Biochemistry Department, Zagazig University, Zagazig, Egypt.
Cell Immunol. 2012;273(1):67-72. doi: 10.1016/j.cellimm.2011.11.005. Epub 2011 Dec 4.
Rheumatoid arthritis (RA) is the most common cause of adult inflammatory arthritis. Recent genome-wide association scans have disclosed several single-nucleotide polymorphisms associated with RA susceptibility. The aim of this study was to determine whether the polymorphisms of TRAF1/C5 (tumor necrosis factor (TNF)-receptor associated factor 1)/(complement component 5) and STAT4 (signal transducers and activators of transcription 4) confer susceptibility, activity and severity to RA in Egyptian populations. One hundred and seventy-two RA patients and 160 controls were enrolled in the study. Polymorphisms of TRAF1/C5 and STAT4 genes were determined using restriction fragment length polymorphism-polymerase chain reaction. The TRAF1/C5 A and STAT4 T alleles were significantly associated with RA in Egyptian population. TRAF1/C5 A allele and STAT4 TT genotype were significantly associated with RA severity. In conclusion the mutant alleles or genotypes of both examined polymorphisms are associated with the development of RA in Egyptian population.
类风湿关节炎（RA）是最常见的成人炎症性关节炎。最近的全基因组关联扫描已经揭示了几个与 RA 易感性相关的单核苷酸多态性。本研究的目的是确定 TRAF1/C5（肿瘤坏死因子（TNF）-受体相关因子 1/（补体成分 5）和 STAT4（信号转导和转录激活因子 4）的多态性是否赋予埃及人群 RA 的易感性、活性和严重程度。研究纳入了 172 例 RA 患者和 160 例对照。采用限制性片段长度多态性-聚合酶链反应（PCR）检测 TRAF1/C5 和 STAT4 基因的多态性。TRAFl/C5A 等位基因和 STAT4T 等位基因与埃及人群的 RA 显著相关。TRAFl/C5A 等位基因和 STAT4TT 基因型与 RA 严重程度显著相关。总之，这两种检测多态性的突变等位基因或基因型与埃及人群 RA 的发生有关。
