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Curr Opin Immunol. 2014 Dec;31:51-7. doi: 10.1016/j.coi.2014.09.007. Epub 2014 Oct 14.

Genetics of immune-mediated disorders: from genome-wide association to molecular mechanism.

Author information

1
University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address: v.kumar@umcg.nl.
2
University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
3
Broad Institute of MIT and Harvard, Cambridge, USA; Centre for Computational and Integrative Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

Abstract

Genetic association studies have identified not only hundreds of susceptibility loci to immune-mediated diseases but also pinpointed causal amino-acid variants of HLA genes that contribute to many autoimmune reactions. Majority of non-HLA genetic variants are located within non-coding regulatory region. Expression QTL studies have shown that these variants affect disease mainly by regulating gene expression. We discuss recent findings on shared genetic loci between infectious and immune-mediated diseases and provide potential clues to explore genetic associations in the context of these infectious agents. We propose that the interdisciplinary studies (genetics-genomics-immunology-infection-bioinformatics) are the future post-GWAS approaches to advance our understanding of the pathogenesis of immune-mediated diseases.

PMID:
25458995
PMCID:
PMC5080657
DOI:
10.1016/j.coi.2014.09.007
[Indexed for MEDLINE]
Free PMC Article

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