Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype

Authors

  • Wojciech Branicki,

    Corresponding author
    1. Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, 31-033 Krakow, Poland
      *Corresponding author: Wojciech Branicki, Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, 31-033 Krakow, Poland. Tel: +4812 422 87 55, Fax: +4812 422 38 50. E-mail: wbranicki@ies.krakow.pl
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  • Urszula Brudnik,

    1. Collegium Medicum of the Jagiellonian University, Department of Dermatology, Kopernika 19, 31-501 Krakow, Poland
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  • Anna Wojas-Pelc

    1. Collegium Medicum of the Jagiellonian University, Department of Dermatology, Kopernika 19, 31-501 Krakow, Poland
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*Corresponding author: Wojciech Branicki, Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, 31-033 Krakow, Poland. Tel: +4812 422 87 55, Fax: +4812 422 38 50. E-mail: wbranicki@ies.krakow.pl

Summary

Human pigmentation is a polygenic trait which may be shaped by different kinds of gene–gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here we performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample we also analysed potential genetic interactions affecting variation in eye, hair and skin colour. Our results confirmed the association of HERC2 rs12913832 with eye colour and showed that this SNP is also significantly associated with skin and hair colouration. It is also concluded that OCA2 rs1800407 is independently associated with eye colour. Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample.

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