Department of Life Science, Sogang University, Seoul 121-742, Korea.
BMB Rep. 2009 Dec 31;42(12):834-9. doi: 10.5483/bmbrep.2009.42.12.834.
DNA methyltransferase (DNMT) 1 is the key enzyme responsible for DNA methylation, which often occurs in CpG islands located near the regulatory regions of genes and affects transcription of specific genes. In this study, we examined the possible association of DNMT1 polymorphisms with HBV clearance and the risk of hepatocellular carcinoma (HCC). Seven common polymorphic sites were selected by considering their allele frequencies, haplotype-tagging status and LDs for genotyping in larger-scale subjects (n = 1,100). Statistical analysis demonstrated that two intron polymorphisms of DNMT1, +34542G > C and +38565G > T, showed significant association with HBV clearance in a co-dominant model (OR = 1.30, P(corr) = 0.03) and co- dominant/recessive model (OR = 1.34-1.74, P(corr) = 0.01-0.03), respectively. These results suggest that two intron polymorphisms of DNMT1,+34542G > C and +38565G > T, might affect HBV clearance.
DNA 甲基转移酶（DNMT）1 是负责 DNA 甲基化的关键酶，其通常发生在基因调控区域附近的 CpG 岛，影响特定基因的转录。在本研究中，我们研究了 DNMT1 多态性与 HBV 清除和肝细胞癌（HCC）风险的可能关联。通过考虑等位基因频率、单倍型标记状态和较大规模受试者（n=1100）的 LD，选择了 7 个常见的多态性位点进行基因分型。统计分析表明，DNMT1 的两个内含子多态性+34542G > C 和 +38565G > T，在显性模型（OR=1.30，P(corr)=0.03）和显性/隐性模型（OR=1.34-1.74，P(corr)=0.01-0.03）中与 HBV 清除有显著关联。这些结果表明，DNMT1 的两个内含子多态性+34542G > C 和 +38565G > T，可能影响 HBV 清除。
