• Association between copy number variations in the OCA2-HERC2 locus and human eye colour 

      Salvo, Nina Mjølsnes; Janssen, Kirstin; Olsen, Gunn-Hege; Berg, Thomas; Andersen, Jeppe Dyrberg (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-09-29)
      Human eye colour variation is strongly associated with single nucleotide polymorphisms (SNPs) in the OCA2- HERC2 locus, especially rs12913832 that is found in an enhancer element of OCA2. In a previous study we found that 43 out of 166 individuals in a Norwegian population with the brown eye colour genotype HERC2 rs12913832:AA or AG, did not have the expected brown eye colour. To investigate if ...
    • Association between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individuals 

      Salvo, Nina Mjølsnes; Andersen, Jeppe Dyrberg; Janssen, Kirstin; Meyer, Olivia Luxford; Berg, Thomas; Børsting, Claus; Olsen, Gunn-Hege (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-03-11)
      The OCA2-HERC2 region is strongly associated with human pigmentation, especially eye colour. The HERC2 SNP rs12913832 is currently the best-known predictor for blue and brown eye colour. However, in a previous study we found that 43 of 166 Norwegians with the brown eye colour genotype rs12913832:AA or AG, did not have the expected brown eye colour. In this study, we carried out massively parallel ...
    • Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set 

      Meyer, Olivia Strunge; Salvo, Nina Mjølsnes; Kjærbye, Anne; Kjersem, Marianne; Andersen, Mikkel Meyer; Sørensen, Erik; Ullum, Henrik; Janssen, Kirstin; Morling, Niels; Børsting, Claus; Olsen, Gunn-Hege; Andersen, Jeppe Dyrberg (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-05-27)
      Description of a perpetrator’s eye colour can be an important investigative lead in a forensic case with no apparent suspects. Herein, we present 11 SNPs (Eye Colour 11-EC11) that are important for eye colour prediction and eye colour prediction models for a two-category reporting system (blue and brown) and a three-category system (blue, intermediate, and brown). The EC11 SNPs were carefully selected ...