基于癌症基因组图谱数据库探索结肠癌拷贝数变异基因及其功能通路
DOI:
作者:
作者单位:

作者简介:

通讯作者:

基金项目:

国家自然科学基金(81802434);军队科研基金(2017JZ19)


Exploring copy number variant genes and their functional pathways in colon cancer based on the Cancer Genome Atlas
Author:
Affiliation:

Fund Project:

  • 摘要
  • |
  • 图/表
  • |
  • 访问统计
  • |
  • 参考文献
  • |
  • 相似文献
  • |
  • 引证文献
  • |
  • 资源附件
    摘要:

    【摘要】 目的 利用癌症基因组图谱(TCGA)数据库筛选结肠癌拷贝数变异基因并分析其潜在功能。 方法 从TCGA数据库下载结肠癌拷贝数变异数据和表达谱数据在R350环境下利用卡方检验或fisher确切概率法筛选正常组织和癌组织之间显著差异的拷贝数变异基因,结合表达谱数据筛选显著差异拷贝数合并显著表达差异的基因。对显著差异拷贝数合并显著表达差异的基因进行GO功能和KEGG通路富集分析,探索其潜在的功能和通路。筛选结果经我院样本测序结果验证。结果 共发现8872个显著差异拷贝数合并显著表达差异的基因,包括GID8、YTHDF1、TAF4、NELFCD等;主要富集的功能和通路分别为RNA的催化活性、DNA的催化活性、泛素相关酶活性、Notch信号通路、AMPK信号通路、p53信号通路等。结论 挖掘结肠癌拷贝数变异突变基因并分析其潜在功能,有助于帮助深入理解结肠癌遗传机制和发病机制,这有可能作为结肠癌诊断和治疗靶标应用于临床。

    Abstract:

    【Abstract】 Objective To screen the colon cancer copy number variant genes and analyze its potential function by using the Cancer Genome Atlas (TCGA) database. Methods The copy number variation data and expression profile data of colon cancer were downloaded from the TCGA database. In the R 3.5.0 environment, the copy number variation gene between the normal tissue and the cancer tissue was screened by Chisquare test or fisher exact probability method. The genes with significant difference in copy number combined with significant differences in gene expression were screened by combining the expression profile data. The genes with significant difference in copy number combined with significant differences in gene expression were analyzed by GO function and KEGG pathway enrichment, and its potential functions and pathways were analyzed. The screening results were verified by our hospital sample sequencing results to be accurate and comprehensive. Results A total of 8424 genes with significant difference in copy number combined with significant differences in gene expression were found including GID8, YTHDF1, TAF4, NELFCD, etc. The main enriched functions and pathways were RNA catalytic activity, DNA catalytic activity, ubiquitinrelated enzyme activity, Notch signaling pathway, AMPK signaling pathway, p53 signaling pathway, etc. Conclusion To explore the potential genes of colon cancer copy number variations and analyze their potential functions can help us to understand the genetic mechanism and pathogenesis of colon cancer, and it may be used as a diagnostic and therapeutic target for colon cancer.

    参考文献
    相似文献
    引证文献
引用本文
分享
文章指标
  • 点击次数:
  • 下载次数:
历史
  • 收稿日期:
  • 最后修改日期:
  • 录用日期:
  • 在线发布日期: 2019-07-26
您是第位访问者
网站版权所有:《西部医学》编辑部     蜀ICP备18038379号-4
地址:四川省成都市武侯区小天竺街75号财富国际18F-1号    邮政编码:610041
电话:028-85570072/85588403 本网站支持 IPv6    E-mail:xbyxqk@163.com
技术支持:北京勤云科技发展有限公司