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Published on: June 2, 2021
Genetics of immune-mediated disorders: from genome-wide association to molecular mechanism
Vinod Kumar1, Cisca Wijmenga1, Ramnik J Xavier2
1University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
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.
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