Genetic Center, Department of Medical Research, Taichung, Taiwan.
J Appl Genet. 2010;51(4):519-21. doi: 10.1007/BF03208883.
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. A previous study indicated that a DNA repair system was involved in the development of RA. In this study, we investigated the association of four N-methylpurine-DNA glycosylase (MPG) gene polymorphisms (rs3176364, rs710079, rs2858056, and rs2541632) with susceptibility to RA in 384 Taiwanese individuals (192 RA patients and 192 control subjects). Our data show a statistically significant difference in genotype frequency distributions at rs710079 and rs2858056 SNPs between RA patients and control groups (P = 0.040 and 0.029, respectively). Our data also indicated that individuals with the GG genotype at rs2858056 SNP may have a higher risk of developing RA. In addition, compared with the haplotype frequencies between case and control groups, individuals with the GCGC haplotype appeared to be at a greater risk of RA progression (P = 0.003, OR = 1.75; 95% CI = 1.20-1.55). Our results suggest that rs710079 and rs2858056 polymorphisms and the GCGC haplotype in the MPG gene are associated with the risk of RA progression, and thus may be used as molecular markers of RA if they are confirmed by further research.
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 的发展。在这项研究中,我们研究了四个 N-甲基嘌呤-DNA 糖基化酶(MPG)基因多态性(rs3176364、rs710079、rs2858056 和 rs2541632)与 384 名台湾个体(192 名 RA 患者和 192 名对照)易感性的关联。我们的数据显示,RA 患者和对照组之间 rs710079 和 rs2858056 SNP 的基因型频率分布存在统计学上的显著差异(分别为 P = 0.040 和 0.029)。我们的数据还表明,rs2858056 SNP 处 GG 基因型的个体可能有更高的 RA 发病风险。此外,与病例组和对照组之间的单倍型频率相比,GC 单倍型个体似乎有更高的 RA 进展风险(P = 0.003,OR = 1.75;95%CI = 1.20-1.55)。我们的结果表明,MPG 基因中的 rs710079 和 rs2858056 多态性和 GCGC 单倍型与 RA 进展的风险相关,因此如果通过进一步研究得到证实,它们可能被用作 RA 的分子标志物。