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dc.contributor.authorSalvo, Nina Mjølsnes
dc.contributor.authorAndersen, Jeppe Dyrberg
dc.contributor.authorJanssen, Kirstin
dc.contributor.authorMeyer, Olivia Luxford
dc.contributor.authorBerg, Thomas
dc.contributor.authorBørsting, Claus
dc.contributor.authorOlsen, Gunn-Hege
dc.date.accessioned2023-08-18T08:54:28Z
dc.date.available2023-08-18T08:54:28Z
dc.date.issued2023-03-11
dc.description.abstractThe 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 sequencing of a ~500 kbp HERC2-OCA2 region in 94 rs12913832:AA and AG Norwegians (43 blue-eyed and 51 brown-eyed) to search for novel blue eye colour variants. The new candidate variants were subsequently typed in a Norwegian biobank population (total n = 519) for population specific association analysis. We identified five new variants, rs74409036:A, rs78544415:T, rs72714116:T, rs191109490:C and rs551217952:C, to be the most promising candidates for explaining blue eye colour in individuals with the rs12913832:AA and AG genotype. Additionally, we confirmed the association of the missense variants rs74653330:T and rs121918166:T with blue eye colour, and observed lighter skin colour in rs74653330:T individuals. In total, 37 (86%) of the 43 blue-eyed rs12913832:AA and AG Norwegians could potentially be explained by these seven variants, and we suggest including them in future prediction models.en_US
dc.identifier.citationSalvo, Andersen, Janssen, Meyer, Berg, Børsting, Olsen. Association between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individuals. Genes. 2023;14(3)en_US
dc.identifier.cristinIDFRIDAID 2158715
dc.identifier.doi10.3390/genes14030698
dc.identifier.issn2073-4425
dc.identifier.urihttps://hdl.handle.net/10037/30070
dc.language.isoengen_US
dc.publisherMDPIen_US
dc.relation.ispartofSalvo, N.M. (2024). Forensic DNA phenotyping - Towards reliable and accurate DNA tests for prediction of eye colour, hair colour and biogeographical ancestry. (Doctoral thesis). <a href=https://hdl.handle.net/10037/33807>https://hdl.handle.net/10037/33807</a>
dc.relation.journalGenes
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2023 The Author(s)en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0en_US
dc.rightsAttribution 4.0 International (CC BY 4.0)en_US
dc.titleAssociation between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individualsen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's license is described as Attribution 4.0 International (CC BY 4.0)