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

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

Research output: Contribution to journalArticle

95 Citations (Scopus)

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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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 (US)
Pages (from-to)987-995
Number of pages9
JournalNature Genetics
Volume47
Issue number9
DOIs
StatePublished - Aug 27 2015

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Meta-Analysis
Genome
Genome-Wide Association Study
Quantitative Trait Loci
Melanocytes
Telomere
Computational Biology
Single Nucleotide Polymorphism
Cutaneous Malignant Melanoma
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

GenoMEL Consortium, Essen-Heidelberg Investigators, The SDH Study Group, Q-MEGA and QTWIN Investigators, AMFS Investigators, & ATHENS Melanoma Study Group (2015). Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genetics, 47(9), 987-995. https://doi.org/10.1038/ng.3373

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. / GenoMEL Consortium; Essen-Heidelberg Investigators; The SDH Study Group; Q-MEGA and QTWIN Investigators; AMFS Investigators; ATHENS Melanoma Study Group.

In: Nature Genetics, Vol. 47, No. 9, 27.08.2015, p. 987-995.

Research output: Contribution to journalArticle

GenoMEL Consortium, Essen-Heidelberg Investigators, The SDH Study Group, Q-MEGA and QTWIN Investigators, AMFS Investigators & ATHENS Melanoma Study Group 2015, 'Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma', Nature Genetics, vol. 47, no. 9, pp. 987-995. https://doi.org/10.1038/ng.3373
GenoMEL Consortium, Essen-Heidelberg Investigators, The 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. 2015 Aug 27;47(9):987-995. https://doi.org/10.1038/ng.3373
GenoMEL Consortium ; Essen-Heidelberg Investigators ; The 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. In: Nature Genetics. 2015 ; Vol. 47, No. 9. pp. 987-995.
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