Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Selamicesme Goktepe sok. No:3/26 Kadikoy, Istanbul, Turkey.
Rheumatol Int. 2012 May;32(5):1265-9. doi: 10.1007/s00296-010-1725-6. Epub 2011 Jan 26.
Rheumatoid arthritis (RA) is an autoinflammatory disease with a genetic background. The synoviocytes in RA shows cellular transformation with tumor-like features, and RA patients have genomic instability and relaxation of DNA repair mechanisms. The polymorphisms in BER repair pathway genes, XRCC1 and OGG1, may change the response to inflammation via altered DNA repair capacity. In this study, we aimed to investigate the relationship between the risk of RA and XRCC1 Arg194Trp, Arg399Gln, and OGG1 Ser326Cys polymorphisms in a group of Turkish RA patients. XRCC1 Arg194Trp, Arg399Gln, and OGG1 Ser326Cys polymorphisms were investigated by PCR-RFLP method in 100 RA patients and 158 healthy control subjects. The results were statistically analyzed by calculating the odds ratios (OR) and their 95% confidence intervals (95% CI) using the χ(2)-tests. RA patients in this study had significantly higher frequencies of XRCC1 Arg399Gln polymorphism in both homozygote (GG) (35%, OR: 7.78 [95% CI: 3.65-16.59], P < 0.001) and heterozygote (AG) forms (41%, OR: 2.17 [95% CI: 1.19-3.96], P < 0.01) and also increased frequency of 399Gln (G) allele (55%, OR:2.99 [95% CI: 1.67-5.37], P < 0.001). We conclude that XRCC1 Arg194Trp, and OGG1 Ser326Cys polymorphisms are not associated with RA; however, Arg399Gln polymorphism is a significant risk factor of RA, and carriers of 399Gln (G) allele have greater risk of RA.
类风湿关节炎（RA）是一种具有遗传背景的自身炎症性疾病。RA 中的滑膜细胞表现出具有肿瘤样特征的细胞转化，RA 患者存在基因组不稳定性和 DNA 修复机制的松弛。BER 修复途径基因 XRCC1 和 OGG1 的多态性可能通过改变 DNA 修复能力改变对炎症的反应。在这项研究中，我们旨在研究 XRCC1 Arg194Trp、Arg399Gln 和 OGG1 Ser326Cys 多态性与一组土耳其 RA 患者的 RA 风险之间的关系。通过 PCR-RFLP 方法在 100 例 RA 患者和 158 例健康对照中研究了 XRCC1 Arg194Trp、Arg399Gln 和 OGG1 Ser326Cys 多态性。通过 χ(2)-检验计算比值比（OR）及其 95%置信区间（95%CI）来统计分析结果。本研究中的 RA 患者在纯合子（GG）（35%，OR：7.78 [95%CI：3.65-16.59]，P < 0.001）和杂合子（AG）形式（41%，OR：2.17 [95%CI：1.19-3.96]，P < 0.01）中 XRCC1 Arg399Gln 多态性的频率明显更高，并且 399Gln（G）等位基因的频率也增加（55%，OR：2.99 [95%CI：1.67-5.37]，P < 0.001）。我们得出结论，XRCC1 Arg194Trp 和 OGG1 Ser326Cys 多态性与 RA 无关；然而，Arg399Gln 多态性是 RA 的一个重要危险因素，携带 399Gln（G）等位基因的个体患 RA 的风险更大。
