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


Type

Article

Change log

Authors

Law, Matthew H 
Bishop, D Timothy 
Lee, Jeffrey E 
Brossard, Myriam 
Martin, Nicholas G 

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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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

Description

Keywords

Case-Control Studies, Chromosomes, Human, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Melanoma, Polymorphism, Single Nucleotide, Skin Neoplasms, Melanoma, Cutaneous Malignant

Journal Title

Nat Genet

Conference Name

Journal ISSN

1061-4036
1546-1718

Volume Title

47

Publisher

Springer Science and Business Media LLC
Sponsorship
Cancer Research Uk (None)
Cancer Research UK (16565)
Isaac Newton Trust (1307 (k))
[Please see the Supplementary Note for acknowledgments.]