美国哈佛大学和麻省理工学院Ramnik J. Xavier和Daniel B. Graham合作综述了由炎症性肠病（IBD）遗传学揭示的信号通路范例。2020年2月26日出版的《自然》在线发表了这项成果。
研究人员将IBD作为一种疾病模型，利用该疾病模型借助人类遗传学方法阐述调节黏膜免疫系统稳态的细胞和分子间相互作用。最终，研究人员提取了多种实验方法中的新观点综合为通路范例，并讨论了疾病亚型分类和干预治疗的未来前景。
研究人员表示，IBD是一种复杂的遗传疾病，受多种干扰免疫-微生物组轴遗传和环境变量的影响而诱发和放大。阐明IBD病理机制这一挑战促进了人类遗传学和功能基因组学中转化方法的发展。
附：英文原文
Title: Pathway paradigms revealed from the genetics of inflammatory bowel disease
Author: Daniel B. Graham, Ramnik J. Xavier
Issue&Volume: 2020-02-26
Abstract: 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.
DOI: 10.1038/s41586-020-2025-2
Source: https://www.nature.com/articles/s41586-020-2025-2
Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
投稿链接：http://www.nature.com/authors/submit_manuscript.html
本期文章：《自然》：Online/在线发表
