Please use this identifier to cite or link to this item:
Title: Genome-wide association study identifies three new melanoma susceptibility loci
Author: Barrett, Jennifer H.
Iles, Mark M.
Harland, Mark
Taylor, John C.
Aitken, Joanne F.
Andresen, Per Arne
Akslen, Lars A.
Armstrong, Bruce K.
Avril, Marie F.
Azizi, Esther
Bakker, Bert
Bergman, Wilma
Bianchi-Scarrà, Giovanna
Bressac-de Paillerets, Brigitte
Calista, Donato
Cannon-Albright, Lisa A.
Corda, Eve
Cust, Anne E.
Debniak, Tadeusz
Duffy, David
Dunning, Alison M.
Easton, Douglas F.
Friedman, Eitan
Galan, Pilar
Ghiorzo, Paola
Giles, Graham G.
Hansson, Johan
Hocevar, Marko
Höiom, Veronica
Hopper, John L.
Ingvar, Christian
Janssen, Bart
Jenkins, Mark A.
Jönsson, Göran
Kefford, Richard F.
Landi, Giorgio
Landi, Maria Teresa
Lang, Julie
Lubinski, Jan
Mackie, Rona
Malvehy, J. (Josep)
Martin, Nicholas G.
Molven, Anders
Montgomery, Grant W.
Nieuwpoort, Frans A. van
Novakovic, Srdjan
Olsson, Hakan
Pastorino, Lorenza
Puig i Sardà, Susana
Puig Butillé, Joan Anton
Randerson-Moor, Juliette
Snowden, Helen
Tuominen, Raider
Belle, Patricia van
Stoep, Nienke van der
Whiteman, David C.
Zelenika, Diana
Han, Jiali
Fang, Shenying
Lee, Jeffrey E.
Wei, Qingyi
Lathrop, G. Mark
Gillanders, Elizabeth M.
Brown, Kevin M.
Goldstein, Alisa M.
Kanetsky, Peter A.
Mann, Graham J.
MacGregor, Stuart
Elder, David E.
Amos, Christopher I.
Hayward, Nicholas K.
Gruis, Nelleke A.
Demenais, Florence
Newton-Bishop, Julia
Bishop, D. Timothy
GenoMEL Consortium
Keywords: Melanoma
Genètica mèdica
Càncer de pell
Medical genetics
Skin cancer
Issue Date: 9-Oct-2011
Publisher: Nature Publishing Group
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.
Note: Versió postprint del document publicat a:
It is part of: Nature Genetics, 2011, vol. 43, num. 11, p. 1008-1113
Related resource:
ISSN: 1061-4036
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Fonaments Clínics)
Articles publicats en revistes (Medicina)

Files in This Item:
File Description SizeFormat 
636619.pdf424.66 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.