Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity

Barbara E. Stranger*, Phillip L. De Jager

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

13 Scopus citations


There has been considerable progress in our understanding of the genetic architecture of susceptibility to inflammatory diseases in recent years: several hundred susceptibility loci have been discovered in genome-wide association studies (GWAS) of human populations. This success has created an important challenge in identifying the functional consequences of these risk-associated variants and in elucidating how the repercussions of individual susceptibility loci integrate to yield dysregulation of immune pathways and, ultimately, syndromic clinical phenotypes. The integration of GWAS association signals with high-resolution transcriptome and other genomic data that capture the dynamics of cellular state and function in the context of individual's collection of susceptibility alleles has proven to be a successful avenue of investigation. The rapid pace of methodological development in this area has been coupled with an accumulation of experimental data that makes the elucidation of complex biological networks underlying susceptibility to these common inflammatory diseases a reasonable goal in the near future.

Original languageEnglish (US)
Pages (from-to)544-551
Number of pages8
JournalCurrent Opinion in Immunology
Issue number5
StatePublished - Oct 2012

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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