白人和东亚儿童的威尔姆斯瘤之间的表观遗传差异
Ryuji Fukuzawa1, Norman E Breslow, Ian M Morison
1Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Lancet (London, England)
|February 14, 2004
概括
威尔姆斯瘤发病率因IGF2印记的差异而因种族而异. 东亚儿童很少表现出IGF2的印记损失 (LOI),这是白人患者常见的机制.
科学领域:
- 遗传学 是一个遗传学.
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 儿科瘤学 儿科瘤学
背景情况:
- 威尔姆斯瘤发病率的国际变异表明遗传影响.
- 胰岛素样生长因子2 (IGF2) 基因通常被印记,但在某些瘤中发生印记损失 (LOI),导致双列表达.
- 这项研究调查了IGF2 LOI的不同频率是否解释了东亚和白人儿童之间的发病率差异.
研究的目的:
- 确定威尔姆斯瘤与IGF2印记丧失 (LOI) 的比例的变化是否解释了东亚和白人儿童之间的不同发病率.
- 为了比较IGF2LOI的频率和与之相关的围膜质休息在不同种族群体的威尔姆斯瘤中.
主要方法:
- 评估IGF2 LOI使用IGF2外体9的ApaI多态或DNA甲基化定量PCR.
- 从组织学上评估了来自日本,白人和东亚儿童的威尔姆斯瘤中围膜质休息的频率.
主要成果:
- 在白人儿童的威尔姆斯瘤中 (13/41) 观察到IGF2 LOI,但在日本儿童中没有 (0/21).
- 与日本 (1%) 和东亚裔美国 (8%) 儿童相比,白色美国儿童 (24%) 的患儿患儿患儿患儿的患儿患病率明显高.
结论:
- 东亚人群中的威尔姆斯瘤很少源于白人患者中常见的IGF2 LOI机制.
- 日本和东亚裔美国儿童中IGF2 LOI和相关休息的低频率支持了这一点.
- 这种表观遗传机制的频率的变化解释了不同人群之间的不同威尔姆斯瘤发病率.
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