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Curr Genet Med Rep. 2013 Dec;1(4):203-211.

Geographical, environmental and pathophysiological influences on the human blood transcriptome.

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School of Biology, Georgia Institute of Technology, Atlanta, Georgia 30332, USA.


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.


Axes of variation; differential expression; eQTL; geographical genomics; sociogenomics

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