Genetic inheritance of gene expression in human cell lines

Monks, S. A., Leonardson, A., Zhu, H., Cundiff, P., Pietrusiak, P., Edwards, S., ... Schadt, E. E. (2004). Genetic inheritance of gene expression in human cell lines. American Journal of Human Genetics, 75(6), 1094-1105.

Combining genetic inheritance information, for both molecular profiles and complex traits, is a promising strategy not only for detecting quantitative trait loci (QTLs) for complex traits but for understanding which genes, pathways, and biological processes are also under the influence of a given QTL. As a primary step in determining the feasibility of such an approach in humans, we present the largest survey to date, to our knowledge, of the heritability of gene-expression traits in segregating human populations. In particular, we measured expression for 23,499 genes in lymphoblastoid cell lines for members of 15 Centre d'Etude du Polymorphisme Humain ( CEPH) families. Of the total set of genes, 2,340 were found to be expressed, of which 31% had significant heritability when a false-discovery rate of 0.05 was used. QTLs were detected for 33 genes on the basis of at least one P value