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

Jody Ye*, Kathleen M. Gillespie, Santiago Rodriguez

*Corresponding author for this work

Research output: Contribution to journalReview article (Academic Journal)peer-review

29 Citations (Scopus)
282 Downloads (Pure)


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
Article number377
Number of pages15
Issue number8
Early online date27 Jul 2018
Publication statusPublished - 1 Aug 2018


  • Autoimmune diseases
  • Complex loci


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