中国人群中DNMT3B基因579G>T启动子多态性与食管癌风险
DNMT3B 579 G>T promoter polymorphism and risk of esophagus carcinoma in Chinese.
作者信息
Fan Hong, Liu Dong-Sheng, Zhang Shu-Hong, Hu Jia-Bo, Zhang Feng, Zhao Zhu-Jiang
机构信息
Key Laboratory of Developmental Genes and Human Diseases, Ministry of Education, Southeast University, Nanjing 210009, Jiangsu Province, China.
出版信息
World J Gastroenterol. 2008 Apr 14;14(14):2230-4. doi: 10.3748/wjg.14.2230.
AIM
To investigate the relationship between 579 G>T polymorphisms in the DNMT3B gene, which is involved in de novo methylation and associated with the risk of esophagus cancer (EC) in Chinese.
METHODS
DNMT3B 579 G>T genotypes were determined by PCR-RFLP in 194 EC patients and 210 healthy controls matched for age and sex, who did not receive radiotherapy or chemotherapy for newly diagnosed and histopathologically confirmed EC.
RESULTS
In control subjects, the frequency of T/T and G/T genotypes, and T and G alleles was 81.4%, 18.1%, 90.05% and 9.55%, respectively. The distribution of genotypes and allelotypes in the EC patients was not significantly different from that in the controls. When stratified by sex and age, there was still no significant association between the risks of EC and GT and GG genotypes. This study also showed a distinct difference in the distribution of DNMT3B and single nucleotide polymorphism (SNP) between Chinese and Koreans.
CONCLUSION
DNMT3B 579 G>T polymorphism may not be a stratification marker to predict the susceptibility to EC, at least in Chinese. DNMT3B promoter SNP is diverse in ethnic populations.
目的
研究参与从头甲基化且与中国人群食管癌（EC）风险相关的DNMT3B基因579G>T多态性之间的关系。
方法
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对194例新诊断且经组织病理学确诊为EC的患者以及210例年龄和性别匹配的健康对照者进行DNMT3B 579G>T基因型检测，这些对照者未接受过放疗或化疗。
结果
在对照人群中，T/T和G/T基因型以及T和G等位基因的频率分别为81.4%、18.1%、90.05%和9.55%。EC患者的基因型和等位基因分布与对照人群无显著差异。按性别和年龄分层后，EC风险与GT和GG基因型之间仍无显著关联。本研究还显示，中国人群与韩国人群在DNMT3B和单核苷酸多态性（SNP）的分布上存在明显差异。
结论
至少在中国人群中，DNMT3B 579G>T多态性可能不是预测EC易感性的分层标志物。DNMT3B启动子SNP在不同种族人群中存在差异。
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