Chen Henry W, Barber Grant, Chong Benjamin F
Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX, United States.
Front Med (Lausanne). 2022 Jun 2;9:916011. doi: 10.3389/fmed.2022.916011. eCollection 2022.
Cutaneous lupus erythematosus (CLE) is an autoimmune connective tissue disease that can exist as a disease entity or within the context of systemic lupus erythematosus (SLE). Over the years, efforts to elucidate the genetic underpinnings of CLE and SLE have yielded a wealth of information. This review examines prior studies investigating the genetics of CLE at the DNA and RNA level and identifies future research areas. In this literature review, we examined the English language literature captured within the MEDLINE and Embase databases using pre-defined search terms. First, we surveyed studies investigating various DNA studies of CLE. We identified three predominant areas of focus in HLA profiling, complement deficiencies, and genetic polymorphisms. An increased frequency of HLA-B8 has been strongly linked to CLE. In addition, multiple genes responsible for mediating innate immune response, cell growth, apoptosis, and interferon response confer a higher risk of developing CLE, specifically TREX1 and SAMHD1. There was a strong association between C2 complement deficiency and CLE. Second, we reviewed literature studying aberrations in the transcriptomes of patients with CLE. We reviewed genetic aberrations initiated by environmental insults, and we examined the interplay of dysregulated inflammatory, apoptotic, and fibrotic pathways in the context of the pathomechanism of CLE. These current learnings will serve as the foundation for further advances in integrating personalized medicine into the care of patients with CLE.
皮肤红斑狼疮（CLE）是一种自身免疫性结缔组织疾病，可作为一种独立疾病存在，也可在系统性红斑狼疮（SLE）背景下出现。多年来，阐明CLE和SLE遗传基础的努力已产生了丰富的信息。本综述考察了此前在DNA和RNA水平上研究CLE遗传学的研究，并确定了未来的研究领域。在这篇文献综述中，我们使用预定义的检索词，检索了MEDLINE和Embase数据库中收录的英文文献。首先，我们调查了研究CLE各种DNA研究的文献。我们确定了HLA分型、补体缺陷和基因多态性这三个主要关注领域。HLA - B8频率增加与CLE密切相关。此外，多个负责介导先天免疫反应、细胞生长、细胞凋亡和干扰素反应的基因会增加患CLE的风险，特别是TREX1和SAMHD1。C2补体缺陷与CLE之间存在密切关联。其次，我们回顾了研究CLE患者转录组异常的文献。我们回顾了由环境损伤引发的基因异常，并在CLE发病机制的背景下研究了炎症、凋亡和纤维化通路失调之间的相互作用。这些目前的研究成果将为将个性化医疗纳入CLE患者护理的进一步进展奠定基础。
