A novel functional TagSNP Rs7560488 in the DNMT3A1 promoter is associated with susceptibility to gastric cancer by modulating promoter activity

PLoS One. 2014 Mar 25;9(3):e92911. doi: 10.1371/journal.pone.0092911. eCollection 2014.

Abstract

DNA-methyltransferase (DNMT)-3A which contains DNMT3A1 and DNMT3A2 isoforms have been suggested to play a crucial role in carcinogenesis and showed aberrant expression in most cancers. Accumulated evidences also indicated that single nucleotide polymorphisms (SNP) in DNMT genes were associated with susceptibility to different tumors. We hypothesized that genetic variants in DNMT3A1 promoter region are associated with gastric cancer risk. We selected the tagSNPs from the HapMap database for the Chinese and genotyped in a case-control study to evaluate the association with gastric cancer (GC) in a Chinese population. We identified that the functional tagSNP rs7560488 T>C associated with a significantly increased risk of GC. In vitro functional analysis by luciferase reporter assay and EMSA indicated that the tagSNP rs7560488 T>C substantially altered transcriptional activity of DNMT3A1 gene via influencing the binding of some transcriptional factors, although a definite transcriptional factor remains to be established. Compared with TT homozygotes, subjects who were TC heterozygotes and CC homozygotes exhibited a reduced expression of DNMT3A1. Furthermore, stratified analysis showed that individuals who harbor TC or CC genotypes less than 60 years old were more susceptible to GC. Our results suggest that the genetic variations in the DNMT3A1 promoter contribute to the susceptibility to GC and also provide an insight that tagSNP rs7560488 T>C may be a promising biomarker for predicting GC genetic susceptibility and a valuable information in GC pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Aging / genetics
  • Alleles
  • Asian People / genetics
  • Base Sequence
  • DNA (Cytosine-5-)-Methyltransferases / genetics*
  • DNA Methyltransferase 3A
  • Female
  • Gene Expression Regulation, Neoplastic / genetics
  • Genetic Predisposition to Disease / genetics*
  • HapMap Project
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic / genetics*
  • Stomach Neoplasms / enzymology*
  • Stomach Neoplasms / genetics*
  • Transcription Factor AP-1 / metabolism
  • Transcription, Genetic / genetics
  • Young Adult

Substances

  • DNMT3A protein, human
  • Transcription Factor AP-1
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A

Grants and funding

This work was supported by the National Natural Science Foundation of China (Grant No. 81171915 and No. 91229107) and the Scientific Research and Innovation Plan for College Graduates of Jiangsu Province, China (Grant No. CXZZ13_0082). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.