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AK susceptibility has a moderate genetic component, and although a few susceptibility loci have been identified, including <jats:italic>IRF4, TYR<\/jats:italic>, and <jats:italic>MC1R<\/jats:italic>, additional loci have yet to be discovered. We conducted a genome-wide association study of AK in non-Hispanic white participants of the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort (<jats:italic>n<\/jats:italic>\u2009=\u200963,110, discovery cohort), with validation in the Mass-General Brigham (MGB) Biobank cohort (<jats:italic>n<\/jats:italic>\u2009=\u200929,130). We identified eleven loci (<jats:italic>P<\/jats:italic>\u2009&lt;\u20095\u2009\u00d7\u200910<jats:sup>\u22128<\/jats:sup>), including seven novel loci, of which four novel loci were validated. In a meta-analysis (GERA\u2009+\u2009MGB), one additional novel locus, <jats:italic>TRPS1<\/jats:italic>, was identified. Genes within the identified loci are implicated in pigmentation (<jats:italic>SLC45A2, IRF4, BNC2<\/jats:italic>, <jats:italic>TYR, DEF8, RALY, HERC2<\/jats:italic>, and <jats:italic>TRPS1<\/jats:italic>), immune regulation (<jats:italic>FOXP1<\/jats:italic> and <jats:italic>HLA-DQA1<\/jats:italic>), and cell signaling and tissue remodeling (<jats:italic>MMP24<\/jats:italic>) pathways. Our findings provide novel insight into the genetics and pathogenesis of AK susceptibility.<\/jats:p>","DOI":"10.1038\/s42003-022-03301-3","type":"journal-article","created":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T10:03:36Z","timestamp":1650535416000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways"],"prefix":"10.1038","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8266-6241","authenticated-orcid":false,"given":"Yuhree","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailiang","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5829-8191","authenticated-orcid":false,"given":"Eric","family":"Jorgenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9839-8667","authenticated-orcid":false,"given":"H\u00e9l\u00e8ne","family":"Choquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam M.","family":"Asgari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,4,21]]},"reference":[{"key":"3301_CR1","first-page":"28","volume":"7","author":"G Goldenberg","year":"2014","unstructured":"Goldenberg, G. & Perl, M. 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