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

AMFS Investigators, ATHENS Melanoma Study Group, GenoMEL Consortium, Essen-Heidelberg Investigators, The SDH Study Group, Q-MEGA and QTWIN Investigators

Research output: Contribution to journalArticlepeer-review

201 Scopus citations

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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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

Original languageEnglish
Pages (from-to)987-995
Number of pages9
JournalNature Genetics
Volume47
Issue number9
DOIs
StatePublished - 27 Aug 2015

Funding

FundersFunder number
National Institutes of HealthUL1TR001108
National Cancer InstituteP30CA023108, R01CA133996, R01CA083115, R01CA122838, R03CA167741, R01CA088363, R01CA100264, P50CA093459
National Center for Advancing Translational SciencesUL1TR001108, UL1TR002529
Medical Research CouncilMR/L01629X/1
European Commission294576

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