Genome-wide association study identifies three new melanoma susceptibility loci

Jennifer H. Barrett, Mark M. Iles, Mark Harland, John C. Taylor, Joanne F. Aitken, Per Arne Andresen, Lars A. Akslen, Bruce K. Armstrong, Marie Francoise Avril, Esther Azizi, Bert Bakker, Wilma Bergman, Giovanna Bianchi-Scarrà, Brigitte Bressac-De Paillerets, Donato Calista, Lisa A. Cannon-Albright, Eve Corda, Anne E. Cust, Tadeusz Dȩbniak, David DuffyAlison M. Dunning, Douglas F. Easton, Eitan Friedman, Pilar Galan, Paola Ghiorzo, Graham G. Giles, Johan Hansson, Marko Hocevar, Veronica Höiom, John L. Hopper, Christian Ingvar, Bart Janssen, Mark A. Jenkins, Göran Jönsson, Richard F. Kefford, Giorgio Landi, Maria Teresa Landi, Julie Lang, Jan Lubiński, Rona MacKie, Josep Malvehy, Nicholas G. Martin, Anders Molven, Grant W. Montgomery, Frans A. Van Nieuwpoort, Srdjan Novakovic, Håkan Olsson, Lorenza Pastorino, Susana Puig, Joan Anton Puig-Butille, Juliette Randerson-Moor, Helen Snowden, Rainer Tuominen, Patricia Van Belle, Nienke Van Der Stoep, David C. Whiteman, Diana Zelenika, Jiali Han, Shenying Fang, Jeffrey E. Lee, Qingyi Wei, G. Mark Lathrop, Elizabeth M. Gillanders, Kevin M. Brown, Alisa M. Goldstein, Peter A. Kanetsky, Graham J. Mann, Stuart MacGregor, David E. Elder, Christopher I. Amos, Nicholas K. Hayward, Nelleke A. Gruis, Florence Demenais, Julia A.Newton Bishop, D. Timothy Bishop

Research output: Contribution to journalArticlepeer-review

200 Citations (Scopus)


We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10 -5 and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10 -3: an SNP in ATM (rs1801516, overall P = 3.4 × 10 -9), an SNP in MX2 (rs45430, P = 2.9 × 10 -9) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10 -10). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10 -7 under a fixed-effects model and P = 1.2 × 10 -3 under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.

Original languageEnglish
Pages (from-to)1108-1113
Number of pages6
JournalNature Genetics
Issue number11
Publication statusPublished - Nov 2011
Externally publishedYes


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