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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
Author(s) -
He Zhiyi,
Sun Yao,
Wu Jiamin,
Xiong Zichao,
Zhang Shanshan,
Liu Jianfeng,
Liu Yuanwei,
Li Haiyue,
Jin Tianbo,
Yang Yonghui,
Yang Shuya
Publication year - 2020
Publication title -
the journal of gene medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 91
eISSN - 1521-2254
pISSN - 1099-498X
DOI - 10.1002/jgm.3214
Subject(s) - haplotype , single nucleotide polymorphism , odds ratio , osteoporosis , snp , allele , genotyping , medicine , biology , genetics , population , multifactor dimensionality reduction , genotype , oncology , gene , environmental health
Background Interleukin (IL)‐1β stimulates the proliferation and differentiation of osteoclast precursors into mature osteoclasts. IL‐1B polymorphisms may influence the gene and protein expression of IL‐1β. The present study aimed to investigate the association of IL‐1B variants (rs2853550, rs1143643, rs3136558, rs1143630, rs1143627, rs16944 and rs1143623) and their interaction with osteoporosis risk among the northwestern Chinese Han population. Methods AN Agena MassARRAY system (Agena, San Diego, CA, USA) was employed for genotyping in 594 osteoporosis patients and 599 healthy controls. The possible association between IL‐1B polymorphisms and risks of osteoporosis development was identified with odds ratios (OR) and 95% confidence intervals (CI) using logistic regression models. Haplotype analysis and multifactor dimension reduction analysis were used to explore the potential association between combined single nucleotide polymorphisms (SNPs) and osteoporosis risk. Results The AA genotype of rs2853550 was a protective factor for osteoporosis occurrence (OR = 0.11, p = 0.038), whereas rs16944 (OR = 1.19, p = 0.037) and rs1143623 (OR = 1.21, p = 0.025) conferred an increased risk of osteoporosis. Moreover, rs1143627, rs16944 and rs1143623 were associated with an elevated susceptibility to osteoporosis, especially in females and individuals aged > 60 years or with a body mass index > 24 kg/m 2 . Haplotype G rs1143630 A rs1143627 G rs16944 was a risk factor of osteoporosis occurrence (OR = 1.20, p = 0.032). The best model of SNP–SNP analysis was a four‐locus combination of rs1143643, rs3136558, rs1143630 and rs1143623 (testing accuracy = 0.5623). Conclusions IL‐1B polymorphisms and haplotype G rs1143630 A rs1143627 G rs16944 might contribute to susceptibility to osteoporosis. The SNP–SNP interaction of polymorphisms in IL‐1B revealed the accumulated effect on osteoporosis risk.