基于生物信息学分析骨峰值及骨质疏松症相关基因  

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

作　　者：樊萍[1] 冯秀媛[1] 胡楠[1] 蒲丹[1] 何岚[1] FAN Ping;FENG Xiu-yuan;HU Nan;PU Dan;HE Lan(The First Affiliated Hospital ofXi'anJiaotong University,Xi'an 710061,Shanxi,China)

机构地区：[1]西安交通大学第一附属医院,陕西西安710061

出　　处：《中国骨伤》2023年第9期866-872,共7页China Journal of Orthopaedics and Traumatology

基　　金：陕西省科技计划项目(编号:2019JM-560)。

摘　　要：目的:基于生物信息学探讨与女性骨峰值(peak bone mass,PBM)及骨质疏松症(osteoporosis,OP)相关的基因并进行验证。方法:通过基因表达数据库(gene expression omnibus database,GEO),利用DNA微阵列技术对高PBM和低PBM成年女性的单核细胞进行全基因组范围内的基因差异表达研究,通过聚类分析、GO富集和京都基因与基因组百科全书(kyoto encyclopedia of genes and genomes,KEGG)分析差异基因,并进一步分析差异表达基因间的相互作用网络。建立OP大鼠模型,进行股骨颈组织染色,进一步验证差异基因的表达。结果:差异基因筛选共得到283个基因,与高PBM样本相比,低PBM样本中有135个基因表达上调,148个基因表达下调,总共有7个通路与12个差异基因被富集,涉及矿物质吸收与转运、细胞免疫等方面的多个基因表达存在差异。其中,CACNA1D基因编码的L型钙离子通道蛋白1.3(voltage-gated Ca^(2+)channel 1.3,CaV1.3)在OP大鼠模型股骨颈组织中表达显著增强。结论:以上结果提示CaV1.3基因表达水平的差异可能导致低PBM女性发生OP,提供了OP防治的潜在靶点。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^(2+) 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.

关 键 词：骨质疏松 骨峰值 钙通道 生物信息学 

分 类 号：R681[医药卫生—骨科学]