Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma Leonie Roos, Johanna K. Sandling, Christopher.

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Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma Leonie Roos, Johanna K. Sandling, Christopher G. Bell, Daniel Glass, Massimo Mangino, Tim D. Spector, Panos Deloukas, Veronique Bataille, Jordana T. Bell Journal of Investigative Dermatology Volume 137, Issue 4, Pages 910-920 (April 2017) DOI: 10.1016/j.jid.2016.11.029 Copyright © 2016 The Authors Terms and Conditions

Figure 1 Global DNA methylation profiles and skin tissue specificity. First two principal components colored by layer specificity; red for dermal tissue, blue for epidermal tissue, and yellow for our data (see the legend). Journal of Investigative Dermatology 2017 137, 910-920DOI: (10.1016/j.jid.2016.11.029) Copyright © 2016 The Authors Terms and Conditions

Figure 2 Nevus count epigenome-wide results in 322 female individuals. (a) Manhattan plot of the epigenome-wide association results in 322 female individuals, where each point represents the observed –log10 P-value at a CpG site. (b) Panel plot depicting the direction of association at the three top-ranked signals for cg06244240 (left), cg06123942 (middle), and cg25384157 (right). Results are plotted using normalized unadjusted beta values per individual. The lines represent the linear correlation between DNA methylation and total body nevus count. (c) Heatmap of top 48 ranked n-DMPs colored by –log10 P-values of age association and nevus association. DMP, differentially methylated position. Journal of Investigative Dermatology 2017 137, 910-920DOI: (10.1016/j.jid.2016.11.029) Copyright © 2016 The Authors Terms and Conditions

Figure 3 Location of two top-ranked n-DMRs in the human genome. Figures obtained from UCSC Genome browser, displaying position in the genome (hg19), CpG sites from HumanMethylation450 BeadChip, n-DMR (in light blue), RefSeq genes, CpG island, transcription factor ChIP data, DNase-I sensitivity sites, and ChromHMM genomic segmentation. (a) At ARRDC1. (b) At CTC1. DMR, differentially methylated region. Journal of Investigative Dermatology 2017 137, 910-920DOI: (10.1016/j.jid.2016.11.029) Copyright © 2016 The Authors Terms and Conditions

Figure 4 GWAS SNPs for nevus count or melanoma risk versus DNA methylation in skin tissue in cis. Regional plot of 100 kb flanking regions around the GWAS SNP of interest denoted as a striped black line. Each point is a CpG site with its P-value on the y-axis. The plots are annotated with a gene track from LocusZoom. Each point is colored according to the occurrence of genetic variants on the probe sequence (see the legend): (a) rs738322 identified for cutaneous nevi; (b) rs3768080 identified for cutaneous nevi; (c) rs45430 identified for melanoma risk; (d) rs401681 identified for melanoma risk. GWAS, genome-wide association studies; SNP, single nucleotide polymorphism. Journal of Investigative Dermatology 2017 137, 910-920DOI: (10.1016/j.jid.2016.11.029) Copyright © 2016 The Authors Terms and Conditions