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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]

 

Abstract

BACKGROUND:

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.

METHODS:

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.

RESULTS:

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).

CONCLUSION:

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.