Association between a polymorphism of the transforming growth factor-β1 gene and genetic susceptibility to ossification of the posterior longitudinal ligament in Japanese patients

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.