Data from: Association between COL11A1 (rs1337185) and ADAMTS5 (rs162509) gene polymorphisms and lumbar spine pathologies in Chinese Han population: an observational study

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 LDD patients and 400 normal controls. Outcome measures: LDD Patients were classified into 4 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 2 aspects: environmental factors and SNP genotyping. The environmental factors were evaluated with a questionnaire survey including questions about BMI, 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 LDD patients 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= 1.21-2.68; P=0.003, adjusted P=0.012), and the presence of spinal stenosis and spondylolisthesis (OR=1.92; 95%CI=1.29-2.89; 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=1.20-2.09; P=0.001, adjusted P=0.004). Conclusions: 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.