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Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma

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dc.contributor Háskóli Íslands
dc.contributor University of Iceland
dc.contributor.author Sarin, Kavita Y.
dc.contributor.author Lin, Yuan
dc.contributor.author Daneshjou, Roxana
dc.contributor.author Ziyatdinov, Andrey
dc.contributor.author Thorleifsson, Gudmar
dc.contributor.author Rubin, Adam
dc.contributor.author Pardo, Luba M.
dc.contributor.author Wu, Wenting
dc.contributor.author Khavari, Paul A.
dc.contributor.author Uitterlinden, Andre
dc.contributor.author Nijsten, Tamar
dc.contributor.author Toland, Amanda E.
dc.contributor.author Ólafsson, Jón H.
dc.contributor.author Sigurgeirsson, Bárður
dc.contributor.author Þórisdóttir, Kristín
dc.contributor.author Jorgensen, Eric
dc.contributor.author Whittemore, Alice S.
dc.contributor.author Kraft, Peter
dc.contributor.author Stacey, Simon
dc.contributor.author Stefansson, Kari
dc.contributor.author Asgari, Maryam M.
dc.contributor.author Han, Jiali
dc.date.accessioned 2021-01-13T13:49:52Z
dc.date.available 2021-01-13T13:49:52Z
dc.date.issued 2020-02-10
dc.identifier.citation Sarin, K.Y., Lin, Y., Daneshjou, R. et al. Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. Nature Communications 11, 820 (2020). https://doi.org/10.1038/s41467-020-14594-5
dc.identifier.issn 2041-1723
dc.identifier.uri https://hdl.handle.net/20.500.11815/2360
dc.description Publisher's version (útgefin grein)
dc.description.abstract Cutaneous squamous cell carcinoma (SCC) is one of the most common cancers in the United States. Previous genome-wide association studies (GWAS) have identified 14 single nucleotide polymorphisms (SNPs) associated with cutaneous SCC. Here, we report the largest cutaneous SCC meta-analysis to date, representing six international cohorts and totaling 19,149 SCC cases and 680,049 controls. We discover eight novel loci associated with SCC, confirm all previously associated loci, and perform fine mapping of causal variants. The novel SNPs occur within skin-specific regulatory elements and implicate loci involved in cancer development, immune regulation, and keratinocyte differentiation in SCC susceptibility. © 2020, The Author(s).
dc.description.sponsorship We thank the research participants and employees of 23andMe for contributing to this work. In addition, we thank the participants and staff of the Nurses’ Health Study and the Health Professionals Follow-up Study, for their valuable contributions, as well as the following state cancer registries for their help: A.L., A.Z., A.R., C.A., C.O., C.T., D.E., F.L., G.A., I.D., I.L., I.N., I.A., K.Y., L.A., M.E., M.D., M.A., M.I., N.E., N.H., N.J., N.Y., N.C., N.D., O.H., O.K., O.R., P.A., R.I., S.C., T.N., T.X., V.A., W.A. and W.Y. We assume full responsibility for analyses and interpretation of these data. EQTL data described in this paper were obtained from the GTEx Portal on 06/01/2018. We thank L. Tryggvadottir and G.H. Olafsdottir of the Icelandic Cancer Registry for assistance in the ascertainment of affected individuals. We thank D. Allain, V. Klee, and M. Bernhardt for ascertainment of cases and associated clinical data. The OSU Human Genetics Sample bank provided control samples. This work was supported in part by the National Human Genome Research Institute of the National Institutes of Health (grant number R44HG006981) and in part by NIH R01 CA49449, P01 CA87969, UM1 CA186107, UM1 CA167552, R03 CA219779, K23 CA211793 (K.Y.S.), and in part by Walther Cancer Foundation (J.H.). K.Y.S. is a Damon Runyon Clinical Investigator supported (in part) by the Damon Runyon Cancer Research Foundation. The Rotterdam Study is funded by Erasmus Medical Center and Erasmus University Rotterdam; Netherlands Organization for the Health Research and Development (ZonMw); the Research Institute for Diseases in the Elderly (RIDE); the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the Municipality of Rotterdam.
dc.format.extent 820
dc.language.iso en
dc.publisher Springer Science and Business Media LLC
dc.relation.ispartofseries Nature Communications;11(1)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Genome-wide meta-analysis
dc.subject Cutaneous squamous cell carcinoma
dc.subject Cancer
dc.subject Nucleotide polymorphisms
dc.subject Erfðarannsóknir
dc.subject Krabbamein
dc.title Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma
dc.type info:eu-repo/semantics/article
dcterms.license Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.description.version Peer Reviewed
dc.identifier.journal Nature Communications
dc.identifier.doi 10.1038/s41467-020-14594-5
dc.relation.url https://www.nature.com/articles/s41467-020-14594-5
dc.contributor.department Læknadeild (HÍ)
dc.contributor.department Faculty of Medicine (UI)
dc.contributor.school Heilbrigðisvísindasvið (HÍ)
dc.contributor.school School of Health Sciences (UI)

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