Lu Ning, Lu Jianwei, Zhou Chenhe, Zhong FuHua
1 Tongde Hospital of Zhejiang Province, Department of Orthopaedics, Zhejiang, CN, P.R. China.
2 Second Affiliated Hospital's Campus in Binjiang District, School of Medicine, Zhejiang University, Department of Orthopedic Surgery, Hangzhou, Zhejiang, P.R. China.
J Int Med Res. 2017 Oct;45(5):1495-1504. doi: 10.1177/0300060517705719. Epub 2017 Jun 19.
Objective To investigate associations between single polymorphisms (SNPs) rs1800469 and rs1982073 in the transforming growth factor-β1 gene ( TGF-β1) and knee osteoarthritis (OA) susceptibility in a Chinese Han population. Methods TGF-β1 rs1800469 and rs1982073 were genotyped in patients with knee OA and age- and sex-matched OA-free controls from a Chinese Han population. The association was further analyzed according to gender and age. Results A total of 765 patients with knee OA and 780 controls were included. CT and CT + CC genotypes of rs1982073, and variant C, were associated with a significantly increased risk of knee OA. Stratification analysis showed that the association between the OA risk and rs1982073 CT heterozygotes compared with TT homozygotes was stronger in females and those aged >65 years. In contrast, CT, TT, and CT + TT genotypes of rs1800469 were not significantly associated with the risk of knee OA, even after further stratification analysis for gender and age. Conclusions The TGF-β1 rs1982073 T to C change and the variant C genotype may contribute to knee OA risk in the Chinese Han population.
目的 探讨转化生长因子-β1基因（TGF-β1）单核苷酸多态性（SNP）rs1800469和rs1982073与中国汉族人群膝骨关节炎（OA）易感性之间的关联。方法 对来自中国汉族人群的膝OA患者以及年龄和性别匹配的无OA对照者进行TGF-β1 rs1800469和rs1982073基因分型。根据性别和年龄进一步分析关联情况。结果 共纳入765例膝OA患者和780例对照者。rs1982073的CT和CT + CC基因型以及变异型C与膝OA风险显著增加相关。分层分析显示，与TT纯合子相比，OA风险与rs1982073 CT杂合子之间的关联在女性和年龄>65岁者中更强。相比之下，即使对性别和年龄进行进一步分层分析后，rs1800469的CT、TT和CT + TT基因型与膝OA风险也无显著关联。结论 TGF-β1 rs1982073的T至C改变及变异型C基因型可能与中国汉族人群膝OA风险有关。
