Interleukin-1β could stimulate the proliferation and differentiation of osteoclast precursors into mature osteoclasts. IL-1B polymorphisms may influence the gene and protein expressions of IL-1β. The present study aimed to investigate the association of IL-1B variants (rs2853550, rs1143643, rs3136558, rs1143630, rs1143627, rs16944 and rs1143623) and its interaction with osteoporosis risk among the northwestern Chinese Han population.
Agena MassARRAY system was applied for genotyping in 594 osteoporosis patients and 599 healthy controls. The possible association between IL-1B polymorphisms and risks of osteoporosis development was identified by odds ratios (OR) and 95% confidence intervals (CI) using logistic regression models. Haplotype analysis and multifactor dimension reduction (MDR) analysis were used to explore the potential association between combined SNPs and osteoporosis risk.
The AA genotype of rs2853550 was a protective factor for osteoporosis occurrence (OR = 0.11, p = 0.038). While rs16944 (OR = 1.19, p = 0.037) and rs1143623 (OR = 1.21, p = 0.025) conferred the increased risk of osteoporosis. Moreover, rs1143627, rs16944 and rs1143623 were associated with the elevated susceptibility to osteoporosis, especially in females, individuals with age > 60 years or BMI > 24 kg/m . Haplotype G A G was a risk factor of osteoporosis occurrence (OR = 1.20, p = 0.032). The best model of SNP-SNP analysis was four-locus combination of rs1143643, rs3136558, rs1143630, and rs1143623 (testing accuracy = 0.5623).
IL-1B polymorphisms and haplotype G A G might contribute to the susceptibility of osteoporosis. SNP-SNP interaction of polymorphisms in IL-1B revealed the accumulated effect on osteoporosis risk.

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