title: Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype.
abstract: Genetic factors exert an important role in determining Systemic Lupus Erythematosus (SLE) susceptibility, interplaying with environmental factors. Several genetic studies in various SLE populations have identified numerous susceptibility loci. From a clinical point of view, SLE is characterized by a great heterogeneity in terms of clinical and laboratory manifestations. As widely demonstrated, specific laboratory features are associated with clinical disease subset, with different severity degree. Similarly, in the last years, an association between specific phenotypes and genetic variants has been identified, allowing the possibility to elucidate different mechanisms and pathways accountable for disease manifestations. However, except for Lupus Nephritis (LN), no studies have been designed to identify the genetic variants associated with the development of different phenotypes. In this review, we will report data currently known about this specific association.
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy.
authors.forename: Fulvia
authors.initials: F
authors.lastname: Ceccarelli
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Perricone
authors.affiliation: Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Borgiani
authors.affiliation: Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Ciccacci
authors.affiliation: Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Rufini
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy.
authors.forename: Enrica
authors.initials: E
authors.lastname: Cipriano
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy.
authors.forename: Cristiano
authors.initials: C
authors.lastname: Alessandri
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy.
authors.forename: Francesca Romana
authors.initials: FR
authors.lastname: Spinelli
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Sili Scavalli
authors.affiliation: Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy.
authors.forename: Guido
authors.initials: G
authors.lastname: Valesini
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Conti
mesh_terms: D000818:Animals; D018450:Disease Progression; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008181:Lupus Nephritis / Q000235:genetics* / Q000276:immunology; D010641:Phenotype; D011110:Polymorphism, Genetic; D012306:Risk