Genetic polymorphisms in IL1B predict susceptibility to steroid-induced osteonecrosis of the femoral head in Chinese Han population

Yu, Yan; Zhang, Y; Wu, Jia‐Min; Sun, Yao; Xiong, Zichao; Niu, Fanglin; Lei, L; Du, Shuli; Chen, P; Yang, Zichang

doi:10.1007/s00198-019-04835-9

Cited by 17 publications

(15 citation statements)

References 30 publications

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“…Rs2853550 is likely to affect TF binding, any motif and DNase peak, 20 which in turn affect the occurrence of osteoporosis. Previously, rs16944 (−511G/A) polymorphism were shown to possibly depend on IL-1B promoter region haplotypes (rs16944 and rs1143627) with respect to affecting the expression levels of IL-1β.…”

Section: Discussionmentioning

confidence: 99%

“…Our results reveled that rs2853550, a downstream variant within IL‐1B , might be a protective factor for osteoporosis occurrence in the overall participants. Rs2853550 is likely to affect TF binding, any motif and DNase peak, 20 which in turn affect the occurrence of osteoporosis. Previously, rs16944 (−511G/A) polymorphism were shown to possibly depend on IL‐1B promoter region haplotypes (rs16944 and rs1143627) with respect to affecting the expression levels of IL‐1β 19 .…”

Section: Discussionmentioning

confidence: 99%

“…The IL-1B gene, located on chromosome 2q14.1, encodes a proinflammatory cytokine IL-1β. Some polymorphisms have been identified in the IL-1B gene that impact the expression and activity of IL-1B, 19,20 leading to the occurrence of osteoporosis. These led us to explore the effect of IL-1B polymorphisms with respect to the risk of osteoporosis occurrence.…”

Section: Introductionmentioning

confidence: 99%

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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

Sun

et al. 2020

The Journal of Gene Medicine

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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

Sun

et al. 2020

The Journal of Gene Medicine

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“…This disease is the major cause of total hip arthroplasty in young adults (1). it is reported that more than 1 million new patients are affected with this disease annually and the annual incidence is 15 to 20 million according to a nationwide survey (2). accumulating evidence has alluded to several etiologic and pathogenic mechanisms for onFH (3).…”

Section: Introductionmentioning

confidence: 99%

Icariin promotes osteogenic differentiation of BMSCs by upregulating BMAL1 expression via BMP signaling

Huang

Wei

et al. 2020

Mol Med Report

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increasing research has demonstrated that expression of brain and muscle arnT-like 1 (BMal1) and other circadian clock genes can be regulated by drugs and toxicants. We previously demonstrated that icariin, extracted from Herba epimedii, sromotes osteogenic differentiation. However, the mechanism underlying the association between icariin and BMal1 in osteogenic differentiation of bone marrow-derived mesenchymal stem cells (BMScs) remains unclear. The present study was designed with an aim to clarify the association between icariin and BMal1 in osteogenic differentiation of BMScs. The cell counting Kit-8 assay was used to evaluate cell proliferation. The expression of bone morphogenetic protein 2 (BMP2), runX family transcription factor 2 (runX2), alkaline phosphatase (alP), osteocalcin (oc) and BMal1 in BMScs was evaluated by reverse transcription-quantitative Pcr and western blotting. alP and alizarin red S (arS) staining were also performed. icariin promoted BMSc proliferation, and upregulated expression of osteogenic genes and BMal1. in addition, expression of the osteogenic genes BMP2, runX2, alP and oc were upregulated by BMal1 overexpression. Furthermore, we confirmed that BMal1 deficiency suppressed osteogenic differentiation in BMScs. Finally, arS staining of BMal1 -/-BMScs revealed that BMal1 was an essential intermediary in matrix mineralization during osteogenic differentiation. in conclusion, these results demonstrated that icariin promoted osteogenic differentiation through BMal1-BMP2 signaling in BMScs. The present study thus described a novel target of icariin that has potential applications in the treatment of osteogenic disorders.

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“…We used HaploReg v 4.1 and RegulomeDB to functionally annotate these four genes. HaploReg has emerged as an important tool for the annotation of variants in haplotype blocks in the non-coding genome and for the prediction of cell types that are likely affected ( Ward and Kellis, 2012 ; Yu et al, 2019 ). RegulomeDB can be used to annotate regulatory variants in the human genome by giving scores to predict their functions ( Boyle et al, 2012 ).…”

Section: Methodsmentioning

confidence: 99%

Association of Extracellular Signal-Regulated Kinase Genes With Myopia: A Longitudinal Study of Chinese Children

et al. 2021

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Genetic polymorphisms in IL1B predict susceptibility to steroid-induced osteonecrosis of the femoral head in Chinese Han population

Cited by 17 publications

References 30 publications

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

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

Icariin promotes osteogenic differentiation of BMSCs by upregulating BMAL1 expression via BMP signaling

Association of Extracellular Signal-Regulated Kinase Genes With Myopia: A Longitudinal Study of Chinese Children

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