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


ABSTRACT: 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.

SUBMITTER: Mu J 

PROVIDER: S-EPMC3940781 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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

Mu Jihong J   Ge Weiming W   Zuo Xincheng X   Chen Yuxuan Y   Huang Changlin C  

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 20131009 3


<h4>Purpose</h4>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.<h4>Methods</h4>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-ei  ...[more]

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