• 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 ...
    • Biological stain collection – Absorbing paper is superior to cotton swabs 

      Janssen, Kirstin; Aune, Marthe; Olsen, Marita; Olsen, Gunn-Hege; Berg, Thomas (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-10-14)
      Biological evidence at crime scenes often contains very small amounts of DNA. Therefore, it is important to use the most effective sampling devices and procedures for stain collection. Currently, cotton swabs moistened with water are widely used, also in our laboratory. However, several studies have shown that other methods may be more efficient.<p> <p>In this study, we compared the DNA sampling ...
    • Experimental long-distance haplotyping of OCA2-HERC2 variants 

      Salvo, Nina Mjølsnes; Mathisen, Marie Gule; Janssen, Kirstin; Berg, Thomas; Olsen, Gunn-Hege (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-10-18)
      The regulatory HERC2 SNP, rs12913832, is strongly associated with blue and brown eye colour. However, eye colour in heterozygous rs12913832 individuals is observed to vary greatly. Missense mutations in OCA2, such as rs1800407 and rs74653330, are associated with lighter eye colour in some but not all heterozygous rs12913832 individuals. Determining the physical linkage of these variants might ...
    • Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs 

      Pakstis, Andrew J.; Gurkan, Cemal; Dogan, Mustafa; Balkaya, Hasan Emin; Dogan, Serkan; Neophytou, Pavlos I.; Cherni, Lotfi; Boussetta, Sami; Khodjet-El-Khil, Houssein; ElGaaied, Amel Ben Ammar; Salvo, Nina Mjølsnes; Janssen, Kirstin; Olsen, Gunn-Hege; Hadi, Sibte; Almohammed, Eida Khalaf; Pereira, Vania; Truelsen, Ditte Mikkelsen; Bulbul, Ozlem; Soundararajan, Usha; Rajeevan, Haseena; Kidd, Judith R.; Kidd, Kenneth K. (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-07-08)
      The set of 55 ancestry informative SNPs (AISNPs) originally developed by the Kidd Lab has been studied on a large number of populations and continues to be applied to new population samples. The existing reference database of population samples allows the relationships of new population samples to be inferred on a global level. Analyses show that these autosomal markers constitute one of the better ...
    • Predicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kit 

      Salvo, Nina Mjølsnes; Janssen, Kirstin; Kirsebom, Maria Kristine; Meyer, Olivia Strunge; Berg, Thomas; Olsen, Gunn-Hege (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-10-24)
      Prediction of eye and hair colour from DNA can be an important investigative tool in forensic cases if conventional DNA profiling fails to match DNA from any known suspects or cannot obtain a hit in a DNA database. The HIrisPlex model for simultaneous eye and hair colour predictions was developed for forensic usage. To genotype a DNA sample, massively parallel sequencing (MPS) has brought new ...
    • 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 ...