基因多态和癌症易感性之间的关联:系统性审查和元分析
Asma Khorshid Shamshiri1,2, Maryam Alidoust1,2, Fahimeh Afzaljavan3
1Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Cell journal
|July 2, 2025
概括
这次元分析发现,DNA甲基转移酶1 (DNMT1) 多态性与癌症风险有关. 具体来说,rs2228612和rs2228611变种与包括胃肠道和乳腺癌在内的各种癌症有显著联系.
科学领域:
- 遗传学和表观遗传学
- 癌症生物学 癌症生物学
- 分子流行病学分子流行病学
背景情况:
- 异常的DNA甲基化是癌细胞的标志,涉及表观遗传改变.
- DNA甲基转移酶1 (DNMT1) 是DNA甲基化中的一个关键酶,也是潜在的癌症易感基因.
- 之前对DNMT1多态性和癌症风险的研究已经产生了不一致的结果.
研究的目的:
- 通过全面的元分析,澄清DNMT1多态和癌症易感性之间的关系.
- 巩固现有证据,并更清楚地了解DNMT1在癌症风险中的作用.
主要方法:
- 在PubMed,Web of Science和Scopus数据库中进行系统的文献搜索,直到2025年1月.
- 包括23个病例控制研究,检查23个DNMT1多态和癌症风险.
- 使用固定效应或随机效应模型来计算几率比率 (OR) 和95%置信区间 (CI) 的元分析,评估异质性和出版偏差.
主要成果:
- 该元分析包括23项病例控制研究,调查了23种DNMT1多态.
- 发现rs2228612 (共主导模型) 和rs2228611 (主导模型) 与整体癌症风险有显著的关联.
- 小组分析表明rs2228612与胃肠癌,rs2228611与乳腺癌之间存在关联.
结论:
- DNMT1的多态性在癌症易感性中起作用.
- 具体的多态性,rs2228612和rs2228611,与某些癌症的风险增加有关.
- 需要进一步进行高质量的研究来验证这些发现并阐明精确的机制.
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