Association of COL11A1 C4603T polymorphism with the risk of cervical and lumbar disc herniation

Aim. To evaluate the association of COL11A1 gene C4603T polymorphism with the risk of cervical and lumbar disc herniation among Ukrainian people. Materials and methods. In total, 97 patients (48 women and 49 men with a mean age of 34.49 ± 6.75 years) with lumbar and cervical disc herniation and 60 (30 women and 30 men with a mean of 35.00 ± 6.51 years) control subjects were included in the study. All participants underwent T2-weighted magnetic resonance imaging (MRI). Single nucleotide polymorphism С4603Т (rs1676486) of COL11A1 gene was detected by real-time polymerase chain reaction using Tag Man Universal PCR Master Mix (Applied Biosystems, USA) and Tag Man SNP Genotyping Assays (Applied Biosystems, USA). Results. The study revealed the association of the COL11A1 gene C4603T polymorphism with a risk of lumbar L5-S1 herniation in the dominant (OR = 3.20; 95 % CI (1.34–7.50); P < 0.008) and multiplicative models (OR = 2.82; 95 % CI (1.34–5.93); P < 0.006). A statistical association of the polymorphism with lumbar L4-L5 herniation was not found. Carriers of the 4603Т allele had a four-fold higher risk of cervical herniation in the dominant model (OR =4.00; 95 % CI (1.37–11.79); P < 0.01), and three-fold higher – in the multiplicative model (OR = 3.12; 95 % CI (1.26–7.69); P < 0.05). Conclusions. The study has shown the statistically significant association of the COL11A1 C4603T polymorphism with cervical and lumbar disc herniation among Ukrainian people. The 4603T allele presence should be considered when a sports career planning or occupational choice related to a heavy load on the cervical or lumbar spine.