Rheumatology Research Unit, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
Clin Rheumatol. 2011 Mar;30(3):409-13. doi: 10.1007/s10067-010-1640-y. Epub 2010 Dec 14.
Interleukin-6 (IL-6) is a multifunctional cytokine with an important pathophysiological role in systemic lupus erythematosus (SLE). The polymorphism of the IL-6 gene promoter at position -174, which appears to influence the production of this cytokine, has been associated with susceptibility to some rheumatic diseases. The aim of this study is to investigate whether the IL-6 -174 G/C polymorphism associates with lupus susceptibility or affects disease characteristics in Portuguese patients with SLE. The association between -174 G/C and lupus diagnosis was studied in 115 adult SLE patients (95.7% females) and 152 healthy controls (94.7% females), all Caucasians. There were no significant differences in genotype or allele frequency between patients and controls. The -174 C/C genotype was independently associated with renal disease and the C allele with the presence of irreversible damage. The IL-6 gene promoter polymorphism at position -174 does not contribute to SLE susceptibility in Portuguese Caucasian patients but may predispose to specific manifestations of the disease.
白细胞介素-6（IL-6）是一种多功能细胞因子，在系统性红斑狼疮（SLE）中有重要的病理生理学作用。IL-6 基因启动子位置-174 的多态性似乎影响这种细胞因子的产生，与一些风湿性疾病的易感性有关。本研究旨在探讨 IL-6-174G/C 多态性是否与狼疮易感性相关，或是否影响葡萄牙 SLE 患者的疾病特征。在 115 例成年 SLE 患者（95.7%为女性）和 152 例健康对照者（94.7%为女性）中研究了-174G/C 与狼疮诊断的关系，所有患者均为白种人。患者与对照组之间基因型或等位基因频率无显著差异。-174C/C 基因型与肾脏疾病独立相关，C 等位基因与不可逆损伤有关。IL-6 基因启动子位置-174 的多态性不能增加葡萄牙白种人 SLE 患者的易感性，但可能易患该疾病的特定表现。
