Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, 825 NE 13(th), Research Tower, Suite 2202, Oklahoma City, OK 73104, USA.
Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, 825 NE 13(th), Research Tower, Suite 2202, Oklahoma City, OK 73104, USA.
J Neuroimmunol. 2022 Nov 15;372:577957. doi: 10.1016/j.jneuroim.2022.577957. Epub 2022 Aug 29.
Sarcoidosis is a systemic, inflammatory, granulomatous disease characterized by great variability in organ involvement, clinical course, and severity. While pulmonary manifestations are almost universal, the central and peripheral nervous systems can also be affected. Neurosarcoidosis occurs in ∼5-15% of cases and is among the manifestations with the highest morbidity and mortality. It is known that sarcoidosis has genetic underpinnings and while multiple studies aimed at identifying associations to sarcoidosis susceptibility and prognosis, very few studies have focused on neurosarcoidosis. This review summarizes the genetic studies to date, compares and contrasts those findings with other genetic effects in sarcoidosis, and offers ideas for moving the field forward.
结节病是一种全身性、炎症性、肉芽肿性疾病,其特征是器官受累、临床病程和严重程度变化很大。虽然肺部表现几乎普遍存在,但中枢和外周神经系统也可能受到影响。神经结节病发生在约 5-15%的病例中,是发病率和死亡率最高的表现之一。已知结节病有遗传基础,尽管有多项旨在确定与结节病易感性和预后相关的关联的研究,但很少有研究集中在神经结节病上。这篇综述总结了迄今为止的遗传研究,比较和对比了这些发现与结节病中的其他遗传效应,并为该领域的发展提供了思路。