Center of Orthopedic Surgery, Orthopedic Oncology Institute of PLA, Tangdu Hospital, Fourth Military Medical University, 710038, Xi'an, China.
Med Oncol. 2011 Jun;28(2):622-5. doi: 10.1007/s12032-010-9483-6. Epub 2010 Mar 31.
The TGF-beta signaling pathway is important in the development and invasion of cancers. Int7G24A is an intronic variant of TGF-beta receptor type 1 and has been shown to be associated with the occurrence of some kinds of cancers. Nevertheless, the association of this polymorphism with osteosarcoma is unknown. In this study, we evaluated Int7G24A variant frequencies in osteosarcoma cases. The case-control study involved 168 osteosarcoma patients and 168 age- and gender-matched controls. The blood samples were obtained, and Int7G24A variant was determined by PCR amplification and DNA sequencing. The odds ratio (OR) and 95% confidence interval (95% CI) for the Int7G24A polymorphism were calculated using unconditional logistic regression adjusted for age and gender. Three analysis models, which are the dominant model, additive model and recessive model, were used to analyze the contribution of Int7G24A variant to osteosarcoma susceptibility. Heterozygotic and homozygotic Int7G24A variants were 33.93 and 6.55% in total 168 cases, while they were 28.57 and 2.98%, respectively, in total 168 controls. The ORs for homozygosity and heterozygosity of Int7G24A allele were 1.56 [95% CI, 0.98-1.83] and 2.89 [95% CI, 1.46-4.92] in additive model. The ORs of Int7G24A genotypes in dominant model and in recessive model were 1.75 [95% CI, 1.21-2.68] and 2.21 [95% CI, 1.34-4.72], respectively. There were significant increases in Int7G24A variants in osteosarcoma cases when compared to control in every three models. Further analysis showed that Int7G24A genotypes were not associated with gender and osteosarcoma location of the cases. However, Int7G24A was significantly increased in the cases less than 20 years old. Moreover, Int7G24A was significantly associated with increased distant metastasis of osteosarcoma. It is concluded that Int7G24A is a polymorphism of TGFBR1 that is associated with the susceptibility and distant metastasis of osteosarcoma.
TGF-β 信号通路在癌症的发生和侵袭中起着重要作用。Int7G24A 是 TGF-β 受体 1 的内含子变异体，已被证明与某些类型的癌症的发生有关。然而，这种多态性与骨肉瘤的关系尚不清楚。在这项研究中，我们评估了骨肉瘤病例中 Int7G24A 变异的频率。病例对照研究涉及 168 例骨肉瘤患者和 168 名年龄和性别匹配的对照。采集血样，通过 PCR 扩增和 DNA 测序确定 Int7G24A 变异。使用调整年龄和性别的非条件逻辑回归计算 Int7G24A 多态性的比值比（OR）和 95%置信区间（95%CI）。使用显性模型、加性模型和隐性模型三种分析模型，分析 Int7G24A 变异对骨肉瘤易感性的贡献。在总共 168 例病例中，杂合和纯合 Int7G24A 变异分别为 33.93%和 6.55%，而在总共 168 例对照中，分别为 28.57%和 2.98%。在加性模型中，Int7G24A 等位基因纯合和杂合的 OR 分别为 1.56（95%CI，0.98-1.83）和 2.89（95%CI，1.46-4.92）。在显性模型和隐性模型中，Int7G24A 基因型的 OR 分别为 1.75（95%CI，1.21-2.68）和 2.21（95%CI，1.34-4.72）。在每个模型中，与对照组相比，骨肉瘤病例中 Int7G24A 变异均显著增加。进一步分析表明，Int7G24A 基因型与病例的性别和骨肉瘤部位无关。然而，Int7G24A 在年龄小于 20 岁的病例中显著增加。此外，Int7G24A 与骨肉瘤远处转移的增加显著相关。结论：Int7G24A 是 TGFBR1 的一种多态性，与骨肉瘤的易感性和远处转移有关。
Zotero 插件