TY - JOUR
T1 - Unravelling the roles of susceptibility loci for autoimmune diseases in the post-GWAS era
AU - Ye, Jody
AU - Gillespie, Kathleen M.
AU - Rodriguez, Santiago
N1 - Publisher Copyright:
© 2018 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2018/8
Y1 - 2018/8
N2 - 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.
AB - 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.
KW - Autoimmune diseases
KW - Complex loci
UR - http://www.scopus.com/inward/record.url?scp=85050822568&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85050822568&partnerID=8YFLogxK
U2 - 10.3390/genes9080377
DO - 10.3390/genes9080377
M3 - Review article
AN - SCOPUS:85050822568
SN - 2073-4425
VL - 9
JO - Genes
JF - Genes
IS - 8
M1 - 377
ER -