Department of Dermatology, Mersin University, Mersin, Turkey.
Network of Dermatology Research (NDR), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Adv Exp Med Biol. 2022;1367:213-257. doi: 10.1007/978-3-030-92616-8_9.
Lupus erythematosus (LE) is a heterogeneous disease with a wide range of manifestations ranging from localized lesions in cutaneous lupus erythematosus (CLE) to severe disseminated disease in systemic lupus erythematosus (SLE).Lupus results from a complex interaction between genetic and epigenetic backgrounds and environmental triggers that cause loss of tolerance to self-antigens and the formation of autoantibodies. Genetic susceptibility plays a key role in the pathogenesis of lupus erythematosus. In most cases, multiple common alleles with modest effect sizes are combined to result in the polygenic inheritance of the disease but monogenic variants of lupus have also been described. Genes from the innate and adaptive immune system along with genes involved in apoptosis and immunoglobulin clearance have been linked to SLE. This chapter aims to explore the functions of these genes and their contribution to the pathogenesis of the disease.
红斑狼疮（LE）是一种异质性疾病，临床表现广泛，从局限性皮损的盘状红斑狼疮（CLE）到系统性红斑狼疮（SLE）的严重播散性疾病。狼疮是由遗传和表观遗传背景与环境触发因素之间的复杂相互作用引起的，这些因素导致对自身抗原的耐受性丧失和自身抗体的形成。遗传易感性在红斑狼疮的发病机制中起着关键作用。在大多数情况下，多个具有适度效应大小的常见等位基因结合在一起，导致疾病的多基因遗传，但也描述了狼疮的单基因变异。先天和适应性免疫系统的基因以及涉及细胞凋亡和免疫球蛋白清除的基因与 SLE 有关。本章旨在探讨这些基因的功能及其对疾病发病机制的贡献。
