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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Iles, MM; Law, MH; Stacey, SN; Han, J; Fang, S; Pfeiffer, R; Harland, M; Macgregor, S; Taylor, JC; Aben, KK; Akslen, LA; Avril, M-F; Azizi, E; Bakker, B; Benediktsdottir, KR; Bergman, W; Scarrà, GB; Brown, KM; Calista, D; Chaudru, V; Fargnoli, MC; Cust, AE; Demenais, F; de Waal, AC; Dębniak, T; Elder, DE; Friedman, E; Galan, P; Ghiorzo, P; Gillanders, EM; Goldstein, AM; Gruis, NA; Hansson, J; Helsing, P; Hočevar, M; Höiom, V; Hopper, JL; Ingvar, C; Janssen, M; Jenkins, MA; Kanetsky, PA; Kiemeney, LA; Lang, J; Lathrop, GM; Leachman, S; Lee, JE; Lubiński, J; Mackie, RM; Mann, GJ; Martin, NG; Mayordomo, JI; Molven, A; Mulder, S; Nagore, E; Novaković, S; Okamoto, I; Olafsson, JH; Olsson, H; Pehamberger, H; Peris, K; Grasa, MP; Planelles, D; Puig, S; Puig-Butille, JA; Randerson-Moor, J; Requena, C; Rivoltini, L; Rodolfo, M; Santinami, M; Sigurgeirsson, B; Snowden, H; Song, F; Sulem, P; Thorisdottir, K; Tuominen, R; Van Belle, P; van der Stoep, N; van Rossum, MM; Wei, Q; Wendt, J; Zelenika, D; Zhang, M; Landi, MT; Thorleifsson, G; Bishop, DT; Amos, CI; Hayward, NK; Stefansson, K; Bishop, JAN; Barrett, JH; GenoMEL Consortium, ; Q-MEGA and AMFS Investigators,

Published Date

  • April 2013

Published In

Volume / Issue

  • 45 / 4

Start / End Page

  • 428 - 432e1

PubMed ID

  • 23455637

Pubmed Central ID

  • 23455637

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.2571


  • eng

Conference Location

  • United States