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


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.

DOI: 10.1038/ng.2571

Extracted Key Phrases

2 Figures and Tables

Citations per Year

177 Citations

Semantic Scholar estimates that this publication has 177 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Iles2013AVI, title={A variant in FTO shows association with melanoma risk not due to BMI.}, author={Mark M. Iles and Matthew H Law and Simon N. Stacey and Jiali Han and Shenying Fang and Ruth M. Pfeiffer and Mark Harland and Stuart MacGregor and John C. Taylor and Katja K. H. Aben and Lars Andreas Akslen and Marie-Françoise M Avril and Esther Azizi and Bert N. Bakker and Kristrun R. Benediktsdottir and Wilma Bergman and Giovanna Bianchi Scarr{\`a} and Kevin M Brown and Donato Calista and Val{\'e}rie Chaudru and Maria Concetta Fargnoli and Anne E. Cust and Florence Demenais and Anne C de Waal and Tadeusz Dȩbniak and David E. Elder and Eitan Friedman and Pilar Galan and Paola Ghiorzo and Elizabeth Gillanders and Alisa M. Goldstein and Nelleke A. Gruis and Johan Hansson and Per Helsing and Marko Hocevar and Veronica H{\"{o}iom and John L. Hopper and Christian Ingvar and Marjolein Janssen and Mark Jenkins and Peter A. Kanetsky and Lambertus A Kiemeney and Julie M Lang and G. M. Lathrop and Sancy A. Leachman and Jeffrey E. Lee and Jan Lubiński and Rona M. MacKie and Graham J. Mann and Nicholas G. Martin and Jos{\'e} Ignacio Mayordomo and Anders Molven and Suzanne Mulder and Eduardo Nagore and Srdjan Novakovic and Ichiro Okamoto and J{\'o}n Hjaltal{\'i}n {\'O}lafsson and H{\aa}kan Olsson and Hubert Pehamberger and Ketty Peris and Mar{\'i}a Pilar Grasa and Dolores Planelles and Susana Puig and Joan Anton Puig-Butill{\'e} and Juliette A Randerson-Moor and Celia Requena and Licia Rivoltini and Monica Rodolfo and Mario Santinami and B{\'a}rður Sigurgeirsson and Helen Snowden and Fengju Song and Patrick Sulem and Kristin Thorisdottir and Rainer Tuominen and Patricia A Van Belle and Nienke van der Stoep and Michelle M. van Rossum and Qingyi Wei and Judith Wendt and Diana Z{\'e}l{\'e}nika and Mingfeng Zhang and Maria Teresa Landi and Gudmar Thorleifsson and David T Bishop and Christopher I. Amos and Nicholas Kim Hayward and K{\'a}ri Stef{\'a}nsson and Julia A. Newton Bishop and Jennifer H. Barrett}, journal={Nature genetics}, year={2013}, volume={45 4}, pages={428-32, 432e1} }