title: Epigenetic control of autoimmune diseases: from bench to bedside.
abstract: Genome-wide association studies have revealed several genes predisposing to autoimmunity, however, concordance rates in monozygotic twins are significantly below 50% for several autoimmune diseases. The limited presence of a strong genetic association only in some patients supports that other non-genetic mechanisms are active in these pathologies. Epigenetic modifications such as DNA methylation, histone modification, and microRNA signaling regulate gene expression and are sensitive to external stimuli and they might be as bridging between genetic and environmental factors. Some evidence has highlighted the involvement of epigenetic alterations in the pathogenesis of various autoimmune diseases giving rise to great expectations among clinicians and researchers. The direct role of these alterations in the initiation/progression of autoimmune diseases is still unclear. The knowledge in depth of these pathogenic and epigenetic mechanisms will increase the possibility of the control and/or prevention of autoimmune diseases through the use of drugs that target epigenetic pathways. Moreover, we could use epigenetic-related biomarkers to follow this complicated framework (for example H3K4me3 and miRNA-155 are among those proposed biomarkers). This article reviews current understanding of the epigenetic involvement in the field of autoimmune diseases especially in systemic lupus erythematosus, rheumatoid arthritis, sclerosis multiple and type 1 diabetes.
authors.affiliation: U.O.C. Division of Immunohematology, Transfusion Medicine and Transplant Immunology [SIMT], Regional Reference Laboratory of Transplant Immunology [LIT], Azienda Ospedaliera Universitaria (AOU), Second University of Naples, Piazza L. Miraglia 2, 80138 Naples, Italy. Electronic address: antonietta.picascia@policliniconapoli.it.
authors.forename: Antonietta
authors.initials: A
authors.lastname: Picascia
authors.affiliation: U.O.C. Division of Immunohematology, Transfusion Medicine and Transplant Immunology [SIMT], Regional Reference Laboratory of Transplant Immunology [LIT], Azienda Ospedaliera Universitaria (AOU), Second University of Naples, Piazza L. Miraglia 2, 80138 Naples, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Grimaldi
authors.affiliation: U.O.C. Division of Immunohematology, Transfusion Medicine and Transplant Immunology [SIMT], Regional Reference Laboratory of Transplant Immunology [LIT], Azienda Ospedaliera Universitaria (AOU), Second University of Naples, Piazza L. Miraglia 2, 80138 Naples, Italy.
authors.forename: Orlando
authors.initials: O
authors.lastname: Pignalosa
authors.affiliation: U.O.C. Division of Immunohematology, Transfusion Medicine and Transplant Immunology [SIMT], Regional Reference Laboratory of Transplant Immunology [LIT], Azienda Ospedaliera Universitaria (AOU), Second University of Naples, Piazza L. Miraglia 2, 80138 Naples, Italy.
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: De Pascale
authors.affiliation: Institute of Diagnostic and Nuclear Development (SDN), IRCCS, Via E. Gianturco 113, 80143 Naples, Italy.
authors.forename: Concetta
authors.initials: C
authors.lastname: Schiano
authors.affiliation: U.O.C. Division of Immunohematology, Transfusion Medicine and Transplant Immunology [SIMT], Regional Reference Laboratory of Transplant Immunology [LIT], Azienda Ospedaliera Universitaria (AOU), Second University of Naples, Piazza L. Miraglia 2, 80138 Naples, Italy; Institute of Diagnostic and Nuclear Development (SDN), IRCCS, Via E. Gianturco 113, 80143 Naples, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Napoli
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics* / Q000503:physiopathology; D019175:DNA Methylation / Q000235:genetics; D044127:Epigenesis, Genetic / Q000235:genetics*; D006657:Histones / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D006801:Humans; D012313:RNA / Q000378:metabolism; D014430:Twins, Monozygotic
chemical_list: D006657:Histones; D012313:RNA
keywords: Autoimmune disease; DNA methylation; Epigenetic modification; Histone modification; miRNA