Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
- 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
DOIAbstract
© 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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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 -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 candi...
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