title: A survey of genetic human cortical gene expression.
abstract: 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.
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, National Institutes of Health Main Campus, Bethesda, Maryland 20892, USA. amyers@med.miami.edu
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Myers
authors.forename: J Raphael
authors.initials: JR
authors.lastname: Gibbs
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Webster
authors.forename: Kristen
authors.initials: K
authors.lastname: Rohrer
authors.forename: Alice
authors.initials: A
authors.lastname: Zhao
authors.forename: Lauren
authors.initials: L
authors.lastname: Marlowe
authors.forename: Mona
authors.initials: M
authors.lastname: Kaleem
authors.forename: Doris
authors.initials: D
authors.lastname: Leung
authors.forename: Leslie
authors.initials: L
authors.lastname: Bryden
authors.forename: Priti
authors.initials: P
authors.lastname: Nath
authors.forename: Victoria L
authors.initials: VL
authors.lastname: Zismann
authors.forename: Keta
authors.initials: K
authors.lastname: Joshipura
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Huentelman
authors.forename: Diane
authors.initials: D
authors.lastname: Hu-Lince
authors.forename: Keith D
authors.initials: KD
authors.lastname: Coon
authors.forename: David W
authors.initials: DW
authors.lastname: Craig
authors.forename: John V
authors.initials: JV
authors.lastname: Pearson
authors.forename: Peter
authors.initials: P
authors.lastname: Holmans
authors.forename: Christopher B
authors.initials: CB
authors.lastname: Heward
authors.forename: Eric M
authors.initials: EM
authors.lastname: Reiman
authors.forename: Dietrich
authors.initials: D
authors.lastname: Stephan
authors.forename: John
authors.initials: J
authors.lastname: Hardy
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002540:Cerebral Cortex / Q000378:metabolism*; D020869:Gene Expression Profiling; D014644:Genetic Variation; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide