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Title: Genome-wide association study identifies three new melanoma susceptibility loci.
Authors: Barrett JH,  Iles MM,  Harland M,  Taylor JC,  Aitken JF,  Andresen PA,  Akslen LA,  Armstrong BK,  Avril MF,  Azizi E,  Bakker B,  Bergman W,  Bianchi-Scarrà G,  Bressac-de Paillerets B,  Calista D,  Cannon-Albright LA,  Corda E,  Cust AE,  Dębniak T,  Duffy D,  Dunning AM,  Easton DF,  Friedman E,  Galan P,  Ghiorzo P,  Giles GG,  Hansson J,  Hocevar M,  Höiom V,  Hopper JL,  Ingvar C,  Janssen B,  Jenkins MA,  Jönsson G,  Kefford RF,  Landi G,  Landi MT,  Lang J,  Lubiński J,  Mackie R,  Malvehy J,  Martin NG,  Molven A,  Montgomery GW,  van Nieuwpoort FA,  Novakovic S,  Olsson H,  Pastorino L,  Puig S,  Puig-Butille JA,  Randerson-Moor J,  Snowden H,  Tuominen R,  Van Belle P,  van der Stoep N,  Whiteman DC,  Zelenika D,  Han J,  Fang S,  Lee JE,  Wei Q,  Lathrop GM,  Gillanders EM,  Brown KM,  Goldstein AM,  Kanetsky PA,  Mann GJ,  Macgregor S,  Elder DE,  Amos CI,  Hayward NK,  Gruis NA,  Demenais F,  Bishop JA,  Bishop DT,  GenoMEL Consortium
Journal: Nat Genet
Date: 2011 Nov
Branches: GEB, LTG
PubMed ID: 21983787
PMC ID: PMC3251256
Abstract: We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 × 10(-9)), an SNP in MX2 (rs45430, P = 2.9 × 10(-9)) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.