title: Genetic factors and systemic sclerosis.
abstract: Systemic sclerosis (SSc) is a rare connective tissue disease of unknown etiology characterized by chronic inflammation and fibrosis of the skin, vascular abnormalities, and variable involvement of organs including kidneys, gastrointestinal tract, heart, and lungs. SSc shows a complex etiology in which both environmental and genetic factors seem to influence the onset and outcome of the disease. We provide an extensive overview of the genetic factors and epigenetic modifications and what their knowledge has revealed in terms of etiopathogenesis of SSc.
authors.affiliation: Departments of Internal Medicine, Scleroderma Unit, Clinical Immunology Unit, University of Genova, Genova, Italy. Electronic address: Giuseppe.Murdaca@unige.it.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Murdaca
authors.affiliation: Departments of Internal Medicine, Scleroderma Unit, Clinical Immunology Unit, University of Genova, Genova, Italy.
authors.forename: Miriam
authors.initials: M
authors.lastname: Contatore
authors.affiliation: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Medical Genetics, University of Genova, Genova, Italy.
authors.forename: Rossella
authors.initials: R
authors.lastname: Gulli
authors.affiliation: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Medical Genetics, University of Genova, Genova, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
authors.affiliation: Departments of Internal Medicine, Scleroderma Unit, Clinical Immunology Unit, University of Genova, Genova, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Puppo
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology; D044127:Epigenesis, Genetic; D006801:Humans; D018664:Interleukin-12 / Q000276:immunology; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology; D014409:Tumor Necrosis Factor-alpha / Q000276:immunology
chemical_list: D014409:Tumor Necrosis Factor-alpha; D018664:Interleukin-12
keywords: Epigenetics; Genetic factors; Polymorphisms; Systemic sclerosis