Cellular Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra (IPBLN), CSIC, PTS Granada , Av. del Conocimiento 17, 18016, Armilla, Granada, Spain.
Curr Rheumatol Rep. 2019 Jul 15;21(9):44. doi: 10.1007/s11926-019-0845-6.
Nowadays, important advances have occurred in our understanding of the pathogenesis of systemic sclerosis (SSc), which is a rare immune-mediated inflammatory disease (IMID) characterized by vascular damage, immune imbalance, and fibrosis. Its etiology remains unknown; nevertheless, both environmental and genetic factors play a major role in the disease. This review will focus on the main advances made in the field of genetics of SSc.
The assessment of how interindividual genetic variability affects disease onset and progression has enhanced our knowledge of disease biology, and this will eventually translate in the development of new diagnostic and therapeutic tools, which is the final goal of personalized medicine. We will provide an overview of the most relevant achievements in the genetics of SSc, its shared genetics among IMIDs with special attention on drug repurposing, current challenges for the functional characterization of risk variants, and future directions.
如今，我们对系统性硬化症（SSc）发病机制的理解取得了重要进展，SSc 是一种罕见的免疫介导的炎症性疾病（IMID），其特征是血管损伤、免疫失衡和纤维化。其病因仍不清楚；然而，环境和遗传因素在疾病中起主要作用。本综述将重点介绍 SSc 遗传学领域的主要进展。
评估个体遗传变异如何影响疾病的发生和进展，增强了我们对疾病生物学的认识，这最终将转化为新的诊断和治疗工具的开发，这是个性化医学的最终目标。我们将概述 SSc 遗传学方面最相关的成就，以及它在 IMID 中的共同遗传学，特别关注药物再利用，目前对风险变异进行功能特征分析的挑战，以及未来的方向。
