Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Unravelling the Roles Of susceptibility Loci for Autoimmune Diseases in the Post-GWAS Era

Version 1 : Received: 9 May 2018 / Approved: 10 May 2018 / Online: 10 May 2018 (08:18:44 CEST)

A peer-reviewed article of this Preprint also exists.

Ye, J.; Gillespie, K.M.; Rodriguez, S. Unravelling the Roles of Susceptibility Loci for Autoimmune Diseases in the Post-GWAS Era. Genes 2018, 9, 377. Ye, J.; Gillespie, K.M.; Rodriguez, S. Unravelling the Roles of Susceptibility Loci for Autoimmune Diseases in the Post-GWAS Era. Genes 2018, 9, 377.

Abstract

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 common single nucleotide polymorphisms (SNPs) that are interrogated by GWAS arrays. Some structural variants such as insertions-deletions, copy number variations, and minisatellites that are not very well tagged by SNPs cannot be fully explored by GWAS. Therefore, it is possible that some of these loci may have large effects on autoimmune disease risk. 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.

Keywords

complex loci; autoimmune diseases

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

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