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

Bishop, D. Timothy; Demenais, Florence; Iles, Mark M.; Harland, Mark; Taylor, John C.; Corda, Eve; Randerson-Moor, Juliette; Aitken, Joanne F.; Avril, Marie-Francoise and Azizi, Esther, et al. (2009) In Nature Genetics 41(8). p.85-920
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 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,... (More)
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. (Less)
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Nature Genetics
volume
41
issue
8
pages
85 - 920
publisher
Nature Publishing Group
external identifiers
  • wos:000268432900018
  • scopus:68149179663
ISSN
1546-1718
DOI
10.1038/ng.411
language
English
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yes
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4e219de2-0ff4-4388-a544-797f079b4eae (old id 1460440)
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2009-08-31 10:40:41
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2017-11-12 03:41:20
@article{4e219de2-0ff4-4388-a544-797f079b4eae,
  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 &lt; 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.},
  author       = {Bishop, D. Timothy and Demenais, Florence and Iles, Mark M. and Harland, Mark and Taylor, John C. and Corda, Eve and Randerson-Moor, Juliette and Aitken, Joanne F. and Avril, Marie-Francoise and Azizi, Esther and Bakker, Bert and Bianchi-Scarra, Giovanna and Bressac-de Paillerets, Brigitte and Calista, Donato and Cannon-Albright, Lisa A. and Chin-A-Woeng, Thomas and Debniak, Tadeusz and Galore-Haskel, Gilli and Ghiorzo, Paola and Gut, Ivo and Hansson, Johan and Hocevar, Marko and Hoiom, Veronica and Hopper, John L. and Ingvar, Christian and Kanetsky, Peter A. and Kefford, Richard F. and Landi, Maria Teresa and Lang, Julie and Lubinski, Jan and Mackie, Rona and Malvehy, Josep and Mann, Graham J. and Martin, Nicholas G. and Montgomery, Grant W. and van Nieuwpoort, Frans A. and Novakovic, Srdjan and Olsson, Håkan and Puig, Susana and Weiss, Marjan and van Workum, Wilbert and Zelenika, Diana and Brown, Kevin M. and Goldstein, Alisa M. and Gillanders, Elizabeth M. and Boland, Anne and Galan, Pilar and Elder, David E. and Gruis, Nelleke A. and Hayward, Nicholas K. and Lathrop, G. Mark and Barrett, Jennifer H. and Bishop, Julia A. Newton},
  issn         = {1546-1718},
  language     = {eng},
  number       = {8},
  pages        = {85--920},
  publisher    = {Nature Publishing Group},
  series       = {Nature Genetics},
  title        = {Genome-wide association study identifies three loci associated with melanoma risk},
  url          = {http://dx.doi.org/10.1038/ng.411},
  volume       = {41},
  year         = {2009},
}