title: Genome-wide association study identifies three new melanoma susceptibility loci.
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.
authors: Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James’s University Hospital, Leeds, UK.
authors: Jennifer H
authors: JH
authors: Barrett
authors: Mark M
authors: MM
authors: Iles
authors: Mark
authors: M
authors: Harland
authors: John C
authors: JC
authors: Taylor
authors: Joanne F
authors: JF
authors: Aitken
authors: Per Arne
authors: PA
authors: Andresen
authors: Lars A
authors: LA
authors: Akslen
authors: Bruce K
authors: BK
authors: Armstrong
authors: Marie-Francoise
authors: MF
authors: Avril
authors: Esther
authors: E
authors: Azizi
authors: Bert
authors: B
authors: Bakker
authors: Wilma
authors: W
authors: Bergman
authors: Giovanna
authors: G
authors: Bianchi-Scarrà
authors: Brigitte
authors: B
authors: Bressac-de Paillerets
authors: Donato
authors: D
authors: Calista
authors: Lisa A
authors: LA
authors: Cannon-Albright
authors: Eve
authors: E
authors: Corda
authors: Anne E
authors: AE
authors: Cust
authors: Tadeusz
authors: T
authors: Dębniak
authors: David
authors: D
authors: Duffy
authors: Alison M
authors: AM
authors: Dunning
authors: Douglas F
authors: DF
authors: Easton
authors: Eitan
authors: E
authors: Friedman
authors: Pilar
authors: P
authors: Galan
authors: Paola
authors: P
authors: Ghiorzo
authors: Graham G
authors: GG
authors: Giles
authors: Johan
authors: J
authors: Hansson
authors: Marko
authors: M
authors: Hocevar
authors: Veronica
authors: V
authors: Höiom
authors: John L
authors: JL
authors: Hopper
authors: Christian
authors: C
authors: Ingvar
authors: Bart
authors: B
authors: Janssen
authors: Mark A
authors: MA
authors: Jenkins
authors: Göran
authors: G
authors: Jönsson
authors: Richard F
authors: RF
authors: Kefford
authors: Giorgio
authors: G
authors: Landi
authors: Maria Teresa
authors: MT
authors: Landi
authors: Julie
authors: J
authors: Lang
authors: Jan
authors: J
authors: Lubiński
authors: Rona
authors: R
authors: Mackie
authors: Josep
authors: J
authors: Malvehy
authors: Nicholas G
authors: NG
authors: Martin
authors: Anders
authors: A
authors: Molven
authors: Grant W
authors: GW
authors: Montgomery
authors: Frans A
authors: FA
authors: van Nieuwpoort
authors: Srdjan
authors: S
authors: Novakovic
authors: Håkan
authors: H
authors: Olsson
authors: Lorenza
authors: L
authors: Pastorino
authors: Susana
authors: S
authors: Puig
authors: Joan Anton
authors: JA
authors: Puig-Butille
authors: Juliette
authors: J
authors: Randerson-Moor
authors: Helen
authors: H
authors: Snowden
authors: Rainer
authors: R
authors: Tuominen
authors: Patricia
authors: P
authors: Van Belle
authors: Nienke
authors: N
authors: van der Stoep
authors: David C
authors: DC
authors: Whiteman
authors: Diana
authors: D
authors: Zelenika
authors: Jiali
authors: J
authors: Han
authors: Shenying
authors: S
authors: Fang
authors: Jeffrey E
authors: JE
authors: Lee
authors: Qingyi
authors: Q
authors: Wei
authors: G Mark
authors: GM
authors: Lathrop
authors: Elizabeth M
authors: EM
authors: Gillanders
authors: Kevin M
authors: KM
authors: Brown
authors: Alisa M
authors: AM
authors: Goldstein
authors: Peter A
authors: PA
authors: Kanetsky
authors: Graham J
authors: GJ
authors: Mann
authors: Stuart
authors: S
authors: Macgregor
authors: David E
authors: DE
authors: Elder
authors: Christopher I
authors: CI
authors: Amos
authors: Nicholas K
authors: NK
authors: Hayward
authors: Nelleke A
authors: NA
authors: Gruis
authors: Florence
authors: F
authors: Demenais
authors: Julia A Newton
authors: JA
authors: Bishop
authors: D Timothy
authors: DT
authors: Bishop
mesh_terms: D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012878:Skin Neoplasms / Q000235:genetics*