Prognostic capacity of the HIrisPlex genetic phenotyping system in the Belarusian population

Cover Page

Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription Access

Abstract

BACKGROUND: Externally visible traits such as iris and hair color are of interest in different areas of research from archeology and population genetics to forensic science. Recently a number of models have been developed to predict variants of human phenotypic traits. The most popular of them is the HIrisPlex system consisting of 24 SNPs, associated with human eyes and hair color.

MATERIALS AND METHODS: We used the HIrisPlex system for phenotyping of the Belarusian population. Allelic variants of the SNPs were genotyped by massive parallel sequencing. The analysis of the obtained data was performed using the free-available online resource https://HIrisPlex.erasmusmc.nl.

RESULTS: The comparison of the results of genotyping with actual data showed high accuracy of the system for predicting blue and brown eye color (94.5% and 91.8% of correct predictions, respectively), and in identifying brown-haired (84.7%) and red-haired individuals (80%). The HIrisPlex system successfully predicts iris and hair color in two most numerous phenotypic groups – “brown-haired with blue eyes” (BA = 78.5%) and “brown-haired with brown eyes” (BA = 85.5%).

CONCLUSION: The HIrisPlex system has a high prognostic ability for forensic DNA phenotyping in the Belarusian population. But for traits that are difficult identified, additional researchers are required.

About the authors

Marina V. Seredenko

Institute of Genetics and Cytology, National Academy of Sciences of Belarus

Email: m.shinkevich@igc.by

Junior Researcher

Belarus, 27 Akademicheskaya str., 220072, Minsk

Svetlana I. Vakula

Institute of Genetics and Cytology, National Academy of Sciences of Belarus

Email: svettera@yandex.ru
ORCID iD: 0000-0002-2242-7107

researcher

Belarus, 27 Akademicheskaya str., 220072, Minsk

Marina N. Shapturenko

Institute of Genetics and Cytology, National Academy of Sciences of Belarus

Author for correspondence.
Email: marinashapturenko@gmail.com
ORCID iD: 0000-0003-4694-3197
SPIN-code: 4774-2805

Dr. Sci. (Biol.), Associate Professor, Chief Researcher

Belarus, 27 Akademicheskaya str., 220072, Minsk

Alexander V. Kondratsiuk

Institute of Genetics and Cytology, National Academy of Sciences of Belarus

Email: aliaks.k@mail.ru

Junior Researcher

Belarus, 27 Akademicheskaya str., 220072, Minsk

Sergey R. Borovko

State Forensic Examination Committee of the Republic of Belarus

Email: s_borovko@mail.ru

Chief Forensic Expert

Belarus, Minsk

Artur V. Lugovnjov

State Forensic Examination Committee of the Republic of Belarus

Email: s_borovko@mail.ru

Forensic Expert

Belarus, Minsk

Irena G. Gudievskaya

Belarusian State Medical University

Email: freedom-iren@mail.ru

postgraduate student

Belarus, Minsk

Olga V. Skrypnik

Belarusian State Medical University

Email: olgaskrypnik1986@gmail.com

Postgraduate student

Belarus, Minsk

Lyudmila N. Marchenko

Belarusian State Medical University

Email: liudmila.marchenko@gmail.com
SPIN-code: 1730-3625

Postgraduate student

Belarus, Minsk

Alexander V. Kilchevsky

Institute of Genetics and Cytology, National Academy of Sciences of Belarus

Email: Kilchev@presidium.bas-net.by
ORCID iD: 0000-0002-0175-9786
SPIN-code: 2496-4294

