{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:30:04Z","timestamp":1790879404126,"version":"4.1.0"},"reference-count":42,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,11]],"date-time":"2023-03-11T00:00:00Z","timestamp":1678492800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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 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.<\/jats:p>","DOI":"10.3390\/genes14030698","type":"journal-article","created":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T06:09:56Z","timestamp":1678687796000},"page":"698","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Association between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individuals"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3336-1019","authenticated-orcid":false,"given":"Nina Mj\u00f8lsnes","family":"Salvo","sequence":"first","affiliation":[{"name":"Centre for Forensic Genetics, Department of Medical Biology, Faculty of Health Sciences, UiT The Arctic University of Norway, 9037 Troms\u00f8, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4395-5232","authenticated-orcid":false,"given":"Jeppe Dyrberg","family":"Andersen","sequence":"additional","affiliation":[{"name":"Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirstin","family":"Janssen","sequence":"additional","affiliation":[{"name":"Centre for Forensic Genetics, Department of Medical Biology, Faculty of Health Sciences, UiT The Arctic University of Norway, 9037 Troms\u00f8, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7842-5581","authenticated-orcid":false,"given":"Olivia Luxford","family":"Meyer","sequence":"additional","affiliation":[{"name":"Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Berg","sequence":"additional","affiliation":[{"name":"Centre for Forensic Genetics, Department of Medical Biology, Faculty of Health Sciences, UiT The Arctic University of Norway, 9037 Troms\u00f8, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0421-7429","authenticated-orcid":false,"given":"Claus","family":"B\u00f8rsting","sequence":"additional","affiliation":[{"name":"Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8138-3132","authenticated-orcid":false,"given":"Gunn-Hege","family":"Olsen","sequence":"additional","affiliation":[{"name":"Centre for Forensic Genetics, Department of Medical Biology, Faculty of Health Sciences, UiT The Arctic University of Norway, 9037 Troms\u00f8, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/j.1755-148X.2009.00606.x","article-title":"Genetics of human iris colour and patterns","volume":"22","author":"Sturm","year":"2009","journal-title":"Pigment. 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