Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype

Author:

Ceccarelli Fulvia1,Perricone Carlo1,Borgiani Paola2,Ciccacci Cinzia2,Rufini Sara2,Cipriano Enrica1,Alessandri Cristiano1,Spinelli Francesca Romana1,Sili Scavalli Antonio1,Novelli Giuseppe2,Valesini Guido1,Conti Fabrizio1

Affiliation:

1. Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, 00161 Rome, Italy

2. Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome “Tor Vergata”, 00133 Rome, Italy

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.

Publisher

Hindawi Limited

Subject

Immunology,General Medicine,Immunology and Allergy

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