Chen Jie, Wu Yu, Yu Jiannong, Shen Jinming
Department of Orthopaedics, Zhejiang Provincial Hospital of Traditional Chinese Medicine, Hangzhou, Zhejiang, China.
Braz J Med Biol Res. 2018;51(8):e7311. doi: 10.1590/1414-431x20187311. Epub 2018 May 28.
Osteoarthritis (OA) is the most common degenerative disease affecting articular cartilage. Some studies indicate that tumor necrosis factor alpha (TNF-α) gene rs1800629 polymorphism was associated with OA risk among Caucasian populations. To examine the role of this candidate gene in Asian populations, we conducted a hospital-based case-control study involving 257 knee OA patients and 305 controls in a Chinese population. Genotyping was performed using a custom-by-design 48-Plex single nucleotide polymorphism (SNP) Scan™ kit. Our study indicated that the AA genotype of TNF-α rs1800629 polymorphism was associated with increased risk of OA. Subsequently, we conducted a meta-analysis and found that rs1800629 polymorphism increased the risk of OA in the recessive and homozygous models. Stratification analysis of ethnicity also obtained a significant association among Asian populations. In conclusion, TNF-α rs1800629 polymorphism confers susceptibility to OA, especially among Asians. Larger studies with more diverse ethnic populations are needed to confirm these results.
骨关节炎（OA）是影响关节软骨的最常见退行性疾病。一些研究表明，肿瘤坏死因子α（TNF-α）基因rs1800629多态性与白种人群的OA风险相关。为了研究这个候选基因在亚洲人群中的作用，我们在中国人群中开展了一项基于医院的病例对照研究，纳入了257例膝骨关节炎患者和305例对照。使用定制的48重单核苷酸多态性（SNP）扫描™试剂盒进行基因分型。我们的研究表明，TNF-α rs1800629多态性的AA基因型与OA风险增加相关。随后，我们进行了一项荟萃分析，发现rs1800629多态性在隐性和纯合子模型中增加了OA风险。种族分层分析在亚洲人群中也获得了显著关联。总之，TNF-α rs1800629多态性赋予了对OA的易感性，尤其是在亚洲人中。需要开展更多涉及更多不同种族人群的研究来证实这些结果。
