Department of Rheumatology and Clinical Immunology, Medical University of Silesia, Voivodeship Hospital No. 5, 41-200 Sosnowiec, Poland.
Genes (Basel). 2024 May 5;15(5):586. doi: 10.3390/genes15050586.
Systemic sclerosis (SSc) is a rare autoimmune connective tissue disorder characterized by massive fibrosis, vascular damage, and immune imbalance. Advances in rheumatology and immunology over the past two decades have led to a redefinition of systemic sclerosis, shifting from its initial perception as primarily a "hyperfibrotic" state towards a recognition of systemic sclerosis as an immune-mediated disease. Consequently, the search for genetic markers has transitioned from focusing on fibrotic mechanisms to exploring immune regulatory pathways. Immunogenetics, an emerging field at the intersection of immunology, molecular biology, and genetics has provided valuable insights into inherited factors that influence immunity. Data from genetic studies conducted thus far indicate that alterations in genetic messages can significantly impact disease risk and progression. While certain genetic variations may confer protective effects, others may exacerbate disease susceptibility. This paper presents a comprehensive review of the most relevant genetic changes that influence both the risk and course of systemic sclerosis. Special emphasis is placed on factors regulating the immune response, recognizing their pivotal role in the pathogenesis of the disease.
系统性硬化症（SSc）是一种罕见的自身免疫性结缔组织疾病，其特征是大量纤维化、血管损伤和免疫失衡。过去二十年中风湿病学和免疫学的进展导致了系统性硬化症的重新定义，从最初主要将其视为“过度纤维化”状态转变为认识到系统性硬化症是一种免疫介导的疾病。因此，对遗传标志物的寻找已经从关注纤维化机制转向探索免疫调节途径。免疫遗传学是一个处于免疫学、分子生物学和遗传学交叉点的新兴领域，为影响免疫的遗传因素提供了有价值的见解。迄今为止进行的遗传研究数据表明，遗传信息的改变可显著影响疾病的风险和进展。虽然某些遗传变异可能具有保护作用，但其他遗传变异可能会加剧疾病的易感性。本文全面回顾了影响系统性硬化症风险和病程的最相关遗传变化。特别强调了调节免疫反应的因素，认识到它们在疾病发病机制中的关键作用。
