Genome-wide association study identifies three loci associated with melanoma risk

D. Timothy Bishop, Florence Demenais, Mark M. Iles, Mark Harland, John C. Taylor, Eve Corda, Juliette Randerson-Moor, Joanne F. Aitken, Marie Francoise Avril, Esther Azizi, Bert Bakker, Giovanna Bianchi-Scarr, Brigitte Bressac-De Paillerets, Donato Calista, Lisa A. Cannon-Albright, Thomas Chin-A-Woeng, Tadeusz Dbniak, Gilli Galore-Haskel, Paola Ghiorzo, Ivo GutJohan Hansson, Marko Hočevar, Veronica Höiom, John L. Hopper, Christian Ingvar, Peter A. Kanetsky, Richard F. Kefford, Maria Teresa Landi, Julie Lang, Jan Lubiski, Rona MacKie, Josep Malvehy, Graham J. Mann, Nicholas G. Martin, Grant W. Montgomery, Frans A. Van Nieuwpoort, Srdjan Novakovic, Håkan Olsson, Susana Puig, Marjan Weiss, Wilbert Van Workum, Diana Zelenika, Kevin M. Brown, Alisa M. Goldstein, Elizabeth M. Gillanders, Anne Boland, Pilar Galan, David E. Elder, Nelleke A. Gruis, Nicholas K. Hayward, G. Mark Lathrop, Jennifer H. Barrett, Julia A. Newton Bishop

Research output: Contribution to journalArticlepeer-review

383 Citations (Scopus)


We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P <5 × 10 -7. Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 × 10 27 for rs258322), 11q14-q21 encompassing TYR (P = 2.41 × 10 14 for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 × 10 7 for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.

Original languageEnglish
Pages (from-to)920-925
Number of pages6
JournalNature Genetics
Issue number8
Publication statusPublished - Aug 2009
Externally publishedYes


Dive into the research topics of 'Genome-wide association study identifies three loci associated with melanoma risk'. Together they form a unique fingerprint.

Cite this