白介素1和白介素4基因多态性……

白介素1和白介素4基因多态性与狼疮易感性相关

作者：Mohammadoo-Khorasani M, et al.
翻译：北医三院柴静（chaijing16@aliyun.com）
发布：孙琳
审核：姚中强


背景和目的：白介素-1（IL-1）是在免疫和炎症应答调节中发挥重要作用的促炎细胞因子之一。IL-4是调节Th1和Th2免疫应答平衡的抗炎细胞因子。本研究旨在探究狼疮患者IL-1β和IL-4基因多态性及其与狼疮易感性之间的关系。
方法：163例狼疮患者和180例健康对照组进行了IL-4 VNTR（可变数串联重复）基因分型，使用聚合酶链式反应（PCR）或者PCR-RFLP（限制性片段长度多态性）方法检测IL-1β C-511T 和 T-31C 多态性。
结果：狼疮患者IL-1β T-31C多态中CC基因型和C等位基因频数明显低于对照组(P<0.01)。而狼疮患者IL-4VNTR 基因多态中RP1/RP2基因型和RP等位基因频数更高(P<0.05)。未观察到IL-1β C-511T多态性与狼疮风险增高之间的关系。我们观察到有颧部红斑的狼疮患者与没有该特征的狼疮患者相比IL-1β C-511T多态的CT和TT基因型频数增多。
解释和结论：目前发现提示IL-1β T-31C和IL-4 VNTR多态性而非IL-1β C-511T多态性参与了狼疮发病。此外，IL-1β C-511T多态的CT和TT基因型与狼疮有关。

附原文：Abstract BACKGROUND &OBJECTIVES:Interleukin-1 (IL-1) is one of the pro-inflammatory cytokines thatplays a main role in the regulation of immune and inflammatory responses.Interleukin 4 (IL-4) as an anti-inflammatory cytokine regulates balance betweenTh1 and Th2 immune responses. this study was undertaken to investigate theIL-1β and IL-4 genes polymorphisms in patients with systemic lupuserythematosus (SLE) and also association between the polymorphisms andsusceptibility to SLE.METHODS:One hundred and sixty three SLE patients and 180healthy controls were genotyped for the IL-4 VNTR (variable number tandemrepeat), IL-1β C-511T and IL-1β T-31C polymorphisms by polymerase chainreaction (PCR) or PCR-RFLP (restriction fragment length polymorphism)method.RESULTS:The frequencies of CC genotype and C allele of the IL-1β T-31Cpolymorphism were significantly (P<0.01) lower in SLE patients thancontrols. Moreover, the frequencies of RP1/RP2 genotype and RP2 allele of IL-4VNTR polymorphism were significantly (P<0.05) higher in the SLE patients. Noassociation was observed between IL-1β C-511T polymorphism and increased riskof SLE. We observed increased frequency of CT and TT genotypes of IL-1β C-511Tpolymorphism in SLE patients with malar rash compared to SLE patients withoutthis manifestation.INTERPRETATION &CONCLUSIONS:The present findings suggestthat IL-1β T-31C and IL-4 VNTR polymorphisms but not IL-1β C-511T polymorphismmay contribute in SLE pathogenesis. In addition, CT and TT genotypes of IL-1βC-511T polymorphism were associated with SLE.

引自：Mohammadoo-Khorasani M, Salimi S, TabatabaiE,etal.Interleukin-1β (IL-1β) & IL-4 gene polymorphisms in patients withsystemic lupus erythematosus (SLE) & their association with susceptibilityto SLE.Indian J Med Res. 2016;143(5):591-6.