Blakemore A I, Tarlow J K, Cork M J, Gordon C, Emery P, Duff G W
Section of Molecular Medicine, University of Sheffield, Royal Hallamshire Hospital, UK.
Arthritis Rheum. 1994 Sep;37(9):1380-5. doi: 10.1002/art.1780370917.
We have previously described associations between an allele of the interleukin-1 receptor antagonist gene (IL1RN) and several inflammatory diseases. In this study we tested the IL1RN gene as a possible marker in patients with systemic lupus erythematosus (SLE).
Eighty-one SLE patients and 261 ethnically matched control subjects were genotyped by polymerase chain reaction.
We found an increase in both frequency and carriage rate of IL1RN*2 in the SLE group. This association strengthened with extensive disease and particularly with the presence of photosensitivity and discoid skin lesions.
We describe a novel association between IL1RN*2 and SLE. Carriage of the allele seems to influence severity rather than susceptibility to SLE. We postulate that the association of this polymorphism with disease severity is a widespread feature of common inflammatory and autoimmune diseases.
我们之前曾描述过白细胞介素-1受体拮抗剂基因（IL1RN）的一个等位基因与几种炎症性疾病之间的关联。在本研究中，我们将IL1RN基因作为系统性红斑狼疮（SLE）患者的一个可能标志物进行检测。
采用聚合酶链反应对81例SLE患者和261例种族匹配的对照受试者进行基因分型。
我们发现SLE组中IL1RN*2的频率和携带率均增加。这种关联在广泛疾病中增强，特别是在存在光敏性和盘状皮肤病变时。
我们描述了IL1RN*2与SLE之间的一种新关联。该等位基因的携带似乎影响SLE的严重程度而非易感性。我们推测这种多态性与疾病严重程度的关联是常见炎症性和自身免疫性疾病的一个普遍特征。
