基因表达的遗传学及其对疾病的影响
Valur Emilsson1, Gudmar Thorleifsson, Bin Zhang
1deCODE genetics, 101 Reykjavik, Iceland.
Nature
|March 18, 2008
概括
研究脂肪组织中的基因表达,揭示了与肥胖的密切联系. 一个核心网络模块,涉及炎症和免疫反应,与人类和小鼠的肥胖相关特征因果相关.
科学领域:
- 基因组学就是基因组学.
- 系统生物学 系统生物学
- 代谢疾病 代谢疾病
背景情况:
- 常见的人类疾病源于复杂的基因环境相互作用,需要综合生物学方法.
- 了解肥胖的遗传和分子基础需要对相关组织进行全面分析.
研究的目的:
- 通过分析基因表达模式,阐明人类常见疾病,特别是肥胖症的复杂性.
- 确定关键的生物网络和导致肥胖相关特征的遗传因素.
主要方法:
- 分析了大量基于人口的血液和脂肪组织队列中的23,720个转录的基因表达.
- 进行全基因组链接和关联映射,以识别基因表达的遗传成分.
- 从人类和小鼠脂肪组织数据构建和比较转录网络.
主要成果:
- 观察到脂肪组织中的基因表达与与肥胖有关的特征之间明显的相关性,与血液不同.
- 确定了一种影响基因表达的显著遗传成分,在组织之间存在 cis 作用调节信号的大量重叠.
- 在人类脂肪组织中展示了一个广泛的转录网络,与小鼠脂肪网络有显著的重叠.
- 确定了一种保存的核心网络模块,该模块富含炎症和免疫反应基因,因果关系与肥胖有关.
结论:
- 脂肪组织基因表达与与肥胖有关的特征高度相关.
- 一个保存的炎症和免疫反应网络模块在肥胖中起着因果作用.
- 综合性基因组和转录基因组方法对于理解诸如肥胖等复杂疾病至关重要.
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