Leading the way to a cure


Comprehensive Genomic Discovery in Human SLE

Gillespie, Emily, PhD

University of Minnesota

Microarrays are a method of revealing the biological significance of differences in gene expression. For the last 5 years, Dr. Gillepsie’s group has been applying gene expression microarrays of peripheral blood to human SLE. Many distinct SLE gene signatures have been identified, several of which are highly correlated with disease severity and activity. Important recent data indicates that gene expression levels in humans are influenced significantly by single nucleotide polymorphism (SNP) variation in the population. (SNPs are the small genetic changes that can occur within a person’s DNA sequence.) In this project, they will explore their primary hypothesis that the blood cell gene expression patterns that characterize SLE are associated with genetic SNP variants. They also hypothesize that some of the genetic variants implicated in the forthcoming whole genome association study from the SLEGEN consortium (see above) will result in altered gene expression levels that can be detected by microarray. They will use blood from some of the same individuals under study by SLEGEN to analyze gene expression data as well as signatures of interferon, another protein that has been implicated in lupus, and other associated immune system factors. Together with Dr. David Altshuler and colleagues at the Broad Institute of MIT/Harvard, they hope to identify putative associations between gene expression levels and the genetic SNP variation in those genes and pathways for which we have a priori evidence of a role in disease. Finally, they will test the putative gene/gene expression associations in three separate replicate datasets, and then begin work towards understanding how these genes contribute to the molecular phenotype of human SLE. (A phenotype is the manifestation of a trait that varies between individuals; the genotype — genes plus the environment — determine the phenotype.) 

What this study means for people with lupus: This work will strongly leverage the results of the ongoing SLEGEN project and will be the first genome-wide examination of the genetics underlying the molecular gene expression phenotypes that characterize SLE. The likely result of this work will be a better understanding of the genetic underpinnings of human SLE and the identification of novel targets for therapy.  

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