Honsawek S, Deepaisarnsakul B, Tanavalee A, Yuktanandana P, Bumrungpanichthaworn P, Malila S, Saetan N
Department of Biochemistry, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Genet Mol Res. 2011;10(3):1674-80. doi: 10.4238/vol10-3gmr1161.
Osteoarthritis is a chronic progressive degenerative joint disease characterized by age-related regressive change in articular cartilage. A single nucleotide polymorphism has been described at position -174 of the interleukin-6 (IL-6) promoter region, leading to three possible genotypes, GG, GC, and CC. We investigated a possible association of the IL-6 -174G/C gene polymorphism with knee osteoarthritis in a Thai population. Genotype distributions and allelic frequencies of the IL-6 -174G/C polymorphism were investigated in 115 knee osteoarthritis patients and 100 healthy controls. Genotyping was performed using PCR-RFLP. The genotype distribution of IL-6 was 79 GG, 36 GC, 0 CC in knee osteoarthritis patients and 88 GG, 12 GC, 0 CC in controls. The frequency of the GC genotype in subjects with knee osteoarthritis was higher than in controls (P< 0.001). Logistic regression analysis showed that the GC genotype was independently associated with increased risk of knee osteoarthritis (odds ratio = 3.3, 95% confidence interval = 1.6-6.9, P = 0.001). These findings suggest that the -174G/C polymorphism of the IL-6 gene promoter plays a role in the pathogenesis of knee osteoarthritis.
骨关节炎是一种慢性进行性退行性关节疾病，其特征是关节软骨出现与年龄相关的退行性变化。白细胞介素-6（IL-6）启动子区域-174位点存在单核苷酸多态性，导致三种可能的基因型：GG、GC和CC。我们在泰国人群中研究了IL-6 -174G/C基因多态性与膝关节骨关节炎之间的可能关联。在115例膝关节骨关节炎患者和100例健康对照中研究了IL-6 -174G/C多态性的基因型分布和等位基因频率。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行基因分型。膝关节骨关节炎患者中IL-6的基因型分布为79例GG、36例GC、0例CC，对照组为88例GG、12例GC、0例CC。膝关节骨关节炎患者中GC基因型的频率高于对照组（P<0.001）。逻辑回归分析表明，GC基因型与膝关节骨关节炎风险增加独立相关（比值比=3.3，95%置信区间=1.6-6.9，P=0.001）。这些发现提示，IL-6基因启动子的-174G/C多态性在膝关节骨关节炎的发病机制中起作用。
