Genome-wide association study identifies three new melanoma susceptibility loci

Research output: Contribution to journalArticle


We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 x 10(-9)), an SNP in MX2 (rs45430, P = 2.9 x 10-9) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 x 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 x 10(-7) under a fixed-effects model and P = 1.2 x 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.


  • Jennifer H. Barrett
  • Mark M. Iles
  • Mark Harland
  • John C. Taylor
  • Joanne F. Aitken
  • Per Arne Andresen
  • Lars A. Akslen
  • Bruce K. Armstrong
  • Marie-Francoise Avril
  • Esther Azizi
  • Bert Bakker
  • Wilma Bergman
  • Giovanna Bianchi-Scarra
  • Brigitte Bressac-de Paillerets
  • Donato Calista
  • Lisa A. Cannon-Albright
  • Eve Corda
  • Anne E. Cust
  • Tadeusz Debniak
  • David Duffy
  • Alison M. Dunning
  • Douglas F. Easton
  • Eitan Friedman
  • Pilar Galan
  • Paola Ghiorzo
  • Graham G. Giles
  • Johan Hansson
  • Marko Hocevar
  • Veronica Hoeiom
  • John L. Hopper
  • Bart Janssen
  • Mark A. Jenkins
  • Richard F. Kefford
  • Giorgio Landi
  • Maria Teresa Landi
  • Julie Lang
  • Jan Lubinski
  • Rona Mackie
  • Josep Malvehy
  • Nicholas G. Martin
  • Anders Molven
  • Grant W. Montgomery
  • Frans A. van Nieuwpoort
  • Srdjan Novakovic
  • Lorenza Pastorino
  • Susana Puig
  • Joan Anton Puig-Butille
  • Juliette Randerson-Moor
  • Helen Snowden
  • Rainer Tuominen
  • Patricia VanBelle
  • Nienke van der Stoep
  • David C. Whiteman
  • Diana Zelenika
  • Jiali Han
  • Shenying Fang
  • Jeffrey E. Lee
  • Qingyi Wei
  • G. Mark Lathrop
  • Elizabeth M. Gillanders
  • Kevin M. Brown
  • Alisa M. Goldstein
  • Peter A. Kanetsky
  • Graham J. Mann
  • Stuart MacGregor
  • David E. Elder
  • Christopher I. Amos
  • Nicholas K. Hayward
  • Nelleke A. Gruis
  • Florence Demenais
  • Julia A. Newton Bishop
  • D. Timothy Bishop
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Surgery
  • Cancer and Oncology
Original languageEnglish
Pages (from-to)1108-1113
JournalNature Genetics
Issue number11
Publication statusPublished - 2011
Publication categoryResearch