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

Bishop, D. Timothy (author)
Demenais, Florence (author)
Iles, Mark M. (author)
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Harland, Mark (author)
Taylor, John C. (author)
Corda, Eve (author)
Randerson-Moor, Juliette (author)
Aitken, Joanne F. (author)
Avril, Marie-Francoise (author)
Azizi, Esther (author)
Bakker, Bert (author)
Bianchi-Scarra, Giovanna (author)
Bressac-de Paillerets, Brigitte (author)
Calista, Donato (author)
Cannon-Albright, Lisa A. (author)
Chin-A-Woeng, Thomas (author)
Debniak, Tadeusz (author)
Galore-Haskel, Gilli (author)
Ghiorzo, Paola (author)
Gut, Ivo (author)
Hansson, Johan (author)
Karolinska Institutet
Hocevar, Marko (author)
Hoiom, Veronica (author)
Karolinska Institutet
Hopper, John L. (author)
Ingvar, Christian (author)
Lund University,Lunds universitet,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
Kanetsky, Peter A. (author)
Kefford, Richard F. (author)
Landi, Maria Teresa (author)
Lang, Julie (author)
Lubinski, Jan (author)
Mackie, Rona (author)
Malvehy, Josep (author)
Mann, Graham J. (author)
Martin, Nicholas G. (author)
Montgomery, Grant W. (author)
van Nieuwpoort, Frans A. (author)
Novakovic, Srdjan (author)
Olsson, Håkan (author)
Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
Puig, Susana (author)
Weiss, Marjan (author)
van Workum, Wilbert (author)
Zelenika, Diana (author)
Brown, Kevin M. (author)
Goldstein, Alisa M. (author)
Gillanders, Elizabeth M. (author)
Boland, Anne (author)
Galan, Pilar (author)
Elder, David E. (author)
Gruis, Nelleke A. (author)
Hayward, Nicholas K. (author)
Lathrop, G. Mark (author)
Barrett, Jennifer H. (author)
Bishop, Julia A. Newton (author)
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 (creator_code:org_t)
2009-07-05
2009
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:8, s. 920-925
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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