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 < 0.001; CC genotype P = 0.002; T allele P < 0.001). The T allele was more frequent in the case group regardless of gender (Female P = 0.018; Male P < 0.001). Significant differences were found in the genotype frequencies when stratified by gender except the comparison between the CC genotype and other genotypes combined among the female samples (P > 0.05). A semi-quantification of collagen protein in the nucleus pulposus showed that the average collagen protein content in TC group was higher than in TT group (P < 0.05).

Conclusion: Our results suggested that the GDF5 polymorphism is associated with a susceptibility to symptomatic lumbar disc herniation in the Chinese Han population and type II collagen in the nucleus pulposus may be a key factor in susceptibility to symptomatic lumbar disc herniation.