Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma Law, Matthew H Bishop, D Timothy Lee, Jeffrey E Brossard, Myriam Martin, Nicholas G Moses, Eric K Song, Fengju Barrett, Jennifer H Kumar, Rajiv Easton, Douglas F Pharoah, Paul D P Swerdlow, Anthony J Kypreou, Katerina P Taylor, John C Harland, Mark Randerson-Moor, Juliette Akslen, Lars A Andresen, Per A Avril, Marie-Francois Azizi, Eesther Scarra, Giovanna Bianch Brown, Kevin Debniak, Tadeusz Duffy, David L Elder, David E Fang, Shenying Friedman, Eeitan Galan, Pilar Ghiorzo, Paola Gillanders, Elizabeth M Goldstein, Alisa M Gruis, Nelleke A Hansson, Johan Helsing, Per Hocevar, Marko Hoiom, Veronica Ingvar, Christian Kanetsky, Peter A Chen, Wei V Consortium, GenoMEL Investigators, Essen-Heidelberg Investigators, Q-MEGA and QTWIN Investigators, AMFS Study Group, ATHENS Melanoma Landi, Maria Teresa Lang, Julie Lathrop, G Mark Lubinski, Jan Mackie, Rona M Craig, Jamie E Burdon, Kathryn Penelope et. al. 2016-05-27T02:00:12Z 2016-05-27T02:00:12Z 2015
dc.description Author manuscript available from PMC 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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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 en
dc.identifier.issn 1061-4036
dc.language.iso en en
dc.publisher Nature Publishing Group en
dc.relation 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
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
2.73 KB
Item-specific license agreed upon to submission