Sánchez Elena, Sabio José M, Callejas José L, de Ramón Enrique, Garcia-Portales Rosa, García-Hernández Francisco J, Jiménez-Alonso Juan, González-Escribano Ma Francisca, Martín Javier, Koeleman Bobby P
Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.
BMC Med Genet. 2006 May 23;7:48. doi: 10.1186/1471-2350-7-48.
Several lines of evidence suggest that chemokines and cytokines play an important role in the inflammatory development and progression of systemic lupus erythematosus. The aim of this study was to evaluate the relevance of functional genetic variations of RANTES, IL-8, IL-1alpha, and MCP-1 for systemic lupus erythematosus.
The study was conducted on 500 SLE patients and 481 ethnically matched healthy controls. Genotyping of polymorphisms in the RANTES, IL-8, IL-1alpha, and MCP-1 genes were performed using a real-time polymerase chain reaction (PCR) system with pre-developed TaqMan allelic discrimination assay.
No significant differences between SLE patients and healthy controls were observed when comparing genotype, allele or haplotype frequencies of the RANTES, IL-8, IL-1alpha, and MCP-1 polymorphisms. In addition, no evidence for association with clinical sub-features of SLE was found.
These results suggest that the tested functional variation of RANTES, IL-8, IL-1alpha, and MCP-1 genes do not confer a relevant role in the susceptibility or severity of SLE in the Spanish population.
多项证据表明，趋化因子和细胞因子在系统性红斑狼疮的炎症发展及进程中发挥重要作用。本研究旨在评估RANTES、白细胞介素-8（IL-8）、白细胞介素-1α（IL-1α）和单核细胞趋化蛋白-1（MCP-1）的功能基因变异与系统性红斑狼疮的相关性。
对500例系统性红斑狼疮患者和481例种族匹配的健康对照者进行研究。采用预开发的TaqMan等位基因鉴别分析实时聚合酶链反应（PCR）系统，对RANTES、IL-8、IL-1α和MCP-1基因的多态性进行基因分型。
比较RANTES、IL-8、IL-1α和MCP-1多态性的基因型、等位基因或单倍型频率时，未观察到系统性红斑狼疮患者与健康对照者之间存在显著差异。此外，未发现与系统性红斑狼疮临床亚特征相关的证据。
这些结果表明，所检测的RANTES、IL-8、IL-1α和MCP-1基因功能变异在西班牙人群系统性红斑狼疮的易感性或严重程度方面不具有相关作用。
