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

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Bishop, D Timothy, Demenais, Florence, Iles, Mark M, Harland, Mark, Taylor, John C, Corda, Eve, Randerson-Moor, Juliette, Aitken, Joanne F, Avril, Marie-Francoise, Azizi, Esther, Bakker, Bert, Bianchi-Scarrà, Giovanna, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A, Chin-A-Woeng, Thomas, Dębniak, Tadeusz, Galore-Haskel, Gilli, Ghiorzo, Paola, Gut, Ivo, Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Hopper, John L, Ingvar, Christian, Kanetsky, Peter A, Kefford, Richard F, Landi, Maria Teresa, Lang, Julie, Lubiński, Jan, Mackie, Rona, Malvehy, Josep, Mann, Graham J, Martin, Nicholas G, Montgomery, Grant W, van Nieuwpoort, Frans A, Novakovic, Srdjan, Olsson, Håkan, Puig, Susana, Weiss, Marjan, van Workum, Wilbert, Zelenika, Diana, Brown, Kevin M, Goldstein, Alisa M, Gillanders, Elizabeth M, Boland, Anne, Galan, Pilar, Elder, David E, Gruis, Nelleke A, Hayward, Nicholas K, Lathrop, G Mark, Barrett, Jennifer H, Newton Bishop, Julia A·2009·Nature Genetics
DOI 10.1038/ng.411
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Abstract

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.

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Research works printed but not linked: 33

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Metadata

Authors
Bishop, D. T., Demenais, F., Iles, M. M., Harland, M., Taylor, J. C., Corda, E., Randerson-Moor, J., Aitken, J. F., Avril, M.-F., Azizi, E., Bakker, B., Bianchi-Scarrà, G., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L. A., Chin-A-Woeng, T., Dębniak, T., Galore-Haskel, G., Ghiorzo, P., Gut, I., Hansson, J., Hočevar, M., Höiom, V., Hopper, J. L., Ingvar, C., Kanetsky, P. A., Kefford, R. F., Landi, M. T., Lang, J., Lubiński, J., Mackie, R., Malvehy, J., Mann, G. J., Martin, N. G., Montgomery, G. W., van Nieuwpoort, F. A., Novakovic, S., Olsson, H., Puig, S., Weiss, M., van Workum, W., Zelenika, D., Brown, K. M., Goldstein, A. M., Gillanders, E. M., Boland, A., Galan, P., Elder, D. E., Gruis, N. A., Hayward, N. K., Lathrop, G. M., Barrett, J. H., & Newton Bishop, J. A.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2009-07-05
Volume
41
Issue
8
Pages
920-925
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.411
OpenAlex
W2070140741
Cited by
462
References
12
FWCI
26.73
Type
journal article
Language
en
Open access
green
Licence
www.springer.com/tdm (tdm)

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CoChat. (2026). Citation check: Genome-wide association study identifies three loci associated with melanoma risk. https://app.cochat.ai/papers/10.1038/ng.411
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Bishop, D. T., Demenais, F., Iles, M. M., Harland, M., Taylor, J. C., Corda, E., Randerson-Moor, J., Aitken, J. F., Avril, M.-F., Azizi, E., Bakker, B., Bianchi-Scarrà, G., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L. A., Chin-A-Woeng, T., Dębniak, T., Galore-Haskel, G., Ghiorzo, P., . . . Newton Bishop, J. A. (2009). Genome-wide association study identifies three loci associated with melanoma risk. Nature Genetics. https://doi.org/10.1038/ng.411

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