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

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.

SUBMITTER: Kumar V

PROVIDER: S-EPMC5080657 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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

Kumar Vinod V Wijmenga Cisca C Xavier Ramnik J RJ

Current opinion in immunology 20141014

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 ...[more]

PMID: 25458995

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Dataset Information

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

Publications

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

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