Nature:利用遗传学及功能基因组学剖析IBD相关通路(综述)
创作:szx 审核:szx 04月01日
  • 通过功能基因组学分析,可阐明疾病风险基因与其在疾病进展中发挥的细胞及分子功能;
  • GWAS研究在近6万名受试者(2.5万名IBD患者)中鉴定出了约240个IBD风险基因位点;
  • IBD风险基因参与调控的IBD相关通路包括:菌群感知与效应通路、肠道屏障功能、适应性免疫、炎症与纤维化、细胞应激通路、细胞因子网络、炎性小体信号通路;
  • IBD风险基因构成复杂调控网络,一些IBD风险基因在多种细胞类型中表达,可对多个通路起细胞特异性的调控作用。
主编推荐语
szx
IBD是一种复杂疾病,遗传因素与环境因素对菌群-免疫轴的破坏驱动了IBD的发病。来自Nature上发表的一篇综述文章,详细介绍了近年来通过对IBD相关风险基因的研究,揭示出的在IBD发病机制中起关键调控作用的细胞及分子通路,以及这些通路在粘膜免疫稳态调控中的作用机制。同时,该综述以IBD为例,总结了如何通过遗传学及功能基因组分析,研究特定疾病的发病机制的策略。
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Nature [IF:42.778]

Pathway paradigms revealed from the genetics of inflammatory bowel disease

IBD的遗传因素研究的路径模式

10.1038/s41586-020-2025-2

02-26, Review

Abstract & Authors:展开

Abstract:收起
Inflammatory bowel disease (IBD) is a complex genetic disease that is instigated and amplified by the confluence of multiple genetic and environmental variables that perturb the immune–microbiome axis. The challenge of dissecting pathological mechanisms underlying IBD has led to the development of transformative approaches in human genetics and functional genomics. Here we describe IBD as a model disease in the context of leveraging human genetics to dissect interactions in cellular and molecular pathways that regulate homeostasis of the mucosal immune system. Finally, we synthesize emerging insights from multiple experimental approaches into pathway paradigms and discuss future prospects for disease-subtype classification and therapeutic intervention.

First Authors:
Daniel B Graham

Correspondence Authors:
Daniel B Graham,Ramnik J Xavier

All Authors:
Daniel B Graham,Ramnik J Xavier

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