A variant in FTO shows association with melanoma risk not due to BMI

Mark M. Iles, Matthew H. Law, Simon N. Stacey, Jiali Han, Shenying Fang, Ruth Pfeiffer, Mark Harland, Stuart Macgregor, John C. Taylor, Katja K. Aben, Lars A. Akslen, Marie-Françoise Avril, Esther Azizi, Bert Bakker, Kristrun R. Benediktsdottir, Wilma Bergman, Giovanna Bianchi Scarrà, Kevin M. Brown, Donato Calista, Valérie ChaudruMaria Concetta Fargnoli, Anne E. Cust, Florence Demenais, Anne C. De Waal, Tadeusz Dȩbniak, David E. Elder, Eitan Friedman, Pilar Galan, Paola Ghiorzo, Elizabeth M. Gillanders, Alisa M. Goldstein, Nelleke A. Gruis, Johan Hansson, Per Helsing, Marko Hočevar, Veronica Höiom, John L. Hopper, Christian Ingvar, Marjolein Janssen, Mark A. Jenkins, Peter A. Kanetsky, Lambertus A. Kiemeney, Julie Lang, G Mark Lathrop, Sancy Leachman, Jeffrey E. Lee, Jan Lubiński, Rona M. Mackie, Graham J. Mann, Nicholas G. Martin, Jose I. Mayordomo, Anders Molven, Suzanne Mulder, Eduardo Nagore, Srdjan Novaković, Ichiro Okamoto, Jon H. Olafsson, Håkan Olsson, Hubert Pehamberger, Ketty Peris, Maria Pilar Grasa, Dolores Planelles, Susana Puig, Joan Anton Puig-Butille, Juliette Randerson-Moor, Celia Requena, Licia Rivoltini, Monica Rodolfo, Mario Santinami, Bardur Sigurgeirsson, Helen Snowden, Fengju Song, Patrick Sulem, Kristin Thorisdottir, Rainer Tuominen, Patricia Van Belle, Nienke Van Der Stoep, Michelle M. Van Rossum, Qingyi Wei, Judith Wendt, Diana Zelenika, Mingfeng Zhang, Maria Teresa Landi, Gudmar Thorleifsson, D Timothy Bishop, Christopher I. Amos, Nicholas K. Hayward, Kari Stefansson, Julia A. Newton Bishop, Jennifer H. Barrett

Research output: Contribution to journalArticle

73 Citations (Scopus)


We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 × 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanoma-susceptibility locus, this is to our knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI). These SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI. This suggests FTO's function may be broader than the existing paradigm that FTO variants influence multiple traits only through their associations with BMI and obesity.
Original languageEnglish
Pages (from-to)428-428-32, 432e1
JournalNature Genetics
Publication statusPublished - 2013


  • Body Mass Index
  • Case-Control Studies
  • Cooperative Behavior
  • Female
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Melanoma
  • Meta-Analysis as Topic
  • Obesity
  • Polymorphism, Single Nucleotide
  • Proteins
  • Risk Factors


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