焦磷酸测序用于COL1A1基因多态性与骨肉瘤易感性关系分析

摘要

Objective To study the correlationship between type Ⅰcollagenα1 (COL1A1) gene polymorphism and the occurrence of osteosarcoma. Methods Peripheral blood from 54 patients with osteosarcoma and 126 normal ones were collected, rs1061970 genotype of COL1A1 gene was amplified with PCR and products were analyzed by pyrosequencing among the samples. Results The allele frequency of TT (13.0%) and CT (48.1%) was significantly higher in pathologi-cal group than that in the normal control group, which manifested a allele frequency of TT(11.9%) and CT(30.2%) (P<0.05). Additionally, allele frequency of T in patients with osteosarcoma was 37.0%, higher than the control group (27.0%), with OR of 1.59 and 0.99-2.57 of 95%CI, with no difference of statistically significant (P>0.05), but the risk was still on the rise of osteosarcoma. Conclusion COL1A1 gene polymorphism may be related with the incidence of osteosarcoma, patients who carry the T allele of gene of COL1A1 may increase the risk of osteosarcoma occurrence.%目的：观察骨肉瘤患者Ⅰ型胶原α1（COL1A1）基因多态性，探讨骨肉瘤与COL1A1基因多态性的相关性。方法收集骨肉瘤以及正常患者外周血样本，应用焦磷酸测序方法（Pyrosequencing）对54例骨肉瘤患者与126例健康对照者COL1A1基因rs1061970位点进行分析。结果54例骨肉瘤患者COL1A1rs1061970位点基因型频率中，TT（13.0%）和CT（48.1%）要显著高于正常对照组TT基因型频率11.9%及CT等位基因频率30.2%（P＜0．05），骨肉瘤患者组中T等位基因的频率为37.0%，高于对照组的27.0%，OR为1.59，95%CI 0.99~2.57，差异无统计学意义（P＞0．05），但是骨肉瘤的发病风险仍呈上升趋势。结论COL1A1基因多态性与骨肉瘤的发生具有相关性，携带COL1A基因T等位基因的发生骨肉瘤的风险增高。