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

作者：Iles, Mark M.; Law, Matthew H.; Stacey, Simon N.; Han, Jiali; Fang, Shenying; Pfeiffer, Ruth; Harland, Mark; MacGregor, Stuart; Taylor, John C.; Aben, Katja K.; Akslen, Lars A.; Avril, Marie-Francoise; Azizi, Esther; Bakker, Bert; Benediktsdottir, Kristrun R.; Bergman, Wilma; Scarra, Giovanna Bianchi; Brown, Kevin M.; Calista, Donato; Chaudru, Valerie; Fargnoli, Maria Concetta; Cust, Anne E.; Demenais, Florence; Waal, Anne C. de; Debniak, Tadeusz; Elder, David E.; Friedman, Eitan; Galan, Pilar

来源：Nature Genetics, 2013, 45(4): 428-432.

DOI：10.1038/ng.2571

• GENOME-WIDE ASSOCIATION
• BODY-MASS INDEX
• CUTANEOUS MELANOMA
• PHENOTYPIC CHARACTERISTICS
• SUSCEPTIBILITY LOCI
• IDENTIFIES 3
• GENE
• OBESITY
• METAANALYSIS
• PREDISPOSES

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 x 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanomasusceptibility 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.

• 出版日期2013-4
• 单位天津医科大学; NIH; 河北医科大学