| 李青山,陈 莉,索艳晖,李渊深,谢延平,张桂生.遗传性骨病致病基因及相关miRNA的相互作用分析[J].,2019,19(19):3789-3793 |
| 遗传性骨病致病基因及相关miRNA的相互作用分析 |
| Interaction Analysis of Disease Genes and Related miRNA in Genetic Bone Disease |
| 投稿时间：2018-12-06 修订日期：2018-12-30 |
| DOI：10.13241/j.cnki.pmb.2019.19.044 |
| 中文关键词: 遗传性骨病 致病基因 miRNA 成骨不全 骨密度 |
| 英文关键词: Genetic bone disease Disease genes miRNA Osteogenesis imperfecta Bone density |
| 基金项目:河北省医学科学研究计划项目（20140578） |
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| 中文摘要: |
| 摘要 目的：筛选遗传性骨病相关的致病基因和其相关的miRNA，并研究两者相互作用关系以及在遗传性骨病中的作用。方法：本研究应用生物信息学的方法，首先应用mirwalk和《国际遗传性骨病分类标准》分析遗传性骨病的致病基因，根据筛选出来的致病基因利用mirwalk的10个预测mirna搜索引擎功能，搜索致病基因的相关miRNA，并应用excel工作表统计分析mirna的靶向致病基因；再应用Cytoscape软件分析致病基因和相关mirna之间的相互作用关系。结果：本研究中与遗传性骨病密切相关的基因可以分为四类：第一类为成骨不全类基因COL1A1、COL1A2等；第二类为骨密度降低类基因如ACVR1、ALX1等；第三类为骨密度增加类基因如CASR、DMTF1等；第四类为通过作用骨干参与骨密度增加的基因如TGFBR1、MYCN等。其中与成骨不全关系最为密切的mirna是hsa-miR-26b、hsa-miR-19、hsa-miR-200c；与骨密度降低关系最为密切的mirna是hsa-miR-138、hsa-miR-505；与骨密度增加关系最为密切的mirna是hsa-miR-196a、hsa-miR-200b、hsa-miR-19b。结论：mirna可通过调控遗传性骨病致病基因在其病理过程中起到重要作用，提示上述mirna可能是成为遗传性骨病产前筛查和临床药物治疗的新靶点。 |
| 英文摘要: |
| ABSTRACT Objective: To screen the disease genes and its related miRNA, and to study the interaction between the two and the role of genetic bone disease. Methods: This study applied the method of bioinformatics, firstly analyzed pathogenic gene of genetic bone disease by mirwalk and "international standard classification of genetic bone disease". According to the screening out of the pathogenic genes, Used mirwalk's 10 prediction miRNA search engine function, searched for the disease genes related to miRNA, and the excel work table was used to analyze the target genes of miRNA, cytoscape software was used to analyze the interaction between pathogenic genes and miRNA. Results: This study was closely associated with genetic bone disease genes can be divided into four categories: The first category was osteogenesis imperfecta type gene such as COL1A1, COL1A2, etc; The second category was the decreased bone density genes such as ACVR1, ALX1, etc; The third category was the increased bone density genes such as CASR, DMTF1, etc; The fourth category was functional backbone participates in bone density increase genes such as TGFBR1, MYCN, etc. With osteogenesis imperfecta which most closely mirna was hsa-miR-26b, hsa-miR-19, hsa-miR-200c, the hsa-miR-138 and hsa-miR-505 were the most closely related to the decreased bone density, the mirna with most closely related to the increased bone density was hsa-miR-196a, hsa-miR-200b,hsa-miR-19b. Conclusion: Mirna play an important role in the pathogenesis of genetic bone disease by regulating pathogenic genes,which show that the above mirna may become a new therapeutic target of prenatal screening and clinical drugs. |
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