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.

Aiolos Overexpression in Systemic Lupus Erythematosus B Cell Subtypes and BAFF-Induced Memory B Cell Differentiation Are Reduced by CC-220 Modulation of Cereblon Activity

“…IFN-a, a product of activated plasmacytoid cells, is thought to exert its SLE effects in part by its ability to potentiate B cell differentiation and Ab secretion in vitro and in vivo to worsen B cell-mediated pathology in SLE mouse models (127). Further support of the role of B cells in SLE come from genetic studies where susceptibility loci in SLE have been described that are involved with B cell-related functions including MHC haplotype Ag presentation and transcription factors involved in B cell Ab production (128)(129)(130). Of particular importance is the genetic association of Aiolos (64) and Ikaros (65), which are essential factors in B cell differentiation and Ab secretion, and in the case of Aiolos, found to be overexpressed in the B cells of SLE patients (Fig.…”

Wpływ wybranych cytokin na uszkodzenie narządów w toczniu rumieniowatym układowym

“…Ze względu na zwiększoną częstość występowania u rasy czarnej podejrzewa się również udział czynników genetycznych [1,2,3].…”

Introductory Chapter: Systemic Lupus Erythematosus - Different Predisposing Factors

“…Multiple genes, that are causing SLE, are linked to the function of the immune system and difference in this most likely effect proper controls and targeting of the immune system. Genetic factors along with environmental factors play an important role in the determination of SLE susceptibility [22]. It is suggested that genetic factors play an important role not only in disease susceptibility but also in the development of SLE phenotype [22].…”

“…Genetic factors along with environmental factors play an important role in the determination of SLE susceptibility [22]. It is suggested that genetic factors play an important role not only in disease susceptibility but also in the development of SLE phenotype [22]. The genes that can increase SLE susceptibility are the genes included in the interferon pathway, also containing IRF5, IF1H1, and STAT4 [23].…”