Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
Author(s)
Type
Journal Article
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 This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls.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.
Date Issued
2015-08-03
Date Acceptance
2015-07-09
Citation
Nature Genetics, 2015, 47 (9), pp.987-995
ISSN
1546-1718
Publisher
Nature Publishing Group
Start Page
987
End Page
995
Journal / Book Title
Nature Genetics
Volume
47
Issue
9
Copyright Statement
© 2015 Nature America, Inc. All rights reserved.
Identifier
http://www.ncbi.nlm.nih.gov/pubmed/26237428
PII: ng.3373
Subjects
Case-Control Studies
Chromosomes, Human
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Melanoma
Polymorphism, Single Nucleotide
Skin Neoplasms
GenoMEL Consortium
Essen-Heidelberg Investigators
SDH Study Group
Q-MEGA and QTWIN Investigators
AMFS Investigators
ATHENS Melanoma Study Group
Developmental Biology
11 Medical And Health Sciences
06 Biological Sciences
Publication Status
Published
Coverage Spatial
United States