Genetic Factors Involved in the Pathogenesis of Systemic Lupus Erythematosus

Systemic Lupus Erythematosus (SLE) is a typical systemic autoimmune disease characterized by the production of auto antibodies reactive to nuclear and cellular components such as double-stranded DNA, RNA-proteins and phospholipids. The deposition of immune complex to tissues results in inflammatory reactions leading to tissue damage and organ failures. In recent years, enormous efforts have been undertaken to clarify the genetic susceptibility to SLE. To date, nearly 30 SLE-susceptibility loci have been mapped on the human chromosomes. Mouse models of SLE have also been studied and have contributed to the understanding of SLE pathogenesis. In this review, we summarize the recent knowledge of the SLE susceptibility loci, and we describe new insights into the epistatic interaction of closely linked polymorphic genes that is likely to play a pivotal role in the impaired homeostasis of the immune system in SLE.