Genome-wide association study identifies three new melanoma susceptibility loci
| Autor: | Eitan Friedman, Shenying Fang, Jeffrey E. Lee, Esther Azizi, Marie-Françoise Avril, Douglas F. Easton, Julia A. Newton Bishop, Julie Lang, Elizabeth M. Gillanders, Juliette Randerson-Moor, Jan Lubinski, D. Timothy Bishop, Bruce K. Armstrong, Donato Calista, Florence Demenais, Joan Anton Puig-Butille, Anne E. Cust, Tadeusz Dȩbniak, Graham G. Giles, Grant W. Montgomery, Lorenza Pastorino, David C. Whiteman, Kevin M. Brown, Nicholas G. Martin, Diana Zelenika, Maria Teresa Landi, Jennifer H. Barrett, Veronica Höiom, Pilar Galan, Qingyi Wei, Johan Hansson, Lars A. Akslen, Bert Bakker, Brigitte Bressac-de Paillerets, Josep Malvehy, Rainer Tuominen, Wilma Bergman, Mark M. Iles, Stuart MacGregor, Jiali Han, Rona M. MacKie, Nicholas K. Hayward, Richard F. Kefford, Mark A. Jenkins, Christian Ingvar, Anders Molven, Graham J. Mann, Lisa A. Cannon-Albright, David E. Elder, Göran Jönsson, Joanne F. Aitken, Mark Harland, John L. Hopper, David L. Duffy, Eve Corda, Helen Snowden, Peter A. Kanetsky, Alisa M. Goldstein, Alison M. Dunning, John C. Taylor, Giorgio Landi, Håkan Olsson, Paola Ghiorzo, Nienke van der Stoep, Bart Janssen, Per Arne Andresen, Susana Puig, Nelleke A. Gruis, Marko Hočevar, Frans A. van Nieuwpoort, Srdjan Novaković, G. Mark Lathrop, Patricia Van Belle, Giovanna Bianchi-Scarrà, Christopher I. Amos |
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| Přispěvatelé: | St. James's University Hospital, Cancer Council, Partenaires INRAE, Oslo University Hospital [Oslo], University of Bergen (UiB), Haukeland University Hospital, The Westmead Institute for Medical Research, Université Paris Descartes - Paris 5 (UPD5), Sheba Med Ctr, Tel Aviv University [Tel Aviv], Leiden University, University of Genoa (UNIGE), Fdn Jean Daussel CEPH, Institut Gustave Roussy (IGR), Département de biologie et pathologie médicales [Gustave Roussy], Maurizio Bufalini Hosp, University of Utah, University of Melbourne, University of Sydney, Pomeranian Med Univ, Unité de Recherche en Epidémiologie Nutritionnelle (UREN), Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Wellcome Trust [076113], European Commission [LSHC-CT-2006-018702], Cancer Research UK [C588/A4994, C588/A10589, C8216/A6129], US National Institutes of Health (NIH) [CA83115], NIH, National Cancer Institute (NCI), Division of Cancer Epidemiology and Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Skin Neoplasms
NEVI [SDV]Life Sciences [q-bio] PHENOTYPIC CHARACTERISTICS Genome-wide association study Single-nucleotide polymorphism Locus (genetics) Biology Polymorphism Single Nucleotide Article Genètica mèdica 03 medical and health sciences 0302 clinical medicine Genetics medicine SEQUENCE VARIANTS Skin cancer Nevus SNP Humans Genetic Predisposition to Disease Gene Melanoma Càncer de pell METAANALYSIS POPULATION 030304 developmental biology RISK 0303 health sciences CUTANEOUS MALIGNANT-MELANOMA Medical genetics Case-control study WOMEN medicine.disease GENE CANCER 030220 oncology & carcinogenesis Case-Control Studies Cutaneous melanoma Genome-Wide Association Study |
| Zdroj: | Nature genetics Nature Genetics, 43(11), 1108-U98 Nature Genetics Nature Genetics, Nature Publishing Group, 2011, 43 (11), pp.1108-U98. ⟨10.1038/ng.959⟩ Dipòsit Digital de la UB Universidad de Barcelona |
| ISSN: | 1546-1718 1061-4036 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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