González-Serna, DavidVillanueva-Martin, GonzaloAcosta-Herrera, MarialbertMárquez, AnaMartín, Javier2022-07-012022-07-012020-12-09González-Serna D, Villanueva-Martin G, Acosta-Herrera M, Márquez A, Martín J. Approaching Shared Pathophysiology in Immune-Mediated Diseases through Functional Genomics. Genes. 2020 Dec 9;11(12):1482http://hdl.handle.net/10668/3731Immune-mediated diseases (IMDs) are complex pathologies that are strongly influenced by environmental and genetic factors. Associations between genetic loci and susceptibility to these diseases have been widely studied, and hundreds of risk variants have emerged during the last two decades, with researchers observing a shared genetic pattern among them. Nevertheless, the pathological mechanism behind these associations remains a challenge that has just started to be understood thanks to functional genomic approaches. Transcriptomics, regulatory elements, chromatin interactome, as well as the experimental characterization of genomic findings, constitute key elements in the emerging understandings of how genetics affects the etiopathogenesis of IMDs. In this review, we will focus on the latest advances in the field of functional genomics, centering our attention on systemic rheumatic IMDs.enAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/Functional genomicsImmune-mediated diseasesTrancriptomicsGWASHi-CShared geneticsGenómicaInmunidad celularEstudio de asociación del genoma completoGenéticaPerfilación de la expresión génicaMedical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics::EpigenomicsMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Gene Expression ProfilingMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic LociMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to DiseaseMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies::Genome-Wide Association StudyMedical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::GenomicsMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Diseases::Immune System DiseasesMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Base Sequence::Regulatory Sequences, Nucleic AcidMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Transcriptomereview article33317201open access10.3390/genes111214822073-4425PMC7762979