Genetics of immune-mediated disorders: from genome-wide association to molecular mechanism

Curr Opin Immunol. 2014 Dec;31:51-7. doi: 10.1016/j.coi.2014.09.007. Epub 2014 Oct 14.


Genetic association studies have identified not only hundreds of susceptibility loci to immune-mediated diseases but also pinpointed causal amino-acid variants of HLA genes that contribute to many autoimmune reactions. Majority of non-HLA genetic variants are located within non-coding regulatory region. Expression QTL studies have shown that these variants affect disease mainly by regulating gene expression. We discuss recent findings on shared genetic loci between infectious and immune-mediated diseases and provide potential clues to explore genetic associations in the context of these infectious agents. We propose that the interdisciplinary studies (genetics-genomics-immunology-infection-bioinformatics) are the future post-GWAS approaches to advance our understanding of the pathogenesis of immune-mediated diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Genetic Variation*
  • Genome-Wide Association Study*
  • HLA Antigens / genetics*
  • Humans
  • Immune System Diseases / genetics*
  • Quantitative Trait Loci*


  • HLA Antigens