Association between a polymorphism of the transforming growth factor-beta 1 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 po lymorphism of the transforming growth factor-beta1 (TGF-beta1) gene and oss ification of the posterior longitudinal ligament (OPLL) prevalence. Objective. To examine whether the T869 -->C polymorphism of the TGF-beta1 g ene 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 a ssociated with the prevalence of OPLL. In the ossified matrix and chondrocy tes of adjacent cartilaginous areas of OPLL, TGF-beta1 is overexpressed. Methods. The TGF-beta1 genotype was identified with an allele-specific poly merase chain reaction method in 319 Japanese subjects (46 subjects with OPL L 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 r egression analysis, adjusted for gender, age, height, and body weight, show ed that the frequency of the Callele was significantly higher in subjects w ith 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 r isk factor for genetic susceptibility to OPLL in Japanese subjects. Therefo re, TGF-beta1 genotyping may be useful in the prevention of OPLL.