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Curr Opin Immunol DOI:10.1016/j.coi.2012.09.002

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

Publication TypeJournal Article
Year of Publication2012
AuthorsStranger, BE, De Jager, PL
JournalCurr Opin Immunol
Date Published2012 Oct
KeywordsAutoimmune Diseases, Gene Expression Regulation, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Systems Biology

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.


Alternate JournalCurr. Opin. Immunol.
PubMed ID23040211
PubMed Central IDPMC3489007
Grant ListR01 NS067305 / NS / NINDS NIH HHS / United States
RC2 GM093080 / GM / NIGMS NIH HHS / United States