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

Matthew H. Law, D. Timothy Bishop, Jeffrey E. Lee, Myriam Brossard, Nicholas G. Martin, Eric K. Moses, Fengju Song, Jennifer H. Barrett, Rajiv Kumar, Douglas F. Easton, Paul D P Pharoah, Anthony J. Swerdlow, Katerina P. Kypreou, John C. Taylor, Mark Harland, Juliette Randerson-Moor, Lars A. Akslen, Per A. Andresen, Marie Françoise Avril, Esther AziziGiovanna Bianchi Scarrà, Kevin M. Brown, Tadeusz Dębniak, David L. Duffy, David E. Elder, Shenying Fang, Eitan Friedman, Pilar Galan, Paola Ghiorzo, Elizabeth M. Gillanders, Alisa M. Goldstein, Nelleke A. Gruis, Johan Hansson, Per Helsing, Marko Hočevar, Veronica Höiom, Christian Ingvar, Peter A. Kanetsky, Wei V. Chen, Maria Teresa Landi, Julie Lang, G. Mark Lathrop, Jan Lubiński, Rona M. MacKie, Graham J. Mann, Anders Molven, Grant W. Montgomery, Srdjan Novaković, Håkan Olsson, Susana Puig, Joan Anton Puig-Butille, Abrar A. Qureshi, Graham L. Radford-Smith, Nienke Van Der Stoep, Remco Van Doorn, David C. Whiteman, Jamie E. Craig, Dirk Schadendorf, Lisa A. Simms, Kathryn P. Burdon, Dale R. Nyholt, Karen A. Pooley, Nick Orr, Alexander J. Stratigos, Anne E. Cust, Sarah V. Ward, Nicholas K. Hayward, Jiali Han, Hans Joachim Schulze, Alison M. Dunning, Julia A Newton Bishop, Florence Demenais, Christopher I. Amos, Stuart MacGregor, Mark M. Iles

Research output: Contribution to journalArticlepeer-review


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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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.

Original languageEnglish
Pages (from-to)987-995
Number of pages9
JournalNature Genetics
Issue number9
Publication statusPublished - Aug 27 2015

ASJC Scopus subject areas

  • Genetics


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