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


Goring, HHH and Curran, JE and Johnson, MP and Dyer, TD and Charlesworth, JC and Cole, SA and Jowett, JBM and Abraham, LJ and Rainwater, DL and Comuzzie, AG and Mahaney, MC and Almasy, L and MacCluer, JW and Kissebah, AH and Collier, GR and Moses, EK and Blangero, J, Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes, Nature Genetics, 39, (10) pp. 1208-1216. ISSN 1061-4036 (2007) [Refereed Article]

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Copyright 2007 Nature Publishing Group

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DOI: doi:10.1038/ng2119


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.

Item Details

Item Type:Refereed Article
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Genomics
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biological sciences
UTAS Author:Charlesworth, JC (Dr Jac Charlesworth)
ID Code:73580
Year Published:2007
Web of Science® Times Cited:384
Deposited By:Research Division
Deposited On:2011-10-17
Last Modified:2011-11-16
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