title: 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.
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address: v.kumar@umcg.nl.
authors.forename: Vinod
authors.initials: V
authors.lastname: Kumar
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
authors.forename: Cisca
authors.initials: C
authors.lastname: Wijmenga
authors.affiliation: Broad Institute of MIT and Harvard, Cambridge, USA; Centre for Computational and Integrative Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
authors.forename: Ramnik J
authors.initials: RJ
authors.lastname: Xavier
mesh_terms: D000818:Animals; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics*; D040641:Quantitative Trait Loci
chemical_list: D006680:HLA Antigens