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Abstract
Objectives A previous study identified a significant association between several single nucleotide polymorphisms (SNPs) and lumbar disc degeneration (LDD) in Indians. To validate the association between these SNPs and specific lumbar spine pathologies, we performed a case–control study in Chinese Han population.
Design An observational study.
Setting University Hospital in Nanning, China.
Participants This study included 428 patients with LDD and 400 normal controls.
Outcome measures Patients with LDD were classified into four subgroups, including disc herniation only (subgroup 1), discopathies or/and osteochondrosis associated with disc herniation (subgroup 2), spinal stenosis or/and spondylolisthesis (subgroup 3) and degenerative scoliosis (subgroup 4). This study was conducted by examining two aspects: environmental factors and SNP genotyping. The environmental factors were evaluated with a questionnaire survey including questions about body mass index, smoking habits, the physical demands of their job and exposure to vibrations. Rs1337185, rs5275, rs5277, rs7575934, rs3213718 and rs162509 were genotyped using a PCR-based invader assay.
Results The physical workload was significantly higher in patients with lumbar spine pathologies than in the normal controls (p=0.035). The genotype and allele frequencies of rs1337185 and rs162509 were significantly different between the patients with LDD and the normal controls. In rs1337185, a significant association was found between the C allele (risk allele) and the presence of disc herniation (OR=1.80; 95% CI 1.21 to 2.68; p=0.003, adjusted p=0.012) and the presence of spinal stenosis and spondylolisthesis (OR=1.92; 95% CI 1.29 to 2.89; p=0.001, adjusted p=0.004). In rs162509, the G allele represented 1.58-fold increased risk to suffer from disc herniation (OR=1.58; 95% CI 1.20 to 2.09; p=0.001, adjusted p=0.004).
Conclusion The SNPs rs1337185 in COL11A1 and rs162509 in ADAMTS5 are associated with susceptibility to LDD. The C allele of rs1337185 is risky for patients who are affected by lumbar pathologies such as disc herniation, stenosis and spondylolisthesis. The G allele of rs16250 represents a risk factor for the development of disc herniation.
- disc degeneration
- environmental factor
- genetics
- single nucleotide polymorphism
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Footnotes
Contributors HJ carried out the molecular genetic studies, participated in its design and coordination and drafted the manuscript. JJ participated in the molecular genetic studies and the sequence alignment. QY and XZ performed the statistical analysis and participated in the design of the study. ZX conceived of the study and participated in its design and coordination and helped to draft the manuscript.
Funding This work was supported by the Natural Science Foundation of China (81460353), Guangxi Natural Science Foundation (2015GXNSFBA139167) and Youth Science Foundation of Guangxi Medical University (GXMUYSF201329).
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement Extra data can be accessed via the Dryad data repository at http://datadryad.org/with the doi:10.5061/dryad.5cd20.