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The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis.

Original publication

DOI

10.1038/s41467-018-06649-5

Type

Journal article

Journal

Nature communications

Publication Date

14/11/2018

Volume

9

Addresses

QIMR Berghofer Medical Research Institute, Brisbane, Australia. David.Duffy@qimrberghofer.edu.au.

Keywords

Melanoma GWAS Consortium, Humans, Melanoma, Nevus, Pigmented, Skin Neoplasms, Genetic Predisposition to Disease, Microfilament Proteins, Histone Deacetylases, Telomerase, Guanine Nucleotide Exchange Factors, Carrier Proteins, Telomere-Binding Proteins, Receptors, G-Protein-Coupled, Nerve Tissue Proteins, Nuclear Proteins, Repressor Proteins, MicroRNAs, RNA, Stem Cell Factor, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Interferon Regulatory Factors, Group VI Phospholipases A2, Genome-Wide Association Study, Genetic Pleiotropy, Cytochrome P-450 CYP1B1