetic prediction of the eye and hair color for North Eurasian populations Elena Balanovska1,2†, Elena Lukianova3†, Janet Kagazezheva1,3,4, Andrey Maurer5, Natalia Leybova6, Anastasiya Agdzhoyan1,3, Igor Gorin3,7, Valeria Petrushenko3,7, Maxat Zhabagin8, Vladimir Pylev1, Elena Kostryukova9 and Oleg Balanovsky1,2,3* From 11th International Young Scientists School “Systems Biology and Bioinformatics” – SBB-2019 Novosibirsk, Russia. 24-28 June 2019
Abstract Background: Predicting the eye and hair color from genotype became an established and widely used tool in forensic genetics, as well as in studies of ancient human populations. However, the accuracy of this tool has been verified on the West and Central Europeans only, while populations from border regions between Europe and Asia (like Caucasus and Ural) also carry the light pigmentation phenotypes. Results: We phenotyped 286 samples collected 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 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 the studied populations is compatible with the two major previously well-known SNPs. Four out of these five SNPs lie within the HERС2 gene and the fifth in the intergenic region. These SNPs are found at high frequencies in most studied populations. The released dataset of exomes from Russian populations can be further used for population genetic and medical genetic studies. Conclusions: This study demonstrated that precision of the established systems for eye/hair color prediction from a genotype is slightly lower for the populations from the border regions between Europe and Asia that for the West Europeans. However, this precision can be improved if some newly revealed predictive SNPs are added into the panel. We discuss that the replication of these pigmentation-associated SNPs on the independent North Eurasian sample is needed in the future studies. Keywords: Population genetics, Exome sequencing, Gene pools, Pigmentation, DNA markers, Eye color, Hair color, Appearance * Correspondence: [email protected] † Balanovska Elena and Lukianova Elena contributed equally to this work. 1 Research Centre for Medical Genetics, Moscow, Russia 2 Biobank of North Eurasia, Moscow, Russia Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution
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