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DNA 修复基因 OGG1 中的 C-285T 和 A5954G 多态性与类风湿关节炎易感性的关联。

Association of the C-285T and A5954G polymorphisms in the DNA repair gene OGG1 with the susceptibility of rheumatoid arthritis.

机构信息

Genetic Center, Department of Medical Research, China Medical University Hospital, Graduate Institute of Chinese Medical Science, College of Chinese Medicine, China Medical University, Taichung, Taiwan.

出版信息

Rheumatol Int. 2012 May;32(5):1165-9. doi: 10.1007/s00296-010-1738-1. Epub 2011 Jan 21.

DOI:10.1007/s00296-010-1738-1
PMID:21253737
Abstract

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 study indicated that DNA repair system was involved in the pathology of RA. In this study, we investigated the association of two 8-oxoguanine glycosylase 1 (OGG1) gene polymorphisms (rs159153 and rs3219008) with the susceptibility to RA in 384 Taiwanese individuals (192 patients with RA and 192 controls). Our data showed that statistically significant difference in genotype frequency distributions was found at rs3219008 SNP between patients with RA and control groups (P = 5.6E-0.5). Our data also indicated that individuals with the AG genotype at rs3219008 SNP may have a higher risk of developing RA. We did not observe any statistically significant association of OGG1 haplotype frequencies (rs159153 and rs3219008) with RA progression. The study suggested that OGG1 polymorphisms (rs159153 and rs3219008) are associated with RA progression and that these may be used as molecular markers of RA.

摘要

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转损伤,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 的病理学。在这项研究中,我们研究了两个 8-氧鸟嘌呤糖苷酶 1(OGG1)基因多态性(rs159153 和 rs3219008)与 384 名台湾个体(192 名 RA 患者和 192 名对照)对 RA 的易感性之间的关联。我们的数据显示,在 rs3219008 SNP 中,RA 患者和对照组之间的基因型频率分布存在统计学显著差异(P = 5.6E-0.5)。我们的数据还表明,在 rs3219008 SNP 处具有 AG 基因型的个体可能具有更高的患 RA 的风险。我们没有观察到 OGG1 单倍型频率(rs159153 和 rs3219008)与 RA 进展之间存在任何统计学显著关联。该研究表明,OGG1 多态性(rs159153 和 rs3219008)与 RA 进展相关,这些多态性可能可用作 RA 的分子标志物。

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