Lo S-F, Huang C-M, Lin H-C, Chen W-C, Tsai C-H, Tsai F-J
Department of Physical Medicine and Rehabilitation, China Medical University Hospital, Taiwan.
Clin Exp Rheumatol. 2008 Jul-Aug;26(4):632-7.
The involvement of cytokines and chemokines in the pathogenesis of rheumatoid arthritis (RA) is well studied; however, the genetic bases behind this is not well understood. The aim of this study was to examine whether -572 G/C polymorphism in the IL-6 gene and 2767 A/G polymorphism in the 3'-untranslated region (UTR) of the IL-8 gene are associated with rheumatoid arthritis (RA).
We enrolled 199 RA patients and 130 normal controls. Polymerase chain reaction was used to identify the IL-6 -572G/C and IL-8 3'-UTR 2767A/G polymorphisms. The relationships between clinical manifestations of RA and the polymorphisms of each gene were investigated by comparing the genotypes among RA patients with different clinical variables.
We found no significant difference in the genotypic and allelic frequencies of the single nucleotide polymorphisms of IL-6 and IL-8 genes between RA patients and controls. Clinical characteristics such as age at onset, rheumatoid factor positivity, joint erosion and extra-articular manifestations were compared among patients with different genotypes of the IL-6 and IL-8 genes. We found that patients with IL-8 3'-UTR 2767AA genotype had a significantly younger age of onset of RA than patients without that genotype.
The IL-6 -572 G/C and IL-8 3'-UTR 2767A/G polymorphisms are not associated with the risk of developing rheumatoid arthritis. However, the finding that patients with IL-8 3'-UTR 2767AA developed RA at a younger age suggests that this genotype may influence the etiopathology of RA in patients in Taiwan. Therefore, further single nucleotide polymorphism studies of this 3'UTR region may give more novel findings and understanding of the genetic basis of rheumatoid arthritis.
细胞因子和趋化因子在类风湿关节炎(RA)发病机制中的作用已得到充分研究;然而,其背后的遗传基础尚未完全明确。本研究旨在探讨白细胞介素6(IL-6)基因-572G/C多态性和白细胞介素8(IL-8)基因3'-非翻译区(UTR)2767A/G多态性是否与类风湿关节炎(RA)相关。
我们纳入了199例RA患者和130例正常对照。采用聚合酶链反应鉴定IL-6 -572G/C和IL-8 3'-UTR 2767A/G多态性。通过比较不同临床变量的RA患者的基因型,研究RA临床表现与各基因多态性之间的关系。
我们发现RA患者和对照组之间IL-6和IL-8基因单核苷酸多态性的基因型和等位基因频率没有显著差异。比较了不同IL-6和IL-8基因基因型患者的临床特征,如发病年龄、类风湿因子阳性、关节侵蚀和关节外表现。我们发现IL-8 3'-UTR 2767AA基因型的RA患者发病年龄显著低于无该基因型的患者。
IL-6 -572G/C和IL-8 3'-UTR 2767A/G多态性与类风湿关节炎的发病风险无关。然而,IL-8 3'-UTR 2767AA基因型患者发病年龄较轻这一发现表明,该基因型可能影响台湾地区患者RA的发病机制。因此,对该3'UTR区域进行进一步的单核苷酸多态性研究可能会得出更多关于类风湿关节炎遗传基础的新发现和理解。