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Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma


Law, MH and Bishop, DT and Lee, JE and Brossard, M and Martin, NG and Moses, EK and Song, F and Barrett, JH and Kumar, R and Easton, DF and Pharoah, PD and Swerdlow, AJ and Kypreou, KP and Taylor, JC and Harland, M and Randerson-Moor, J and Akslen, LA and Andresen, PA and Avril, MF and Azizi, E and Scarra, GB and Brown, KM and Debniak, T and Duffy, DL and Elder, DE and Fang, S and Friedman, E and Galan, P and Ghiorzo, P and Gillanders, EM and Goldstein, AM and Gruis, NA and Hansson, J and Helsing, P and Hocevar, M and Hoiom, V and Ingvar, C and Kanetsky, PA and Chen, WV and Landi, MT and Lang, J and Lathrop, GM and Lubinski, J and Mackie, RM and Mann, GJ and Molven, A and Montgomery, GW and Novakovic, S and Olsson, H and Puig, S and Puig-Butille, JA and Qureshi, AA and Radford-Smith, GL and van der Stoep, N and van Doorn, R and Whiteman, DC and Craig, JE and Schadendorf, D and Simms, LA and Burdon, KP and Nyholt, DR and Pooley, KA and Orr, N and Stratigos, AJ and Cust, AE and Ward, SV and Hayward, NK and Han, J and Schulze, HJ and Dunning, AM and Bishop, JA and Demenais, F and Amos, CI and MacGregor, S and Iles, MM, GenoMEL Consortium; Essen-Heidelberg Investigators; SDH Study Group; Q-MEGA and QTWIN Investigators; AMFS Investigators; ATHENS Melanoma Study Group, Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma, Nature Genetics, 47, (9) pp. 987-995. ISSN 1061-4036 (2015) [Refereed Article]

Copyright Statement

Copyright 2015 Nature America, Inc.

DOI: doi:10.1038/ng.3373


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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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 10−8), 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.

Item Details

Item Type:Refereed Article
Keywords:genetics research, genome-wide association studies, melanoma
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:102225
Year Published:2015
Web of Science® Times Cited:161
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-08-05
Last Modified:2017-11-06

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