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

Sarin, Kavita Y.; Lin, Yuan; Daneshjou, Roxana; Ziyatdinov, Andrey; Thorleifsson, Gudmar; Rubin, Adam; Pardo, Luba M.; Wu, Wenting; Khavari, Paul A.; Uitterlinden, Andre; Nijsten, Tamar; Toland, Amanda E.; Ólafsson, Jón H.; Sigurgeirsson, Bárður; Þórisdóttir, Kristín; Jorgensen, Eric; Whittemore, Alice S.; Kraft, Peter; Stacey, Simon; Stefansson, Kari; Asgari, Maryam M.; Han, Jiali

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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	orcid.org/0000-0003-4623-9087 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	orcid.org/0000-0002-9733-9742 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	orcid.org/0000-0002-4732-7380 Stacey, Simon
dc.contributor.author	orcid.org/0000-0003-1676-864X 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)