CAJ | 학술논문

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。
목적：관찰골육류환자Ⅰ형효원α1（COL1A1）기인다태성，탐토골육류여COL1A1기인다태성적상관성。방법수집골육류이급정상환자외주혈양본，응용초린산측서방법（Pyrosequencing）대54례골육류환자여126례건강대조자COL1A1기인rs1061970위점진행분석。결과54례골육류환자COL1A1rs1061970위점기인형빈솔중，TT（13.0%）화CT（48.1%）요현저고우정상대조조TT기인형빈솔11.9%급CT등위기인빈솔30.2%（P＜0．05），골육류환자조중T등위기인적빈솔위37.0%，고우대조조적27.0%，OR위1.59，95%CI 0.99~2.57，차이무통계학의의（P＞0．05），단시골육류적발병풍험잉정상승추세。결론COL1A1기인다태성여골육류적발생구유상관성，휴대COL1A기인T등위기인적발생골육류적풍험증고。
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.