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

Matthew H Law, D Timothy Bishop, Jeffrey E Lee, Myriam Brossard, Nicholas G Martin, Eric K Moses, Fengju Song, Jennifer H Barrett, Rajiv Kumar, Douglas F Easton, Nicholas Orr

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125 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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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
Number of pages987
JournalNature Genetics
Volume47
DOIs
Publication statusPublished - Aug 2015

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    Law, M. H., Bishop, D. T., Lee, J. E., Brossard, M., Martin, N. G., Moses, E. K., Song, F., Barrett, J. H., Kumar, R., Easton, D. F., & Orr, N. (2015). Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genetics, 47. https://doi.org/10.1038/ng.3373