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


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 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 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.

DOI: 10.1038/ng.411

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@article{Bishop2009GenomewideAS, title={Genome-wide association study identifies three loci associated with melanoma risk.}, author={David T Bishop and Florence Demenais and Mark M. Iles and Mark Harland and John C. Taylor and Eve Corda and Juliette A Randerson-Moor and Joanne F. Aitken and Marie-Françoise M Avril and Esther Azizi and Bert N. Bakker and Giovanna Bianchi-Scarr{\'a} and Brigitte Bressac-de Paillerets and Donato Calista and Lisa A. Cannon-Albright and Thomas F. C. Chin-A-Woeng and Tadeusz Dȩbniak and Gilli Galore-Haskel and Paola Ghiorzo and Ivo G Gut and Johan Hansson and Marko Hocevar and Veronica H{\"{o}iom and John L. Hopper and Christian Ingvar and Peter A. Kanetsky and Richard F. Kefford and Maria Teresa Landi and Julie M Lang and Jan Lubiński and Rona M. MacKie and Josep Malvehy and Graham J. Mann and Nicholas G. Martin and Grant W. Montgomery and Frans A. van Nieuwpoort and Srdjan Novakovic and H{\aa}kan Olsson and Susana Puig and Marjan Weiss and Wilbert van Workum and Diana Z{\'e}l{\'e}nika and Kevin M Brown and Alisa M. Goldstein and Elizabeth Gillanders and Anne Boland and Pilar Galan and David E. Elder and Nelleke A. Gruis and Nicholas Kim Hayward and G. M. Lathrop and Jennifer H. Barrett and Julia A. Newton Bishop}, journal={Nature genetics}, year={2009}, volume={41 8}, pages={920-5} }