Sangalli Antonella, Malerba Giovanni, Tessari Gianpaolo, Rodolfo Monica, Gomez-Lira Macarena
Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy.
Section of Dermatology and Venereal Diseases, Department of Medicine, University of Verona, Verona, Italy.
Exp Dermatol. 2017 Aug;26(8):733-736. doi: 10.1111/exd.13247. Epub 2017 Feb 2.
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.
几项关于皮肤黑色素瘤风险的关联研究和全基因组关联研究（GWAS）报告称，在MTAP基因所在的9p21.3区域存在具有统计学意义的信号。这些研究中鉴定出的相关单核苷酸多态性（SNP）均不在该基因的编码区域，且风险等位基因与黑色素瘤易感性之间的因果关系尚未阐明。MTAP具有肿瘤抑制活性，黑色素瘤细胞系中已发现其存在表观遗传沉默现象。在本研究中，我们发现黑色素瘤风险等位基因与MTAP等位基因特异性高甲基化及基因表达下调相关。
