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Article
Nature 430, 743-747 (12 August 2004) | doi:10.1038/nature02797; Received 22 March 2004; Accepted 5 July 2004; Published online 21 July 2004
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Genetic analysis of genome-wide variation in human gene expression
Michael Morley1,3,4, Cliona M. Molony2,4, Teresa M. Weber1,3, James L. Devlin2, Kathryn G. Ewens2, Richard S. Spielman2 & Vivian G. Cheung1,2,3
- Department of Pediatrics, University of Pennsylvania
- Department of Genetics, University of Pennsylvania
- The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
- These authors contributed equally to this work
Correspondence to: Richard S. Spielman2Vivian G. Cheung1,2,3 Email: vcheung@mail.med.upenn.edu
Email: spielman@pobox.upenn.edu
The GEO accession number for the microarray data is GSE1485.
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.
- Department of Pediatrics, University of Pennsylvania
- Department of Genetics, University of Pennsylvania
- The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
- These authors contributed equally to this work
Correspondence to: Richard S. Spielman2Vivian G. Cheung1,2,3 Email: vcheung@mail.med.upenn.edu
Email: spielman@pobox.upenn.edu
The GEO accession number for the microarray data is GSE1485.
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