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dc.contributor.authorDuffy, David Len
dc.contributor.authorZhu, Guen
dc.contributor.authorLi, Xinen
dc.contributor.authorSanna, Mariannaen
dc.contributor.authorIles, Mark Men
dc.contributor.authorJacobs, Leonie Cen
dc.contributor.authorEvans, David Men
dc.contributor.authorYazar, Seyhanen
dc.contributor.authorBeesley, Jonathanen
dc.contributor.authorLaw, Matthew Hen
dc.contributor.authorKraft, Peteren
dc.contributor.authorVisconti, Alessiaen
dc.contributor.authorTaylor, John Cen
dc.contributor.authorLui, Fanen
dc.contributor.authorWright, Margaret Jen
dc.contributor.authorHenders, Anjali Ken
dc.contributor.authorBowdler, Lisaen
dc.contributor.authorGlass, Danen
dc.contributor.authorIkram, Arfan Men
dc.contributor.authorUitterlinden, André Gen
dc.contributor.authorMadden, Pamela Aen
dc.contributor.authorHeath, Andrew Cen
dc.contributor.authorNelson, Elliot Cen
dc.contributor.authorGreen, Adele Cen
dc.contributor.authorChanock, Stephenen
dc.contributor.authorBarrett, Jennifer Hen
dc.contributor.authorBrown, Matthew Aen
dc.contributor.authorHayward, Nicholas Ken
dc.contributor.authorMacGregor, Stuarten
dc.contributor.authorSturm, Richard Aen
dc.contributor.authorHewitt, Alex Wen
dc.contributor.authorMelanoma GWAS Consortium,en
dc.contributor.authorKayser, Manfreden
dc.contributor.authorHunter, David Jen
dc.contributor.authorNewton Bishop, Julia Aen
dc.contributor.authorSpector, Timothy Den
dc.contributor.authorMontgomery, Grant Wen
dc.contributor.authorMackey, David Aen
dc.contributor.authorSmith, George Daveyen
dc.contributor.authorNijsten, Tamar Een
dc.contributor.authorBishop, D Timothyen
dc.contributor.authorBataille, Veroniqueen
dc.contributor.authorFalchi, Marioen
dc.contributor.authorHan, Jialien
dc.contributor.authorMartin, Nicholas Gen
dc.date.accessioned2019-01-31T10:19:28Z
dc.date.available2019-01-31T10:19:28Z
dc.identifier.issn2041-1723
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/288608
dc.description.abstractThe total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis.
dc.languageengen
dc.publisherSpringer Nature
dc.rightsAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.titleNovel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.en
dc.typeArticle
prism.issueIdentifier1en
prism.number4774en
prism.publicationNameNature Communicationsen
prism.volume9en
dc.identifier.doi10.17863/CAM.35891
dcterms.dateAccepted2018-09-13en
rioxxterms.versionofrecord10.1038/s41467-018-06649-5en
rioxxterms.versionVoR*
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2018-09-13en
dc.identifier.eissn2041-1723
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idIsaac Newton Trust (1307 (k))
pubs.funder-project-idCancer Research UK (16563)
pubs.funder-project-idEuropean Commission Horizon 2020 (H2020) Societal Challenges (634935)
pubs.funder-project-idCancer Research UK (16565)
cam.issuedOnline2018-11-14en


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International