Clay F E, Cork M J, Tarlow J K, Blakemore A I, Harrington C I, Lewis F, Duff G W
Section of Molecular Medicine, Royal Hallamshire Hospital, Sheffield, UK.
Hum Genet. 1994 Oct;94(4):407-10. doi: 10.1007/BF00201602.
Cytokines play key roles in immune responses, inflammation and fibrosis. The balance between levels of cytokines, their receptors and specific inhibitors controls inflammatory reactions in tissues. The pathogenesis of lichen sclerosus is unknown but probably involves cytokine mediators such as interleukin 1 (IL-1) and interleukin 1 receptor antagonist (IL-1ra). The IL-1ra is a competitive inhibitor of IL-1 alpha and IL-1 beta, and therefore is a powerful endogenous anti-inflammatory molecule. The gene encoding IL-1ra (designated IL-1RN) has a variable number tandem repeat polymorphism in intron 2. There are five alleles of the gene corresponding to 2, 3, 4, 5 and 6 repeats of an 86-bp sequence. We have determined allele frequencies in a control population and a group of 78 patients with lichen sclerosus. The frequency of one of the alleles is related to increasing disease severity. Thus, IL-1RN may be a candidate gene or severity factor for lichen sclerosus or may possibly be a linked marker to another, as yet undefined, gene.
细胞因子在免疫反应、炎症和纤维化过程中发挥关键作用。细胞因子水平、其受体及特异性抑制剂之间的平衡控制着组织中的炎症反应。硬化性苔藓的发病机制尚不清楚，但可能涉及细胞因子介质，如白细胞介素1（IL-1）和白细胞介素1受体拮抗剂（IL-1ra）。IL-1ra是IL-1α和IL-1β的竞争性抑制剂，因此是一种强大的内源性抗炎分子。编码IL-1ra的基因（命名为IL-1RN）在第2内含子中有可变数量的串联重复多态性。该基因有五个等位基因，分别对应一个86碱基对序列的2、3、4、5和6次重复。我们已确定了一个对照人群和一组78例硬化性苔藓患者的等位基因频率。其中一个等位基因的频率与疾病严重程度增加有关。因此，IL-1RN可能是硬化性苔藓的候选基因或严重程度因子，或者可能是与另一个尚未明确的基因相关的标记物。
