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Title: A variant in FTO shows association with melanoma risk not due to BMI.
Authors: Iles MM,  Law MH,  Stacey SN,  Han J,  Fang S,  Pfeiffer R,  Harland M,  Macgregor S,  Taylor JC,  Aben KK,  Akslen LA,  Avril MF,  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 JA,  Barrett JH,  GenoMEL Consortium,  Q-MEGA and AMFS Investigators
Journal: Nat Genet
Date: 2013 Apr
Branches: BB, ITEB, LTG
PubMed ID: 23455637
PMC ID: PMC3640814
Abstract: 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.