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Melanoma risk alleles are associated with downregulation of the MTAP gene and hypermethylation of a CpG island upstream of the gene in dermal fibroblasts |
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| Authors: | Antonella Sangalli Giovanni Malerba Gianpaolo Tessari Monica Rodolfo Macarena Gomez‐Lira |
| Affiliation: | 1. Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy;2. Section of Dermatology and Venereal Diseases, Department of Medicine, University of Verona, Verona, Italy;3. Unit of Immunotherapy, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy |
| Abstract: | Several association studies and GWAS on melanoma skin cancer risk have reported statistically significant signals on 9p21.3 region, where MTAP gene maps. None of the associated SNPs identified in these studies lie in the coding region of the gene and the causative relation of risk alleles with melanoma predisposition has not been elucidated. MTAP has a tumor suppressor activity and epigenetic silencing has been described in melanoma cell lines. In the present study, we show that melanoma risk alleles correlate with a MTAP allele‐specific hyper‐methylation and down‐regulation of gene expression. |
| Keywords: | allele‐specific expression allele‐specific methylation genome‐wide association study melanoma skin cancer |