A new study investigates the association between selected polymorphisms of genes related to DNA methylation and the risk of germ cell cancer of the testis.

Germ cell tumors of the testis (TGCTs) are believed to originate from primordial gonocytes whose maturation process stops when DNA methylation reprogramming occurs in these cells, an epigenetic mechanism that is fundamental for the correct maturation of the cells. germ cells.

It has been hypothesized that single nucleotide polymorphisms (SNPs) found in genes involved in the DNA methylation process are able to influence the correct setting of methylation itself.

In the new study conducted as part of the EPSAM project, and just published in Cancer Epidemiology, Biomarkers & Prevention, it was possible to investigate the possible role of the variants of the genes involved in methylation in the development of TGCT. We used data from the meta-analysis of the Genome Wide Association Studies on TGCT recently conducted by the International Testicular Cancer Consortium (TECAC) on 10,156 patients with TGCT and 179,683 controls, which includes cases and controls recruited within the EPSAM project.

Specifically, the association between 273 SNPs selected in 28 genes involved in DNA methylation and the risk of TGCT was evaluated. The association analysis was performed at the level of the individual SNPs using the estimates produced by the TECAC meta-analysis. In addition, the collective effect of these variants on the genes considered was evaluated by grouping them according to the gene they belong to.

The results of this study suggest that risk-associated variants of TGCT have a potential impact on the DNA methylation process; this could support the hypothesis that the pathogenesis of TGCT is associated with the methylation status of DNA and that this relationship depends, at least in part, on hereditary genetic factors.


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