Association between a polymorphism of the transforming growth factor-β1 gene and genetic susceptibility to ossification of the posterior longitudinal ligament in Japanese patients
Association between a polymorphism of the transforming growth factor-β1 gene and genetic susceptibility to ossification of the posterior longitudinal ligament in Japanese patients
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DOI：
10.1097/00007632-200106010-00017
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发表时间：
2001-06-01
期刊：
影响因子：
3
通讯作者：
Yamada, Y
中科院分区：
文献类型：
--
作者：
Kamiya, M;Harada, A;Yamada, Y
研究设计.一项研究旨在确定转化生长因子-β 1（TGF-β 1）基因多态性与后纵韧带骨化（OPLL）患病率之间的关系。研究日本受试者中TGF-β 1基因T869 -->C多态性是否与OPLL的遗传易感性相关。在后纵韧带，OPLL与钙代谢异常有关。几个候选基因与OPLL的患病率相关。在OPLL的骨化基质和邻近软骨区域的软骨细胞中，TGF-β 1过表达。采用等位基因特异性聚合酶链反应方法对319名日本受试者（46名OPLL受试者和273名对照受试者）的TGF-β 1基因型进行鉴定。T869 -->C基因型与颈椎OPLL患病率显著相关。多变量logistic回归分析，调整性别，年龄，身高，体重，显示Callele的频率在OPLL受试者中显著高于对照组。TGF-β 1基因的T869 -->C多态性是OPLL易感性的遗传决定因素，C等位基因代表日本受试者中OPLL遗传易感性的危险因素。因此，TGF-β 1基因分型可能有助于预防OPLL。
Study Design. A study was conducted to determine the association between polymorphism of the transforming growth factor-beta1 (TGF-beta1) gene and ossification of the posterior longitudinal ligament (OPLL) prevalence.Objective. To examine whether the T869 -->C polymorphism of the TGF-beta1 gene is associated with genetic susceptibility to OPLL in Japanese subjects.Summary of Background Data. In the posterior longitudinal ligament, OPLL is associated with abnormal calcium metabolism. Several candidate genes are associated with the prevalence of OPLL. In the ossified matrix and chondrocytes of adjacent cartilaginous areas of OPLL, TGF-beta1 is overexpressed.Methods. The TGF-beta1 genotype was identified with an allele-specific polymerase chain reaction method in 319 Japanese subjects (46 subjects with OPLL and 273 control subjects).Results. There was a significant association between the T869 -->C genotype and the prevalence of OPLL in the cervical spine. Multivariable logistic regression analysis, adjusted for gender, age, height, and body weight, showed that the frequency of the Callele was significantly higher in subjects with OPLL than in control subjects.Conclusions. The T869 -->C polymorphism of the TGF-beta1 gene is a genetic determinant of a predisposition to OPLL, with the C allele representing a risk factor for genetic susceptibility to OPLL in Japanese subjects. Therefore, TGF-beta1 genotyping may be useful in the prevention of OPLL.