Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
(2015) In Nature Genetics 47(9). p.987-995- Abstract
- 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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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... (More)
- 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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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. (Less)
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- 2015
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- Nature Genetics
- volume
- 47
- issue
- 9
- pages
- 987 - 995
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- Nature Publishing Group
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- pmid:26237428
- wos:000360394100008
- scopus:84940734774
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- 1546-1718
- DOI
- 10.1038/ng.3373
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- English
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- dcdf882a-a40c-4b88-9de3-98e763b6453b (old id 7844862)
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@article{dcdf882a-a40c-4b88-9de3-98e763b6453b, abstract = {{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.}}, author = {{Law, Matthew H and Bishop, D Timothy and Lee, Jeffrey E and Brossard, Myriam and Martin, Nicholas G and Moses, Eric K and Song, Fengju and Barrett, Jennifer H and Kumar, Rajiv and Easton, Douglas F and Pharoah, Paul D P and Swerdlow, Anthony J and Kypreou, Katerina P and Taylor, John C and Harland, Mark and Randerson-Moor, Juliette and Akslen, Lars A and Andresen, Per A and Avril, Marie-Françoise and Azizi, Esther and Scarrà, Giovanna Bianchi and Brown, Kevin M and Dȩbniak, Tadeusz and Duffy, David L and Elder, David E and Fang, Shenying and Friedman, Eitan and Galan, Pilar and Ghiorzo, Paola and Gillanders, Elizabeth M and Goldstein, Alisa M and Gruis, Nelleke A and Hansson, Johan and Helsing, Per and Hočevar, Marko and Höiom, Veronica and Ingvar, Christian and Kanetsky, Peter A and Chen, Wei V and Landi, Maria Teresa and Lang, Julie and Lathrop, G Mark and Lubiński, Jan and Mackie, Rona M and Mann, Graham J and Molven, Anders and Montgomery, Grant W and Novaković, Srdjan and Olsson, Håkan and Puig, Susana and Puig-Butille, Joan Anton and Qureshi, Abrar A and Radford-Smith, Graham L and van der Stoep, Nienke and van Doorn, Remco and Whiteman, David C and Craig, Jamie E and Schadendorf, Dirk and Simms, Lisa A and Burdon, Kathryn P and Nyholt, Dale R and Pooley, Karen A and Orr, Nick and Stratigos, Alexander J and Cust, Anne E and Ward, Sarah V and Hayward, Nicholas K and Han, Jiali and Schulze, Hans-Joachim and Dunning, Alison M and Bishop, Julia A Newton and Demenais, Florence and Amos, Christopher I and MacGregor, Stuart and Iles, Mark M}}, issn = {{1546-1718}}, language = {{eng}}, number = {{9}}, pages = {{987--995}}, publisher = {{Nature Publishing Group}}, series = {{Nature Genetics}}, title = {{Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.}}, url = {{http://dx.doi.org/10.1038/ng.3373}}, doi = {{10.1038/ng.3373}}, volume = {{47}}, year = {{2015}}, }