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基于生物信息学的女性骨峰值与骨质疏松相关基因分析

[Analysis of genes related to female bone peak and osteoporosis based on bioinformatics].

作者信息

Fan Ping, Feng Xiu-Yuan, Hu Nan, Pu Dan, He Lan

机构信息

The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, Shanxi, China.

出版信息

Zhongguo Gu Shang. 2023 Sep 25;36(9):866-72. doi: 10.12200/j.issn.1003-0034.2023.09.014.

Abstract

OBJECTIVE

To explore and verify the genes related to female peak bone mass(PBM) and osteoporosis (OP) based on bioinformatics.

METHODS

Using GEO data, DNA microarray technology to conduct genome-wide analysis of adult female monocytes with high and low PBM. Cluster analysis, GO enrichment and KEGG analysis were used to analyze the differential genes, and the interaction network of differential genes was further analyzed. OP rat model was established and femur neck tissue staining was performed to further verify the expression of differential genes.

RESULTS

A total of 283 genes were obtained by differential gene screening. Compared with the high PBM samples, 135 genes were up-regulated and 148 genes were down-regulated in the low PBM samples. A total of 7 pathways and 12 differential genes were enriched, and there were differences in the expression of several genes involved in mineral absorption and transport, cellular immunity and other aspects. Among them, voltage-gated Ca channel 1.3(CaV1.3) encoded by CACNA1D gene was significantly enhanced in the femoral neck tissue of OP rat model.

CONCLUSION

The above results suggest that the difference in the expression level of CaV1.3 gene may lead to the occurrence of OP in women with low PBM, which provides us with a potential target for the prevention and treatment of OP.

摘要

目的

基于生物信息学探索并验证与女性峰值骨量(PBM)及骨质疏松症(OP)相关的基因。

方法

利用GEO数据,采用DNA微阵列技术对成年女性高、低PBM单核细胞进行全基因组分析。运用聚类分析、GO富集分析和KEGG分析对差异基因进行分析,并进一步分析差异基因的相互作用网络。建立OP大鼠模型并进行股骨颈组织染色,以进一步验证差异基因的表达。

结果

通过差异基因筛选共获得283个基因。与高PBM样本相比,低PBM样本中有135个基因上调,148个基因下调。共富集到7条通路和12个差异基因,在矿物吸收与转运、细胞免疫等多个方面的几个基因表达存在差异。其中,由CACNA1D基因编码的电压门控钙通道1.3(CaV1.3)在OP大鼠模型的股骨颈组织中显著增强。

结论

上述结果表明,CaV1.3基因表达水平的差异可能导致低PBM女性发生OP,这为我们提供了一个预防和治疗OP的潜在靶点。

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