TRANSCRIPTOME 2002: From Functional Genomics to Systems
The Genetics of Gene Expression
Eric E. Schadt, Rosetta Inpharmatics, Kirkland, WA
In 1980 Botstein et al. proposed that sequence differences be treated as markers in order to map genes involved in inherited traits. Since that time, the number of genes mapped to positions in the human genome has grown exponentially. Mapping these genes to inherited traits has been extremely successful for simple Mendelian diseases; however, finding such genes for diseases, and their associated risk traits, that are of public health interest has proven difficult. Reasons for this difficulty include disease heterogenity (disease sub-types with some or no overlapping genetic causes), missclassification (from using discrete classifications of disease from thresholds and combinations of thresholds), and cumulative environmental influences. With the advent of technology to measure changes in gene expression, i.e., changes in mRNA transcript abundance, it should be possible to unravel some of the complexity existing for these common diseases. We will show that studying the genetic component of mRNA expression is possible through the use of a sample of CEPH (Centre d'Etude du Polymorphisme Humain) families and other experimental, segregating populations. Discussion will include assessing differential expression of genes for the population, determining whether variation in expression is under genetic control and establishing loci that control variation in expression. Time permitting, it will be shown that combination of information across a number of genes can be used to establish, support and/or confirm a biological pathway.
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