Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes

Harald H.H. Göring, Joanne E. Curran, Matthew P. Johnson, Thomas D. Dyer, Jac Charlesworth, Shelley A. Cole, Jeremy B.M. Jowett, Lawrence J. Abraham, David L. Rainwater, Anthony G. Comuzzie, Michael C. Mahaney, Laura Almasy, Jean W. MacCluer, Ahmed H. Kissebah, Gregory R. Collier, Eric K. Moses, John Blangero

    Research output: Contribution to journalArticlepeer-review

    412 Scopus citations


    Quantitative differences in gene expression are thought to contribute to phenotypic differences between individuals. We generated genome-wide transcriptional profiles of lymphocyte samples from 1,240 participants in the San Antonio Family Heart Study. The expression levels of 85% of the 19,648 detected autosomal transcripts were significantly heritable. Linkage analysis uncovered >1,000 cis-regulated transcripts at a false discovery rate of 5% and showed that the expression quantitative trait loci with the most significant linkage evidence are often located at the structural locus of a given transcript. To highlight the usefulness of this much-enlarged map of cis-regulated transcripts for the discovery of genes that influence complex traits in humans, as an example we selected high-density lipoprotein cholesterol concentration as a phenotype of clinical importance, and identified the cis-regulated vanin 1 (VNN1) gene as harboring sequence variants that influence high-density lipoprotein cholesterol concentrations.

    Original languageEnglish (US)
    Pages (from-to)1208-1216
    Number of pages9
    JournalNature Genetics
    Issue number10
    StatePublished - Oct 2007

    ASJC Scopus subject areas

    • Genetics

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