Tabassum Rubina, Nath Artika, Preininger Marcela, Gibson Greg
School of Biology, Georgia Institute of Technology, Atlanta, Georgia 30332, USA.
Curr Genet Med Rep. 2013 Dec;1(4):203-211. doi: 10.1007/s40142-013-0028-0.
Gene expression variation provides a read-out of both genetic and environmental influences on gene activity. Geographical, genomic and sociogenomic studies have highlighted how life circumstances of an individual modify the expression of hundreds and in some cases thousands of genes in a co-ordinated manner. This review places such results in the context of a conserved set of 90 transcripts known as Blood Informative Transcripts (BIT) that capture the major conserved components of variation in the peripheral blood transcriptome. Pathophysiological states are also shown to associate with the perturbation of transcript abundance along the major axes. Discussion of false negative rates leads us to argue that simple significance thresholds provide a biased perspective on assessment of differential expression that may cloud the interpretation of studies with small sample sizes.
基因表达变异反映了遗传和环境对基因活性的影响。地理、基因组和社会基因组学研究强调了个体的生活环境如何以协调的方式改变数百个甚至在某些情况下数千个基因的表达。本综述将这些结果置于一组90个保守转录本的背景下,这些转录本被称为血液信息转录本(BIT),它们捕获了外周血转录组变异的主要保守成分。病理生理状态也显示与沿主要轴的转录本丰度扰动相关。对假阴性率的讨论使我们认为,简单的显著性阈值在评估差异表达时提供了一个有偏差的视角,这可能会模糊对小样本量研究的解释。