Dr. Sci. (Biol.), Professor, Academician

Belarus, 27 Akademicheskaya str., 220072, Minsk

References

  1. Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004;20(8):327–332. doi: 10.1016/j.tig.2004.06.010
  2. Gerstenblith MR, Goldstein AM, Fargnoli MC, et al. Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum Mutat. 2007;28(5):495–505. doi: 10.1002/humu.20476
  3. Fan L, Wollstein A, Hysi PG, et al. Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet. 2010;6(5): e1000934. doi: 10.1371/journal.pgen.1000934
  4. Rawofi L, Edwards M, Krithika S, et al. Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. PeerJ. 2017;5: e3951. doi: 10.7717/peerj.3951
  5. Walsh S, Liu F, Ballantyne KN, et al. IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Sci Int Genet. 2011;5(3):170–180. doi: 10.1016/j.fsigen.2010.02.004
  6. Walsh S, Liu F, Wollstein A, et al. The HIrisPlex system for simultaneous prediction of hair and eye color from DNA. Forensic Sci Int Genet. 2013;7(1):98–115. doi: 10.1016/j.fsigen.2012.07.005
  7. Ruiz Y, Phillips C, Gomez-Tato A, et al. Further development of forensic eye color predictive tests. Forensic Sci Int Genet. 2013;7(1):28–40. doi: 10.1016/j.fsigen.2012.05.009
  8. Hart KL, Kimura SL, Mushailov V, et al. Improved eye- and skin-color prediction based on 8 SNPs. Croat. Med. J. 2013;54(3):248–256. doi: 10.3325/cmj.2013.54.248
  9. Branicki W, Liu F, van Duijn K, et al. Model-based prediction of human hair color using DNA variants. Hum Genet. 2011;129(4): 443–454. doi: 10.1007/s00439-010-0939-8
  10. King T, Fortes G, Balaresque P, et al. Identification of the remains of King Richard III. Nat Commun. 2014;5(1):5631. doi: 10.1038/ncomms6631
  11. Chaitanya L, Pajnič IZ, Walsh S, et al. Bringing colour back after 70 years: Predicting eye and hair colour from skeletal remains of World War II victims using the HIrisPlex system. Forensic Sci Int Genet. 2017;26:48–57. doi: 10.1016/j.fsigen.2016.10.004
  12. Bunak V.V. Proishozhdenie i jetnicheskaja istorija russkogo naroda po antropologicheskim dannym. Moscow: Nauka, 1965. 416 p. (In Russ.)
  13. HIrisPlex-S DNA Phenotyping Webtool User Manual Version 2.0 (2018). [Internet] Cancer Online Resources. [updated 13.05.2020]. Available from: https://HIrisPlex.erasmusmc.nl/pdf/HIrisPlex.erasmusmc.nl.pdf.
  14. Meyer OS, Børsting C, Andersen JD. Perception of blue and brown eye colors for forensic DNA phenotyping. Forensic Sci Int Genet Suppl Ser. 2019;7(1):476–477. doi: 10.1016/j.fsigss.2019.10.057
  15. Kukla-Bartoszek M, Pośpiech E, Spólnicka M, et al. Investigating the impact of age-depended hair colour darkening during childhood on DNA-based hair colour prediction with the HIrisPlex system. Forensic Sci Int Genet. 2018;36:26–33. doi: 10.1016/j.fsigen.2018.06.007
  16. Hollis B, Day FR, Busch AS, et al. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan. Nat Commun. 2020;11(1):1536. doi: 10.1038/s41467-020-14451-5
  17. Itou T. Morphological changes in hair melanosomes by aging. Pigment Cell Melanoma Res. 2018;31(5):630–635. doi: 10.1111/pcmr.12697
  18. Lin BD, Mbarek H, Willemsen G, et al. Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample. Genes. 2015;6(3):559–576. doi: 10.3390/genes6030559
  19. Caliebe A, Harder M, Schuett R, et al. The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population. Eur J Hum Genet. 2016;24(5):739–747. doi: 10.1038/ejhg.2015.167
  20. Mіkulіch A.I. Belarusy ÿ genetychnaj prastory: Antrapalogіja jetnasu. Belarusian Historical Review. 2006;13(2):58–66. (In Russ.)
  21. Sharuho I.N. Belorusy v antropologicheskom i jetnicheskom prostranstve. Pskov Journal of Regional Studies. 2008;(6):142–152. (In Russ.)
  22. Junker K, Staadig A, Sidstedt M, et al. Phenotype prediction accuracy – A Swedish perspective. Forensic Sci Int Genet Suppl Ser. 2019;7(1):384–386. doi: 10.1016/j.fsigss.2019.10.022
  23. Sulem P, Gudbjartsson DF, Stacey SN, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nature Genetics. 2008;39(12):1443–1452. doi: 10.1038/ng.2007.13
  24. Lin BD, Willemsen G, Abdellaoui A, et al. The Genetic Overlap Between Hair and Eye Color. Twin Research and Human Genetics. 2016;19(06):595–599. doi: 10.1017/thg.2016.85

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2021 ООО "Эко-Вектор"


 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies