Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.
The Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.
Hum Genet. 2023 May;142(5):599-611. doi: 10.1007/s00439-022-02464-7. Epub 2022 Jun 28.
Over 100 genes are associated with monogenic forms of inflammatory bowel disease (IBD). These genes affect the epithelial barrier function, innate and adaptive immunity in the intestine, and immune tolerance. We provide an overview of newly discovered monogenic IBD genes and illustrate how a recently proposed taxonomy model can integrate phenotypes and shared pathways. We discuss how functional understanding of genetic disorders and clinical genomics supports personalised medicine for patients with monogenic IBD.
超过 100 个基因与单基因形式的炎症性肠病（IBD）有关。这些基因影响肠道的上皮屏障功能、先天和适应性免疫以及免疫耐受。我们提供了对新发现的单基因 IBD 基因的概述，并说明了最近提出的分类模型如何整合表型和共享途径。我们讨论了对遗传疾病的功能理解和临床基因组学如何支持单基因 IBD 患者的个体化医疗。
