Center for Genomics and Oncological Research (GENyO). Pfizer/ University of Granada/ Andalusian Government, Spain.
Center for Genomics and Oncological Research (GENyO). Pfizer/ University of Granada/ Andalusian Government, Spain; Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Best Pract Res Clin Rheumatol. 2024 Dec;38(4):101971. doi: 10.1016/j.berh.2024.101971. Epub 2024 Jul 15.
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by diverse clinical manifestations affecting multiple organs and systems. The understanding of genetic factors underlying the various manifestations of SLE has evolved considerably in recent years. This review provides an overview of the genetic implications in some of the most prevalent manifestations of SLE, including renal involvement, neuropsychiatric, cutaneous, constitutional, musculoskeletal, and cardiovascular manifestations. We discuss the current state of knowledge regarding the genetic basis of these manifestations, highlighting key genetic variants and pathways implicated in their pathogenesis. Additionally, we explore the clinical implications of genetic findings, including their potential role in risk stratification, prognosis, and personalized treatment approaches for patients with SLE. Through a comprehensive examination of the genetic landscape of SLE manifestations, this review aims to provide insights into the underlying mechanisms driving disease heterogeneity and inform future research directions in this field.
系统性红斑狼疮(SLE)是一种复杂的自身免疫性疾病,其特征是多种临床表现,影响多个器官和系统。近年来,对 SLE 各种表现背后的遗传因素的理解有了相当大的发展。这篇综述概述了一些最常见的 SLE 表现(包括肾脏受累、神经精神、皮肤、全身、肌肉骨骼和心血管表现)中的遗传意义。我们讨论了这些表现的遗传基础的现有知识状态,强调了在发病机制中涉及的关键遗传变异和途径。此外,我们还探讨了遗传发现的临床意义,包括它们在风险分层、预后以及 SLE 患者的个性化治疗方法中的潜在作用。通过对 SLE 表现的遗传景观进行全面检查,本综述旨在深入了解导致疾病异质性的潜在机制,并为该领域的未来研究方向提供信息。