Unravelling the roles of susceptibility loci for autoimmune diseases in the post-GWAS era

Jody Ye, Kathleen M. Gillespie, Santiago Rodriguez

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations


Although genome-wide association studies (GWAS) have identified several hundred loci associated with autoimmune diseases, their mechanistic insights are still poorly understood. The human genome is more complex than single nucleotide polymorphisms (SNPs) that are interrogated by GWAS arrays. Apart from SNPs, it also comprises genetic variations such as insertions-deletions, copy number variations, and somatic mosaicism. Although previous studies suggest that common copy number variations do not play a major role in autoimmune disease risk, it is possible that certain rare genetic variations with large effect sizes are relevant to autoimmunity. In addition, other layers of regulations such as gene-gene interactions, epigenetic-determinants, gene and environmental interactions also contribute to the heritability of autoimmune diseases. This review focuses on discussing why studying these elements may allow us to gain a more comprehensive understanding of the aetiology of complex autoimmune traits.

Original languageEnglish (US)
Article number377
Issue number8
StatePublished - Aug 2018
Externally publishedYes


  • Autoimmune diseases
  • Complex loci

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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