TGF-β1基因^(29)T>C单核苷酸多态性与骨肉瘤的关联研究  

Association of the ^(29)T>C polymorphism of TGF-β1 gene with osteosarcoma

作　　者：马进峰[1] 周东生[1] 马学晓[2] 刘涛[2] 王璐璐[2] 刘勇[2] 

机构地区：[1]山东大学附属省立医院创伤骨科,济南250021 [2]青岛大学医学院附属医院脊柱外科,青岛266003

出　　处：《中国矫形外科杂志》2010年第18期1510-1513,共4页Orthopedic Journal of China

摘　　要：[目的]研究山东半岛地区汉族人群中转化生长因子β1(transforming growth factorβ1,TGF-β1)基因第一外显子29T>C单核苷酸多态性与骨肉瘤的相关关系,寻找影响骨肉瘤发病的遗传因子,为临床早期发现骨肉瘤发病的高危人群并早期诊断骨肉瘤这个难题探索一条新的有效途径。[方法]采用等位基因特异性多聚酶链反应和基因测序方法,检测2006年10月～2009年10月本院骨科骨肉瘤患者42例,男27例,女15例和从本院健康查体中心获得的100例正常对照组外周血中TGF-β1基因29T>C单核苷酸多态性情况,所得数据采用SPSS 17.0软件进行统计学处理,对照组进行Hardy-Weinberg平衡差异的检验;统计结果行X列表的x2检验,以P<0.05有统计学意义,分析其与骨肉瘤之间的相关关系。[结果]骨肉瘤患者和正常对照组均存在TGF-β1基因29T>C单核苷酸多态性,其多态性在骨肉瘤患者组和正常对照组的分布无统计学差异(P=0.101),但TT基因型与TC+CC基因型分布有统计学差异(P=0.035),表明在骨肉瘤组TT型患者多(占42.86%,高于对照组25%),证明TT基因型会减少TGF-β1基因的表达,使早期TGF-β1的抑制肿瘤作用减弱。[结论]TGF-β1基因29T>C单核苷酸多态性中,TT基因型是影响骨肉瘤发病的一个重要遗传因素。[Objective]To investigate the association between the first exon 29T>C polymorphism of transforming growth factor-β1 gene and osteosarcoma of Han nationality in Shandong Peninsula people,in order to find the genetic factors which affect the incidence of osteosarcoma and explore a new way for early clinical detection and diagnosis of high-risk groups of osteosarcoma.[Method]The single nucleotide polymorphism(SNP) was genotyped in 42 patients with osteosarcoma and 100 controls,using allele-specific PCR(AS-PCR).The situation of TGF-β1 gene 29T>C polymorphism was tested in peripheral blood of 42 patients with osteosarcoma,27 males,15 females,and 100 cases of normal control group which came from the hospital health check-up center.The data were processed using SPSS 17.0 software for statistical analysis,and the case-control association analysis was adopted to analyze Hardy-Weinberg equilibrium.The difference was analysed with χ2 test with contingency table method to analyze the correlation between it and osteosarcoma.[Result]The SNP showed that there were 29T>C polymorphism of transforming growth factor-β1 gene in both the osteosarcoma patients and normal control group,and no significant differences were observed in the distribution(P=0.101).The TC+CC genotype and TT genotype were significantly different(P=0.035),and there were more TT types in the osteosarcoma group.It indicated that the TT genotype could reduce the expression of the transforming growth factor-β1 gene and increase the risk of osteosarcoma.[Conclusion]The TT genotype among 29T>C polymorphism of TGF-β1 gene may be a genetic factor that arouse osteosarcoma.

关 键 词：转化生长因子Β1 骨肉瘤 多态性 等位基因特异性多聚酶链反应 

分 类 号：R738.1[医药卫生—肿瘤]