Mohammadoo-Khorasani Milad, Salimi Saeedeh, Tabatabai Ehsan, Sandoughi Mahnaz, Zakeri Zahra, Farajian-Mashhadi Farzaneh
Cellular and Molecular Research Center, Zahedan University of Medical Sciences; Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Internal Medicine, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Indian J Med Res. 2016 May;143(5):591-6. doi: 10.4103/0971-5916.187107.
BACKGROUND & OBJECTIVES: Interleukin-1 (IL-1) is one of the pro-inflammatory cytokines that plays a main role in the regulation of immune and inflammatory responses. Interleukin 4 (IL-4) as an anti-inflammatory cytokine regulates balance between Th1 and Th2 immune responses. this study was undertaken to investigate the IL-1β and IL-4 genes polymorphisms in patients with systemic lupus erythematosus (SLE) and also association between the polymorphisms and susceptibility to SLE.
One hundred and sixty three SLE patients and 180 healthy controls were genotyped for the IL-4 VNTR (variable number tandem repeat), IL-1β C-511T and IL-1β T-31C polymorphisms by polymerase chain reaction (PCR) or PCR-RFLP (restriction fragment length polymorphism) method.
The frequencies of CC genotype and C allele of the IL-1β T-31C polymorphism were significantly (P<0.01) lower in SLE patients than controls. Moreover, the frequencies of RP1/RP2 genotype and RP2 allele of IL-4 VNTR polymorphism were significantly (P<0.05) higher in the SLE patients. No association was observed between IL-1β C-511T polymorphism and increased risk of SLE. We observed increased frequency of CT and TT genotypes of IL-1β C-511T polymorphism in SLE patients with malar rash compared to SLE patients without this manifestation.
INTERPRETATION & CONCLUSIONS: The present findings suggest that IL-1β T-31C and IL-4 VNTR polymorphisms but not IL-1β C-511T polymorphism may contribute in SLE pathogenesis. In addition, CT and TT genotypes of IL-1β C-511T polymorphism were associated with SLE.
白细胞介素-1（IL-1）是促炎细胞因子之一，在免疫和炎症反应调节中起主要作用。白细胞介素4（IL-4）作为抗炎细胞因子，调节Th1和Th2免疫反应之间的平衡。本研究旨在调查系统性红斑狼疮（SLE）患者中IL-1β和IL-4基因多态性，以及这些多态性与SLE易感性之间的关联。
采用聚合酶链反应（PCR）或PCR-限制性片段长度多态性（RFLP）方法，对163例SLE患者和180例健康对照进行IL-4可变数目串联重复序列（VNTR）、IL-1β C-511T和IL-1β T-31C多态性基因分型。
SLE患者中IL-1β T-31C多态性的CC基因型和C等位基因频率显著低于对照组（P<0.01）。此外，SLE患者中IL-4 VNTR多态性的RP1/RP2基因型和RP2等位基因频率显著高于对照组（P<0.05）。未观察到IL-1β C-511T多态性与SLE风险增加之间的关联。与无此表现的SLE患者相比，我们观察到有颧部皮疹的SLE患者中IL-1β C-511T多态性的CT和TT基因型频率增加。
目前的研究结果表明，IL-1β T-31C和IL-4 VNTR多态性而非IL-1β C-511T多态性可能在SLE发病机制中起作用。此外，IL-1β C-511T多态性的CT和TT基因型与SLE相关。
