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Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
| File | Description | Size | Format | |
|---|---|---|---|---|
 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.pdf | Accepted version | 1.31 MB | Adobe PDF | View/Open |
| Title: | Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma |
| Authors: | Law, MH Bishop, DT Lee, JE Brossard, M Martin, NG Moses, EK Song, F Barrett, JH Kumar, R Easton, DF Pharoah, PD Swerdlow, AJ Kypreou, KP Taylor, JC Harland, M Randerson-Moor, J Akslen, LA Andresen, PA Avril, MF Azizi, E Scarrà, GB Brown, KM Dȩbniak, T Duffy, DL Elder, DE Fang, S Friedman, E Galan, P Ghiorzo, P Gillanders, EM Goldstein, AM Gruis, NA Hansson, J Helsing, P Hočevar, M Höiom, V Ingvar, C Kanetsky, PA Chen, WV GenoMEL Consortium Essen-Heidelberg Investigators SDH Study Group Q-MEGA and QTWIN Investigators AMFS Investigators ATHENS Melanoma Study Group Landi, MT Lang, J Lathrop, GM Lubiński, J Mackie, RM Mann, GJ Molven, A Montgomery, GW Novaković, S Olsson, H Puig, S Puig-Butille, JA Qureshi, AA Radford-Smith, GL Van der Stoep, N Van Doorn, R Whiteman, DC Craig, JE Schadendorf, D Simms, LA Burdon, KP Nyholt, DR Pooley, KA Orr, N Stratigos, AJ Cust, AE Ward, SV Hayward, NK Han, J Schulze, HJ Dunning, AM Bishop, JA Demenais, F Amos, CI MacGregor, S Iles, MM |
| Item Type: | Journal Article |
| Abstract: | © 2015 Nature America, Inc. All rights reserved.Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10<sup>-8</sup>), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology. |
| Issue Date: | 3-Aug-2015 |
| Date of Acceptance: | 9-Jul-2015 |
| URI: | http://hdl.handle.net/10044/1/38509 |
| DOI: | https://dx.doi.org/10.1038/ng.3373 |
| ISSN: | 1546-1718 |
| Publisher: | Nature Publishing Group |
| Start Page: | 987 |
| End Page: | 995 |
| Journal / Book Title: | Nature Genetics |
| Volume: | 47 |
| Issue: | 9 |
| Copyright Statement: | © 2015 Nature America, Inc. All rights reserved. |
| Keywords: | Case-Control Studies Chromosomes, Human Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Melanoma Polymorphism, Single Nucleotide Skin Neoplasms GenoMEL Consortium Essen-Heidelberg Investigators SDH Study Group Q-MEGA and QTWIN Investigators AMFS Investigators ATHENS Melanoma Study Group Developmental Biology 11 Medical And Health Sciences 06 Biological Sciences |
| Publication Status: | Published |
| Conference Place: | United States |
| Appears in Collections: | National Heart and Lung Institute |