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Title: Genome-wide association study identifies three loci associated with melanoma risk.
Authors: Bishop DT,  Demenais F,  Iles MM,  Harland M,  Taylor JC,  Corda E,  Randerson-Moor J,  Aitken JF,  Avril MF,  Azizi E,  Bakker B,  Bianchi-Scarrà G,  Bressac-de Paillerets B,  Calista D,  Cannon-Albright LA,  Chin-A-Woeng T,  Debniak T,  Galore-Haskel G,  Ghiorzo P,  Gut I,  Hansson J,  Hocevar M,  Höiom V,  Hopper JL,  Ingvar C,  Kanetsky PA,  Kefford RF,  Landi MT,  Lang J,  Lubiński J,  Mackie R,  Malvehy J,  Mann GJ,  Martin NG,  Montgomery GW,  van Nieuwpoort FA,  Novakovic S,  Olsson H,  Puig S,  Weiss M,  van Workum W,  Zelenika D,  Brown KM,  Goldstein AM,  Gillanders EM,  Boland A,  Galan P,  Elder DE,  Gruis NA,  Hayward NK,  Lathrop GM,  Barrett JH,  Bishop JA
Journal: Nat Genet
Date: 2009 Aug
Branches: GEB
PubMed ID: 19578364
PMC ID: PMC2741419
Abstract: We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 10(-7) for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.