检测和复制影响人类转录的表观症
Gibran Hemani1, Konstantin Shakhbazov1, Harm-Jan Westra2
11] Queensland Brain Institute, University of Queensland, Brisbane, Queensland 4072, Australia [2] University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland 4072, Australia.
Nature
|February 28, 2014
概括
基因变异相互作用以影响特征的表观症在人类中很常见. 先进的计算揭示了影响基因表达的常见单核酸多态 (SNP) 之间的许多相互作用,为复杂的特征遗传学提供了新的见解.
科学领域:
- 人类遗传学 人类遗传学
- 进化生物学 进化生物学
- 基因组学就是基因组学.
背景情况:
- 表观性,即基因变异之间的相互作用,对于理解复杂的特征至关重要.
- 由于统计和计算的局限性,在自然人群中检测表观症一直是具有挑战性的.
- 之前的研究主要通过在模型生物中人工基因操纵来证明表观症.
研究的目的:
- 研究人类基因表达中常见的单核酸多态体 (SNPs) 间的表现和影响.
- 开发和应用先进的计算方法来检测自然人群中的表观相互作用.
- 为影响人类特征和遗传变异的经验证据提供经验证据.
主要方法:
- 利用先进的计算方法和基因表达研究设计.
- 分析了846个人的外周血液中的基因表达水平.
- 识别和复制常见SNP之间的对和网络层次的表观相互作用.
主要成果:
- 发现了501种影响238个基因 (P < 2.91 × 10−16) 的常见SNP之间的显著双向表观性相互作用.
- 在独立数据集中复制的相互作用证实了效应的方向,并显示了显著相互作用的丰富.
- 确定了涉及三种或更多SNP的表观性网络,影响129个基因,包括复杂的cis-trans相互作用.
结论:
- 这项研究提供了第一个广泛的证据,证明了在影响人类基因表达的常见多态体中广泛的表现.
- 先进的计算方法克服了以前在检测自然表现症方面的技术挑战.
- 这些发现对理解复杂的人类特征和疾病的遗传结构具有重大意义.
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