Relationship between the +104T＞C polymorphism of GDF5 core promoter and spinal fusion / 中华骨科杂志

ABSTRACT

Objective To investigate the relationship between a functional single nucleotide polymorphisms(SNP) in the core promoter region of GDF5 gene(+104T＞c ;rs143383) and spinal fusion in Qingdao Han people. Methods This study included 201 patients who needed to be treated with spinal fusion and 200 healthy controls. They were all out of tuberculosis, tumor, infection, and long time of related medicine using. Their operation regions were similar, containing L4.5, C4.5, C5.6, and C6.7. The SNP was defined in all people, using PCR-restriction fragment length polymorphism (RFLP) and gene sequencing. The patients were followed-up 3,6, 12 months after operation. The conditions of bone graft fusion were carried out into different grades according to imaging. According to the common used fusion criterion, to analyze the relationship between this SNP and spinal fusion. Results The results obtained from PCR-RFLP were confirmed by gene sequencing. The patients and the healthy control all showed the SNP in this site. There were no relationship between the spinal fusion patients and the healthy control in the SNP (x2=0.304, P=0.859). But it showed correlation (x2=4.752, P=0.023) with fusing or not in the spine and the speed of fusion (x2=9.864, P=0.007)in Qingdao Han people. In the fusion group, the site rs143383 showed more C allele than the non-fusion group. T allele may affect the transcription of GDF5, thus reduce the expression of GDF5. Patients with the genotype TC+CC showed larger proportion stable fusion and faster speed than the patients with TT. Conclusion SNP in the core promoter region of GDF5 (+104T＞C) is associated with spinal fusion in Qingdao Han people. The allele C may be an important factor to promote spinal fusion. Detect the TT genotype early and intervene, the spinal fusion effect may be improved. Or, the genotype may be changed by gene technology,making the efficient fusion.