Genetic analysis of genome-wide variation in human gene expression

Michael Morley, Cliona M. Molony, Teresa M. Weber, James L. Devlin, Kathryn G. Ewens, Richard S. Spielman () and Vivian G. Cheung ()
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Michael Morley: University of Pennsylvania
Cliona M. Molony: University of Pennsylvania
Teresa M. Weber: University of Pennsylvania
James L. Devlin: University of Pennsylvania
Kathryn G. Ewens: University of Pennsylvania
Richard S. Spielman: University of Pennsylvania
Vivian G. Cheung: University of Pennsylvania

Nature, 2004, vol. 430, issue 7001, 743-747

Abstract: Abstract Natural variation in gene expression is extensive in humans and other organisms, and variation in the baseline expression level of many genes has a heritable component. To localize the genetic determinants of these quantitative traits (expression phenotypes) in humans, we used microarrays to measure gene expression levels and performed genome-wide linkage analysis for expression levels of 3,554 genes in 14 large families. For approximately 1,000 expression phenotypes, there was significant evidence of linkage to specific chromosomal regions. Both cis- and trans-acting loci regulate variation in the expression levels of genes, although most act in trans. Many gene expression phenotypes are influenced by several genetic determinants. Furthermore, we found hotspots of transcriptional regulation where significant evidence of linkage for several expression phenotypes (up to 31) coincides, and expression levels of many genes that share the same regulatory region are significantly correlated. The combination of microarray techniques for phenotyping and linkage analysis for quantitative traits allows the genetic mapping of determinants that contribute to variation in human gene expression.

Date: 2004
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DOI: 10.1038/nature02797

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