A SNP in the 5′UTR of GDF5 is associated with susceptibility to symptomatic lumbar disc herniation in the Chinese Han population

Purpose The aim of the present study is to assess whether the single nucleotide polymorphism in the GDF5 (+104T/C; rs143383) is associated with the symptomatic lumbar disc herniation in the Chinese Han population and the identification of the mechanisms of its action. Methods This study consisted of 231 patients with symptomatic lumbar disc herniation as the case group and 370 patients who had a lifetime lack of symptoms as the control group. PCR products were genotyped. Thirty-eight disc specimens derived from the cases were analyzed by immunohistochemical staining. The stain intensity of immunohistochemistry was quantified using a computerized image analysis system. Results Significant differences in genotypic and allelic frequencies were found between case group and control group (TT genotype P