A survey of genetic human cortical gene expression

Amanda J. Myers, J. Raphael Gibbs, Jennifer A. Webster, Kristen Rohrer, Alice Zhao, Lauren Marlowe, Mona Kaleem, Doris Leung, Leslie Bryden, Priti Nath, Victoria L. Zismann, Keta Joshipura, Matthew J. Huentelman, Diane Hu-Lince, Keith D. Coon, David W. Craig, John V. Pearson, Peter Holmans, Christopher B. Heward, Eric M. ReimanDietrich Stephan, John Hardy

Research output: Contribution to journalArticlepeer-review

389 Scopus citations


It is widely assumed that genetic differences in gene expression underpin much of the difference among individuals and many of the quantitative traits of interest to geneticists. Despite this, there has been little work on genetic variability in human gene expression and almost none in the human brain, because tools for assessing this genetic variability have not been available. Now, with whole-genome SNP genotyping arrays and whole-transcriptome expression arrays, such experiments have become feasible. We have carried out whole-genome genotyping and expression analysis on a series of 193 neuropathologically normal human brain samples using the Affymetrix GeneChip Human Mapping 500K Array Set and Illumina HumanRefseq-8 Expression BeadChip platforms. Here we present data showing that 58% of the transcriptome is cortically expressed in at least 5% of our samples and that of these cortically expressed transcripts, 21% have expression profiles that correlate with their genotype. These genetic-expression effects should be useful in determining the underlying biology of associations with common diseases of the human brain and in guiding the analysis of the genomic regions involved in the control of normal gene expression.

Original languageEnglish (US)
Pages (from-to)1494-1499
Number of pages6
JournalNature genetics
Issue number12
StatePublished - Dec 2007
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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