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白细胞介素-6 和转化生长因子-β基因多态性及其表达与骨质疏松性胸腰椎椎体压缩性骨折的相关性。

Correlations of IL-6 and TGF-β Gene Polymorphisms and Expressions With Osteoporotic, Thoracolumbar, Vertebral Compression Fracture.

出版信息

Altern Ther Health Med. 2023 Apr;29(3):120-126.

Abstract

CONTEXT

Associations between genes and diseases manifest as the influence of gene expression on disease development as well as the impact of variations in the disease-related genes themselves. It's important to determine the genetic variations that can lead to compressed fractures of osteoporotic, thoracic lumbar vertebrae to develop personalized clinical methods to prevent or delay the disease's development.

OBJECTIVE

The study intended to explore the correlations between the gene polymorphisms and gene expressions of the interleukin-6 (IL-6) gene and the transforming growth factor-beta (TGF-β) gene and osteoporotic, thoracolumbar, vertebral compression fracture.

DESIGN

The research team performed an observational study using data from medical records.

SETTING

The study took place at Xuzhou Medical University in Xuzhou, China.

PARTICIPANTS

Participants were 200 patients with an osteoporotic, thoracolumbar, vertebral compression fracture who had been admitted to the hospital at the university between 2019 and 2021 prior to the study and 200 healthy people The research team divided the participants into two groups. The patients became participants in the disease group, and the healthy individuals became participants in the control group.

OUTCOME MEASURES

The research team: (1) collected peripheral blood from the two groups, (2) extracted genomic deoxyribonucleic acids (DNAs) from karyocytes, (3) examined the IL-6 and TGF-β gene polymorphisms, and (4) analyzed and correlated participants' clinical data with the gene polymorphisms and expressions. The team used a quantitative polymerase chain reaction (qPCR) to examine the expression levels of IL-6 and TGF-β.

RESULTS

Compared to the control group, the disease group: (1) had allele distributions that were significantly different at the rs2069829 locus of the IL-6 gene (P < .001) and at the rs3087453 of the TGF-β gene (P = .004); (2) had significantly higher frequencies of allele T at the rs2069829 locus of the IL-6 gene and of allele G at the rs3087453 locus of the TGF-β gene; (3) had genotype distributions that were significantly different at the rs2069829 locus (P < .001) and the rs2069857 locus (P = .048) of the IL-6 gene and at the rs3087453 locus (P < .001) of the TGF-β gene; (4) had frequencies that were significantly higher of the TT genotype at the rs2069829 locus, the CC genotype at the rs2069857 locus, and the GC genotype at the rs3087453 locus of the IL-6 gene and the TGF-β gene; (5) had dominant models that were significantly different at the rs2069829 locus of the IL-6 gene (P = .009) and at rs3087453 locus of the TGF-β gene (P = .026) and had a recessive model that was significantly different at the rs2069857 locus of the IL-6 gene (P = .040); (6) had significantly different haplotypes CC (P < .001) and TC (P < .001) at the rs2069829 locus and the rs2069857 locus of the IL-6 gene and a significantly different haplotype AC (P = .011) at the rs1800469 locus and the rs3087453 locus of the TGF-β gene; (7) had an IL-6 gene polymorphism at the rs2069857 locus that was related to the expression of the IL-6 gene (P < .05) and an expression of the IL-6 gene for participants with the AA genotype that was significantly lower than for other genotypes; (8) had a TGF-β gene polymorphism at the rs1800469 locus that was associated with the expression of the TGF-β gene (P < .05), and an expression for participants with the GG genotype that was significantly higher than for other genotypes; (9) had an IL-6 gene polymorphism at the rs2069857 locus with an overt correlation with the genotype of osteoporotic, thoracolumbar, vertebral compression fracture (P < .001). Also, participants in the disease group with the genotype CC mainly had type 2 and 3 fractures, while those with genotype AA primarily had type 0 and 1 fractures.

CONCLUSIONS

IL-6 and TGF-β gene polymorphisms and expressions are significantly related to osteoporotic, thoracolumbar, vertebral compression fracture.

摘要

背景

基因与疾病之间的关联表现为基因表达对疾病发展的影响,以及与疾病相关基因自身变异的影响。确定可能导致骨质疏松性胸腰椎压缩性骨折的遗传变异对于制定个性化的临床方法以预防或延迟疾病的发展非常重要。

目的

本研究旨在探讨白细胞介素-6(IL-6)基因和转化生长因子-β(TGF-β)基因的多态性与基因表达与骨质疏松性胸腰椎压缩性骨折的关系。

设计

本研究团队采用观察性研究设计,使用病历数据。

地点

中国徐州医科大学。

参与者

2019 年至 2021 年期间在该大学住院的 200 名骨质疏松性胸腰椎压缩性骨折患者和 200 名健康人。研究团队将参与者分为两组,患者成为疾病组,健康人成为对照组。

观察指标

研究团队(1)从两组中采集外周血,(2)从核细胞中提取基因组脱氧核糖核酸(DNA),(3)检测 IL-6 和 TGF-β 基因多态性,(4)分析并将参与者的临床数据与基因多态性和表达相关联。团队使用定量聚合酶链反应(qPCR)检测 IL-6 和 TGF-β 的表达水平。

结果

与对照组相比,疾病组:(1)在 IL-6 基因的 rs2069829 位点和 TGF-β 基因的 rs3087453 位点的等位基因分布存在显著差异(P<0.001);(2)IL-6 基因的 rs2069829 位点和 TGF-β 基因的 rs3087453 位点的等位基因 T 和 G 的出现频率显著更高;(3)在 IL-6 基因的 rs2069829 位点(P<0.001)和 rs2069857 位点(P=0.048)以及 TGF-β 基因的 rs3087453 位点(P<0.001)存在显著不同的基因型分布;(4)IL-6 基因的 rs2069829 位点的 TT 基因型、rs2069857 位点的 CC 基因型和 TGF-β 基因的 rs3087453 位点的 GC 基因型的出现频率显著更高;(5)在 IL-6 基因的 rs2069829 位点(P=0.009)和 rs3087453 位点(P=0.026)存在显著不同的显性模型,在 IL-6 基因的 rs2069857 位点(P=0.040)存在显著不同的隐性模型;(6)在 IL-6 基因的 rs2069829 位点和 rs2069857 位点存在显著不同的 haplotype CC(P<0.001)和 TC(P<0.001)以及 TGF-β 基因的 rs1800469 位点和 rs3087453 位点存在显著不同的 haplotype AC(P=0.011);(7)IL-6 基因的 rs2069857 位点的基因多态性与 IL-6 基因的表达有关(P<0.05),且 AA 基因型的参与者的 IL-6 基因表达显著低于其他基因型;(8)TGF-β 基因的 rs1800469 位点的基因多态性与 TGF-β 基因的表达有关(P<0.05),且 GG 基因型的参与者的 TGF-β 基因表达显著高于其他基因型;(9)IL-6 基因的 rs2069857 位点的基因多态性与骨质疏松性胸腰椎压缩性骨折的基因型明显相关(P<0.001)。此外,疾病组中 rs2069857 位点 CC 基因型的参与者主要患有 2 型和 3 型骨折,而 AA 基因型的参与者主要患有 0 型和 1 型骨折。

结论

IL-6 和 TGF-β 基因的多态性和表达与骨质疏松性胸腰椎压缩性骨折明显相关。

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