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

Matthew Law, D Bishop, Jeffrey Lee, Myriam Brossard, Nicholas Martin, Erik Moses, Fengju Song, Jennifer Barrett, Rajiv Kumar, Douglas Easton, P Pharoah, Anthony Swerdlow, Katerina Kypreou, John Taylor, Mark Harland, Juliette Randerson-Moor, Lars Akslen, Per Andresen, Marie-Francoise Avril, Esther AziziGiovanna Scarra, Kevin Brown, Tadeusz Debniak, David Duffy, David Elder, Shenying Fang, Eitan Friedman, Pilar Galan, Paolo Ghiorzo, Elizabeth Gillanders, Alisa Goldstein, Nelleke Gruis, Johan Hansson, Per Helsing, Marko Hocevar, Veronica Hoiom, Christian Ingvar, Peter Kanetsky, Wei Chen, Maria Landi, Julie Lang, Mark Lathrop, J Lubinski, Rona Mackie, Graham Mann, Anders Molven, Grant Montgomery, Srdjan Novakovic, Hakan Olsson, Susana Puig, Joan Puig-Butille, Abrar Qureshi, Graham Radford-Smith, Nienke Van Der Stoep, Remco Van Doorn, David Whiteman, Jamie Craig, Dirk Schadendorf, L Simms, Kathryn Burdon, Dale Nyholt, Karen Pooley, Nick Orr, Alexander Stratigos, Anne Cust, Sarah Ward, Nicholas Hayward, Jiali Han, Hans-Joachim Schulze, Alison Dunning, Julia Newton Bishop, Florence Demenais, Christopher Amos, Stuart Macgregor, Mark Iles

Research output: Contribution to journalArticlepeer-review

147 Citations (Scopus)


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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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 - 27 Aug 2015


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