Liu Ta-Chiang, Stappenbeck Thaddeus S
Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri 63110; email:
Annu Rev Pathol. 2016 May 23;11:127-48. doi: 10.1146/annurev-pathol-012615-044152. Epub 2016 Feb 22.
We are currently in an exciting time when our understanding of genetic underpinnings of inflammatory bowel disease (IBD) has undergone a revolution, based in large part on novel genotyping and sequencing technologies. With >160 susceptible loci identified for IBD, the goal is now to understand at a fundamental level the function of these susceptibility alleles. Determining the clinical relevance of how these susceptible genes shape the development of IBD is also a high priority. The main challenge is to understand how the environment and microbiome play a role in triggering disease in genetically susceptible individuals, as the interactions may be complex. To advance the field, novel in vitro and mouse models that are designed to interrogate complex genetics and functionally test hypotheses are needed. Ultimately, the goal of genetics studies will be to translate genetics to patients with IBD and improve their care.
我们目前正处于一个令人兴奋的时期,在此期间,我们对炎症性肠病(IBD)遗传基础的理解经历了一场革命,这在很大程度上基于新型基因分型和测序技术。已为IBD鉴定出160多个易感基因座,目前的目标是从根本层面了解这些易感等位基因的功能。确定这些易感基因如何影响IBD发展的临床相关性也是当务之急。主要挑战在于理解环境和微生物群如何在遗传易感个体中触发疾病,因为它们之间的相互作用可能很复杂。为推动该领域发展,需要设计用于探究复杂遗传学并对假设进行功能测试的新型体外和小鼠模型。最终,遗传学研究的目标将是将遗传学应用于IBD患者并改善他们的治疗。
Annu Rev Pathol. 2016-5-23
Mol Biol Rep. 2020-4
Inflamm Bowel Dis. 2023-10-3
Gastroenterol Clin North Am. 2002-3
Br Med Bull. 2008
Expert Rev Clin Immunol. 2016-6-15
Pharmaceuticals (Basel). 2025-7-31
Gastroenterol Rep (Oxf). 2025-7-28
Front Immunol. 2025-4-14
Immunity. 2015-1-20