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

Göring, Harald H H, Joanne E Curran, Matthew P Johnson, Thomas D Dyer, Jac Charlesworth, Shelley A Cole, Jeremy B M Jowett, et al. 2007. “Discovery of Expression QTLs Using Large-Scale Transcriptional Profiling in Human Lymphocytes.”. Nature Genetics 39 (10): 1208-16.

Abstract

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.

Last updated on 01/06/2023
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