Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

dc.contributor.author Law, Matthew H
dc.contributor.author Bishop, D Timothy
dc.contributor.author Lee, Jeffrey E
dc.contributor.author Brossard, Myriam
dc.contributor.author Martin, Nicholas G
dc.contributor.author Moses, Eric K
dc.contributor.author Song, Fengju
dc.contributor.author Barrett, Jennifer H
dc.contributor.author Kumar, Rajiv
dc.contributor.author Easton, Douglas F
dc.contributor.author Pharoah, Paul D P
dc.contributor.author Swerdlow, Anthony J
dc.contributor.author Kypreou, Katerina P
dc.contributor.author Taylor, John C
dc.contributor.author Harland, Mark
dc.contributor.author Randerson-Moor, Juliette
dc.contributor.author Akslen, Lars A
dc.contributor.author Andresen, Per A
dc.contributor.author Avril, Marie-Francois
dc.contributor.author Azizi, Eesther
dc.contributor.author Scarra, Giovanna Bianch
dc.contributor.author Brown, Kevin
dc.contributor.author Debniak, Tadeusz
dc.contributor.author Duffy, David L
dc.contributor.author Elder, David E
dc.contributor.author Fang, Shenying
dc.contributor.author Friedman, Eeitan
dc.contributor.author Galan, Pilar
dc.contributor.author Ghiorzo, Paola
dc.contributor.author Gillanders, Elizabeth M
dc.contributor.author Goldstein, Alisa M
dc.contributor.author Gruis, Nelleke A
dc.contributor.author Hansson, Johan
dc.contributor.author Helsing, Per
dc.contributor.author Hocevar, Marko
dc.contributor.author Hoiom, Veronica
dc.contributor.author Ingvar, Christian
dc.contributor.author Kanetsky, Peter A
dc.contributor.author Chen, Wei V
dc.contributor.author Consortium, GenoMEL
dc.contributor.author Investigators, Essen-Heidelberg
dc.contributor.author Investigators, Q-MEGA and QTWIN
dc.contributor.author Investigators, AMFS
dc.contributor.author Study Group, ATHENS Melanoma
dc.contributor.author Landi, Maria Teresa
dc.contributor.author Lang, Julie
dc.contributor.author Lathrop, G Mark
dc.contributor.author Lubinski, Jan
dc.contributor.author Mackie, Rona M
dc.contributor.author Craig, Jamie E
dc.contributor.author Burdon, Kathryn Penelope
dc.contributor.author et. al.
dc.date.accessioned 2016-05-27T02:00:12Z
dc.date.available 2016-05-27T02:00:12Z
dc.date.issued 2015
dc.description Author manuscript available from PMC http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557485/ en
dc.description.abstract Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10−8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology. en
dc.identifier.citation Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PD, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dȩbniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Ingvar C, Kanetsky PA, Chen WV; GenoMEL Consortium; Essen-Heidelberg Investigators; SDH Study Group; Q-MEGA and QTWIN Investigators; AMFS Investigators; ATHENS Melanoma Study Group, Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novaković S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, Hayward NK, Han J, Schulze HJ, Dunning AM, Bishop JA, Demenais F, Amos CI, MacGregor S, Iles MM. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet. 2015 Sep;47(9):987-95. doi: 10.1038/ng.3373. en
dc.identifier.doi https://doi.org/10.1038/ng.3373 en
dc.identifier.issn 1061-4036
dc.identifier.uri http://hdl.handle.net/2328/36134
dc.identifier.uri http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557485/
dc.language.iso en en
dc.publisher Nature Publishing Group en
dc.relation http://purl.org/au-research/grants/NHMRC/1065433 en
dc.relation.grantnumber NHMRC/1065433 en
dc.rights Copyright 2015 Nature America, Inc. All rights reserved. en
dc.rights.holder Nature America, Inc. en
dc.subject Genetics research
dc.subject Melanoma
dc.subject Genome-wide association studies
dc.title Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma en
dc.type Article en
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