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J Clin Invest
2015[Jun]; 125
(6
): 2234-41
PMID26030227
show ga
Autoimmune diseases affect up to approximately 10% of the population. While rare
Mendelian autoimmunity syndromes can result from monogenic mutations disrupting
essential mechanisms of central and peripheral tolerance, more common human
autoimmune diseases are complex disorders that arise from the interaction between
polygenic risk factors and environmental factors. Although the risk attributable
to most individual nucleotide variants is modest, genome-wide association studies
(GWAS) have the potential to provide an unbiased view of biological pathways that
drive human autoimmune diseases. Interpretation of GWAS requires integration of
multiple genomic datasets including dense genotyping, cis-regulatory maps of
primary immune cells, and genotyped studies of gene expression in relevant cell
types and cellular conditions. Improved understanding of the genetic basis of
autoimmunity may lead to a more sophisticated understanding of underlying
cellular phenotypes and, eventually, novel diagnostics and targeted therapies.
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