Scientific Publications

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

Publication TypeJournal Article
AuthorsStranger, BE, and De Jager PL
AbstractThere 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.
Year of Publication2012
JournalCurrent opinion in immunology
Volume24
Issue5
Pages544-51
Date Published (YYYY/MM/DD)2012/10/01
ISSN Number0952-7915
DOI10.1016/j.coi.2012.09.002
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/23040211?dopt=Abstract