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Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes
journal contribution
posted on 2023-05-17, 08:32 authored by Goring, HHH, Curran, JE, Johnson, MP, Dyer, TD, Jac CharlesworthJac Charlesworth, Cole, SA, Jowett, JBM, Abraham, LJ, Rainwater, DL, Comuzzie, AG, Mahaney, MC, Almasy, L, MacCluer, JW, Kissebah, AH, Collier, GR, Moses, EK, Blangero, JQuantitative 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.
History
Publication title
Nature GeneticsVolume
39Issue
10Pagination
1208-1216ISSN
1061-4036Department/School
Menzies Institute for Medical ResearchPublisher
Nature Publishing GroupPlace of publication
345 Park Ave South, New York, USA, Ny, 10010-1707Rights statement
Copyright © 2007 Nature Publishing GroupRepository Status
- Restricted