Genotypic and phenotypic characterization of a putative tumor susceptibility gene, GNMT, in liver cancer.

摘要: Glycine N-methyltransferase (GNMT), a multifunctional protein involved in the maintenance of genetic stability, is often down-regulated hepatocellular carcinoma (HCC). Using genotypic characterization GNMT hepatoma cell lines and Taiwanese population with high incidence liver cancer we have investigated role this gene progression cancer. Six novel polymorphisms, including two short tandem repeats, one 4-nucleotide insertion/deletion polymorphism, three single nucleotide were identified study. The rates loss heterozygosity at locus pairs normal tumor tissue from HCC patients approximately 36-47%. In addition, observed decreases adjacent DNA compared that blood individuals patients. This may result early event within tissues However, study, did not observe association polymorphic alleles as inherited risk factors for HCC. We also elucidated functional impact markers promoter by performing luciferase reporter gel mobility shift assays. results indicate repeat 1 region could cause allelic specific effects on transcriptional activity GNMT. genotypes GNMT, which presumably lower expression level, estimated vitro studies, are over-represented tumor-adjacent summary, our suggest alteration be an development new susceptibility