The accuracy of predicting eye and hair pigmentation based on genetic markers in Russian populations

About authors

1 Research Center for Medical Genetics, Moscow, Russia

2 Vavilov Institute of General Genetics, RAS, Moscow

3 Biobank of North Eurasia, Moscow, Russia

4 Moscow Institute of Physics and Technology, Moscow, Russia

5 Federal Research and Clinical Center of Physical-Chemical Medicine, Moscow, Russia

6 Institute of Anthropology and Ethnography, Moscow, Russia

7 Anuchin Research Institute and Museum of Anthropology, Moscow, Russia

Correspondence should be addressed: Elena V. Balanovska
Moskvorechie, 1, Research Centre for Medical Genetics, Moscow, 115522; ur.liam@aksvonalab

About paper

Funding: the study was supported by the Ministry of Science and Education of the Russian Federation (State contract 011–17 dated 26.09.2017) as part of the Union State Research and Technical Project DNA-based identification, which included genotyping and phenotyping of European samples and preparation of this manuscript, and the State assignment of the Ministry of Science and Higher Education of the Russian Federation for the Research Centre for Medical Genetics (phenotyping of Siberian samples, creating a database, data analysis).

Acknowledgements: we thank all donors participating in our study. DNA samples and anthropological images were provided by the Biobank of North Eurasia.

Author contribution: Balanovska EV — supervision and study design; Petrushenko VS, Gorin IO — bioinformatic analysis, literature analysis, manuscript preparation; Maurer AM, Leybova NA — phenotyping of the samples; Kagazezheva ZhA — phenotyping of the samples, photography, photo processing, tabular data processing; Balanovsky OP, Markina NV — manuscript preparation; Kostryukova ES — genotyping.

Received: 2019-10-22 Accepted: 2019-10-26 Published online: 2019-10-28

Prediction of eye and hair color from DNA is being increasingly employed in forensics and the studies of ancient populations. HIrisPlex-S is a prediction tool trained on the Dutch dataset and verified using a few other European populations. The accuracy of its predictions for other regions of the world has not been studied yet. Russian populations pose a special interest because, unlike the majority of world populations, their representatives can have not only dark but also light color eyes and hair. The aim of this work was to evaluate the accuracy of eye and hair color prediction in Russian populations. We recruited 144 representatives of indigenous peoples of Russia (Avar, Aleut, Buryat, Itelmen, Karelian, Koryak, Mari, Nanai, Russian, Rutulian, Chuvash, Chukchi, Evenk, and Even populations). All study participants were photographed. Eye and hair colors were identified from the anthropological images by anthropologists. The SNP markers included in the HIrisPlex system were genotyped. Phenotypes were predicted from the obtained genotypes and subsequently compared to the actual phenotypes. Quality metrics were calculated for HIrisPlex prediction accuracy in the populations of European Russia and Siberia. On the whole, HIrisPlex prediction accuracy was satisfactory, although a bit lower than in Western European datasets. Further research could focus on identifying additional markers to improve the accuracy of predictions in Russian populations.

Keywords: eye color, hair color, genetic markers, prediction, gene pool, indigenous people, HIrisPlex-S