Common sequence variants on 20q11.22 confer melanoma susceptibility

Kevin M. Brown, Stuart MacGregor, Grant W. Montgomery, David W. Craig, Zhen Zhen Zhao, Kelly Iyadurai, Anjali K Henders, Nils Homer, Megan J. Campbell, Mitchell Stark, Shane Thomas, Helen Schmid, Elizabeth A. Holland, Elizabeth M. Gillanders, David L. Duffy, Judith A. Maskiell, Jodie Jetann, Megan Ferguson, Dietrich A. Stephan, Anne E. CustDavid Whiteman, Adele Green, Håkan Olsson, Susana Puig, Paola Ghiorzo, Johan Hansson, Florence Demenais, Alisa M. Goldstein, Nelleke A. Gruis, David E. Elder, Julia Newton Bishop, Richard F. Kefford, Graham G. Giles, Bruce K. Armstrong, Joanne F. Aitken, John L. Hopper, Nicholas G. Martin, Jeffrey M. Trent, Graham J. Mann, Nicholas K. Hayward

Research output: Contribution to journalArticlepeer-review


We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P <1 × 10-15). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.

Original languageEnglish
Pages (from-to)838-840
Number of pages3
JournalNature Genetics
Issue number7
Publication statusPublished - Jul 2008

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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