转化生长因子β1基因29T>C单核苷酸多态性与脊柱融合的相关性

Association between 29T>C single nucleotide polymorphism of transforming growth factor-beta 1 gene and spinal fusion

背景:影响脊柱融合的因素很多,但对转化生长因子β1基因变化与脊柱融合相关关系的报道较为少见。目的:探讨转化生长因子β1基因第一外显子29T>C单核苷酸多态性与脊柱融合的相关关系。设计、时间及地点:基因多态性观察实验,2007-07/2008-05在青岛大学医学院附属医院分子中心实验室完成。对象:山东半岛汉族人200名正常人和210例颈腰椎植骨的手术患者。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210例脊柱融合患者和200名正常对照组外周血中转化生长因子β1基因29T>C单核苷酸多态性情况,并根据影像学的表现对植骨融合状况进行分级,分析其与脊柱术后植骨融合疗效之间的关系。主要观察指标:转化生长因子β1基因29T>C单核苷酸多态与脊柱植骨融合是否有相关性。结果:脊柱融合患者和正常对照组均存在转化生长因子β1基因29T>C单核苷酸多态性,其多态性在脊柱融合组和正常对照组的分布无显著性差异(P=0.707),但转化生长因子β1基因29T>C单核苷酸多态性的分布差异与颈椎前路自体髂骨椎间植骨融合程度之间存在相关性(P=0.001),与腰椎横突间植骨融合程度之间不存在相关性(P=0.647)。结论:转化生长因子β1基因29T>C单核苷酸多态性中TT基因型可能是促进颈椎前路自体髂骨椎间植骨融合的一个重要遗传因素;而腰椎横突间植骨融合影响因素较多,需要进一步深入研究。

BACKGROUND： Many factors influence spinal fusion, however, there are few reports regarding the association of polymorphism of transforming growth factor- β 1 （TGF-β 1） gene with spinal fusion OBJECTIVE： To explore the association of the first exon 29T〉C polymorphism of TGF- β 1 gene with spinal fusion. DESIGN, TIME AND SETTING： The observation and experiment of gene polymorphism was performed at Molecular Medical Lab the Affiliated Hospital of Medical College, Qingdao University between July 2007 and May 2008. PARTICIPANTS： Two hundred health adults and 210 patients with cervical vertebrae or lumbar bone graft in Shandong peninsula METHODS： The first exon 29T〉C polymorphism of TGF- β 1 gene was analyzed by allele-specific PCR and gene sequencing methods in peripheral blood of 210 patients with spinal fusion and 200 healthy controls. The conditions of bone graft fusion were carried out into different grades according to imaging. At the same time, the association of the 29T〉C polymorphism of TGF- β 1 with spinal fusion was measured. MAIN OUTCOME MEASURES： Whether there is association between the 29T〉C Polymorphism of transforming growth factor- β 1 gene and spinal fusion. RESULTS： There were the 29T〉C polymorphisms of TGF-β 1 gene in two groups, which was no significant difference between the two groups （P=-0.707）. The distribution of the 29T〉C polymorphism of TGF- β1 gene in the cases was related with the degree of C-spine auto-ilium graft interbody fusion （P=0.001）, but was no related with the degree of bone graft fusion inter transverse process of the lumbar vertebra （P=-0.647）. CONCLUSION： TT genotype among 29T〉C polymorphisms of TGF- β 1 gene may be a factor which promote C-spine auto-ilium graft fusion. There are many factors which affect bone graft fusions inter transverse process of lumbar vertebra, which needs further explored.