Background: Osteoporosis (OP) is a common inflammatory disease. The goal of this study was to investigate the effect of IL-1R1 and IL-1RN polymorphisms on OP predisposition among the Chinese Han population.
Methods: Six single nucleotide polymorphisms (SNPs) in IL-1R1 and IL-1RN were genotyped using the Agena MassARRAY platform in 594 OP patients and 599 age- and sex- matched healthy controls. Logistic regression analysis was used to calculate odds ratios (OR) and 95% confidence intervals (CI). Multifactor dimensionality reduction (MDR) analysis was used to analyze SNP-SNP interaction. The correlations of genotypes with clinical variables were evaluated using analysis of covariance (ANOVA).
Results: Overall, IL-1R1 rs3917225 (OR = 1.40, 95% CI: 1.10-1.80, p = 0.007) was associated with a higher risk for OP, while IL-1RN rs17042888 (OR = 0.55, 95% CI: 0.34-0.90, p = 0.016) was associated with a lower risk. Specifically, the risk association between these polymorphisms and OP risk might be related to age, sex and BMI. Furthermore, rs10490571, rs17042888, rs3181052 and rs452204 were associated with the T scores of the lumbar spine or total hip.
Conclusion: This study is the first to find that rs10490571, rs956730 and rs3917225 in IL-1R1 and rs17042888 in IL-1RN may be genetic contributors to OP susceptibility among the Chinese Han population. Our findings increase the understanding of the role of IL-1R1 and IL-1RN in the genetic etiology of osteoporosis. Nevertheless, these results should be confirmed in larger cohorts.
Keywords: Genetic predisposition; IL-1R1 and IL-1RN polymorphisms; Osteoporosis; SNP-SNP interaction.
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