Mohamed Randa H, El-Shal Amal S, El-Shahawy Eman E, Abdel Galil Sahar M
Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Gene. 2016 Mar 1;578(1):112-6. doi: 10.1016/j.gene.2015.12.021. Epub 2015 Dec 9.
Rheumatoid arthritis (RA) is a chronic autoimmune disease and can lead to deformities and severe disabilities, due to irreversible damage of tendons, joints, and bones. Previous studies indicated that the DNA repair system was involved in the pathology of RA. In this study, we investigated the association of two XRCC1 (X-ray repair cross-complementing group 1) (rs25487 and rs25489) gene polymorphisms and two OGG1 (8-oxoguanine glycosylase 1) gene polymorphisms (rs159153 and rs3219008) with the susceptibility to RA in 320 Egyptians individuals (160 RA patients and 160 controls). Genotyping was performed using restriction fragment length polymorphism polymerase chain reaction. We found an association between variant XRCC1 (rs25487 and rs25489) genotype polymorphisms, OGG1 (rs3219008) genotype polymorphism, and RA disease susceptibility. Moreover, the presence of the Gln/Gln, Arg/His, and His/His genotypes of XRCC1 was significantly more likely to have bone erosion and extra-articular features in RA patients. Further, patient's carrying the OGG1 A/G and G/G genotypes more likely to have bone erosion. However, the AA genotype and A allele were significantly more likely to have extra-articular features. Also, there were no significant associations between C/T OGG1 gene polymorphism and RA susceptibility, bone erosion, and extra-articular features occurrence in RA patients. We concluded that the XRCC1-Arg/Gln, XRCC1-Arg/His, and OGG1 A/G polymorphism have a role in the development of rheumatoid arthritis disease. Also, these variant are associated with the severity of RA.
类风湿性关节炎（RA）是一种慢性自身免疫性疾病，由于肌腱、关节和骨骼的不可逆损伤，可导致畸形和严重残疾。先前的研究表明，DNA修复系统参与了RA的病理过程。在本研究中，我们调查了320名埃及人（160例RA患者和160名对照）中两种XRCC1（X射线修复交叉互补组1）（rs25487和rs25489）基因多态性以及两种OGG1（8-氧鸟嘌呤糖基化酶1）基因多态性（rs159153和rs3219008）与RA易感性的关系。使用限制性片段长度多态性聚合酶链反应进行基因分型。我们发现变异的XRCC1（rs25487和rs25489）基因型多态性、OGG1（rs3219008）基因型多态性与RA疾病易感性之间存在关联。此外，XRCC1的Gln/Gln、Arg/His和His/His基因型在RA患者中更有可能出现骨侵蚀和关节外表现。此外，携带OGG1 A/G和G/G基因型的患者更有可能出现骨侵蚀。然而，AA基因型和A等位基因更有可能出现关节外表现。此外，OGG1基因C/T多态性与RA易感性、骨侵蚀以及RA患者关节外表现的发生之间没有显著关联。我们得出结论，XRCC1-Arg/Gln、XRCC1-Arg/His和OGG1 A/G多态性在类风湿性关节炎疾病的发展中起作用。此外，这些变异与RA的严重程度相关。
