title: DNMT3A -448A>G polymorphism and the risk for hepatocellular carcinoma.
abstract: DNA-methyltransferase (DNMT) 3A plays a significant role in carcinogenesis. Findings of a previous study suggested an association between the DNMT3A -448A>G single-nucleotide polymorphism (SNP) and susceptibility to gastric cancer (GC) and colorectal cancer (CRC). Hepatocellular carcinoma (HCC) is a common malignancy, with a similar expression pattern to GC. The aim of this case-control study was to determine whether there is an association betweenDNMT3Agene polymorphism and susceptibility to HCC. Real-time quantitive PCR (qPCR) was employed to detectDNMT3Aexpression in tumor and non-cancer liver tissue from 13 HCC patients. An increased expression ofDNMT3Awas detected, as well as -448A>G polymorphisms ofDNMT3Apromoter by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP), confirmed by sequencing. The distribution of -448A>G polymorphisms was examined in 108 HCC patients and 225 healthy controls who were matched for age and gender. The association of -448A>G polymorphisms of DNMT3A and the risk of HCC was evaluated by stratified analysis according to the patient's age and gender. The allele frequency of -448A among HCC patients and the controls was 24.07 vs. 24.22%, respectively. The frequency of genotypes GG, AG, AA was 55.56 vs. 56.89%, 40.74 vs. 37.78%, 3.7 vs. 5.33%, respectively. The results indicated that -448A>G is not associated with susceptibility to HCC, although -448A>G is a functional single-nucleotide polymorphism (SNP) and increased the expression of DNMT3A in HCC cases. Findings of the present study suggested that theDNMT3A-448A>G polymorphism is an insufficient biomarker to predict the susceptibility to HCC.
authors.affiliation: Department of Medical Genetics and Developmental Biology, Medical School of Southeast University and Key Laboratory of Developmental Genes and Human Diseases, Ministry of Education, Nanjing, Jiangsu 210009, P.R. China.
authors.forename: Chengcheng
authors.initials: C
authors.lastname: Zhao
authors.affiliation: The Jiangsu Cancer Hospital, Nanjing, Jiangsu 210009, P.R. China.
authors.forename: Feng
authors.initials: F
authors.lastname: Yan
authors.affiliation: Department of Medical Genetics and Developmental Biology, Medical School of Southeast University and Key Laboratory of Developmental Genes and Human Diseases, Ministry of Education, Nanjing, Jiangsu 210009, P.R. China.
authors.forename: Huazhang
authors.initials: H
authors.lastname: Wu
authors.affiliation: Department of Medical Genetics and Developmental Biology, Medical School of Southeast University and Key Laboratory of Developmental Genes and Human Diseases, Ministry of Education, Nanjing, Jiangsu 210009, P.R. China.
authors.forename: Fengchang
authors.initials: F
authors.lastname: Qiao
authors.affiliation: Department of Medical Genetics and Developmental Biology, Medical School of Southeast University and Key Laboratory of Developmental Genes and Human Diseases, Ministry of Education, Nanjing, Jiangsu 210009, P.R. China.
authors.forename: Xuemei
authors.initials: X
authors.lastname: Qiu
authors.affiliation: Department of Medical Genetics and Developmental Biology, Medical School of Southeast University and Key Laboratory of Developmental Genes and Human Diseases, Ministry of Education, Nanjing, Jiangsu 210009, P.R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Fan
keywords: DNA-methyltransferase 3A; hepatocellular carcinoma; single-nucleotide polymorphism; susceptibility