The IL-1β (+3953 T/C) gene polymorphism associates to symptomatic lumbar disc herniation.

To determine whether polymorphisms (SNPs) in the genes encoding cytokines and nitric oxide synthase (NOS) might play some role in lumbar disc herniation (LDH). Case-control study in which 179 patients were retrospectively reviewed. The case group was made of 50 patients with symptomatic LDH diagnosed by MRI while the control group was made of 129 individuals undergoing routine hip or knee arthroplasty with a lifetime lack of low back pain. SNPs in the cytokine genes of IL-1 [IL-1α (-889 C/T), IL-1β (+3953 T/C)], TNF-α (-308 G/A and -238 G/A) and NOS genes [eNOS (r 27 bp, intron 4 and -786 T/C) and iNOS (22 G/A)]. The CC genotype and C allele of the IL-1β (+3953 T/C) SNP were significantly more frequent among LDH patients compared to controls. On the other hand, eNOS (-768 T/C) and iNOS (22 G/A) SNPs were significantly more common in the control group. Carriers of the CC genotype of the IL-1β (+3953 T/C) SNP were more frequent among LDH patients suggesting some potential role of the IL-1β SNP on LDH pathogenesis. The eNOS (-786 T/C) and iNOS (22 G/A) SNPs were more frequent among the control subjects, suggesting their possible protective role against LDH. Genotyping these SNPs could be useful to identify persons with an increased lifetime risk of disc herniation in whom measures to avoid LDH could be implemented.