遗传 ›› 2019, Vol. 41 ›› Issue (5): 413-421.doi: 10.16288/j.yczz.19-078

• 研究报告 • 上一篇    下一篇

早产相关基因的挖掘与特征分析

刘玄石,李巍()   

  1. 儿科重大疾病研究教育部重点实验室,北京 100045
  • 收稿日期:2019-03-21 修回日期:2019-05-08 出版日期:2019-05-20 发布日期:2019-05-11
  • 通讯作者: 李巍 E-mail:liwei@bch.com.cn
  • 作者简介:刘玄石,博士研究生,助理研究员,专业方向：生物信息学。E-mail: liuxs2017bioinf@163.com

Mining and characterization of preterm birth related genes

Xuanshi Liu,Wei Li()   

  1. Genetics and Birth Defects Control Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China
  • Received:2019-03-21 Revised:2019-05-08 Online:2019-05-20 Published:2019-05-11
  • Contact: Li Wei E-mail:liwei@bch.com.cn

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摘要：

早产(preterm birth, PTB)指胎儿在完成37周妊娠前出生,是新生儿死亡的主要原因,与多种新生儿疾病和成年发生的慢性病相关。据双生子和家系研究报道,遗传因素约占早产风险的15%~35%,然而早产的分子流行病学机制目前尚不明确。本研究通过挖掘文献数据库和疾病数据库中与早产相关的文献,并结合两重过滤的方法,筛选出355个与早产相关基因。富集分析发现早产相关基因主要分子功能包括：受体配体活性、细胞因子受体结合、细胞因子活性和生长因子活性等;主要通路包括KEGG中富集的糖尿病并发症中的AGE-RAGE信号通路、Chagas病和IL-17信号通路和TNF信号通路等,以及Reactome中富集的多个与免疫相关的通路。早产相关基因与基因组其他基因相比较,转录本数量有差异(α = 0.1, P = 0.06),但在GC含量和基因长度上没有明显差异。本研究结果提示早产基因大多集中在免疫相关通路,具备与免疫过程密切相关的分子功能,为早产的遗传机制研究提供了重要资源。

关键词: 早产, 数据挖掘, 富集分析, 基因特征, 转录本数量

Abstract:

Preterm birth (PTB) refers to birth before 37 completed gestational weeks. PTB is the leading cause of neonatal deaths and is associated with various neonatal complications and adult-onset chronic diseases. According to twin and family studies, genetic variants account for about 15% to 35% of the incidence of PTB. However, the molecular epidemiology of PTB is still unclear. By mining the PTB-related researches in the literature database and the disease databases, and combining two filtering methods, 355 PTB-related genes were selected. The enrichment analyses of molecular function revealed that the main functions of PTB-related genes include: receptor ligand activity, cytokine receptor binding, cytokine activity, growth factor activity, etc.; the main pathways from KEGG enrichment were the AGE-RAGE signaling pathway in diabetic complications, Chagas disease, and the IL-17 signaling pathway, the TNF signaling pathway, etc, as well as several immune-related pathways from Reactome enrichment. There were differences in the number of transcripts between PTB-related genes and other genes in the genome (α = 0.1, P = 0.06), but there was no significant difference in GC content and gene lengths. The results suggest that PTB-related genes are mostly in immune-related pathways, and have molecular functions closely related to immunity. Our work provides an important resource for the study of the genetical mechanisms of PTB.

Key words: preterm birth, data mining, enrichment analysis, gene features, transcript number