南方医科大学学报 ›› 2024, Vol. 44 ›› Issue (5): 941-949.doi: 10.12122/j.issn.1673-4254.2024.05.16

• 临床研究 • 上一篇    下一篇

基于转录组学测序及生物信息学方法鉴定肠上皮化生的潜在致病基因

裴蓓1(), 张艺1, 魏思源1, 梅语1, 宋标1, 董港1, 温子昂2, 李学军1()   

  1. 1.安徽中医药大学第二附属医院,安徽 合肥 230000
    2.南京医科大学第一临床医学院,江苏 南京 210000
  • 收稿日期:2023-09-25 出版日期:2024-05-20 发布日期:2024-06-06
  • 通讯作者: 李学军 E-mail:18356051572@163.com;lixujun0308@126.com
  • 作者简介:裴 蓓,在读博士研究生,E-mail: 18356051572@163.com
  • 基金资助:
    安徽省重大疑难疾病中西医协同攻关项目(0708-2021)

Identification of potential pathogenic genes of intestinal metaplasia based on transcriptomic sequencing and bioinformatics analysis

Bei PEI1(), Yi ZHANG1, Siyuan WEI1, Yu MEI1, Biao SONG1, Gang DONG1, Ziang WEN2, Xuejun LI1()   

  1. 1.Second Affiliated Hospital of Anhui University of Chinese Medicine, Anhui 230000, China
    2.First Clinical Medical College of Nanjing Medical University, Nanjing 210000, China
  • Received:2023-09-25 Online:2024-05-20 Published:2024-06-06
  • Contact: Xuejun LI E-mail:18356051572@163.com;lixujun0308@126.com

摘要:

目的 探讨肠上皮化生(IM)的潜在关键致病基因。 方法 收集2022年1月~6月在安徽中医药大学第二附属医院脾胃科就诊的21例IM患者,以及同期在我院体检中心接受胃镜检查的21例健康受试者。对所有参与者均行胃镜及病理检查,收集胃组织样本进行转录组学测序以筛选疾病相关差异基因,并通过生物信息学分析明确其生物学功能。同时采用实时荧光定量PCR对结果进行验证。 结果 通过转录组学测序,最终获得了1373个差异基因,其中827个上调的mRNA和546个下调的mRNA。根据差异基因的显著性与平均表达量对其进行了排序,从中选取了6个前20的上调基因进行验证,RT-PCR结果显示,与正常组相比,AGMAT、CCL25、FABP1、CDX1、SPINK4和MUC2表达水平显著上调(P<0.05)。 结论 AGMAT、CCL25、FABP1、SPINK4、CDX1和MUC2可能是诊断肠上皮化生的潜在生物学标志物,参与了IM的发生、发展,对疾病的预测及诊断有一定的价值。

关键词: 肠上皮化生, 致病基因, 转录组学, 生物信息学

Abstract:

Objective To explore the potential pathogenic genes of intestinal metaplasia. Methods Twenty-one patients with intestinal metaplasia admitted to the Department of Gastroenterology at the Second Affiliated Hospital of Anhui University of Chinese Medicine from January, 2022 to June, 2022, and 21 healthy subjects undergoing gastroscopic examination during the same period were enrolled in this study. All the participants underwent gastroscopy and pathological examination, and gastric tissue samples were collected for transcriptome sequencing to screen for differentially expressed genes (DEGs). The biological functions of the DEGs were analyzed using bioinformatics analysis, and qRT-PCR was used to validate the results. Results Transcriptomic sequencing identified a total of 1373 DEGs, including 827 upregulated and 546 downregulated ones. The top 6 upregulated genes (AGMAT, CCL25, FABP1, CDX1, SPINK4, and MUC2), ranked based on their significance and average expression level, were selected for validation, and qRT-PCR showed significant upregulation of their mRNAs in the gastric tissues of patients with intestinal metaplasia (P<0.05). Conclusion AGMAT, CCL25, FABP1, CDX1, SPINK4, and MUC2 participate in the occurrence and development of intestinal metaplasia, and may serve as potential biomarkers for diagnosing intestinal metaplasia.

Key words: intestinal metaplasia, pathogenic genes, transcriptomics sequencing, bioinformatics