BACKGROUND: The aim of this study was to assess the association of single-nucleotide polymorphisms (SNPs) in IL1R1 with the risk of lumbar disc herniation (LDH) in the Han population in northwest China.

MATERIAL AND METHODS: To estimate the association of IL1R1 polymorphisms with LDH risk, Agena MassARRAY was used to determine the genotypes of 498 LDH patients and 463 controls. The association between IL1R1 variants and LDH risk was examined by logistic regression analysis with adjustments for age and gender. Stratification analysis was observed between gender and age with polymorphisms of IL1R1. Haplotype construction and analysis in IL1R1 were also applied to detect the potential association.

RESULTS: The mutant homozygous genotype in codominant model (AA versus GG, OR=2.37, 95% CI: 1.08–5.21, P=0.001) and in recessive model (AA versus GG/GA, OR=2.82, 95% CI: 1.30–6.12, P=0.005) of rs956730 were associated with an increased LDH risk in males, while rs956730 heterozygous genotype under codominant model (AG versus GG, OR=0.65, 95% CI: 0.46–0.92, P=0.001) was a protective genotype in males. In addition, the recessive model (CT/CC versus TT, OR=3.43, 95% CI: 1.11–10.57, P=0.020) of rs10490571 was associated with an increased LDH risk among people older than 50 years of age.

CONCLUSIONS: This study demonstrated that genetic variants in the IL1R1 genes were associated with LDH risk in the Han population of northwestern China.

Keywords: Lumbar Vertebrae, Polymorphism, Genetic, Receptors, Interleukin-1, Asians, Case-Control Studies, ethnicity, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Haplotypes, Intervertebral Disc Displacement, Polymorphism, Single Nucleotide, Receptors, Interleukin-1 Type I, Risk Factors