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Evaluation of genetic variants in IL-1B and its interaction with the predisposition of osteoporosis in the northwestern Chinese Han population

He Z1Sun Y2Wu J2Xiong Z2Zhang S2Liu J2Liu Y2Li H2Jin T2Yang Y3Yang S4.

J Gene Med. 2020 May 11:e3214. doi: 10.1002/jgm.3214. [Epub ahead of print]




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/m2 . Haplotype Grs1143630 Ars1143627 Grs16944 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 Grs1143630 Ars1143627 Grs16944 might contribute to the susceptibility of osteoporosis. SNP-SNP interaction of polymorphisms in IL-1B revealed the accumulated effect on osteoporosis risk.