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

Bishop, D.T. et al. (2009) Genome-wide association study identifies three loci associated with melanoma risk. Nature Genetics, 41(8), pp. 920-925. (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 times 10<sup>-7</sup>. Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 times 10<sup>-27</sup> for rs258322), 11q14-q21 encompassing TYR (P = 2.41 times 10<sup>-14</sup> for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 times 10<sup>-7</sup> 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.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Mackie, Professor Rona and Lang, Dr Julie
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., and Newton Bishop, J.A.
Subjects:R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
College/School:College of Medical Veterinary and Life Sciences
Journal Name:Nature Genetics
ISSN:1061-4036
ISSN (Online):1546-1718
Published Online:05 July 2009

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