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  • Bishop, D. Timothy (author)

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

  • Article/chapterEnglish2009

Publisher, publication year, extent ...

  • 2009-07-05
  • Springer Science and Business Media LLC,2009

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:4e219de2-0ff4-4388-a544-797f079b4eae
  • https://lup.lub.lu.se/record/1460440URI
  • https://doi.org/10.1038/ng.411DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:119133947URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Demenais, Florence (author)
  • Iles, Mark M. (author)
  • 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, JohanKarolinska Institutet (author)
  • Hocevar, Marko (author)
  • Hoiom, VeronicaKarolinska Institutet (author)
  • Hopper, John L. (author)
  • Ingvar, ChristianLund University,Lunds universitet,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)kir-cin (author)
  • 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, HåkanLund 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(Swepub:lu)onk-hol (author)
  • 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)
  • Karolinska InstitutetSektion V (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC41:8, s. 920-9251546-17181061-4036

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